P48307
SS
Gene name |
TFPI2 |
Protein name |
Tissue factor pathway inhibitor 2 |
Names |
TFPI-2 , Placental protein 5 , PP5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7980 |
EC number |
|
Protein Class |
|
Descriptions
Kunitz-type protease inhibitor 2 (or hepatocyte growth factor activator inhibitor type 2 (HAI-2)) is an integral membrane Kunitz-type serine protease inhibitor that regulates the proteolysis of matriptase and prostasin in a cell-type selective manner. The vast majority of non-glycosylated HAI-2 is synthesized into multiple disulfide-linked oligomers, which lack protease inhibitory function, likely due to distorted conformations caused by the disarrayed disulfide linkages. N-glycosylation on Asn-57 is required for folding into a functional HAI-2 with full protease suppressive activity and correct subcellular targeting signal.
Autoinhibitory domains (AIDs)
Target domain |
33-87 (Pancreatic trypsin inhibitor Kunitz domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for P48307
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1ZR0 | X-ray | 180 A | B/D | 28-90 | PDB |
| AF-P48307-F1 | Predicted | AlphaFoldDB |
284 variants for P48307
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs888343018 | 2 | D>N | No | gnomAD | |
| rs1794122403 | 2 | D>V | No | gnomAD | |
| rs1794122067 | 3 | P>R | No | Ensembl | |
| rs1794122180 | 3 | P>T | No | Ensembl | |
| rs746871436 | 4 | A>P | No |
ExAC gnomAD |
|
|
COSM361022 rs746871436 |
4 | A>S | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1335554184 | 4 | A>V | No | gnomAD | |
| rs1794121490 | 5 | R>C | No | TOPMed | |
|
rs1794121378 COSM3883451 |
5 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1434803858 | 6 | P>S | No | gnomAD | |
|
rs745426990 COSM5835466 |
7 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1171390862 | 7 | L>V | No | gnomAD | |
| rs758084609 | 8 | G>E | No |
ExAC gnomAD |
|
| rs1794120466 | 9 | L>M | No | TOPMed | |
| rs745447348 | 10 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs745447348 | 10 | S>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs778516971 | 11 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs1794120031 | 11 | I>V | No | Ensembl | |
| TCGA novel | 12 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753324768 | 13 | L>P | No |
ExAC gnomAD |
|
| rs1794119514 | 14 | L>P | No | TOPMed | |
| rs1354770731 | 16 | L>P | No | gnomAD | |
| rs1270750621 | 17 | T>K | No |
TOPMed gnomAD |
|
| rs1794118921 | 17 | T>S | No | Ensembl | |
| rs1794118450 | 19 | A>G | No | TOPMed | |
| rs529728941 | 20 | A>S | No |
1000Genomes gnomAD |
|
| rs529728941 | 20 | A>T | No |
1000Genomes gnomAD |
|
| rs1285919976 | 22 | G>S | No |
TOPMed gnomAD |
|
| rs111391943 | 23 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs149847293 | 23 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1233988248 | 26 | Q>* | No | gnomAD | |
| rs1794117107 | 26 | Q>P | No | TOPMed | |
| rs759831116 | 28 | P>A | No |
ExAC gnomAD |
|
| rs1794116891 | 29 | T>R | No | Ensembl | |
| rs770584232 | 30 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs774383920 | 30 | G>R | No |
ExAC gnomAD |
|
| rs2115854474 | 31 | N>H | No | Ensembl | |
| TCGA novel | 32 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1794106285 | 33 | A>G | No |
TOPMed gnomAD |
|
| rs777294924 | 33 | A>P | No |
ExAC TOPMed gnomAD |
|
| COSM1093239 | 33 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3883450 | 33 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs952021705 | 34 | E>D | No | TOPMed | |
| rs1794106215 | 34 | E>K | No | Ensembl | |
| rs1471447693 | 35 | I>F | No |
TOPMed gnomAD |
|
| rs769241306 | 35 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs908573532 | 39 | P>L | No | TOPMed | |
| rs1168510936 | 40 | L>P | No | gnomAD | |
| rs1168510936 | 40 | L>Q | No | gnomAD | |
| rs1395922349 | 41 | D>A | No | gnomAD | |
| rs1794105432 | 41 | D>E | No | Ensembl | |
| rs1395922349 | 41 | D>G | No | gnomAD | |
| rs755500981 | 41 | D>N | No |
ExAC gnomAD |
|
| rs751929585 | 42 | Y>H | No |
ExAC TOPMed gnomAD |
|
| rs1197451751 | 43 | G>E | No | gnomAD | |
|
rs768990824 COSM1623324 |
43 | G>R | liver [Cosmic] | No |
cosmic curated gnomAD |
| rs1197451751 | 43 | G>V | No | gnomAD | |
| rs969302452 | 44 | P>L | No | TOPMed | |
| rs1306352387 | 44 | P>T | No | TOPMed | |
| rs1429855301 | 45 | C>Y | No | TOPMed | |
| rs372277275 | 46 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs765431049 | 46 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs765431049 | 46 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs372277275 | 46 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1369212220 | 48 | L>R | No | gnomAD | |
| rs970674204 | 48 | L>V | No | gnomAD | |
| rs892222373 | 49 | L>F | No | TOPMed | |
| rs1227077509 | 49 | L>H | No |
TOPMed gnomAD |
|
| rs1227077509 | 49 | L>P | No |
TOPMed gnomAD |
|
| rs767422286 | 50 | L>H | No |
ExAC gnomAD |
|
| rs759459076 | 51 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs759459076 | 51 | R>L | No |
ExAC gnomAD |
|
| rs1467672649 | 52 | Y>C | No | gnomAD | |
| rs1298396658 | 52 | Y>H | No | TOPMed | |
| rs1000512824 | 53 | Y>* | No |
TOPMed gnomAD |
|
| rs1421280720 | 53 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs200347458 | 53 | Y>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1421280720 | 53 | Y>S | No | gnomAD | |
| rs1409311544 | 56 | R>G | No |
TOPMed gnomAD |
|
| rs762615257 | 56 | R>K | No |
ExAC gnomAD |
|
| COSM3431883 | 57 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1393032487 | 57 | Y>H | No |
TOPMed gnomAD |
|
| rs550744142 | 60 | S>C | No |
1000Genomes ExAC gnomAD |
|
| rs769061988 | 60 | S>N | No |
ExAC gnomAD |
|
| rs1482833198 | 60 | S>R | No |
TOPMed gnomAD |
|
| COSM453590 | 62 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1794102217 | 62 | R>G | No |
TOPMed gnomAD |
|
| rs1280484365 | 63 | Q>* | No |
TOPMed gnomAD |
|
| rs1421608982 | 63 | Q>P | No |
TOPMed gnomAD |
|
| rs959127925 | 64 | F>L | No | TOPMed | |
| rs747485329 | 66 | Y>F | No |
ExAC gnomAD |
|
| COSM1452963 | 66 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746215278 | 67 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs746215278 | 67 | G>W | No |
ExAC TOPMed gnomAD |
|
| rs768025475 | 68 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757497424 | 68 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs779318520 | 68 | G>R | No |
ExAC TOPMed gnomAD |
|
|
rs753875527 COSM4846202 |
70 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs753875527 | 70 | E>Q | No |
ExAC gnomAD |
|
| rs530627196 | 71 | G>S | No |
1000Genomes ExAC gnomAD |
|
| rs565034885 | 72 | N>S | No |
1000Genomes ExAC gnomAD |
|
|
COSM198477 rs751463825 |
73 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs371739039 | 74 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs762774677 | 75 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs1179548028 | 77 | Y>C | No | gnomAD | |
| rs1584078682 | 78 | T>A | No | TOPMed | |
| COSM4830342 | 78 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs367633100 | 78 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1794098914 | 79 | W>* | No | TOPMed | |
| rs1186680892 | 79 | W>C | No | gnomAD | |
| rs761474099 | 79 | W>G | No |
ExAC gnomAD |
|
|
rs761474099 COSM293495 |
79 | W>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| COSM1093238 | 80 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1484454740 | 82 | C>Y | No | gnomAD | |
| rs768174690 | 84 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs776014241 | 84 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs35683413 | 85 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs35683413 | 85 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1350197081 | 85 | A>V | No | Ensembl | |
| COSM747466 | 86 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1259374930 | 87 | W>* | No |
TOPMed gnomAD |
|
| rs1220012036 | 87 | W>C | No | TOPMed | |
| rs1264527574 | 87 | W>R | No | gnomAD | |
| rs111975101 | 88 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1794097771 | 88 | R>S | No |
TOPMed gnomAD |
|
| rs1336183455 | 89 | I>R | No |
TOPMed gnomAD |
|
| rs1336183455 | 89 | I>T | No |
TOPMed gnomAD |
|
| rs779408482 | 89 | I>V | No | ExAC | |
| rs368062532 | 90 | E>K | No |
ESP TOPMed |
|
| rs1252816295 | 91 | K>N | No | gnomAD | |
| rs1292686710 | 91 | K>Q | No | gnomAD | |
| rs1299918057 | 92 | V>A | No |
TOPMed gnomAD |
|
| rs147181353 | 93 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs559043887 | 94 | K>E | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 96 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753546409 | 97 | R>Q | No |
ExAC gnomAD |
|
| rs757127367 | 97 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs149507259 | 98 | L>V | No |
ESP ExAC |
|
| rs1337623922 | 99 | Q>* | No | gnomAD | |
| rs1271156568 | 100 | V>L | No | TOPMed | |
| rs906019783 | 101 | S>N | No | TOPMed | |
|
rs1804202 VAR_012005 |
102 | V>A | No |
UniProt TOPMed dbSNP gnomAD |
|
| rs760391054 | 102 | V>M | No |
ExAC gnomAD |
|
| rs752270120 | 103 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs752270120 | 103 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs1043926113 | 104 | D>A | No | Ensembl | |
| rs867063561 | 104 | D>N | No | Ensembl | |
| rs1794076053 | 105 | Q>* | No | Ensembl | |
| rs34489123 | 107 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1302491336 | 108 | G>R | No | gnomAD | |
| rs1249330383 | 108 | G>V | No |
TOPMed gnomAD |
|
| rs1449556191 | 109 | S>P | No |
TOPMed gnomAD |
|
| rs1434190870 | 110 | T>K | No | gnomAD | |
| TCGA novel | 111 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1356220493 | 112 | K>R | No |
TOPMed gnomAD |
|
| COSM6111376 | 113 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1794075207 | 113 | Y>F | No |
TOPMed gnomAD |
|
| TCGA novel | 114 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1328865840 | 116 | N>H | No | gnomAD | |
| rs950184560 | 116 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775047372 | 117 | L>V | No |
ExAC gnomAD |
|
| rs573434214 | 118 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs573434214 | 118 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1794074556 | 119 | S>F | No | Ensembl | |
| rs2115849550 | 120 | M>I | No | Ensembl | |
| rs200803315 | 120 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1794074304 | 121 | T>K | No | gnomAD | |
|
rs150637497 COSM258172 |
125 | F>L | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs1562778878 | 127 | S>P | No | Ensembl | |
| rs1268590276 | 128 | G>A | No |
TOPMed gnomAD |
|
|
rs768678727 COSM2864910 |
128 | G>S | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs923899703 | 129 | G>E | No | TOPMed | |
| rs747072523 | 130 | C>R | No |
ExAC TOPMed gnomAD |
|
| COSM453589 | 130 | C>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1279063577 | 131 | H>Q | No | Ensembl | |
|
rs113538343 RCV000905042 COSM1178955 |
132 | R>Q | large_intestine prostate [Cosmic] | No |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| rs778950207 | 132 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| TCGA novel | 133 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1217267180 | 134 | R>Q | No |
TOPMed gnomAD |
|
|
rs1279266778 COSM1093237 |
134 | R>W | endometrium [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs374928628 | 135 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1794072469 COSM1093236 |
136 | E>D | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1280088055 | 136 | E>Q | No | gnomAD | |
| rs777375118 | 138 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs777375118 | 138 | R>M | No |
ExAC TOPMed gnomAD |
|
| rs777375118 | 138 | R>T | No |
ExAC TOPMed gnomAD |
|
| rs1478786350 | 140 | P>L | No | TOPMed | |
| rs1794071951 | 141 | D>H | No | TOPMed | |
| rs767255943 | 142 | E>G | No |
ExAC gnomAD |
|
| rs1174317931 | 143 | A>G | No |
TOPMed gnomAD |
|
| rs1794071585 | 145 | C>* | No | Ensembl | |
| rs201349476 | 146 | M>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs751024640 | 148 | F>L | No |
ExAC gnomAD |
|
| rs1794071280 | 149 | C>* | No | Ensembl | |
| rs763308765 | 149 | C>* | No |
ExAC TOPMed gnomAD |
|
| rs766963945 | 149 | C>G | No |
ExAC TOPMed gnomAD |
|
| rs138191431 | 150 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1794071030 | 151 | P>A | No | TOPMed | |
| rs774957534 | 151 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs774957534 | 151 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs1485428023 | 153 | K>E | No | gnomAD | |
| rs754659858 | 155 | P>S | No |
ExAC gnomAD |
|
| rs914737168 | 156 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| COSM1452962 | 157 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM747467 | 158 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs140695899 | 159 | Y>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1439201619 | 159 | Y>C | No |
TOPMed gnomAD |
|
| TCGA novel | 160 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1215944589 | 160 | S>R | No | gnomAD | |
| rs758972187 | 161 | P>A | No |
ExAC gnomAD |
|
| rs1794016311 | 163 | D>H | No |
TOPMed gnomAD |
|
| rs1794016257 | 164 | E>K | No | Ensembl | |
| rs139010214 | 165 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs750848880 | 165 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs139010214 | 165 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 166 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764358029 | 166 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1794015790 | 167 | C>F | No | TOPMed | |
| rs1794015732 | 168 | S>A | No | Ensembl | |
| rs1403477659 | 169 | A>D | No | TOPMed | |
| rs1330815192 | 170 | N>D | No |
TOPMed gnomAD |
|
| rs1439276812 | 170 | N>S | No | gnomAD | |
| rs775645782 | 171 | V>M | No |
ExAC gnomAD |
|
| rs1354571997 | 172 | T>I | No |
TOPMed gnomAD |
|
|
COSM602700 rs771995294 |
173 | R>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs745936067 | 173 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1384537314 | 179 | R>K | No | TOPMed | |
| rs1429281865 | 179 | R>S | No | gnomAD | |
| rs140870399 | 180 | Y>S | No | Ensembl | |
| rs769849113 | 181 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1794014773 | 181 | R>K | No |
TOPMed gnomAD |
|
| rs555084091 | 182 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1794014563 | 185 | A>T | No | TOPMed | |
| rs1026266842 | 189 | T>A | No |
TOPMed gnomAD |
|
| rs552406652 | 189 | T>N | No | Ensembl | |
| rs201241982 | 191 | C>W | No |
ExAC gnomAD |
|
| COSM3642443 | 193 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs76910578 | 194 | N>D | No | ExAC | |
| rs535268319 | 194 | N>K | No |
1000Genomes ExAC gnomAD |
|
| rs1025522206 | 196 | N>D | No | Ensembl | |
| rs765804458 | 199 | V>F | No |
ExAC TOPMed |
|
| rs765804458 | 199 | V>I | No |
ExAC TOPMed |
|
| rs757749590 | 200 | S>N | No |
ExAC gnomAD |
|
| rs1794013383 | 200 | S>R | No |
TOPMed gnomAD |
|
| rs754214799 | 201 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs374287137 | 202 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs374287137 | 202 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1794013115 | 203 | D>G | No |
TOPMed gnomAD |
|
| rs1562777827 | 204 | C>G | No | Ensembl | |
| rs1562777827 | 204 | C>R | No | Ensembl | |
| rs1794012882 | 205 | K>Q | No | TOPMed | |
|
rs767746862 COSM2151090 |
206 | R>C | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs759600704 | 206 | R>H | No |
ExAC gnomAD |
|
| rs767746862 | 206 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs774558978 | 208 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs769863653 | 208 | C>Y | No |
ExAC gnomAD |
|
| rs761771395 | 209 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs149186059 | 210 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 211 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768283623 | 211 | A>T | No |
ExAC gnomAD |
|
| rs1794003251 | 214 | K>T | No | Ensembl | |
| rs529410100 | 215 | K>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs775345572 | 215 | K>R | No |
ExAC TOPMed |
|
| rs775345572 | 215 | K>T | No |
ExAC TOPMed |
|
| rs1178812783 | 216 | K>N | No |
TOPMed gnomAD |
|
| rs1794002489 | 217 | K>E | No | gnomAD | |
| rs563832519 | 217 | K>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs373965063 | 219 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs746482016 | 219 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1794002110 | 221 | L>F | No | gnomAD | |
|
rs770380317 COSM421849 |
222 | R>C | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs543669576 COSM1176873 |
222 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs543669576 | 222 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs970111780 | 224 | A>V | No | gnomAD | |
| rs781548960 | 225 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs200489018 | 225 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs781548960 | 225 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1794001556 | 227 | I>N | No | Ensembl | |
|
COSM3942384 rs149215949 |
228 | R>Q | oesophagus [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000884715 rs143367024 COSM3736457 |
228 | R>W | skin [Cosmic] | No |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| rs1454188777 | 230 | I>T | No | gnomAD | |
|
VAR_050064 COSM3412495 rs12669450 |
231 | R>Q | central_nervous_system [Cosmic] | No |
cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199631820 COSM1698916 |
231 | R>W | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs776458771 | 235 | F>Y | No |
ExAC TOPMed gnomAD |
No associated diseases with P48307
5 regional properties for P48307
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Pancreatic trypsin inhibitor Kunitz domain | 33 - 87 | IPR002223-1 |
| domain | Pancreatic trypsin inhibitor Kunitz domain | 94 - 150 | IPR002223-2 |
| domain | Pancreatic trypsin inhibitor Kunitz domain | 156 - 209 | IPR002223-3 |
| conserved_site | Proteinase inhibitor I2, Kunitz, conserved site | 64 - 82 | IPR020901-1 |
| conserved_site | Proteinase inhibitor I2, Kunitz, conserved site | 186 - 204 | IPR020901-2 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular matrix | A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| extracellular matrix structural constituent | The action of a molecule that contributes to the structural integrity of the extracellular matrix. |
| serine-type endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of a serine-type endopeptidase. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| blood coagulation | The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages |
| cellular response to fluid shear stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fluid shear stress stimulus. Fluid shear stress is the force acting on an object in a system where the fluid is moving across a solid surface. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7YRQ8 | TFPI2 | Tissue factor pathway inhibitor 2 | Bos taurus (Bovine) | SS |
| Q868Z9 | Ppn | Papilin | Drosophila melanogaster (Fruit fly) | SS |
| M9PE65 | axo | Axotactin | Drosophila melanogaster (Fruit fly) | SS |
| P49223 | SPINT3 | Kunitz-type protease inhibitor 3 | Homo sapiens (Human) | SS |
| O43291 | SPINT2 | Kunitz-type protease inhibitor 2 | Homo sapiens (Human) | EV |
| O43278 | SPINT1 | Kunitz-type protease inhibitor 1 | Homo sapiens (Human) | EV |
| P10646 | TFPI | Tissue factor pathway inhibitor | Homo sapiens (Human) | SS |
| Q9R097 | Spint1 | Kunitz-type protease inhibitor 1 | Mus musculus (Mouse) | SS |
| Q9WU03 | Spint2 | Kunitz-type protease inhibitor 2 | Mus musculus (Mouse) | SS |
| O54819 | Tfpi | Tissue factor pathway inhibitor | Mus musculus (Mouse) | SS |
| O35536 | Tfpi2 | Tissue factor pathway inhibitor 2 | Mus musculus (Mouse) | SS |
| Q02445 | Tfpi | Tissue factor pathway inhibitor | Rattus norvegicus (Rat) | SS |
| Q28864 | TFPI | Tissue factor pathway inhibitor | Macaca mulatta (Rhesus macaque) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDPARPLGLS | ILLLFLTEAA | LGDAAQEPTG | NNAEICLLPL | DYGPCRALLL | RYYYDRYTQS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CRQFLYGGCE | GNANNFYTWE | ACDDACWRIE | KVPKVCRLQV | SVDDQCEGST | EKYFFNLSSM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TCEKFFSGGC | HRNRIENRFP | DEATCMGFCA | PKKIPSFCYS | PKDEGLCSAN | VTRYYFNPRY |
| 190 | 200 | 210 | 220 | 230 | |
| RTCDAFTYTG | CGGNDNNFVS | REDCKRACAK | ALKKKKKMPK | LRFASRIRKI | RKKQF |