FNDC3A
gene geneOn this page
Also known as bA203I16.5KIAA0970
Summary
FNDC3A (fibronectin type III domain containing 3A, HGNC:20296) is a protein-coding gene on chromosome 13q14.2, encoding Fibronectin type-III domain-containing protein 3A (Q9Y2H6). Mediates spermatid-Sertoli adhesion during spermatogenesis.
Enables RNA binding activity. Predicted to be involved in spermatid development. Predicted to act upstream of or within Sertoli cell development; cell-cell adhesion; and fertilization. Located in Golgi apparatus.
Source: NCBI Gene 22862 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 174 total
- MANE Select transcript:
NM_001079673
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20296 |
| Approved symbol | FNDC3A |
| Name | fibronectin type III domain containing 3A |
| Location | 13q14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bA203I16.5, KIAA0970 |
| Ensembl gene | ENSG00000102531 |
| Ensembl biotype | protein_coding |
| OMIM | 615794 |
| Entrez | 22862 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 11 protein_coding, 2 nonsense_mediated_decay
ENST00000378383, ENST00000398316, ENST00000484074, ENST00000492622, ENST00000497644, ENST00000541916, ENST00000851214, ENST00000851215, ENST00000934563, ENST00000934564, ENST00000934565, ENST00000971118, ENST00000971119
RefSeq mRNA: 3 — MANE Select: NM_001079673
NM_001079673, NM_001278438, NM_014923
CCDS: CCDS41886, CCDS9413
Canonical transcript exons
ENST00000492622 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000682481 | 49178568 | 49178654 |
| ENSE00000682482 | 49185964 | 49186102 |
| ENSE00000939645 | 49172043 | 49172096 |
| ENSE00001129122 | 49188515 | 49188633 |
| ENSE00001129131 | 49187122 | 49187190 |
| ENSE00001129140 | 49175367 | 49175541 |
| ENSE00001129152 | 49167244 | 49167303 |
| ENSE00001335285 | 49145778 | 49145935 |
| ENSE00001342700 | 49174435 | 49174559 |
| ENSE00001342704 | 49168613 | 49168751 |
| ENSE00001378011 | 49191015 | 49191120 |
| ENSE00001422888 | 48975912 | 48976177 |
| ENSE00001922094 | 49207081 | 49209779 |
| ENSE00003479083 | 49201800 | 49201966 |
| ENSE00003532194 | 49203157 | 49203284 |
| ENSE00003561019 | 49197725 | 49197874 |
| ENSE00003636520 | 49198362 | 49198574 |
| ENSE00003657943 | 49191209 | 49191384 |
| ENSE00003685468 | 49196877 | 49196990 |
| ENSE00003689909 | 49197982 | 49198265 |
| ENSE00003717332 | 49114655 | 49114731 |
| ENSE00003722749 | 49075289 | 49075364 |
| ENSE00003724153 | 49006152 | 49006289 |
| ENSE00003741829 | 49131137 | 49131374 |
| ENSE00003743912 | 49138747 | 49138805 |
| ENSE00003748826 | 49136332 | 49136601 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 97.11.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 55.1087 / max 938.9419, expressed in 1816 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 135111 | 23.3222 | 1762 |
| 135091 | 17.3667 | 1794 |
| 135096 | 8.7795 | 1547 |
| 135090 | 1.4164 | 817 |
| 135100 | 1.2326 | 311 |
| 135098 | 0.6050 | 238 |
| 135099 | 0.5125 | 159 |
| 135093 | 0.4626 | 225 |
| 135095 | 0.3671 | 178 |
| 135097 | 0.3391 | 131 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus epididymis | UBERON:0004359 | 97.11 | gold quality |
| caput epididymis | UBERON:0004358 | 96.64 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.44 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.43 | gold quality |
| cardia of stomach | UBERON:0001162 | 96.40 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.24 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 96.15 | gold quality |
| decidua | UBERON:0002450 | 96.11 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.61 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 95.57 | gold quality |
| placenta | UBERON:0001987 | 95.49 | gold quality |
| body of pancreas | UBERON:0001150 | 95.20 | gold quality |
| urethra | UBERON:0000057 | 95.19 | gold quality |
| blood vessel layer | UBERON:0004797 | 95.18 | gold quality |
| tibia | UBERON:0000979 | 95.13 | gold quality |
| seminal vesicle | UBERON:0000998 | 94.95 | gold quality |
| pericardium | UBERON:0002407 | 94.93 | gold quality |
| superficial temporal artery | UBERON:0001614 | 94.90 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.87 | gold quality |
| endometrium | UBERON:0001295 | 94.79 | gold quality |
| pancreas | UBERON:0001264 | 94.66 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 94.63 | gold quality |
| pylorus | UBERON:0001166 | 94.48 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 94.33 | gold quality |
| parotid gland | UBERON:0001831 | 94.31 | gold quality |
| jejunum | UBERON:0002115 | 94.30 | gold quality |
| colonic epithelium | UBERON:0000397 | 94.28 | gold quality |
| lower lobe of lung | UBERON:0008949 | 94.20 | gold quality |
| mammary duct | UBERON:0001765 | 94.12 | gold quality |
| parietal pleura | UBERON:0002400 | 94.05 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 38.33 |
| E-CURD-119 | yes | 32.73 |
| E-CURD-88 | yes | 13.55 |
| E-HCAD-35 | yes | 7.45 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
241 targeting FNDC3A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
Literature-anchored findings (GeneRIF, showing 4)
- We report the 1st characterization of new gene we named HUGO, and its associated deduced protein sequence. HUGO proteins are mainly composed of a proline-rich region at N-terminus, 8 type III-fibronectin modules, and transmembranous helix at C-terminus. (PMID:18218838)
- The results of this study concluded that FNDC3A influences the prevalence of autism spectrum disorder. (PMID:23639254)
- FAM46C and FNDC3A Are Multiple Myeloma Tumor Suppressors That Act in Concert to Impair Clearing of Protein Aggregates and Autophagy. (PMID:32963011)
- The Interaction of the Tumor Suppressor FAM46C with p62 and FNDC3 Proteins Integrates Protein and Secretory Homeostasis. (PMID:32966780)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fndc3a | ENSDARG00000105503 |
| mus_musculus | Fndc3a | ENSMUSG00000033487 |
| rattus_norvegicus | Fndc3a | ENSRNOG00000014478 |
| drosophila_melanogaster | mtgo | FBGN0259735 |
| caenorhabditis_elegans | WBGENE00007944 |
Paralogs (11): MYOM2 (ENSG00000036448), FNDC3B (ENSG00000075420), MYBPC2 (ENSG00000086967), MYOM1 (ENSG00000101605), OBSL1 (ENSG00000124006), MYBPH (ENSG00000133055), MYBPC3 (ENSG00000134571), MYOM3 (ENSG00000142661), IGSF22 (ENSG00000179057), MYBPC1 (ENSG00000196091), MYBPHL (ENSG00000221986)
Protein
Protein identifiers
Fibronectin type-III domain-containing protein 3A — Q9Y2H6 (reviewed: Q9Y2H6)
Alternative names: Human gene expressed in odontoblasts
All UniProt accessions (4): Q9Y2H6, A0A087X1M6, G5E9X3, H7C507
UniProt curated annotations — full annotation on UniProt →
Function. Mediates spermatid-Sertoli adhesion during spermatogenesis.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Expressed in the odontoblast and nerves in the dental pulp. Also expressed in trachea and to a lesser extent in the brain, liver, lung and kidney.
Similarity. Belongs to the FNDC3 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2H6-1 | 1, HUGO1 | yes |
| Q9Y2H6-2 | 2, HUGO2 |
RefSeq proteins (3): NP_001073141, NP_001265367, NP_055738 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003961 | FN3_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR050617 | E3_ligase_FN3/SPRY | Family |
Pfam: PF00041
UniProt features (74 total): strand 47, domain 9, modified residue 4, sequence conflict 4, compositionally biased region 2, splice variant 2, chain 1, transmembrane region 1, region of interest 1, sequence variant 1, helix 1, turn 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1WK0 | SOLUTION NMR | |
| 1X3D | SOLUTION NMR | |
| 1X4X | SOLUTION NMR | |
| 1X5X | SOLUTION NMR | |
| 2CRM | SOLUTION NMR | |
| 2CRZ | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2H6-F1 | 78.12 | 0.46 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 203, 207, 213, 384
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 351 (showing top):
AAGCAAT_MIR137, GOBP_EPITHELIUM_DEVELOPMENT, TAATAAT_MIR126, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOCC_SECRETORY_GRANULE, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_SERTOLI_CELL_DEVELOPMENT, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, TAKADA_GASTRIC_CANCER_COPY_NUMBER_DN, GOBP_MALE_GAMETE_GENERATION, GOBP_CELL_CELL_ADHESION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, ATTACAT_MIR3803P, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN
GO Biological Process (4): spermatid development (GO:0007286), fertilization (GO:0009566), Sertoli cell development (GO:0060009), cell-cell adhesion (GO:0098609)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (9): Golgi membrane (GO:0000139), acrosomal vesicle (GO:0001669), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), vesicle membrane (GO:0012506), membrane (GO:0016020), endomembrane system (GO:0012505), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 3 |
| germ cell development | 1 |
| spermatid differentiation | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| epithelial cell development | 1 |
| developmental process involved in reproduction | 1 |
| Sertoli cell differentiation | 1 |
| cell adhesion | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| secretory granule | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| vesicle | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
1334 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FNDC3A | MLNR | O43193 | 649 |
| FNDC3A | CDADC1 | Q9BWV3 | 649 |
| FNDC3A | CAB39L | Q9H9S4 | 627 |
| FNDC3A | LPAR6 | P43657 | 531 |
| FNDC3A | RCBTB2 | O95199 | 531 |
| FNDC3A | SETDB2 | Q96T68 | 508 |
| FNDC3A | FNDC4 | Q9H6D8 | 505 |
| FNDC3A | PHF11 | Q9UIL8 | 496 |
| FNDC3A | CYSLTR2 | Q9NS75 | 490 |
| FNDC3A | HLA-DRB1 | P01911 | 453 |
| FNDC3A | ITM2B | Q9Y287 | 453 |
| FNDC3A | LAMA4 | Q16363 | 446 |
| FNDC3A | TMPPE | Q6ZT21 | 417 |
| FNDC3A | PSD3 | Q9NYI0 | 414 |
| FNDC3A | FBLN7 | Q53RD9 | 409 |
IntAct
81 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| ADCY9 | NEMP1 | psi-mi:“MI:0914”(association) | 0.640 |
| IGF1R | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.590 |
| INSR | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.570 |
| DLK1 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| BTNL3 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.530 |
| SPINT2 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM51 | WWP2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC30A2 | RER1 | psi-mi:“MI:0914”(association) | 0.530 |
| IL27RA | B4GALT5 | psi-mi:“MI:0914”(association) | 0.530 |
| SYT3 | PGK2 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEA4 | MAGEB16 | psi-mi:“MI:0914”(association) | 0.530 |
| DLK1 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEA4 | MAGEA8 | psi-mi:“MI:0914”(association) | 0.530 |
| THAP7 | FNDC3A | psi-mi:“MI:0915”(physical association) | 0.400 |
| TRIT1 | FNDC3A | psi-mi:“MI:0915”(physical association) | 0.400 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGR1 | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| CCDC47 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ABTB2 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDH10 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TTMP | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| AVPR2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2D | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| OR1M1 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC12 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (377): FNDC3A (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), FNDC3A (Proximity Label-MS), FNDC3A (Proximity Label-MS), FNDC3A (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), FNDC3A (Affinity Capture-MS)
ESM2 similar proteins: A0A087WV53, A2AAJ9, A2ABU4, A2RUH7, E7F6H7, O00423, O01761, O14576, O54785, O70468, O88485, O88599, P16419, P22607, P26453, P52179, P53670, P53671, P54296, P56741, P70402, Q00872, Q02173, Q05623, Q05BC3, Q0DYP5, Q13203, Q14168, Q14324, Q14896, Q29RQ3, Q32L23, Q4V8C3, Q5FW53, Q5PQM4, Q5VST9, Q5VTT5, Q5XI81, Q5XKE0, Q60992
Diamond homologs: A2ASQ1, A2ASS6, A3KN33, A8DYP0, B4F785, O00468, O35474, O43854, O55005, O88516, O89026, O94779, P00740, P25304, P29294, P35590, Q05793, Q06561, Q16787, Q4LDE5, Q4VBE4, Q5R7K9, Q5RBN1, Q63HQ2, Q7TPD3, Q8N9C0, Q8TER0, Q8WZ42, Q95ND7, Q96MS0, Q9HCK4, Q9NYJ7, Q9NYQ8, Q9Y2H6, Q9Y6N7, Q9Z2I4, D3YXG0, D3Z7H8, D3ZEY0, D4A1J9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
174 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 131 |
| Likely benign | 10 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4457 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:49006146:TTTCA:T | acceptor_loss | 1.0000 |
| 13:49006147:TTCAG:T | acceptor_loss | 1.0000 |
| 13:49006148:TCAGA:T | acceptor_loss | 1.0000 |
| 13:49006149:CAGAA:C | acceptor_loss | 1.0000 |
| 13:49006150:A:AG | acceptor_gain | 1.0000 |
| 13:49006150:A:C | acceptor_loss | 1.0000 |
| 13:49006151:G:GA | acceptor_gain | 1.0000 |
| 13:49006151:GA:G | acceptor_gain | 1.0000 |
| 13:49006151:GAAT:G | acceptor_gain | 1.0000 |
| 13:49006151:GAATT:G | acceptor_gain | 1.0000 |
| 13:49006288:AGGTA:A | donor_loss | 1.0000 |
| 13:49006291:T:G | donor_loss | 1.0000 |
| 13:49075284:TTAA:T | acceptor_loss | 1.0000 |
| 13:49075285:TAA:T | acceptor_loss | 1.0000 |
| 13:49075286:A:AG | acceptor_gain | 1.0000 |
| 13:49075286:AAG:A | acceptor_gain | 1.0000 |
| 13:49075287:A:G | acceptor_gain | 1.0000 |
| 13:49075287:A:T | acceptor_loss | 1.0000 |
| 13:49075288:G:GG | acceptor_gain | 1.0000 |
| 13:49075288:GGTT:G | acceptor_gain | 1.0000 |
| 13:49075361:ACAG:A | donor_loss | 1.0000 |
| 13:49075362:CAG:C | donor_loss | 1.0000 |
| 13:49075364:GGTAA:G | donor_loss | 1.0000 |
| 13:49075365:G:A | donor_loss | 1.0000 |
| 13:49075366:T:G | donor_loss | 1.0000 |
| 13:49131132:TGTA:T | acceptor_loss | 1.0000 |
| 13:49131134:TA:T | acceptor_loss | 1.0000 |
| 13:49131135:AGGT:A | acceptor_loss | 1.0000 |
| 13:49131136:G:GA | acceptor_loss | 1.0000 |
| 13:49131368:GAT:G | donor_gain | 1.0000 |
AlphaMissense
7822 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:49168746:T:A | W391R | 1.000 |
| 13:49168746:T:C | W391R | 1.000 |
| 13:49145809:T:C | L284P | 0.999 |
| 13:49168735:T:C | L387P | 0.999 |
| 13:49168748:G:C | W391C | 0.999 |
| 13:49168748:G:T | W391C | 0.999 |
| 13:49174545:T:A | N447K | 0.999 |
| 13:49174545:T:G | N447K | 0.999 |
| 13:49175470:T:A | W487R | 0.999 |
| 13:49175470:T:C | W487R | 0.999 |
| 13:49175472:G:C | W487C | 0.999 |
| 13:49175472:G:T | W487C | 0.999 |
| 13:49186099:T:A | W585R | 0.999 |
| 13:49186099:T:C | W585R | 0.999 |
| 13:49191117:T:A | W683R | 0.999 |
| 13:49191117:T:C | W683R | 0.999 |
| 13:49196985:T:A | W779R | 0.999 |
| 13:49196985:T:C | W779R | 0.999 |
| 13:49196987:G:C | W779C | 0.999 |
| 13:49196987:G:T | W779C | 0.999 |
| 13:49197758:T:G | Y792D | 0.999 |
| 13:49197765:T:C | L794P | 0.999 |
| 13:49203201:T:A | W1067R | 0.999 |
| 13:49203201:T:C | W1067R | 0.999 |
| 13:49203203:G:C | W1067C | 0.999 |
| 13:49203203:G:T | W1067C | 0.999 |
| 13:49207148:G:C | R1117P | 0.999 |
| 13:49145814:T:A | W286R | 0.998 |
| 13:49145814:T:C | W286R | 0.998 |
| 13:49168615:T:A | V347D | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000002133 (13:49141984 C>T), RS1000002524 (13:49053130 C>T), RS1000010205 (13:49117012 G>T), RS1000018539 (13:49116256 G>A), RS1000058265 (13:48983429 T>A), RS1000073205 (13:49164751 G>T), RS1000076084 (13:48983643 C>G), RS1000086698 (13:49064551 C>T), RS1000099423 (13:49023127 A>C), RS1000121873 (13:49109298 C>A), RS1000124876 (13:49152712 C>T), RS1000148675 (13:49087235 T>C), RS1000154395 (13:49103865 T>C), RS1000155248 (13:49072766 G>A), RS1000173915 (13:49090210 CAG>C)
Disease associations
OMIM: gene MIM:615794 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003226_25 | Pelvic organ prolapse | 9.000000e-06 |
| GCST005537_114 | Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | 1.000000e-07 |
| GCST008154_42 | Trunk fat mass | 9.000000e-06 |
| GCST008180_14 | Spontaneous preterm birth with premature rupture of membranes | 7.000000e-06 |
| GCST010241_97 | Apolipoprotein A1 levels | 1.000000e-12 |
| GCST010242_369 | HDL cholesterol levels | 2.000000e-10 |
| GCST010796_5080 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_5081 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-08 |
| GCST010796_5082 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006917 | spontaneous preterm birth |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression, decreases methylation, affects cotreatment | 8 |
| sodium arsenite | increases abundance, increases expression, affects binding, increases reaction, decreases expression | 5 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Cyclosporine | increases expression | 3 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation, increases expression | 3 |
| bisphenol A | affects methylation, affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | affects cotreatment, affects methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ankylosing spondylitis, pelvic organ prolapse, preterm premature rupture of the membranes, sclerosing cholangitis