CAND2
gene geneOn this page
Also known as TIP120BKIAA0667Tp120b
Summary
CAND2 (cullin associated and neddylation dissociated 2 (putative), HGNC:30689) is a protein-coding gene on chromosome 3p25.2, encoding Cullin-associated NEDD8-dissociated protein 2 (O75155). Probable assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate-recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes.
Predicted to enable TBP-class protein binding activity. Predicted to be involved in SCF complex assembly; positive regulation of DNA-templated transcription; and protein ubiquitination. Located in cytosol.
Source: NCBI Gene 23066 — RefSeq curated summary.
At a glance
- GWAS associations: 27
- Clinical variants (ClinVar): 272 total
- MANE Select transcript:
NM_001162499
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30689 |
| Approved symbol | CAND2 |
| Name | cullin associated and neddylation dissociated 2 (putative) |
| Location | 3p25.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TIP120B, KIAA0667, Tp120b |
| Ensembl gene | ENSG00000144712 |
| Ensembl biotype | protein_coding |
| OMIM | 610403 |
| Entrez | 23066 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000295989, ENST00000446928, ENST00000456430, ENST00000466558, ENST00000626378, ENST00000650119, ENST00000856238, ENST00000917140, ENST00000949513, ENST00000949514
RefSeq mRNA: 2 — MANE Select: NM_001162499
NM_001162499, NM_012298
CCDS: CCDS43053, CCDS54554
Canonical transcript exons
ENST00000456430 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000966686 | 12803488 | 12803631 |
| ENSE00000966687 | 12810059 | 12810324 |
| ENSE00000966688 | 12812990 | 12813095 |
| ENSE00000966689 | 12813246 | 12813388 |
| ENSE00000966690 | 12815141 | 12815433 |
| ENSE00000966691 | 12815867 | 12816008 |
| ENSE00000966692 | 12816374 | 12817876 |
| ENSE00000966695 | 12827440 | 12827604 |
| ENSE00001161869 | 12820086 | 12820181 |
| ENSE00001619886 | 12807306 | 12807460 |
| ENSE00001650494 | 12825470 | 12825639 |
| ENSE00001723434 | 12796680 | 12796788 |
| ENSE00001794332 | 12833755 | 12834803 |
| ENSE00003515140 | 12808210 | 12808333 |
| ENSE00004472062 | 12831465 | 12831572 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 99.13.
FANTOM5 (CAGE): breadth broad, TPM avg 4.2475 / max 114.1299, expressed in 854 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 35393 | 4.0083 | 835 |
| 35392 | 0.2392 | 138 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.13 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.60 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.53 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.43 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.19 | gold quality |
| biceps brachii | UBERON:0001507 | 98.06 | gold quality |
| triceps brachii | UBERON:0001509 | 97.94 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.55 | gold quality |
| sperm | CL:0000019 | 96.84 | gold quality |
| deltoid | UBERON:0001476 | 96.79 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.33 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.31 | gold quality |
| muscle organ | UBERON:0001630 | 96.12 | gold quality |
| body of tongue | UBERON:0011876 | 96.02 | gold quality |
| male germ cell | CL:0000015 | 95.69 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.69 | gold quality |
| diaphragm | UBERON:0001103 | 95.41 | gold quality |
| endothelial cell | CL:0000115 | 95.40 | gold quality |
| muscle of leg | UBERON:0001383 | 95.34 | gold quality |
| tibialis anterior | UBERON:0001385 | 95.07 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.82 | gold quality |
| muscle tissue | UBERON:0002385 | 94.80 | gold quality |
| heart right ventricle | UBERON:0002080 | 94.20 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 94.11 | gold quality |
| myocardium | UBERON:0002349 | 93.62 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 93.12 | gold quality |
| apex of heart | UBERON:0002098 | 91.62 | gold quality |
| adult organism | UBERON:0007023 | 90.02 | gold quality |
| oocyte | CL:0000023 | 90.01 | gold quality |
| cardiac ventricle | UBERON:0002082 | 89.53 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.27 |
| E-MTAB-9543 | no | 1.22 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYOD1
miRNA regulators (miRDB)
25 targeting CAND2, 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-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-4324 | 99.04 | 70.14 | 1569 |
| HSA-MIR-4424 | 98.91 | 70.33 | 1145 |
| HSA-MIR-4724-5P | 98.87 | 67.75 | 1324 |
| HSA-MIR-7851-3P | 98.72 | 64.88 | 980 |
| HSA-MIR-490-3P | 97.79 | 65.54 | 606 |
| HSA-MIR-4308 | 97.56 | 67.13 | 1385 |
| HSA-MIR-6890-3P | 97.50 | 65.71 | 997 |
| HSA-MIR-7160-3P | 96.40 | 64.15 | 462 |
| HSA-MIR-3622B-5P | 94.62 | 64.58 | 835 |
Literature-anchored findings (GeneRIF, showing 7)
- TIP120B was induced in C2C12 myoblasts when these cells differentiated into myotubes (TIP120B). (PMID:12207886)
- TIP120B is a specific substrate of KIAA10; both are highly expressed in human skeletal muscle, suggesting that KIAA10 may regulate TIP120B homeostasis specifically in this tissue. (PMID:12692129)
- Based on these results it is unlikely CAND2 and WNT7a are the major genes that causes clubfoot. (PMID:19159115)
- results suggest that MyoD and TIP120B potentiate each other at gene expression and post-translation levels, respectively, which may promote myogenesis cooperatively (PMID:22613845)
- NEURL rs12415501 and CAND2 rs4642101 are significantly associated with postoperative atrial fibrillation susceptibility after coronary artery bypass grafting among Chinese population (PMID:27203392)
- The work developed the tool and performed “interaction analyses within chromatin regulatory circuitry” (IACRC); analysis found CAND2 may be a novel obesity susceptibility gene. (PMID:29717274)
- Muscle-specific Cand2 is translationally upregulated by mTORC1 and promotes adverse cardiac remodeling. (PMID:34605609)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cand2 | ENSMUSG00000030319 |
| rattus_norvegicus | Cand2 | ENSRNOG00000010473 |
| drosophila_melanogaster | Cand1 | FBGN0027568 |
| caenorhabditis_elegans | WBGENE00013606 |
Paralogs (1): CAND1 (ENSG00000111530)
Protein
Protein identifiers
Cullin-associated NEDD8-dissociated protein 2 — O75155 (reviewed: O75155)
Alternative names: Cullin-associated and neddylation-dissociated protein 2, Epididymis tissue protein Li 169, TBP-interacting protein of 120 kDa B, p120 CAND2
All UniProt accessions (3): O75155, A0A3B3ISC4, F8WBB8
UniProt curated annotations — full annotation on UniProt →
Function. Probable assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate-recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes.
Subunit / interactions. Binds TBP, CNOT3 and UBE3C.
Subcellular location. Nucleus.
Tissue specificity. Expressed in epididymis (at protein level).
Post-translational modifications. Ubiquitinated and targeted for proteasomal degradation.
Similarity. Belongs to the CAND family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75155-1 | 1 | yes |
| O75155-2 | 2 |
RefSeq proteins (2): NP_001155971, NP_036430 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR013932 | TATA-bd_TIP120 | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR039852 | CAND1/CAND2 | Family |
Pfam: PF08623, PF13513, PF25782
UniProt features (136 total): helix 75, repeat 26, turn 9, strand 9, sequence variant 8, splice variant 3, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8VVY | ELECTRON MICROSCOPY | 3.49 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75155-F1 | 87.14 | 0.57 |
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 (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 101 (showing top):
BROWNE_HCMV_INFECTION_14HR_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, CERVERA_SDHB_TARGETS_1_UP, MULLIGHAN_MLL_SIGNATURE_1_UP, GOMF_TRANSCRIPTION_FACTOR_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOMF_TBP_CLASS_PROTEIN_BINDING, WONG_ADULT_TISSUE_STEM_MODULE, MARTENS_TRETINOIN_RESPONSE_DN, KIM_BIPOLAR_DISORDER_OLIGODENDROCYTE_DENSITY_CORR_UP, CHICAS_RB1_TARGETS_CONFLUENT, LEE_BMP2_TARGETS_DN, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_UP, PLASARI_TGFB1_TARGETS_10HR_DN, PEDRIOLI_MIR31_TARGETS_DN
GO Biological Process (3): SCF complex assembly (GO:0010265), protein ubiquitination (GO:0016567), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (2): TBP-class protein binding (GO:0017025), protein binding (GO:0005515)
GO Cellular Component (2): nucleus (GO:0005634), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein-containing complex assembly | 1 |
| protein modification by small protein conjugation | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| general transcription initiation factor binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
745 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CAND2 | TBP | P20226 | 694 |
| CAND2 | NEURL1 | O76050 | 635 |
| CAND2 | SYNPO2L | Q9H987 | 581 |
| CAND2 | SKP1 | P34991 | 476 |
| CAND2 | NEDD8 | Q15843 | 470 |
| CAND2 | CUX2 | O14529 | 447 |
| CAND2 | AOPEP | Q8N6M6 | 447 |
| CAND2 | GPR50 | Q13585 | 438 |
| CAND2 | CUL1 | Q13616 | 423 |
| CAND2 | MTNR1A | P48039 | 418 |
| CAND2 | ELOC | Q15369 | 410 |
| CAND2 | LRRC58 | Q96CX6 | 407 |
| CAND2 | ZFHX3 | Q15911 | 398 |
| CAND2 | ZNF860 | A6NHJ4 | 392 |
| CAND2 | RBX1 | P62877 | 390 |
IntAct
96 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SCN2B | EXOC5 | psi-mi:“MI:0914”(association) | 0.640 |
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| IL13RA2 | CHEK1 | psi-mi:“MI:0914”(association) | 0.640 |
| CAND2 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAND2 | SYP | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAND2 | FHL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EGFR | NDUFA4 | psi-mi:“MI:0914”(association) | 0.530 |
| ARRDC4 | WWP2 | psi-mi:“MI:0914”(association) | 0.530 |
| CXCR4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| HTR2C | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR4 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| NPY2R | RTL8C | psi-mi:“MI:0914”(association) | 0.530 |
| EFNB2 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.530 |
| PTGER3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.530 |
| EPHA1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| RNF7 | SOCS7 | psi-mi:“MI:0914”(association) | 0.530 |
| STOM | EI24 | psi-mi:“MI:0914”(association) | 0.510 |
| CAND2 | GLP1R | psi-mi:“MI:0915”(physical association) | 0.510 |
| CAND2 | psi-mi:“MI:0914”(association) | 0.460 | |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TPTE | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| BCL2L14 | psi-mi:“MI:0914”(association) | 0.350 | |
| P2RY6 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC15A3 | psi-mi:“MI:0914”(association) | 0.350 | |
| UNC93B1 | psi-mi:“MI:0914”(association) | 0.350 | |
| P2RY6 | psi-mi:“MI:0914”(association) | 0.350 | |
| P2RY6 | RAVER1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZFC3H1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TEX101 | PSMD12 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (138): CAND2 (Affinity Capture-MS), CAND2 (Affinity Capture-MS), CAND2 (Affinity Capture-MS), CAND2 (Affinity Capture-MS), CAND2 (Affinity Capture-MS), CAND2 (Affinity Capture-MS), CAND2 (Affinity Capture-MS), CAND2 (Affinity Capture-MS), CAND2 (Affinity Capture-MS), CAND2 (Affinity Capture-MS), CAND2 (Co-fractionation), CAND2 (Co-fractionation), NAA15 (Co-fractionation), CAND2 (Affinity Capture-MS), CAND2 (Affinity Capture-MS)
ESM2 similar proteins: A0JMW2, A2VE70, A5WW24, A7E2Y6, B9EJR8, E0CZ22, E1BP36, E7FBU4, O35638, O43156, O70576, O75155, Q08AM6, Q0P5A6, Q0V9L1, Q16401, Q5IFJ8, Q5JTH9, Q5R6L5, Q5ZIW5, Q5ZKD5, Q66L58, Q68F38, Q6DCF2, Q6P5B0, Q6ZQ73, Q7TMY7, Q80W92, Q80WQ2, Q84ZC0, Q86Y56, Q8C0Y0, Q8K2V6, Q8NDA8, Q8WVM7, Q91V83, Q96T76, Q99M76, Q9BPX3, Q9D071
Diamond homologs: A7MBJ5, G5ED41, O75155, P97536, Q5BAH2, Q5R6L5, Q6ZQ38, Q6ZQ73, Q86KD1, Q86VP6, Q8L5Y6, Q9R0L4, Q9VKY2
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CNOT3 | unknown | CAND2 | binding |
| UBE3C | “down-regulates quantity by destabilization” | CAND2 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 124 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of cytosolic calcium ion concentration | 10 | 10.8× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
272 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 231 |
| Likely benign | 14 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2687 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:12803484:GCA:G | acceptor_loss | 1.0000 |
| 3:12803485:CAG:C | acceptor_loss | 1.0000 |
| 3:12803486:A:G | acceptor_loss | 1.0000 |
| 3:12803629:GTG:G | donor_gain | 1.0000 |
| 3:12803632:G:GG | donor_gain | 1.0000 |
| 3:12803632:GTGA:G | donor_loss | 1.0000 |
| 3:12803633:T:G | donor_loss | 1.0000 |
| 3:12803634:GAGTG:G | donor_loss | 1.0000 |
| 3:12808205:TGCA:T | acceptor_loss | 1.0000 |
| 3:12808206:GCAGG:G | acceptor_loss | 1.0000 |
| 3:12808207:CA:C | acceptor_loss | 1.0000 |
| 3:12808208:A:AG | acceptor_gain | 1.0000 |
| 3:12808209:G:GT | acceptor_gain | 1.0000 |
| 3:12808209:GGC:G | acceptor_gain | 1.0000 |
| 3:12808209:GGCT:G | acceptor_gain | 1.0000 |
| 3:12808299:G:GT | donor_gain | 1.0000 |
| 3:12808326:C:G | donor_gain | 1.0000 |
| 3:12810321:CTCGG:C | donor_loss | 1.0000 |
| 3:12810322:TCGG:T | donor_loss | 1.0000 |
| 3:12810323:CGG:C | donor_loss | 1.0000 |
| 3:12810325:G:GA | donor_loss | 1.0000 |
| 3:12810325:G:GG | donor_gain | 1.0000 |
| 3:12812985:TGCA:T | acceptor_loss | 1.0000 |
| 3:12812987:CAGGG:C | acceptor_loss | 1.0000 |
| 3:12812988:A:AG | acceptor_gain | 1.0000 |
| 3:12812988:AG:A | acceptor_gain | 1.0000 |
| 3:12812988:AGG:A | acceptor_gain | 1.0000 |
| 3:12812988:AGGG:A | acceptor_gain | 1.0000 |
| 3:12812989:G:GA | acceptor_loss | 1.0000 |
| 3:12812989:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
7960 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:12796788:G:C | R23T | 1.000 |
| 3:12796788:G:T | R23M | 1.000 |
| 3:12803493:T:C | M25T | 1.000 |
| 3:12803494:G:A | M25I | 1.000 |
| 3:12803494:G:C | M25I | 1.000 |
| 3:12803494:G:T | M25I | 1.000 |
| 3:12803508:T:C | L30P | 1.000 |
| 3:12803619:T:C | L67P | 1.000 |
| 3:12827455:T:C | F1076L | 1.000 |
| 3:12827457:T:A | F1076L | 1.000 |
| 3:12827457:T:G | F1076L | 1.000 |
| 3:12796781:G:A | D21N | 0.999 |
| 3:12796781:G:C | D21H | 0.999 |
| 3:12796782:A:C | D21A | 0.999 |
| 3:12796782:A:G | D21G | 0.999 |
| 3:12796782:A:T | D21V | 0.999 |
| 3:12796783:C:A | D21E | 0.999 |
| 3:12796783:C:G | D21E | 0.999 |
| 3:12803488:G:C | R23S | 0.999 |
| 3:12803488:G:T | R23S | 0.999 |
| 3:12803489:T:C | F24L | 0.999 |
| 3:12803491:C:A | F24L | 0.999 |
| 3:12803491:C:G | F24L | 0.999 |
| 3:12803493:T:A | M25K | 0.999 |
| 3:12803495:G:C | A26P | 0.999 |
| 3:12803496:C:A | A26D | 0.999 |
| 3:12803586:T:C | L56P | 0.999 |
| 3:12803594:G:C | D59H | 0.999 |
| 3:12803595:A:C | D59A | 0.999 |
| 3:12803595:A:T | D59V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000253727 (3:12826462 G>A,C), RS1000300230 (3:12832517 C>T), RS1000300696 (3:12810689 A>G), RS1000354316 (3:12831670 G>C), RS1000374868 (3:12794680 CTTTTTTTTTTTT>C,CT,CTTTT,CTTTTT,CTTTTTT,CTTTTTTT,CTTTTTTTT,CTTTTTTTTT,CTTTTTTTTTT,CTTTTTTTTTTT,CTTTTTTTTTTTTT,CTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTT), RS1000443222 (3:12812740 A>G), RS1000447550 (3:12801651 C>G), RS1000519062 (3:12816977 G>A), RS1000545848 (3:12833265 TGCTTACACTCCG>T), RS1000550195 (3:12816844 G>A), RS1000732004 (3:12826638 C>T), RS1000736165 (3:12806073 T>C,G), RS1000761758 (3:12826815 G>A), RS1000787754 (3:12806013 G>C), RS1000872007 (3:12801477 G>A,T)
Disease associations
OMIM: gene MIM:610403 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
27 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004826_1 | P wave duration | 2.000000e-08 |
| GCST005956_72 | Waist-to-hip ratio adjusted for BMI | 1.000000e-07 |
| GCST005957_11 | Waist-to-hip ratio adjusted for BMI (age <50) | 9.000000e-06 |
| GCST005958_19 | Waist-to-hip ratio adjusted for BMI (age >50) | 2.000000e-06 |
| GCST005962_29 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 9.000000e-09 |
| GCST006014_6 | Creatine kinase levels | 8.000000e-11 |
| GCST006061_37 | Atrial fibrillation | 5.000000e-23 |
| GCST006061_75 | Atrial fibrillation | 4.000000e-22 |
| GCST006414_74 | Atrial fibrillation | 2.000000e-24 |
| GCST008161_95 | Waist circumference adjusted for body mass index | 3.000000e-06 |
| GCST010724_6 | HOMA-B (corrected for HOMA-IR) | 1.000000e-07 |
| GCST010796_261 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-13 |
| GCST010796_262 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-12 |
| GCST010796_263 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-13 |
| GCST010796_264 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-13 |
| GCST010796_265 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-09 |
| GCST010796_266 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-09 |
| GCST010796_267 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-09 |
| GCST010796_268 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-09 |
| GCST010796_269 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-08 |
| GCST010796_270 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-10 |
| GCST010796_271 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-09 |
| GCST010796_272 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-10 |
| GCST010796_273 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-10 |
| GCST010796_274 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-10 |
| GCST90020025_1936 | Waist-to-hip ratio adjusted for BMI | 1.000000e-08 |
| GCST90020027_167 | Waist-hip index | 3.000000e-09 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005094 | P wave duration |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004534 | creatine kinase measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0004469 | HOMA-B |
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 3 |
| (+)-JQ1 compound | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | affects methylation | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | decreases methylation, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Metals, Heavy | decreases methylation, increases abundance | 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.