A6NKD2
PR
Gene name |
TSPY2 (TSPYQ1) |
Protein name |
Testis-specific Y-encoded protein 2 |
Names |
Testis-specific Y-encoded protein Q1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64591 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for A6NKD2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6NKD2-F1 | Predicted | AlphaFoldDB |
91 variants for A6NKD2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10571830 rs769780868 |
2 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs749845353 CA10571832 |
3 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414961722 rs1189163821 |
4 | E>D | No |
ClinGen gnomAD |
|
|
rs769328393 CA10571833 |
5 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1472117203 CA414961754 |
6 | S>L | No |
ClinGen gnomAD |
|
|
CA10571835 rs762333216 |
10 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs762333216 CA414961814 |
10 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1409980208 CA414961830 |
11 | V>L | No |
ClinGen gnomAD |
|
|
CA10571836 rs767853882 |
12 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10571837 rs772752542 |
13 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs760325274 CA10571838 |
14 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1313315312 CA414961875 |
14 | R>S | No |
ClinGen gnomAD |
|
|
rs1569356229 CA414961877 |
15 | L>V | No |
ClinGen Ensembl |
|
|
CA414961903 rs1339622459 |
16 | R>Q | No |
ClinGen gnomAD |
|
|
rs1445777547 CA414961936 |
19 | S>F | No |
ClinGen gnomAD |
|
|
COSM131443 CA414961969 rs1271808876 |
22 | V>L | upper_aerodigestive_tract liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs765832868 CA10571839 |
24 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA414962007 rs1227850351 |
25 | A>T | No |
ClinGen gnomAD |
|
|
CA10571840 rs753382316 |
28 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA414962153 rs1211825972 |
32 | A>G | No |
ClinGen gnomAD |
|
|
CA337546329 rs879191568 |
35 | K>E | No |
ClinGen gnomAD |
|
|
rs1218568948 CA414962280 |
40 | F>Y | No |
ClinGen gnomAD |
|
|
rs1243129373 CA414962337 |
43 | E>G | No |
ClinGen gnomAD |
|
|
CA414962397 rs1187454926 |
46 | Q>H | No |
ClinGen gnomAD |
|
|
CA414962464 rs1387764602 |
51 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 51 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 55 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414962641 rs1455338610 |
60 | G>R | No |
ClinGen gnomAD |
|
|
CA414962643 rs1455338610 |
60 | G>W | No |
ClinGen gnomAD |
|
|
CA414962903 rs1602996407 |
74 | V>G | No |
ClinGen Ensembl |
|
|
rs1412485967 CA414962992 |
80 | E>Q | No |
ClinGen gnomAD |
|
|
COSM4005209 rs201475959 CA10571841 |
85 | E>G | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA414963083 rs1556038038 |
86 | R>Q | No |
ClinGen Ensembl |
|
|
rs1345774443 CA414963404 |
109 | L>P | No |
ClinGen gnomAD |
|
|
rs1318664248 CA414963455 |
113 | L>V | No |
ClinGen gnomAD |
|
|
CA414963644 rs1235324462 |
124 | A>V | No |
ClinGen gnomAD |
|
|
rs1274422620 CA414963683 |
127 | R>G | No |
ClinGen gnomAD |
|
|
rs765215141 CA10571842 |
131 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA414963749 rs1556038048 |
131 | S>T | No |
ClinGen Ensembl |
|
|
rs752629587 CA10571843 |
134 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs758136878 CA10571844 |
136 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA414963906 rs1245702473 |
141 | R>H | No |
ClinGen gnomAD |
|
|
CA10571846 rs750633057 |
144 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA414964000 rs1376651301 |
146 | D>G | No |
ClinGen gnomAD |
|
|
rs1556038064 CA414964011 |
147 | R>C | No |
ClinGen Ensembl |
|
|
CA414964130 rs1456667841 |
154 | S>I | No |
ClinGen gnomAD |
|
|
CA10571851 rs768850301 |
157 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA414964196 rs1569356324 |
158 | F>C | No |
ClinGen Ensembl |
|
|
CA414964232 rs1396799660 |
160 | A>D | No |
ClinGen gnomAD |
|
|
CA10571852 rs779566633 |
161 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA10571853 rs748630006 |
161 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10571861 rs752647910 |
165 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA10571862 rs752647910 |
165 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1458337988 CA414964335 |
167 | P>S | No |
ClinGen gnomAD |
|
|
CA10571863 rs763827329 |
176 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 180 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10571864 rs751412552 |
180 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs756980852 CA10571865 |
184 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10571874 rs771277609 |
189 | V>M | No |
ClinGen ExAC |
|
|
rs3893640 CA10571876 |
190 | E>G | No |
ClinGen ExAC |
|
|
CA10571875 rs776272126 |
190 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs775025974 CA10571878 |
194 | H>D | No |
ClinGen ExAC |
|
|
CA10571879 rs762339126 |
194 | H>R | No |
ClinGen ExAC |
|
|
CA10571880 rs764142471 |
195 | R>C | No |
ClinGen ExAC |
|
|
rs3876328 CA10571881 |
195 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs761671869 CA10571882 |
196 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs761671869 CA414964563 |
196 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10571884 rs754134309 |
197 | H>Q | No |
ClinGen ExAC |
|
|
rs767361972 CA10571883 |
197 | H>R | No |
ClinGen ExAC |
|
|
CA10571885 rs755210630 |
199 | C>G | No |
ClinGen ExAC |
|
|
rs752867873 CA10571887 |
202 | M>L | No |
ClinGen ExAC |
|
|
CA10571888 rs758391161 |
204 | F>L | No |
ClinGen ExAC |
|
|
CA10571890 rs747410560 |
206 | R>Q | No |
ClinGen ExAC |
|
|
CA10571889 rs778408411 |
206 | R>W | No |
ClinGen ExAC |
|
|
CA10571891 rs757635172 |
207 | S>N | No |
ClinGen ExAC |
|
|
rs781492056 CA10571892 |
208 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs769476323 CA10571894 |
209 | P>S | No |
ClinGen ExAC |
|
|
rs748889251 CA10571897 |
216 | I>V | No |
ClinGen ExAC |
|
|
rs768048592 CA10571898 |
218 | K>M | No |
ClinGen ExAC |
|
|
CA414964843 rs1428039424 |
235 | I>T | No |
ClinGen gnomAD |
|
|
CA414964860 rs1556038166 |
237 | W>* | No |
ClinGen Ensembl |
|
|
rs1315229974 CA414964894 |
242 | E>Q | No |
ClinGen gnomAD |
|
|
rs1395980346 CA414964931 |
247 | R>C | No |
ClinGen gnomAD |
|
|
rs1311129230 CA414965022 |
259 | N>S | No |
ClinGen gnomAD |
|
|
CA414965034 rs1338193090 |
260 | W>C | No |
ClinGen gnomAD |
|
|
rs1297675725 CA414965058 |
264 | H>Y | No |
ClinGen gnomAD |
|
|
CA414965098 rs1556038180 |
269 | S>F | No |
ClinGen Ensembl |
|
|
rs1602996814 CA414965237 |
282 | R>C | No |
ClinGen Ensembl |
|
|
rs1253912433 CA414965292 |
288 | Y>C | No |
ClinGen gnomAD |
|
|
rs1602996821 CA414965385 |
300 | T>M | No |
ClinGen Ensembl |
|
|
CA414965423 rs1556038199 |
304 | S>F | No |
ClinGen Ensembl |
No associated diseases with A6NKD2
1 regional properties for A6NKD2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Centrosomal protein of 290kDa, coiled-coil region | 1272 - 1399 | IPR032321 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| gonadal mesoderm development | The process whose specific outcome is the progression of the gonadal mesoderm over time, from its formation to the mature structure. The gonadal mesoderm is the middle layer of the three primary germ layers of the embryo which will go on to form the gonads of the organism. |
| nucleosome assembly | The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O19110 | TSPY1 | Testis-specific Y-encoded protein 1 | Bos taurus (Bovine) | PR |
| Q99457 | NAP1L3 | Nucleosome assembly protein 1-like 3 | Homo sapiens (Human) | PR |
| P55209 | NAP1L1 | Nucleosome assembly protein 1-like 1 | Homo sapiens (Human) | PR |
| Q01534 | TSPY1 | Testis-specific Y-encoded protein 1 | Homo sapiens (Human) | PR |
| P0CV99 | TSPY4 | Testis-specific Y-encoded protein 4 | Homo sapiens (Human) | PR |
| P0CV98 | TSPY3 | Testis-specific Y-encoded protein 3 | Homo sapiens (Human) | PR |
| P0CW00 | TSPY8 | Testis-specific Y-encoded protein 8 | Homo sapiens (Human) | PR |
| P0CW01 | TSPY10 | Testis-specific Y-encoded protein 10 | Homo sapiens (Human) | PR |
| Q8N831 | TSPYL6 | Testis-specific Y-encoded-like protein 6 | Homo sapiens (Human) | PR |
| Q9H2G4 | TSPYL2 | Testis-specific Y-encoded-like protein 2 | Homo sapiens (Human) | PR |
| P0DME0 | SETSIP | Protein SETSIP | Homo sapiens (Human) | SS |
| Q01105 | SET | Protein SET | Homo sapiens (Human) | SS |
| Q9H489 | TSPY26P | Putative testis-specific Y-encoded-like protein 3 | Homo sapiens (Human) | PR |
| Q9EQU5 | Set | Protein SET | Mus musculus (Mouse) | EV |
| Q9R1M3 | Tspy1 | Testis-specific Y-encoded protein 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRPEGSLTYR | VPERLRQGSC | GVGRAAQALV | CASAKEGTAF | RMEAVQEGAA | GVESEQAALG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EEAVLLLDDI | MAEVEVVAEE | EGLVERREEA | QRAQQAVPGP | GPMTPESALE | ELLAVQVELE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PVNAQARKAF | SRQREKMERR | RKPHLDRRGA | VIQSVPGFWA | NVIANHPQMS | ALITDEDEDM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LSYMVSLEVE | EEKHRVHLCK | IMLFFRSNPY | FQNKVITKEY | LVNITEYRAS | HSTPIEWYPD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YEVEAYRRRH | HNSSLNFFNW | FSDHNFAGSN | KIAEILCKDL | WRNPLQYYKR | MKPPEEGTET |
| SGDSQLLS |