Q9H190
SS
Gene name |
SDCBP2 (SITAC18) |
Protein name |
Syntenin-2 |
Names |
Similar to TACIP18 , SITAC , Syndecan-binding protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27111 |
EC number |
|
Protein Class |
|
Descriptions
SDCBP (Syntenin-1) is a multifunctional adapter protein that regulates TGFB1-mediated SMAD2/3 activation, TGFB1-induced epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types. The 100 amino acid long N-terminal domain (NTD) works as an autoinhibitory region, which restricts the membrane targeting by flanking to PDZ tandem. The deletion of the first 102 amino acids confers a strong plasma membrane enrichment. The region between amino acids 56 and 59 is highly conserved among systenin-1 proteins. In particular, phosphorylation of Tyr56 may regulate the plasma membrane binding of syntenin-1 by modulating the interaction strength between the internal peptide stretch and PDZ1-PDZ2.
Autoinhibitory domains (AIDs)
Target domain |
97-269 (PDZ tandem) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9H190
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H190-F1 | Predicted | AlphaFoldDB |
358 variants for Q9H190
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM5718808 COSM5718807 |
3 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs954697190 | 3 | S>P | No |
TOPMed gnomAD |
|
| rs1305890994 | 4 | L>Q | No |
TOPMed gnomAD |
|
| rs762221855 | 5 | Y>H | No | gnomAD | |
| rs1273985434 | 6 | P>S | No | gnomAD | |
| rs777164481 | 9 | E>G | No |
ExAC gnomAD |
|
|
COSM86092 COSM4947472 |
10 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757998968 | 10 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs967616629 | 14 | D>E | No |
TOPMed gnomAD |
|
| rs764909919 | 15 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs571603255 | 15 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs764909919 | 15 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs759308798 | 15 | Q>R | No |
ExAC gnomAD |
|
| rs1433926580 | 16 | A>V | No | gnomAD | |
| rs141371921 | 17 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1185907374 | 18 | Q>E | No | TOPMed | |
| rs1391006725 | 20 | Q>K | No | gnomAD | |
| TCGA novel | 20 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2088826430 | 21 | V>I | No | TOPMed | |
| rs981600553 | 22 | R>K | No |
TOPMed gnomAD |
|
| rs981600553 | 22 | R>T | No |
TOPMed gnomAD |
|
| rs1289169494 | 23 | A>D | No | TOPMed | |
| rs1289169494 | 23 | A>G | No | TOPMed | |
| rs766098404 | 23 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1235826229 | 25 | P>H | No | gnomAD | |
| rs1235826229 | 25 | P>R | No | gnomAD | |
| rs777016172 | 25 | P>S | No |
TOPMed gnomAD |
|
| rs750355460 | 26 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs763101569 | 26 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs376081680 | 26 | K>T | No |
ESP ExAC gnomAD |
|
| rs2088826003 | 28 | P>L | No | Ensembl | |
| rs775769778 | 29 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs931952414 | 29 | A>P | No |
TOPMed gnomAD |
|
| rs931952414 | 29 | A>S | No |
TOPMed gnomAD |
|
| rs775769778 | 29 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1377749219 | 31 | P>L | No |
TOPMed gnomAD |
|
|
rs1433961283 COSM1190193 COSM1190192 |
33 | Q>P | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2088825742 | 34 | A>T | No |
TOPMed gnomAD |
|
| rs1417157302 | 34 | A>V | No |
TOPMed gnomAD |
|
| rs1162065308 | 35 | T>A | No |
TOPMed gnomAD |
|
|
COSM443456 COSM443457 |
36 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 38 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759680345 | 39 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs759680345 | 39 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2122528338 | 39 | P>S | No | Ensembl | |
| rs373178879 | 40 | P>L | No |
TOPMed gnomAD |
|
| rs1600282416 | 41 | P>A | No | TOPMed | |
| rs2088825475 | 41 | P>L | No | Ensembl | |
| rs1600282416 | 41 | P>T | No | TOPMed | |
| rs767954659 | 42 | V>I | No |
TOPMed gnomAD |
|
| rs767954659 | 42 | V>L | No |
TOPMed gnomAD |
|
| rs1039206165 | 43 | L>F | No |
TOPMed gnomAD |
|
| rs2088809588 | 43 | L>S | No | TOPMed | |
|
COSM1483435 COSM1483434 |
44 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2122524479 | 46 | N>S | No | Ensembl | |
| rs2088809405 | 48 | A>E | No | TOPMed | |
| rs2088809405 | 48 | A>V | No | TOPMed | |
| rs773636897 | 49 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs773636897 | 49 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1215208846 | 50 | L>P | No | gnomAD | |
|
COSM4920940 rs2088809253 COSM4920941 |
53 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
|
rs2088809140 COSM1024567 COSM1024568 |
54 | M>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1266991904 | 54 | M>T | No |
TOPMed gnomAD |
|
| rs1237473798 | 55 | G>C | No | gnomAD | |
| rs1237473798 | 55 | G>S | No | gnomAD | |
| rs200255946 | 58 | L>F | No | Ensembl | |
| rs61735059 | 58 | L>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200255946 | 58 | L>V | No | Ensembl | |
| rs779547387 | 59 | S>P | No |
ExAC gnomAD |
|
| rs2088808811 | 62 | E>G | No | Ensembl | |
| rs1190885212 | 63 | V>A | No | TOPMed | |
| rs1328127856 | 64 | Q>* | No |
TOPMed gnomAD |
|
| rs1441947773 | 65 | E>D | No | gnomAD | |
| rs2088808668 | 65 | E>K | No | TOPMed | |
| rs2088808668 | 65 | E>Q | No | TOPMed | |
| rs371823750 | 67 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM4096682 COSM4096681 |
67 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2088808520 | 68 | L>V | No | TOPMed | |
|
COSM6159216 COSM6159217 |
69 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs981265741 | 70 | I>T | No |
TOPMed gnomAD |
|
| rs781137455 | 71 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs2088808378 | 74 | D>G | No | Ensembl | |
| rs2088808326 | 75 | S>G | No | TOPMed | |
| rs751579851 | 75 | S>N | No |
ExAC gnomAD |
|
| rs914750701 | 76 | T>I | No |
TOPMed gnomAD |
|
| rs1231618724 | 78 | V>A | No |
TOPMed gnomAD |
|
| rs1231618724 | 78 | V>D | No |
TOPMed gnomAD |
|
| rs983878206 | 79 | S>L | No |
TOPMed gnomAD |
|
| rs745940961 | 80 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1320797271 | 81 | P>L | No | gnomAD | |
| rs2088717799 | 81 | P>S | No | gnomAD | |
|
rs1375192902 COSM1024565 COSM1024564 |
82 | G>R | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs1328529504 | 83 | P>T | No | gnomAD | |
| rs370467931 | 84 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs370467931 | 84 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 85 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2088717216 | 86 | M>V | No | Ensembl | |
| rs1186153299 | 87 | V>A | No |
TOPMed gnomAD |
|
| rs2088717172 | 87 | V>M | No |
TOPMed gnomAD |
|
| rs1243963356 | 88 | A>S | No | gnomAD | |
| rs1243963356 | 88 | A>T | No | gnomAD | |
| rs753061704 | 89 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1217823180 | 89 | P>S | No | gnomAD | |
| rs1208381639 | 90 | V>A | No | gnomAD | |
| rs1349786972 | 91 | T>A | No | gnomAD | |
| rs753344660 | 92 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs766012426 | 92 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1271473505 | 93 | Y>C | No | gnomAD | |
| rs1175822544 | 94 | S>G | No | Ensembl | |
| rs760209580 | 94 | S>N | No |
ExAC gnomAD |
|
| rs2088716345 | 95 | L>V | No | gnomAD | |
| rs767121690 | 96 | G>S | No |
ExAC gnomAD |
|
| rs1436900917 | 97 | V>M | No | gnomAD | |
| rs146066829 | 98 | R>Q | No |
ESP TOPMed gnomAD |
|
| rs761651583 | 98 | R>W | No |
ExAC gnomAD |
|
| rs141976631 | 99 | R>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs141976631 | 99 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1009179766 | 99 | R>Q | No |
TOPMed gnomAD |
|
| rs749236229 | 100 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1256631124 | 102 | I>* | No | gnomAD | |
| rs776640562 | 103 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs148177644 | 105 | G>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1203342882 | 105 | G>R | No | gnomAD | |
| rs377544717 | 106 | V>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs35578871 | 107 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs748480560 | 107 | R>H | No |
ExAC gnomAD |
|
| TCGA novel | 108 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779436203 | 108 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs779436203 | 108 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs892770410 | 109 | I>F | No | gnomAD | |
| rs892770410 | 109 | I>V | No | gnomAD | |
| rs2088715013 | 111 | L>P | No | Ensembl | |
| rs1380308131 | 112 | C>F | No | gnomAD | |
| rs1380308131 | 112 | C>Y | No | gnomAD | |
| rs755496574 | 113 | K>Q | No |
ExAC gnomAD |
|
| rs2088714855 | 114 | D>H | No | Ensembl | |
| rs2088714734 | 115 | E>K | No | TOPMed | |
| rs2088714734 | 115 | E>Q | No | TOPMed | |
|
COSM4096677 COSM4096678 COSM4096676 |
116 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2122508050 | 116 | R>P | No | Ensembl | |
| rs754432555 | 116 | R>S | No |
ExAC gnomAD |
|
| rs1171651593 | 117 | G>D | No |
TOPMed gnomAD |
|
| rs767037068 | 117 | G>R | No |
ExAC TOPMed gnomAD |
|
|
COSM1410404 COSM1410403 COSM1410405 |
117 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1171651593 | 117 | G>V | No |
TOPMed gnomAD |
|
| rs749955441 | 118 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs767192786 | 119 | T>A | No |
ExAC gnomAD |
|
| rs576691856 | 119 | T>N | No |
1000Genomes ExAC gnomAD |
|
| rs763897491 | 120 | G>R | No |
ExAC gnomAD |
|
| rs762838004 | 120 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs763897491 | 120 | G>W | No |
ExAC gnomAD |
|
| rs1202943640 | 121 | L>R | No | TOPMed | |
|
COSM5123233 COSM5123231 COSM5123232 |
124 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2088713734 | 125 | K>E | No | gnomAD | |
| rs780669009 | 125 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs927158790 | 126 | V>F | No | Ensembl | |
|
COSM5734214 COSM5734216 COSM5734215 |
127 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs889233114 | 128 | Q>H | No |
TOPMed gnomAD |
|
| rs2088713362 | 128 | Q>R | No | TOPMed | |
| rs1249847503 | 129 | G>R | No |
TOPMed gnomAD |
|
| TCGA novel | 129 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs137993261 | 130 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs1568558965 | 130 | L>P | No | Ensembl | |
| rs770274763 | 131 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs2122505262 | 132 | V>M | No | Ensembl | |
| rs746382498 | 133 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs1353293081 | 133 | Q>H | No |
TOPMed gnomAD |
|
| rs746382498 | 133 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs780711384 | 133 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs1487267452 | 135 | V>A | No |
TOPMed gnomAD |
|
| rs1336007214 | 135 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2088697878 | 136 | Q>E | No | TOPMed | |
| rs2088697786 | 138 | N>K | No | Ensembl | |
| rs748162277 | 139 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs778998069 | 140 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs777399533 | 141 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs777399533 | 141 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs556586233 | 141 | A>V | No |
1000Genomes ExAC gnomAD |
|
| rs1474536785 | 142 | S>F | No | gnomAD | |
| TCGA novel | 142 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1239575948 | 143 | L>F | No | gnomAD | |
| rs142185640 | 143 | L>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs368644842 | 144 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs368644842 | 144 | V>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs141248742 | 144 | V>L | No |
ESP TOPMed |
|
| rs2088697031 | 145 | G>R | No | TOPMed | |
| rs1458249332 | 146 | L>R | No |
TOPMed gnomAD |
|
|
rs138600579 COSM267871 COSM267869 COSM267870 |
147 | R>C | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs200330837 | 147 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs138600579 | 147 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1326891 COSM1326892 COSM1326890 |
150 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770084396 | 151 | Q>H | No |
ExAC gnomAD |
|
| rs754691102 | 151 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs201102172 | 152 | L>F | No |
1000Genomes ExAC gnomAD |
|
| rs2088696598 | 153 | L>R | No | TOPMed | |
| rs1368464487 | 154 | Q>H | No | gnomAD | |
| rs1326389104 | 154 | Q>P | No | gnomAD | |
| rs534687351 | 155 | I>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs534687351 | 155 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1448602591 | 155 | I>V | No | gnomAD | |
| rs41280300 | 157 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs41280300 | 157 | G>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1580004 COSM1580005 COSM1580003 rs757998845 |
158 | R>C | central_nervous_system [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
|
rs747790242 COSM4096673 COSM4096675 COSM4096674 |
158 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1362471766 | 162 | G>E | No |
TOPMed gnomAD |
|
| TCGA novel | 162 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1180710751 | 163 | W>R | No | gnomAD | |
| rs754710456 | 165 | S>A | No |
ExAC TOPMed gnomAD |
|
|
COSM3544119 COSM3544117 COSM3544118 |
165 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1335095958 | 165 | S>W | No |
TOPMed gnomAD |
|
| rs1600275786 | 166 | H>Y | No | Ensembl | |
| rs1211836326 | 168 | A>V | No | gnomAD | |
| rs932598282 | 169 | H>N | No | Ensembl | |
| rs555593742 | 169 | H>Q | No |
1000Genomes ExAC gnomAD |
|
|
COSM4497932 COSM4497931 COSM4497933 |
170 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1291886221 | 170 | Q>E | No |
TOPMed gnomAD |
|
| rs1467382654 | 171 | V>E | No |
TOPMed gnomAD |
|
| rs2088695472 | 171 | V>M | No | Ensembl | |
| rs966806875 | 172 | V>A | No | Ensembl | |
| rs966806875 | 172 | V>G | No | Ensembl | |
| rs370427266 | 178 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs370427266 | 178 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs765543642 | 179 | K>N | No |
ExAC gnomAD |
|
| rs1433621960 | 180 | I>T | No |
TOPMed gnomAD |
|
| TCGA novel | 180 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_053700 rs2273959 |
182 | V>M | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2088694776 | 183 | V>M | No | TOPMed | |
| rs183570405 | 184 | V>A | No |
1000Genomes ExAC gnomAD |
|
| rs183570405 | 184 | V>D | No |
1000Genomes ExAC gnomAD |
|
| rs771371273 | 185 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM1410401 COSM1410402 rs1383253202 COSM1410400 |
185 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs201595244 | 186 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201595244 | 186 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs772670550 | 187 | R>K | No |
ExAC gnomAD |
|
| rs779951866 | 187 | R>S | No |
ExAC gnomAD |
|
| rs369056384 | 188 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1615334 COSM1615336 COSM1615335 rs1401197027 |
188 | P>L | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs369056384 | 188 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs369056384 | 188 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs35367003 | 191 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM33216 rs35367003 VAR_036544 |
191 | R>Q | large_intestine endometrium a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1410398 COSM1410399 COSM1410397 rs781260947 |
191 | R>W | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs755117832 | 195 | M>T | No |
ExAC gnomAD |
|
| rs200177394 | 195 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1038971316 | 196 | H>Y | No | Ensembl | |
| rs766639872 | 198 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1303662810 | 199 | S>I | No |
TOPMed gnomAD |
|
| rs1416878947 | 200 | M>T | No |
TOPMed gnomAD |
|
| rs943264086 | 201 | G>R | No | Ensembl | |
| rs943264086 | 201 | G>S | No | Ensembl | |
| rs1220103588 | 202 | H>Y | No | gnomAD | |
| rs200669106 | 203 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2088690374 | 204 | G>A | No | TOPMed | |
| rs140081534 | 204 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs945241375 | 205 | F>L | No |
TOPMed gnomAD |
|
| rs146056719 | 205 | F>L | No |
ESP ExAC gnomAD |
|
| rs989490258 | 206 | V>E | No | Ensembl | |
| rs762408353 | 206 | V>L | No |
ExAC TOPMed gnomAD |
|
|
COSM1410393 COSM1410392 rs762408353 COSM1410391 |
206 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1486975251 | 207 | I>V | No |
TOPMed gnomAD |
|
| rs370775628 | 209 | K>* | No | Ensembl | |
| rs2088689928 | 211 | K>R | No | Ensembl | |
| rs775259934 | 212 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs2088689878 | 212 | I>V | No | TOPMed | |
| rs769627269 | 213 | V>I | No |
ExAC gnomAD |
|
| rs149995502 | 214 | S>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs149995502 | 214 | S>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs776572293 | 214 | S>P | No |
ExAC gnomAD |
|
| TCGA novel | 215 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs926792736 | 216 | V>G | No |
TOPMed gnomAD |
|
| rs2088689404 | 217 | K>I | No | Ensembl | |
| rs2088689276 | 220 | S>T | No | TOPMed | |
| rs535612046 | 221 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_053701 rs1048621 |
223 | R>C | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1048621 | 223 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs767943587 | 223 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs767943587 | 223 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs201586857 | 224 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1454013977 | 224 | N>S | No |
TOPMed gnomAD |
|
| rs150913229 | 225 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs141582918 | 225 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1234117588 | 229 | N>H | No | Ensembl | |
| rs762537671 | 230 | H>N | No |
ExAC TOPMed gnomAD |
|
| rs1239458503 | 230 | H>Q | No | gnomAD | |
| rs762537671 | 230 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs1026070624 | 231 | Y>* | No |
TOPMed gnomAD |
|
| rs1568558494 | 231 | Y>C | No | Ensembl | |
| rs139213919 | 232 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs764916315 | 233 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2088687603 | 234 | E>K | No | Ensembl | |
| rs1306816382 | 235 | V>A | No |
TOPMed gnomAD |
|
| rs993045966 | 236 | D>N | No | Ensembl | |
| rs1568558423 | 237 | G>A | No | Ensembl | |
| rs773190093 | 237 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs773190093 | 237 | G>W | No |
ExAC TOPMed gnomAD |
|
|
COSM3840423 COSM3840421 COSM3840422 |
238 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2088686967 | 239 | N>S | No | TOPMed | |
| rs1365612301 | 241 | I>M | No |
TOPMed gnomAD |
|
| rs771972985 | 241 | I>V | No |
ExAC gnomAD |
|
|
VAR_053702 rs4814111 |
242 | G>R | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs945406085 | 243 | L>M | No | Ensembl | |
| rs1482956316 | 245 | D>N | No |
TOPMed gnomAD |
|
|
COSM3799323 COSM3799322 COSM3799321 |
246 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
TCGA novel rs2088655325 |
247 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| TCGA novel | 248 | I>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1422356525 | 248 | I>N | No | gnomAD | |
| rs760254645 | 248 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs373946299 | 249 | M>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2088655150 | 249 | M>T | No | Ensembl | |
| rs750179288 | 249 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1258506629 | 251 | I>L | No | TOPMed | |
| rs2088654999 | 251 | I>S | No |
TOPMed gnomAD |
|
| rs2088654999 | 251 | I>T | No |
TOPMed gnomAD |
|
| rs1424770652 | 253 | A>T | No | gnomAD | |
| rs761639154 | 254 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs761639154 | 254 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1258485198 | 255 | A>S | No |
TOPMed gnomAD |
|
| rs2088654676 | 255 | A>V | No |
TOPMed gnomAD |
|
| rs1457345079 | 256 | G>W | No | gnomAD | |
| rs759659205 | 258 | V>A | No |
ExAC gnomAD |
|
| rs200343104 | 258 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1270701105 | 260 | T>A | No | gnomAD | |
| rs2088654461 | 261 | L>M | No | gnomAD | |
| rs1369357123 | 262 | T>I | No | TOPMed | |
| rs776579515 | 263 | I>V | No |
ExAC gnomAD |
|
| rs1427226363 | 264 | I>M | No | TOPMed | |
| rs1052706786 | 265 | P>S | No | gnomAD | |
| rs373203370 | 266 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs747218452 | 266 | S>N | No |
ExAC gnomAD |
|
| rs143026050 | 269 | Y>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2088654051 | 269 | Y>C | No | TOPMed | |
| rs972745313 | 270 | E>A | No | Ensembl | |
| rs972745313 | 270 | E>G | No | Ensembl | |
| rs529922288 | 270 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1328757964 | 271 | H>Y | No | gnomAD | |
| rs560992443 | 272 | M>I | No |
1000Genomes ExAC gnomAD |
|
| rs369163908 | 272 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2088653711 | 272 | M>V | No | TOPMed | |
| rs779449164 | 273 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs2088653470 | 274 | K>E | No | TOPMed | |
| rs755755502 | 275 | K>E | No |
ExAC gnomAD |
|
| rs1352760253 | 277 | P>L | No | gnomAD | |
| rs2122494963 | 277 | P>S | No | Ensembl | |
| rs377210208 | 278 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1290592712 | 279 | V>I | No | TOPMed | |
| rs2088644571 | 280 | L>P | No | Ensembl | |
| rs767787471 | 281 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs2122494852 | 283 | H>R | No | Ensembl | |
| rs768876040 | 284 | T>A | No |
ExAC gnomAD |
|
| rs1031892667 | 285 | M>I | No |
TOPMed gnomAD |
|
| rs566204392 | 285 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201959011 | 287 | H>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs546304665 | 287 | H>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201959011 | 287 | H>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201959011 | 287 | H>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs967721057 | 288 | S>C | No | Ensembl | |
| rs368582007 | 288 | S>P | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM4096672 COSM4096670 COSM4096671 |
290 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
No associated diseases with Q9H190
2 regional properties for Q9H190
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PDZ domain | 108 - 188 | IPR001478-1 |
| domain | PDZ domain | 191 - 267 | IPR001478-2 |
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| intracellular transport | The directed movement of substances within a cell. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q02410 | APBA1 | Amyloid-beta A4 precursor protein-binding family A member 1 | Homo sapiens (Human) | SS |
| Q99767 | APBA2 | Amyloid-beta A4 precursor protein-binding family A member 2 | Homo sapiens (Human) | SS |
| O00560 | SDCBP | Syntenin-1 | Homo sapiens (Human) | EV |
| Q99JZ0 | Sdcbp2 | Syntenin-2 | Mus musculus (Mouse) | SS |
| O08992 | Sdcbp | Syntenin-1 | Mus musculus (Mouse) | SS |
| Q4KLN0 | Sdcbp2 | Syntenin-2 | Rattus norvegicus (Rat) | SS |
| Q9JI92 | Sdcbp | Syntenin-1 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSLYPSLED | LKVDQAIQAQ | VRASPKMPAL | PVQATAISPP | PVLYPNLAEL | ENYMGLSLSS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QEVQESLLQI | PEGDSTAVSG | PGPGQMVAPV | TGYSLGVRRA | EIKPGVREIH | LCKDERGKTG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRLRKVDQGL | FVQLVQANTP | ASLVGLRFGD | QLLQIDGRDC | AGWSSHKAHQ | VVKKASGDKI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VVVVRDRPFQ | RTVTMHKDSM | GHVGFVIKKG | KIVSLVKGSS | AARNGLLTNH | YVCEVDGQNV |
| 250 | 260 | 270 | 280 | 290 | |
| IGLKDKKIME | ILATAGNVVT | LTIIPSVIYE | HMVKKLPPVL | LHHTMDHSIP | DA |