ARB2A
gene geneOn this page
Also known as DKFZP564D172Toupee
Summary
ARB2A (ARB2 cotranscriptional regulator A, HGNC:25365) is a protein-coding gene on chromosome 5q15, encoding Cotranscriptional regulator ARB2A (Q8WUF8). Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7.
Predicted to contribute to siRNA binding activity. Predicted to be involved in neural crest cell development; regulation of alternative mRNA splicing, via spliceosome; and regulatory ncRNA-mediated heterochromatin formation. Located in endoplasmic reticulum.
Source: NCBI Gene 83989 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 109 total — 5 pathogenic, 2 likely-pathogenic
- MANE Select transcript:
NM_032042
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25365 |
| Approved symbol | ARB2A |
| Name | ARB2 cotranscriptional regulator A |
| Location | 5q15 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP564D172, Toupee |
| Ensembl gene | ENSG00000113391 |
| Ensembl biotype | protein_coding |
| OMIM | 621249 |
| Entrez | 83989 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 14 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000395965, ENST00000502503, ENST00000504768, ENST00000505869, ENST00000506398, ENST00000509163, ENST00000509739, ENST00000510445, ENST00000511139, ENST00000881903, ENST00000881904, ENST00000881905, ENST00000881906, ENST00000881907, ENST00000881908, ENST00000881909, ENST00000881910, ENST00000933325, ENST00000950072
RefSeq mRNA: 3 — MANE Select: NM_032042
NM_001163417, NM_001163418, NM_032042
CCDS: CCDS4069, CCDS54879, CCDS54880
Canonical transcript exons
ENST00000395965 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001666024 | 93881470 | 93881688 |
| ENSE00001799102 | 93776159 | 93776243 |
| ENSE00001914830 | 94111511 | 94111663 |
| ENSE00001926306 | 93617725 | 93621129 |
| ENSE00003540712 | 94050731 | 94050831 |
| ENSE00003557198 | 93958777 | 93958968 |
| ENSE00003568241 | 93964458 | 93964523 |
| ENSE00003606945 | 93824148 | 93824267 |
| ENSE00003629078 | 94053126 | 94053227 |
| ENSE00003655593 | 94074646 | 94074769 |
| ENSE00003690770 | 93784383 | 93784499 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 96.29.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.6228 / max 320.8463, expressed in 1785 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 62611 | 21.6515 | 1776 |
| 62610 | 2.9526 | 1319 |
| 62608 | 1.8152 | 1013 |
| 62595 | 1.3676 | 624 |
| 62609 | 0.3601 | 151 |
| 62594 | 0.2647 | 122 |
| 62607 | 0.2112 | 72 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 96.29 | gold quality |
| tendon | UBERON:0000043 | 93.74 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.85 | silver quality |
| caput epididymis | UBERON:0004358 | 91.79 | gold quality |
| cranial nerve II | UBERON:0000941 | 91.41 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.00 | gold quality |
| corpus epididymis | UBERON:0004359 | 90.40 | gold quality |
| paraflocculus | UBERON:0005351 | 90.39 | gold quality |
| cortical plate | UBERON:0005343 | 89.77 | gold quality |
| cauda epididymis | UBERON:0004360 | 89.66 | gold quality |
| bronchial epithelial cell | CL:0002328 | 89.50 | gold quality |
| adrenal tissue | UBERON:0018303 | 89.29 | gold quality |
| stromal cell of endometrium | CL:0002255 | 89.26 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.06 | gold quality |
| seminal vesicle | UBERON:0000998 | 89.02 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.94 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 87.98 | gold quality |
| ventricular zone | UBERON:0003053 | 87.93 | gold quality |
| endothelial cell | CL:0000115 | 87.81 | gold quality |
| sural nerve | UBERON:0015488 | 87.63 | gold quality |
| entorhinal cortex | UBERON:0002728 | 87.16 | gold quality |
| medial globus pallidus | UBERON:0002477 | 87.04 | gold quality |
| upper leg skin | UBERON:0004262 | 86.14 | gold quality |
| frontal pole | UBERON:0002795 | 85.99 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.86 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.79 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 85.34 | gold quality |
| parietal pleura | UBERON:0002400 | 85.13 | gold quality |
| corpus callosum | UBERON:0002336 | 85.12 | gold quality |
| mammary duct | UBERON:0001765 | 85.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.06 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
126 targeting ARB2A, 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
Literature-anchored findings (GeneRIF, showing 11)
- The changes of C5orf21 gene expression are correlated with diabetic macroangiopathy. (PMID:20137623)
- FAM172 protein expression in human aortic smooth muscle cells was up-regulated by high glucose levels in a concentration-dependent and time-course manner. (PMID:20818486)
- FAM172A protein promotes cell proliferation, inhibits cell apoptosis and facilitates S-phase entry in HEK293 cells. (PMID:21092515)
- FAM172A protein is expressed at high levels in human papillary thyroid carcinoma, which may promote cell proliferation via activation of the p38 MAPK signaling pathway. (PMID:26573560)
- FAM172A might play a role in the carcinogenesis of CRC by inhibiting the growth and invasion of CRC cells. The mechanisms by which FAM172A exerts its function seem to involve activation of ERS signaling. (PMID:26637224)
- our study showed that miR27a expression is a diagnostic and prognostic marker and correlates with overall survival of patients with CRC. Therefore, it may be a therapeutic approach for preventing metastasis of CRC to inhibit expression of miR27a or increase expression of FAM172A. (PMID:28440497)
- Mesenchymal circulating tumor cells and FAM172A detection may predict highrisk stage II colorectal cancer. Our research proved that circulating tumor cells were feasible surrogate samples to detect gene expression and could serve as a predictive biomarker for tumor evaluation (PMID:28618931)
- FAM172A recombinant protein could induce proliferation of HepG2 cells, in which the MAPK/ERK and PI3K/Akt signaling pathways might be involved. The role of FAM172A in HepG2 cell proliferation also indicated its possible involvement in hepatocellular carcinoma. (PMID:31915594)
- FAM172A inhibits EMT in pancreatic cancer via ERK-MAPK signaling. (PMID:31988090)
- FAM172A promotes follicular thyroid carcinogenesis and may be a marker of FTC. (PMID:33095186)
- The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import. (PMID:37221016)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arb2a | ENSDARG00000052697 |
| mus_musculus | Arb2a | ENSMUSG00000064138 |
| rattus_norvegicus | Arb2a | ENSRNOG00000013844 |
| drosophila_melanogaster | CG10038 | FBGN0038013 |
| caenorhabditis_elegans | WBGENE00013561 |
Protein
Protein identifiers
Cotranscriptional regulator ARB2A — Q8WUF8 (reviewed: Q8WUF8)
Alternative names: ARB2 cotranscriptional regulator A, Cotranscriptional regulator FAM172A, Protein FAM172A
All UniProt accessions (3): Q8WUF8, B4DMI0, E9PBM2
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. May have hydrolase activity.
Subunit / interactions. Interacts with AGO2. Found in a complex, composed of AGO2, CHD7 and ARB2A.
Subcellular location. Nucleus. Cytoplasm. Endoplasmic reticulum.
Similarity. Belongs to the ARB2A family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WUF8-1 | 1 | yes |
| Q8WUF8-2 | 2 | |
| Q8WUF8-3 | 3 | |
| Q8WUF8-4 | 4 |
RefSeq proteins (3): NP_001156889, NP_001156890, NP_114431* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029058 | AB_hydrolase_fold | Homologous_superfamily |
| IPR048263 | Arb2 | Family |
| IPR053858 | Arb2_dom | Domain |
Pfam: PF22749
UniProt features (13 total): sequence variant 3, splice variant 3, signal peptide 1, chain 1, sequence conflict 1, region of interest 1, short sequence motif 1, compositionally biased region 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WUF8-F1 | 84.01 | 0.65 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 293 (nucleophile)
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 178 (showing top):
AAGCAAT_MIR137, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, PAX8_B, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, GOBP_RNA_SPLICING, GOBP_REGULATION_OF_MRNA_SPLICING_VIA_SPLICEOSOME, GOBP_MESENCHYME_DEVELOPMENT, GOBP_STEM_CELL_DIFFERENTIATION, YYCATTCAWW_UNKNOWN, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOBP_NEURAL_CREST_CELL_DIFFERENTIATION
GO Biological Process (5): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA processing (GO:0006397), RNA splicing (GO:0008380), neural crest cell development (GO:0014032), regulatory ncRNA-mediated heterochromatin formation (GO:0031048)
GO Molecular Function (2): protein binding (GO:0005515), siRNA binding (GO:0035197)
GO Cellular Component (3): nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| intracellular membrane-bounded organelle | 2 |
| alternative mRNA splicing, via spliceosome | 1 |
| regulation of mRNA splicing, via spliceosome | 1 |
| mRNA metabolic process | 1 |
| neural crest cell differentiation | 1 |
| stem cell development | 1 |
| regulatory ncRNA-mediated gene silencing | 1 |
| heterochromatin formation | 1 |
| binding | 1 |
| regulatory RNA binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
510 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARB2A | PLAC8L1 | A1L4L8 | 710 |
| ARB2A | POU5F2 | Q8N7G0 | 612 |
| ARB2A | GRIK3 | Q13003 | 601 |
| ARB2A | NR2F1 | P10589 | 577 |
| ARB2A | SLF1 | Q9BQI6 | 572 |
| ARB2A | MCTP1 | Q6DN14 | 551 |
| ARB2A | PCYOX1 | Q9UHG3 | 517 |
| ARB2A | KIAA0825 | Q8IV33 | 505 |
| ARB2A | CPPED1 | Q9BRF8 | 486 |
| ARB2A | NR2F2 | P24468 | 433 |
| ARB2A | C5orf47 | Q569G3 | 431 |
| ARB2A | PRR33 | A8MZF0 | 400 |
| ARB2A | RNPC3 | Q96LT9 | 394 |
| ARB2A | BRAF | P15056 | 387 |
| ARB2A | PRDM10 | Q9NQV6 | 377 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| SKP1 | MYCBP2 | psi-mi:“MI:0914”(association) | 0.640 |
| ATXN7L3 | USP27X | psi-mi:“MI:0914”(association) | 0.640 |
| FGL1 | LCMT2 | psi-mi:“MI:0914”(association) | 0.640 |
| MESD | ARB2A | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIR3DL2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| TANK | TRAF5 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF331 | USP9Y | psi-mi:“MI:0914”(association) | 0.530 |
| ATP5F1D | NDUFB5 | psi-mi:“MI:0914”(association) | 0.530 |
| DEFB1 | NMT2 | psi-mi:“MI:0914”(association) | 0.530 |
| DNAJC3 | DEDD | psi-mi:“MI:0914”(association) | 0.530 |
| Dynll1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| METTL14 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| STYX | BANF1 | psi-mi:“MI:0914”(association) | 0.350 |
| STYX | PAK4 | psi-mi:“MI:0914”(association) | 0.350 |
| TAOK2 | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| FGL1 | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | BHLHE40 | psi-mi:“MI:0914”(association) | 0.350 |
| TTC9C | PLD2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZXDB | SETD1A | psi-mi:“MI:0914”(association) | 0.350 |
| RBX1 | OBSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CHAF1B | KDM4A | psi-mi:“MI:0914”(association) | 0.350 |
| DHX34 | ARG2 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJB9 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | RNASET2 | psi-mi:“MI:0914”(association) | 0.350 |
| TTC9C | LIPA | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (38): FAM172A (Affinity Capture-MS), FAM172A (Co-fractionation), FAM172A (Affinity Capture-MS), FAM172A (Affinity Capture-MS), FAM172A (Affinity Capture-MS), FAM172A (Affinity Capture-MS), FAM172A (Affinity Capture-MS), FAM172A (Affinity Capture-MS), FAM172A (Affinity Capture-MS), FAM172A (Affinity Capture-MS), FAM172A (Affinity Capture-MS), FAM172A (Proximity Label-MS), MESDC2 (Two-hybrid), FAM172A (Affinity Capture-MS), FAM172A (Affinity Capture-MS)
ESM2 similar proteins: A6NC97, A6QQL3, D3ZGS3, F1S5L4, O74429, O94830, P06623, P09543, P13233, P16330, P97564, Q01968, Q0P464, Q10271, Q2TBM9, Q30DN6, Q3TNH5, Q5GJ77, Q5PQK1, Q5REG8, Q5RFD0, Q5SNQ7, Q5XUN4, Q5ZK44, Q61586, Q62240, Q6DIP8, Q6IQX0, Q6J5K9, Q6P5U7, Q7T297, Q7YTB0, Q80Y84, Q8C650, Q8CIG3, Q8NB78, Q8T773, Q8VHT6, Q8W1S1, Q8WUF8
Diamond homologs: A6NC97, Q3TNH5, Q5ZK44, Q6DIP8, Q7T297, Q8WUF8, Q557B6, Q95RN0, Q9XW78
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
109 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 2 |
| Uncertain significance | 84 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (7)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3062838 | GRCh37/hg19 5q14.3-15(chr5:91884840-93976422)x1 | Pathogenic |
| 563091 | GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1 | Pathogenic |
| 59667 | GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1 | Pathogenic |
| 59670 | GRCh38/hg38 5q15(chr5:93598243-94237822)x1 | Pathogenic |
| 686679 | GRCh37/hg19 5q15(chr5:92386982-94865113)x1 | Pathogenic |
| 152045 | GRCh38/hg38 5q14.3-15(chr5:92031269-93947338)x1 | Likely pathogenic |
| 3062820 | GRCh37/hg19 5q15(chr5:92845157-93475376)x1 | Likely pathogenic |
SpliceAI
5418 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:93621127:TGCC:T | acceptor_loss | 1.0000 |
| 5:93621128:GC:G | acceptor_gain | 1.0000 |
| 5:93621128:GCC:G | acceptor_loss | 1.0000 |
| 5:93621129:CC:C | acceptor_gain | 1.0000 |
| 5:93621129:CCTGC:C | acceptor_loss | 1.0000 |
| 5:93621130:C:A | acceptor_loss | 1.0000 |
| 5:93621130:C:CC | acceptor_gain | 1.0000 |
| 5:93621131:T:G | acceptor_loss | 1.0000 |
| 5:93784377:TCTCA:T | donor_loss | 1.0000 |
| 5:93784378:CTCAC:C | donor_loss | 1.0000 |
| 5:93784379:TCACC:T | donor_loss | 1.0000 |
| 5:93784380:CACCT:C | donor_loss | 1.0000 |
| 5:93784381:ACCTC:A | donor_loss | 1.0000 |
| 5:93784382:C:T | donor_loss | 1.0000 |
| 5:93784500:C:CC | acceptor_gain | 1.0000 |
| 5:93785403:T:TC | acceptor_gain | 1.0000 |
| 5:93824143:CTTA:C | donor_loss | 1.0000 |
| 5:93824144:TTA:T | donor_loss | 1.0000 |
| 5:93824145:TACCA:T | donor_loss | 1.0000 |
| 5:93824146:A:AC | donor_gain | 1.0000 |
| 5:93824146:AC:A | donor_gain | 1.0000 |
| 5:93824146:ACC:A | donor_loss | 1.0000 |
| 5:93824147:C:CG | donor_gain | 1.0000 |
| 5:93824147:CC:C | donor_gain | 1.0000 |
| 5:93824147:CCA:C | donor_gain | 1.0000 |
| 5:93824147:CCAG:C | donor_gain | 1.0000 |
| 5:93824147:CCAGT:C | donor_gain | 1.0000 |
| 5:93824263:TTTTC:T | acceptor_gain | 1.0000 |
| 5:93824264:TTTC:T | acceptor_gain | 1.0000 |
| 5:93824266:TC:T | acceptor_gain | 1.0000 |
AlphaMissense
2757 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:93776177:A:G | C364R | 1.000 |
| 5:93776229:C:A | W346C | 1.000 |
| 5:93776229:C:G | W346C | 1.000 |
| 5:93776230:C:G | W346S | 1.000 |
| 5:93776231:A:G | W346R | 1.000 |
| 5:93776231:A:T | W346R | 1.000 |
| 5:93784394:A:G | W338R | 1.000 |
| 5:93784394:A:T | W338R | 1.000 |
| 5:93784441:G:A | S322F | 1.000 |
| 5:93784442:A:G | S322P | 1.000 |
| 5:93784444:T:A | D321V | 1.000 |
| 5:93784445:C:G | D321H | 1.000 |
| 5:93784453:G:T | A318E | 1.000 |
| 5:93824149:A:G | L302P | 1.000 |
| 5:93824167:C:T | G296E | 1.000 |
| 5:93824168:C:G | G296R | 1.000 |
| 5:93824168:C:T | G296R | 1.000 |
| 5:93824170:C:A | G295V | 1.000 |
| 5:93824170:C:T | G295E | 1.000 |
| 5:93824171:C:G | G295R | 1.000 |
| 5:93824171:C:T | G295R | 1.000 |
| 5:93824175:G:C | S293R | 1.000 |
| 5:93824175:G:T | S293R | 1.000 |
| 5:93824176:C:A | S293I | 1.000 |
| 5:93824177:T:G | S293R | 1.000 |
| 5:93958811:C:T | G178D | 1.000 |
| 5:93958812:C:G | G178R | 1.000 |
| 5:93958849:C:A | W165C | 1.000 |
| 5:93958849:C:G | W165C | 1.000 |
| 5:93958850:C:G | W165S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000010610 (5:93972771 G>A), RS1000011429 (5:93828155 G>A,T), RS1000012584 (5:93822595 T>C), RS1000019332 (5:93852330 G>A), RS1000025956 (5:93749363 T>A), RS1000032702 (5:93628463 G>A), RS1000033667 (5:94019496 T>C), RS1000034057 (5:93841439 C>T), RS1000035061 (5:93678714 C>T), RS1000048037 (5:93908785 A>G), RS1000058388 (5:94024861 T>G), RS1000059474 (5:93926605 T>C,G), RS1000065944 (5:94110291 T>G), RS1000067036 (5:93635944 A>C), RS1000077305 (5:94110046 A>G)
Disease associations
OMIM: gene MIM:621249 | 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 |
|---|---|---|
| GCST006881_7 | Hippocampal tail volume (corrected for total hippocampal volume) | 3.000000e-09 |
| GCST010132_4 | Processed meat consumption | 9.000000e-10 |
| GCST010136_8 | Fruit consumption | 1.000000e-08 |
| GCST010143_22 | Meat-related diet | 6.000000e-11 |
| GCST010701_76 | Cortical surface area (MOSTest) | 4.000000e-09 |
| GCST010702_129 | Subcortical volume (MOSTest) | 2.000000e-15 |
| GCST010703_4 | Brain morphology (MOSTest) | 5.000000e-34 |
| GCST012490_468 | Femur bone mineral density x serum urate levels interaction | 6.000000e-10 |
| GCST90093325_8 | Language functional connectivity | 2.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004531 | urate measurement |
| EFO:0007797 | language measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation | 6 |
| Valproic Acid | affects expression, decreases expression | 3 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| geldanamycin | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| jinfukang | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Atrazine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Mercuric Chloride | decreases expression | 1 |
| Mustard Gas | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | increases expression | 1 |
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.