R3HDM2
gene geneOn this page
Also known as KIAA1002
Summary
R3HDM2 (R3H domain containing 2, HGNC:29167) is a protein-coding gene on chromosome 12q13.3, encoding R3H domain-containing protein 2 (Q9Y2K5).
Enables RNA binding activity. Predicted to be located in nucleus.
Source: NCBI Gene 22864 — RefSeq curated summary.
At a glance
- GWAS associations: 41
- Clinical variants (ClinVar): 115 total
- MANE Select transcript:
NM_001394031
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29167 |
| Approved symbol | R3HDM2 |
| Name | R3H domain containing 2 |
| Location | 12q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1002 |
| Ensembl gene | ENSG00000179912 |
| Ensembl biotype | protein_coding |
| OMIM | 619886 |
| Entrez | 22864 |
Gene structure
Transcript identifiers
Ensembl transcripts: 38 — 32 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000347140, ENST00000358907, ENST00000393811, ENST00000402412, ENST00000403821, ENST00000429355, ENST00000441731, ENST00000448732, ENST00000546843, ENST00000547019, ENST00000547262, ENST00000548161, ENST00000551465, ENST00000552428, ENST00000634871, ENST00000878709, ENST00000878710, ENST00000878711, ENST00000878712, ENST00000878713, ENST00000878714, ENST00000878715, ENST00000878716, ENST00000878717, ENST00000938444, ENST00000938445, ENST00000938446, ENST00000938447, ENST00000938448, ENST00000945075, ENST00000945076, ENST00000945077, ENST00000945078, ENST00000945080, ENST00000945081, ENST00000945082, ENST00000945084, ENST00000945085
RefSeq mRNA: 19 — MANE Select: NM_001394031
NM_001330121, NM_001330122, NM_001330123, NM_001351204, NM_001351205, NM_001351206, NM_001351207, NM_001351208, NM_001351209, NM_001351211, NM_001351212, NM_001351213, NM_001351214, NM_001351215, NM_001351216, NM_001351217, NM_001351218, NM_001394031, NM_014925
CCDS: CCDS81703, CCDS81704, CCDS8937, CCDS91709
Canonical transcript exons
ENST00000402412 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001413378 | 57395749 | 57395818 |
| ENSE00001600262 | 57310264 | 57310463 |
| ENSE00001621494 | 57296411 | 57296551 |
| ENSE00001672243 | 57289009 | 57289040 |
| ENSE00001733477 | 57297328 | 57297387 |
| ENSE00003532094 | 57295399 | 57295507 |
| ENSE00003547281 | 57300095 | 57300181 |
| ENSE00003647704 | 57303176 | 57303217 |
| ENSE00003660960 | 57299352 | 57299478 |
| ENSE00003678513 | 57298090 | 57298168 |
| ENSE00003693661 | 57292572 | 57292667 |
| ENSE00003702721 | 57266731 | 57266831 |
| ENSE00003703758 | 57258890 | 57259059 |
| ENSE00003704043 | 57255990 | 57256074 |
| ENSE00003704416 | 57268922 | 57269082 |
| ENSE00003705690 | 57253764 | 57255113 |
| ENSE00003705703 | 57268303 | 57268457 |
| ENSE00003707774 | 57283824 | 57284056 |
| ENSE00003708784 | 57256414 | 57256511 |
| ENSE00003709217 | 57280358 | 57280530 |
| ENSE00003709733 | 57269752 | 57269994 |
| ENSE00003709897 | 57269323 | 57269449 |
| ENSE00003710695 | 57257990 | 57258137 |
| ENSE00003938657 | 57430720 | 57431043 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 98.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.5841 / max 459.3157, expressed in 1803 samples.
FANTOM5 promoters (15 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131680 | 13.6792 | 1772 |
| 131679 | 5.3880 | 1686 |
| 131667 | 0.7009 | 363 |
| 131662 | 0.4030 | 165 |
| 131681 | 0.3675 | 179 |
| 131672 | 0.3056 | 61 |
| 131677 | 0.1632 | 58 |
| 131671 | 0.1517 | 54 |
| 131670 | 0.1302 | 46 |
| 131676 | 0.0721 | 39 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 10 | UBERON:0013541 | 98.55 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.42 | gold quality |
| frontal pole | UBERON:0002795 | 97.71 | gold quality |
| paraflocculus | UBERON:0005351 | 97.71 | gold quality |
| sural nerve | UBERON:0015488 | 97.63 | gold quality |
| buccal mucosa cell | CL:0002336 | 97.15 | gold quality |
| pons | UBERON:0000988 | 97.06 | gold quality |
| superior surface of tongue | UBERON:0007371 | 96.96 | gold quality |
| vena cava | UBERON:0004087 | 96.75 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 96.73 | gold quality |
| body of tongue | UBERON:0011876 | 96.60 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.48 | gold quality |
| cortical plate | UBERON:0005343 | 96.41 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.37 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.35 | gold quality |
| corpus callosum | UBERON:0002336 | 96.35 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 96.34 | gold quality |
| tongue | UBERON:0001723 | 96.23 | gold quality |
| cerebellum | UBERON:0002037 | 96.19 | gold quality |
| cardia of stomach | UBERON:0001162 | 96.11 | gold quality |
| medulla oblongata | UBERON:0001896 | 96.07 | gold quality |
| trachea | UBERON:0003126 | 95.97 | gold quality |
| colonic epithelium | UBERON:0000397 | 95.96 | gold quality |
| diaphragm | UBERON:0001103 | 95.93 | silver quality |
| saphenous vein | UBERON:0007318 | 95.93 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 95.80 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 95.74 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.73 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 95.66 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 95.62 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.53 |
| E-GEOD-109979 | no | 189.26 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
76 targeting R3HDM2, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | r3hdm2 | ENSDARG00000102610 |
| mus_musculus | R3hdm2 | ENSMUSG00000025404 |
| rattus_norvegicus | R3hdm2 | ENSRNOG00000007801 |
Paralogs (2): R3HDM1 (ENSG00000048991), ARPP21 (ENSG00000172995)
Protein
Protein identifiers
R3H domain-containing protein 2 — Q9Y2K5 (reviewed: Q9Y2K5)
All UniProt accessions (7): Q9Y2K5, A0A0U1RRA6, B5MCG9, B5MCU0, C9J7N6, H0YIX9, H7C0E9
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Nucleus.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2K5-1 | 1 | yes |
| Q9Y2K5-2 | 2 | |
| Q9Y2K5-3 | 3 |
RefSeq proteins (19): NP_001317050, NP_001317051, NP_001317052, NP_001338133, NP_001338134, NP_001338135, NP_001338136, NP_001338137, NP_001338138, NP_001338140, NP_001338141, NP_001338142, NP_001338143, NP_001338144, NP_001338145, NP_001338146, NP_001338147, NP_001380960, NP_055740 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001374 | R3H_dom | Domain |
| IPR024771 | SUZ | Domain |
| IPR036867 | R3H_dom_sf | Homologous_superfamily |
| IPR051937 | R3H_domain_containing | Family |
Pfam: PF01424
UniProt features (46 total): compositionally biased region 13, modified residue 9, region of interest 7, splice variant 4, helix 4, strand 3, domain 2, chain 1, sequence variant 1, sequence conflict 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1WHR | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2K5-F1 | 49.08 | 0.11 |
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 (9): 37, 143, 330, 333, 349, 853, 855, 856, 860
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 121 (showing top):
RORA1_01, TGACCTY_ERR1_Q2, WTGAAAT_UNKNOWN, TGIF_01, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, NKX22_01, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, VDR_Q3, FOXJ2_02, PIT1_Q6, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, MODULE_95, YNGTTNNNATT_UNKNOWN, AR_01, TGGAAA_NFAT_Q4_01
GO Biological Process (0):
GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
798 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| R3HDM2 | INHBC | P55103 | 581 |
| R3HDM2 | ZSCAN30 | Q86W11 | 560 |
| R3HDM2 | SLC17A1 | Q14916 | 493 |
| R3HDM2 | RIPOR1 | Q6ZS17 | 485 |
| R3HDM2 | SLC22A11 | Q9NSA0 | 451 |
| R3HDM2 | PDZK1 | Q5T2W1 | 433 |
| R3HDM2 | ZSCAN23 | Q3MJ62 | 431 |
| R3HDM2 | ARL17B | I3L3L1 | 417 |
| R3HDM2 | CFAP54 | Q96N23 | 413 |
| R3HDM2 | CARMIL1 | Q5VZK9 | 405 |
| R3HDM2 | ARL17A | Q8IVW1 | 400 |
| R3HDM2 | CWH43 | Q9H720 | 399 |
| R3HDM2 | SLC2A9 | Q9NRM0 | 396 |
| R3HDM2 | GPN3 | Q9UHW5 | 388 |
| R3HDM2 | SYTL3 | Q4VX76 | 384 |
IntAct
75 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:0914”(association) | 0.610 |
| R3HDM2 | MEI4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-1 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP12-3 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-3 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP4-12 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLC | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT31 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT34 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ADAMTSL4 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-7 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM42 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP13-3 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEI4 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| INCA1 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| PKM | R3HDM2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAB | BRAF | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAE | DEPDC5 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | BRAF | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (169): R3HDM2 (Two-hybrid), R3HDM2 (Two-hybrid), R3HDM2 (Two-hybrid), FAM168A (Two-hybrid), KRTAP3-2 (Two-hybrid), C1orf94 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), R3HDM2 (Affinity Capture-MS), R3HDM2 (Two-hybrid), R3HDM2 (Two-hybrid), R3HDM2 (Two-hybrid), R3HDM2 (Two-hybrid), R3HDM2 (Two-hybrid)
ESM2 similar proteins: A0A3Q7JC00, A0JM64, A0JNC2, A2VE44, A4IHD9, B2C6R6, B5DE09, B8BCZ8, E7F1H9, F4JT98, O09000, O57539, P78364, Q0WVM7, Q15596, Q17BA4, Q2NLB0, Q3TCX3, Q5RDA3, Q5TP13, Q5ZL54, Q61026, Q64028, Q6GP15, Q6K271, Q6NS15, Q6PEH8, Q71SY5, Q7XYY2, Q7ZVN7, Q80TM6, Q8C7E9, Q8CHY6, Q8HXM1, Q8IZL2, Q8VCB2, Q8W234, Q90WJ3, Q924H2, Q940A7
Diamond homologs: A0JNC2, Q15032, Q80TM6, Q8MSX1, Q9DCB4, Q9UBL0, Q9Y2K5, Q5R6X9, Q7M2N1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 39 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 6 | 182.7× | 2e-11 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 6 | 161.2× | 3e-11 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 6 | 161.2× | 3e-11 |
| Activation of BH3-only proteins | 6 | 119.2× | 2e-10 |
| RHO GTPases activate PKNs | 6 | 76.1× | 2e-09 |
| Intrinsic Pathway for Apoptosis | 6 | 70.3× | 3e-09 |
| SARS-CoV-1-host interactions | 6 | 42.2× | 8e-08 |
| Apoptosis | 6 | 40.3× | 9e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 5 | 63.2× | 3e-06 |
| intracellular protein localization | 6 | 21.7× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
115 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 95 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5683 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:57254999:T:TA | donor_gain | 1.0000 |
| 12:57255114:C:CC | acceptor_gain | 1.0000 |
| 12:57256102:CCCA:C | acceptor_gain | 1.0000 |
| 12:57256105:A:C | acceptor_gain | 1.0000 |
| 12:57258043:AGT:A | donor_gain | 1.0000 |
| 12:57258885:CTCA:C | donor_loss | 1.0000 |
| 12:57258887:CA:C | donor_loss | 1.0000 |
| 12:57258888:A:AC | donor_gain | 1.0000 |
| 12:57258888:ACCTG:A | donor_loss | 1.0000 |
| 12:57258889:C:CC | donor_gain | 1.0000 |
| 12:57258889:C:CT | donor_loss | 1.0000 |
| 12:57259055:CACTC:C | acceptor_gain | 1.0000 |
| 12:57259057:CTC:C | acceptor_gain | 1.0000 |
| 12:57259058:TCC:T | acceptor_loss | 1.0000 |
| 12:57259060:C:CC | acceptor_gain | 1.0000 |
| 12:57259060:CT:C | acceptor_loss | 1.0000 |
| 12:57268371:T:TA | donor_gain | 1.0000 |
| 12:57268866:T:A | donor_gain | 1.0000 |
| 12:57268920:A:AC | donor_gain | 1.0000 |
| 12:57268921:C:CC | donor_gain | 1.0000 |
| 12:57268945:A:AC | donor_gain | 1.0000 |
| 12:57268946:C:CC | donor_gain | 1.0000 |
| 12:57280353:CTCA:C | donor_loss | 1.0000 |
| 12:57280354:TCA:T | donor_loss | 1.0000 |
| 12:57280355:CA:C | donor_loss | 1.0000 |
| 12:57280355:CACCT:C | donor_loss | 1.0000 |
| 12:57280356:ACC:A | donor_loss | 1.0000 |
| 12:57280357:C:A | donor_loss | 1.0000 |
| 12:57284052:TCCCC:T | acceptor_gain | 1.0000 |
| 12:57284053:CCCCC:C | acceptor_gain | 1.0000 |
AlphaMissense
6540 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:57254831:A:T | L958H | 1.000 |
| 12:57254837:A:G | F956S | 1.000 |
| 12:57254879:G:T | A942D | 1.000 |
| 12:57254897:A:G | F936S | 1.000 |
| 12:57254903:G:T | A934D | 1.000 |
| 12:57254924:G:T | A927D | 1.000 |
| 12:57255007:C:A | W899C | 1.000 |
| 12:57255007:C:G | W899C | 1.000 |
| 12:57255008:C:G | W899S | 1.000 |
| 12:57255009:A:G | W899R | 1.000 |
| 12:57255009:A:T | W899R | 1.000 |
| 12:57255035:A:G | L890P | 1.000 |
| 12:57255057:C:G | A883P | 1.000 |
| 12:57255083:A:G | L874P | 1.000 |
| 12:57255083:A:T | L874H | 1.000 |
| 12:57255098:A:G | L869P | 1.000 |
| 12:57283903:G:C | F350L | 1.000 |
| 12:57283903:G:T | F350L | 1.000 |
| 12:57283905:A:G | F350L | 1.000 |
| 12:57283906:G:C | S349R | 1.000 |
| 12:57283906:G:T | S349R | 1.000 |
| 12:57283908:T:G | S349R | 1.000 |
| 12:57283915:T:A | K346N | 1.000 |
| 12:57283915:T:G | K346N | 1.000 |
| 12:57283916:T:A | K346I | 1.000 |
| 12:57283963:G:C | S330R | 1.000 |
| 12:57283963:G:T | S330R | 1.000 |
| 12:57283965:T:G | S330R | 1.000 |
| 12:57283971:A:G | W328R | 1.000 |
| 12:57283971:A:T | W328R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000024056 (12:57342460 A>T), RS1000026389 (12:57309302 A>C), RS1000080453 (12:57302125 A>C), RS1000084620 (12:57419230 G>A), RS1000086461 (12:57306761 T>A,C), RS1000123137 (12:57391865 T>C), RS1000134788 (12:57390958 G>A), RS1000135066 (12:57349795 C>T), RS1000160158 (12:57331322 T>C), RS1000161380 (12:57277293 C>T), RS1000177468 (12:57424159 T>C), RS1000203875 (12:57335434 C>T), RS1000219832 (12:57269098 G>A), RS1000220289 (12:57280105 T>A), RS1000226320 (12:57327675 G>A)
Disease associations
OMIM: gene MIM:619886 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
41 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000818_9 | Urate levels | 2.000000e-11 |
| GCST002539_15 | Schizophrenia | 2.000000e-12 |
| GCST002829_23 | Urate levels in overweight individuals | 2.000000e-07 |
| GCST002829_35 | Urate levels in overweight individuals | 4.000000e-08 |
| GCST004292_54 | Glomerular filtration rate (creatinine) | 2.000000e-07 |
| GCST004521_233 | Autism spectrum disorder or schizophrenia | 4.000000e-10 |
| GCST006613_49 | Triglycerides | 9.000000e-13 |
| GCST006803_97 | Schizophrenia | 3.000000e-11 |
| GCST007576_241 | Chronotype | 2.000000e-09 |
| GCST007876_5 | Estimated glomerular filtration rate | 2.000000e-08 |
| GCST008058_71 | Estimated glomerular filtration rate | 9.000000e-25 |
| GCST008059_52 | Estimated glomerular filtration rate | 1.000000e-26 |
| GCST008062_61 | Blood urea nitrogen levels | 3.000000e-17 |
| GCST008070_35 | HDL cholesterol levels | 3.000000e-09 |
| GCST008070_84 | HDL cholesterol levels | 2.000000e-09 |
| GCST008074_119 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 5.000000e-12 |
| GCST008074_145 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 5.000000e-12 |
| GCST008075_104 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 7.000000e-19 |
| GCST008075_34 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 8.000000e-19 |
| GCST008083_162 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 5.000000e-13 |
| GCST008083_95 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 2.000000e-13 |
| GCST008084_227 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 1.000000e-20 |
| GCST008084_45 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 1.000000e-20 |
| GCST008085_142 | HDL cholesterol levels in current drinkers | 2.000000e-12 |
| GCST008085_23 | HDL cholesterol levels in current drinkers | 1.000000e-12 |
| GCST008158_113 | Body mass index | 3.000000e-06 |
| GCST008747_75 | Estimated glomerular filtration rate | 4.000000e-15 |
| GCST008916_2 | Asthma | 2.000000e-08 |
| GCST008971_117 | Urate levels | 7.000000e-65 |
| GCST010002_217 | Refractive error | 6.000000e-174 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004329 | alcohol drinking |
| EFO:0004340 | body mass index |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0004348 | hematocrit |
| EFO:0005091 | monocyte count |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 4 |
| Benzo(a)pyrene | decreases expression | 3 |
| bisphenol F | increases expression, affects cotreatment, decreases methylation | 2 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| bufotalin | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects 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 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Coumestrol | decreases expression | 1 |
| Dexamethasone | affects cotreatment, 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.