ANKRD13A
gene geneOn this page
Also known as NY-REN-25
Summary
ANKRD13A (ankyrin repeat domain 13A, HGNC:21268) is a protein-coding gene on chromosome 12q24.11, encoding Ankyrin repeat domain-containing protein 13A (Q8IZ07). Ubiquitin-binding protein that specifically recognizes and binds ‘Lys-63’-linked ubiquitin.
Enables ubiquitin-modified protein reader activity. Involved in negative regulation of protein localization to endosome and negative regulation of receptor internalization. Located in late endosome; perinuclear region of cytoplasm; and plasma membrane.
Source: NCBI Gene 88455 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 79 total
- MANE Select transcript:
NM_033121
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21268 |
| Approved symbol | ANKRD13A |
| Name | ankyrin repeat domain 13A |
| Location | 12q24.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NY-REN-25 |
| Ensembl gene | ENSG00000076513 |
| Ensembl biotype | protein_coding |
| OMIM | 615123 |
| Entrez | 88455 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 17 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000261739, ENST00000546476, ENST00000547419, ENST00000547639, ENST00000549826, ENST00000550404, ENST00000551491, ENST00000553025, ENST00000553246, ENST00000553251, ENST00000907288, ENST00000907289, ENST00000907290, ENST00000907291, ENST00000907292, ENST00000907293, ENST00000939845, ENST00000939846, ENST00000939847, ENST00000939848, ENST00000949447, ENST00000949448, ENST00000949449
RefSeq mRNA: 1 — MANE Select: NM_033121
NM_033121
CCDS: CCDS9140
Canonical transcript exons
ENST00000261739 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002216022 | 110024046 | 110024112 |
| ENSE00002353288 | 109999430 | 109999784 |
| ENSE00002363473 | 110037359 | 110039763 |
| ENSE00003467475 | 110036261 | 110036328 |
| ENSE00003481323 | 110029478 | 110029635 |
| ENSE00003482636 | 110025742 | 110025823 |
| ENSE00003500653 | 110027705 | 110027766 |
| ENSE00003501883 | 110018345 | 110018488 |
| ENSE00003504807 | 110019139 | 110019328 |
| ENSE00003536566 | 110016388 | 110016433 |
| ENSE00003590833 | 110013125 | 110013249 |
| ENSE00003615964 | 110012005 | 110012137 |
| ENSE00003628799 | 110030645 | 110030758 |
| ENSE00003650611 | 110028512 | 110028642 |
| ENSE00003680952 | 110033797 | 110033957 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 98.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.8470 / max 899.3934, expressed in 1821 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 127958 | 29.6356 | 1821 |
| 127959 | 0.2114 | 30 |
Top tissues by expression
261 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 98.61 | gold quality |
| amniotic fluid | UBERON:0000173 | 98.06 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.89 | gold quality |
| buccal mucosa cell | CL:0002336 | 97.70 | gold quality |
| adult organism | UBERON:0007023 | 97.59 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 97.53 | gold quality |
| sperm | CL:0000019 | 97.39 | gold quality |
| blood | UBERON:0000178 | 97.16 | gold quality |
| upper leg skin | UBERON:0004262 | 96.88 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 96.66 | gold quality |
| oviduct epithelium | UBERON:0004804 | 96.55 | gold quality |
| penis | UBERON:0000989 | 96.50 | gold quality |
| parotid gland | UBERON:0001831 | 96.48 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.39 | gold quality |
| skin of hip | UBERON:0001554 | 96.31 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.10 | gold quality |
| secondary oocyte | CL:0000655 | 96.08 | gold quality |
| placenta | UBERON:0001987 | 96.07 | gold quality |
| oral cavity | UBERON:0000167 | 96.05 | gold quality |
| monocyte | CL:0000576 | 95.99 | gold quality |
| leukocyte | CL:0000738 | 95.93 | gold quality |
| tonsil | UBERON:0002372 | 95.82 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 95.82 | gold quality |
| bone marrow | UBERON:0002371 | 95.70 | gold quality |
| vermiform appendix | UBERON:0001154 | 95.63 | gold quality |
| nipple | UBERON:0002030 | 95.63 | gold quality |
| tendon | UBERON:0000043 | 95.58 | gold quality |
| bone element | UBERON:0001474 | 95.48 | gold quality |
| lymph node | UBERON:0000029 | 95.45 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.39 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.71 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
157 targeting ANKRD13A, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
Literature-anchored findings (GeneRIF, showing 6)
- overexpression of wild-type as well as truncated-mutant Ankrd 13A, 13B and 13D proteins strongly inhibited rapid endocytosis of ubiquitinated EGFR from the surface in EGF-treated cells (PMID:22298428)
- the microRNA miR-204 promotes both mesenchymal neural crest and lens cell migration and elongation by the direct targeting of the Ankrd13A gene. (PMID:23620728)
- We validated ANKRD13A as a novel constituent of BCR signalosome and showed that BCR-induced phosphorylation of RAB7A at S72 regulates its association with its effector proteins and with endo-lysosomal compartments. (PMID:26038114)
- The Ankrd13 family of ubiquitin-interacting motif (UIM)-containing proteins are novel VCP-interacting molecules in the endosome. (PMID:26797118)
- LncRNA USP30-AS1 promotes the survival of acute myeloid leukemia cells by cis-regulating USP30 and ANKRD13A. (PMID:34694569)
- ANKRD13a controls early cell-death checkpoint by interacting with RIP1 independent of NF-kappaB. (PMID:34839354)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ankrd13a | ENSDARG00000061901 |
| mus_musculus | Ankrd13a | ENSMUSG00000041870 |
| rattus_norvegicus | Ankrd13a | ENSRNOG00000001204 |
| drosophila_melanogaster | CG15118 | FBGN0034418 |
| caenorhabditis_elegans | WBGENE00015978 |
Paralogs (3): ANKRD13C (ENSG00000118454), ANKRD13D (ENSG00000172932), ANKRD13B (ENSG00000198720)
Protein
Protein identifiers
Ankyrin repeat domain-containing protein 13A — Q8IZ07 (reviewed: Q8IZ07)
Alternative names: Protein KE03
All UniProt accessions (6): Q8IZ07, F8W150, H0YIN8, Q3ZTS7, S4R3D2, S4R3U2
UniProt curated annotations — full annotation on UniProt →
Function. Ubiquitin-binding protein that specifically recognizes and binds ‘Lys-63’-linked ubiquitin. Does not bind ‘Lys-48’-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane.
Subunit / interactions. Interacts (via the UIM 3 and 4 repeats) with EGFR (ubiquitinated); the interaction is direct, inhibited by ANKRD13A monoubiquitination and may regulate EGFR internalization.
Subcellular location. Cell membrane. Late endosome.
Post-translational modifications. Monoubiquitinated, inhibits interaction with ubiquitinated EGFR.
Domain organisation. The UIM repeats 3 and 4 are required for binding to ubiquitinated EGFR and ‘Lys-63’-linked ubiquitin.
RefSeq proteins (1): NP_149112* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR003903 | UIM_dom | Conserved_site |
| IPR021832 | ANKRD13 | Family |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
| IPR055285 | ANKRD13_C | Domain |
Pfam: PF11904, PF12796
UniProt features (16 total): mutagenesis site 4, domain 4, repeat 2, sequence conflict 2, modified residue 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IZ07-F1 | 74.08 | 0.20 |
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 (2): 205, 586
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 491–495 | no effect on ’lys-63’-linked ubiquitin binding and interaction with egfr. no effect on ’lys-63’-linked ubiquitin binding |
| 527–531 | no effect on ’lys-63’-linked ubiquitin binding and interaction with egfr. no effect on ’lys-63’-linked ubiquitin binding |
| 557–561 | slightly inhibits ’lys-63’-linked ubiquitin binding and strongly inhibits interaction with egfr. no effect on ’lys-63’-l |
| 582–586 | abolishes ’lys-63’-linked ubiquitin binding and strongly inhibits interaction with egfr. abolishes ’lys-63’-linked ubiqu |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 198 (showing top):
MODULE_255, MODULE_317, GOBP_NEGATIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_REGULATION_OF_RECEPTOR_INTERNALIZATION, GOBP_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS, TGIF_01, ZIC1_01, GOBP_RECEPTOR_INTERNALIZATION
GO Biological Process (2): negative regulation of receptor internalization (GO:0002091), negative regulation of protein localization to endosome (GO:1905667)
GO Molecular Function (2): ubiquitin-modified protein reader activity (GO:0140036), protein binding (GO:0005515)
GO Cellular Component (7): cytoplasm (GO:0005737), late endosome (GO:0005770), plasma membrane (GO:0005886), perinuclear region of cytoplasm (GO:0048471), endosome (GO:0005768), endomembrane system (GO:0012505), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| regulation of receptor internalization | 1 |
| receptor internalization | 1 |
| negative regulation of receptor-mediated endocytosis | 1 |
| protein localization to endosome | 1 |
| negative regulation of protein localization | 1 |
| regulation of protein localization to endosome | 1 |
| ubiquitin-like protein reader activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| endosome | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
790 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANKRD13A | C12orf43 | Q96C57 | 532 |
| ANKRD13A | VCP | P55072 | 513 |
| ANKRD13A | UBASH3A | P57075 | 477 |
| ANKRD13A | GPHA2 | Q96T91 | 433 |
| ANKRD13A | UBXN6 | Q9BZV1 | 383 |
| ANKRD13A | MMAB | Q96EY8 | 376 |
| ANKRD13A | ENKD1 | Q9H0I2 | 366 |
| ANKRD13A | TTC39C | Q8N584 | 352 |
| ANKRD13A | PPP2R5B | Q15173 | 349 |
| ANKRD13A | UBASH3B | Q8TF42 | 346 |
| ANKRD13A | C2orf69 | Q8N8R5 | 342 |
| ANKRD13A | G3V325 | G3V325 | 336 |
| ANKRD13A | TMEM25 | Q86YD3 | 336 |
| ANKRD13A | GLTP | Q9NZD2 | 333 |
| ANKRD13A | SMIM14 | Q96QK8 | 332 |
IntAct
156 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ENTREP1 | WWP2 | psi-mi:“MI:0914”(association) | 0.850 |
| TSPAN5 | ADAM10 | psi-mi:“MI:0914”(association) | 0.800 |
| ARRDC3 | WWP2 | psi-mi:“MI:0914”(association) | 0.770 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CSNK1G3 | CSNK1G2 | psi-mi:“MI:0914”(association) | 0.640 |
| GNAI3 | RGS12 | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| MS4A10 | NEDD4 | psi-mi:“MI:0914”(association) | 0.590 |
| ASB7 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| ZDHHC11 | APOB | psi-mi:“MI:0914”(association) | 0.530 |
| RALB | DBT | psi-mi:“MI:0914”(association) | 0.530 |
| ARRDC4 | WWP2 | psi-mi:“MI:0914”(association) | 0.530 |
| LDLRAD4 | WWP2 | psi-mi:“MI:0914”(association) | 0.530 |
| IZUMO1 | ADCY3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRF1 | NMT2 | psi-mi:“MI:0914”(association) | 0.530 |
| PI4K2A | GABARAP | psi-mi:“MI:0914”(association) | 0.530 |
| ENTREP3 | NEDD4 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM31 | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| CCR6 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| SCAMP2 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.530 |
| DLK1 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (201): ANKRD13A (Two-hybrid), UBC (Reconstituted Complex), ANKRD13A (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), ANKRD13A (Co-fractionation), ANKRD13A (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8FDW4, A4QP73, A4UMC5, B4NYQ2, B5X0I6, C4R2L0, D4A6D7, O09012, O70525, O74711, P33292, P50542, Q01495, Q1RMV0, Q29RR5, Q2M2R8, Q2TXF0, Q54MD1, Q5AV00, Q5F259, Q5R4F4, Q5U2Y6, Q5ZMQ9, Q6BM14, Q6CT48, Q6DI35, Q6DKK2, Q6FM42, Q6K687, Q6PD24, Q6ZTN6, Q752X0, Q80UP5, Q86YJ7, Q8C437, Q8CC21, Q8IYB4, Q8IZ07, Q8L611, Q920N5
Diamond homologs: A4II29, Q28C34, Q3UX43, Q5F259, Q5U5A6, Q6NRD0, Q6PD24, Q6ZTN6, Q7T3Y0, Q7Z6K4, Q7ZUV0, Q7ZYD9, Q80UP5, Q86WC6, Q86YJ7, Q8IZ07, Q8N6S4, Q91ZA8, Q9D119, Q9TXQ1, Q3V096, P42570, Q0VC93, Q28FJ2, Q4JHE0, Q569N2, Q7Z713
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SMURF1 | unknown | ANKRD13A | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 202 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Amino acid transport across the plasma membrane | 5 | 11.5× | 8e-03 |
| R-HSA-425366 | 7 | 9.7× | 2e-03 |
| SLC-mediated transmembrane transport | 15 | 6.8× | 4e-06 |
| Transport of small molecules | 20 | 3.8× | 7e-05 |
| Neutrophil degranulation | 18 | 3.2× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| post-Golgi vesicle-mediated transport | 5 | 29.6× | 6e-04 |
| amino acid transport | 6 | 10.5× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
79 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 61 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2586 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:109999782:CAGG:C | donor_loss | 1.0000 |
| 12:109999783:AGGT:A | donor_loss | 1.0000 |
| 12:109999784:GGTG:G | donor_loss | 1.0000 |
| 12:109999785:GT:G | donor_loss | 1.0000 |
| 12:109999786:T:A | donor_loss | 1.0000 |
| 12:110012003:A:AG | acceptor_gain | 1.0000 |
| 12:110012003:A:AT | acceptor_loss | 1.0000 |
| 12:110012004:G:GT | acceptor_gain | 1.0000 |
| 12:110012004:G:T | acceptor_loss | 1.0000 |
| 12:110012004:GA:G | acceptor_gain | 1.0000 |
| 12:110012004:GAAT:G | acceptor_gain | 1.0000 |
| 12:110012133:GACAG:G | donor_gain | 1.0000 |
| 12:110012134:ACAG:A | donor_gain | 1.0000 |
| 12:110012135:CAG:C | donor_gain | 1.0000 |
| 12:110012135:CAGGT:C | donor_loss | 1.0000 |
| 12:110012136:AG:A | donor_gain | 1.0000 |
| 12:110012137:GG:G | donor_gain | 1.0000 |
| 12:110012138:G:GG | donor_gain | 1.0000 |
| 12:110013121:CTA:C | acceptor_loss | 1.0000 |
| 12:110013122:TA:T | acceptor_loss | 1.0000 |
| 12:110013123:A:AG | acceptor_gain | 1.0000 |
| 12:110013123:AG:A | acceptor_loss | 1.0000 |
| 12:110013124:G:GA | acceptor_gain | 1.0000 |
| 12:110013124:GTT:G | acceptor_gain | 1.0000 |
| 12:110013124:GTTTT:G | acceptor_gain | 1.0000 |
| 12:110013217:G:GT | donor_gain | 1.0000 |
| 12:110019131:A:AG | acceptor_gain | 1.0000 |
| 12:110019134:A:AG | acceptor_gain | 1.0000 |
| 12:110019136:TAG:T | acceptor_loss | 1.0000 |
| 12:110019137:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
3914 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:110012131:T:A | W75R | 1.000 |
| 12:110012131:T:C | W75R | 1.000 |
| 12:110013136:G:C | A81P | 1.000 |
| 12:110016415:T:A | W128R | 1.000 |
| 12:110016415:T:C | W128R | 1.000 |
| 12:110025781:C:A | R281S | 1.000 |
| 12:110025782:G:C | R281P | 1.000 |
| 12:110025794:T:C | L285P | 1.000 |
| 12:110012048:T:C | L47P | 0.999 |
| 12:110013137:C:A | A81D | 0.999 |
| 12:110016421:T:C | F130L | 0.999 |
| 12:110016422:T:C | F130S | 0.999 |
| 12:110016423:C:A | F130L | 0.999 |
| 12:110016423:C:G | F130L | 0.999 |
| 12:110016427:A:C | S132R | 0.999 |
| 12:110016429:C:A | S132R | 0.999 |
| 12:110016429:C:G | S132R | 0.999 |
| 12:110016430:T:A | W133R | 0.999 |
| 12:110016430:T:C | W133R | 0.999 |
| 12:110018392:A:G | K150E | 0.999 |
| 12:110018394:A:C | K150N | 0.999 |
| 12:110018394:A:T | K150N | 0.999 |
| 12:110018408:T:C | L155P | 0.999 |
| 12:110018410:C:A | R156S | 0.999 |
| 12:110018411:G:C | R156P | 0.999 |
| 12:110018467:A:C | S175R | 0.999 |
| 12:110018469:T:A | S175R | 0.999 |
| 12:110018469:T:G | S175R | 0.999 |
| 12:110025781:C:G | R281G | 0.999 |
| 12:110028569:T:C | Y335H | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000103581 (12:110009129 T>C), RS1000136168 (12:110008863 C>A,T), RS1000198569 (12:110015291 C>T), RS1000324268 (12:110008909 ATT>A,AT,ATTT), RS1000424766 (12:110008633 C>G), RS1000661736 (12:110007379 T>C), RS1000712311 (12:110007067 C>T), RS1000830052 (12:110037365 C>G), RS1000908268 (12:110003834 C>A), RS1000987362 (12:110013808 T>C), RS1001038671 (12:110030817 G>A), RS1001050760 (12:110022895 T>C), RS1001178337 (12:110029982 C>T), RS1001251619 (12:110029072 T>A), RS1001356161 (12:110014499 T>C)
Disease associations
OMIM: gene MIM:615123 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001822_15 | Metabolite levels (MHPG) | 4.000000e-07 |
| GCST007267_131 | Systolic blood pressure | 3.000000e-08 |
| GCST008103_145 | Bipolar disorder | 3.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005133 | MHPG measurement |
| EFO:0006335 | systolic blood pressure |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression, affects cotreatment, increases methylation | 4 |
| sodium arsenite | increases expression, decreases expression, affects cotreatment, increases abundance | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| trichostatin A | affects expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dexamethasone | affects cotreatment, increases expression, decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression, decreases expression | 1 |
| Lead | affects expression | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Phthalic Acids | affects methylation | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression, decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1JI | Abcam HeLa ANKRD13A KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.