CMYA5
geneOn this page
Also known as SPRYD2DKFZp451G223TRIM76
Summary
CMYA5 (cardiomyopathy associated 5, HGNC:14305) is a protein-coding gene on chromosome 5q14.1, encoding Cardiomyopathy-associated protein 5 (Q8N3K9). May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A.
Predicted to enable identical protein binding activity and protein phosphatase inhibitor activity. Predicted to act upstream of or within negative regulation of calcineurin-NFAT signaling cascade and regulation of skeletal muscle adaptation. Predicted to be located in several cellular components, including costamere; perinuclear region of cytoplasm; and sarcoplasmic reticulum. Predicted to be active in cytoplasm.
Source: NCBI Gene 202333 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 717 total
- MANE Select transcript:
NM_153610
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14305 |
| Approved symbol | CMYA5 |
| Name | cardiomyopathy associated 5 |
| Location | 5q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SPRYD2, DKFZp451G223, TRIM76 |
| Ensembl gene | ENSG00000164309 |
| Ensembl biotype | protein_coding |
| OMIM | 612193 |
| Entrez | 202333 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000446378, ENST00000505466, ENST00000506603, ENST00000856934, ENST00000940890, ENST00000940891, ENST00000940892
RefSeq mRNA: 1 — MANE Select: NM_153610
NM_153610
CCDS: CCDS47238
Canonical transcript exons
ENST00000446378 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001237325 | 79728915 | 79739403 |
| ENSE00001704191 | 79689836 | 79690056 |
| ENSE00001760990 | 79799370 | 79800222 |
| ENSE00001781527 | 79763062 | 79763209 |
| ENSE00003481027 | 79790970 | 79791069 |
| ENSE00003523484 | 79793437 | 79793610 |
| ENSE00003583642 | 79747091 | 79747113 |
| ENSE00003597264 | 79743827 | 79743922 |
| ENSE00003601340 | 79761811 | 79761957 |
| ENSE00003608048 | 79745222 | 79745455 |
| ENSE00003644892 | 79752676 | 79752794 |
| ENSE00003654101 | 79788971 | 79789104 |
| ENSE00003677029 | 79758753 | 79758902 |
Expression profiles
Bgee: expression breadth ubiquitous, 224 present calls, max score 99.96.
FANTOM5 (CAGE): breadth broad, TPM avg 12.1205 / max 3678.6110, expressed in 347 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 57254 | 10.0696 | 300 |
| 57253 | 0.8801 | 47 |
| 57255 | 0.5614 | 66 |
| 57276 | 0.1620 | 40 |
| 57275 | 0.0962 | 24 |
| 57278 | 0.0683 | 22 |
| 57277 | 0.0591 | 22 |
| 57274 | 0.0567 | 12 |
| 57272 | 0.0505 | 19 |
| 57270 | 0.0500 | 17 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibialis anterior | UBERON:0001385 | 99.96 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 99.91 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.90 | gold quality |
| deltoid | UBERON:0001476 | 99.88 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.86 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.84 | gold quality |
| biceps brachii | UBERON:0001507 | 99.84 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.83 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 99.81 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.81 | gold quality |
| myocardium | UBERON:0002349 | 99.80 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.74 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.67 | gold quality |
| heart right ventricle | UBERON:0002080 | 99.61 | gold quality |
| muscle of leg | UBERON:0001383 | 99.42 | gold quality |
| body of tongue | UBERON:0011876 | 99.40 | gold quality |
| apex of heart | UBERON:0002098 | 99.15 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.09 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.03 | gold quality |
| cardiac ventricle | UBERON:0002082 | 98.90 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.88 | gold quality |
| muscle tissue | UBERON:0002385 | 97.09 | gold quality |
| heart | UBERON:0000948 | 95.46 | gold quality |
| tongue | UBERON:0001723 | 94.94 | gold quality |
| vena cava | UBERON:0004087 | 94.19 | gold quality |
| left ovary | UBERON:0002119 | 92.57 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.03 | gold quality |
| right ovary | UBERON:0002118 | 89.37 | gold quality |
| ovary | UBERON:0000992 | 88.45 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 88.26 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.63 |
| E-MTAB-11268 | no | 4515.48 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting CMYA5, 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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-4671-3P | 99.88 | 72.46 | 1045 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-6513-3P | 99.59 | 69.77 | 1102 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
| HSA-MIR-4528 | 99.18 | 69.77 | 1936 |
| HSA-MIR-1178-3P | 98.57 | 67.09 | 890 |
| HSA-MIR-7156-3P | 98.25 | 67.66 | 859 |
| HSA-MIR-6748-3P | 97.20 | 65.66 | 836 |
| HSA-MIR-7161-3P | 96.79 | 68.79 | 798 |
| HSA-MIR-4280 | 96.44 | 67.69 | 473 |
Literature-anchored findings (GeneRIF, showing 15)
- Functions directly downstream of MEF2A at the costamere in striated muscle potentially playing a role in myofibrillogenesis. (PMID:16407236)
- perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin (PMID:17872945)
- Polymorphism of myospryn is associated with left ventricular hypertrophy, and an association between a Z-disc protein and cardiac adaptation in response to pressure overload. (PMID:18344630)
- Review discusses interactions that suggest myospryn is involved in two seemingly distinct processes, protein kinase A signalling and vesicular trafficking. (PMID:19140017)
- Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. (PMID:20634290)
- 2 SNPS in CYMA5, rs4704591 & rs10043986, are significantly associated with schizophrenia. Haplotype conditioned analyses indicated that the association signals observed at these two markers are independent. (PMID:20838396)
- This study demonstrated that the association between CMYA5 and schizophrenia in Han Chinese. (PMID:21295948)
- CMYA5 is a new potential substrate of Kcna3 in human heart (PMID:23335746)
- Association of cardiomyopathy-associated 5 (CMYA5) gene of Schizophrenia, is reported. (PMID:23528614)
- In a Han Chinese sample of schizophrenic patients, SNPs within CMYA5 were associated with the disorder. (PMID:23778016)
- meta-analysis confirming association of CMYA5 polymorphisms and schizophrenia in East Asian population. (PMID:24524722)
- Specific alleles and haplotype in the CMYA5 confer genetic risk for both schizophrenia and major depressive disorder in the Han Chinese population. (PMID:24988482)
- association between CMYA5 gene polymorphisms and schizophrenia was confirmed in Asian population. (PMID:26403435)
- The results showed that MYBPC3 25-bp deletion polymorphism was significantly associated with elevated risk of left ventricular dysfunction (LVD), while TTN 18 bp I/D, TNNT2 5 bp I/D and myospryn K2906N polymorphisms did not show any significant association with LVD. (PMID:27350668)
- meta-analysis did not provide evidence supporting a contribution of CMYA5 rs3828611 and rs4704591 to schizophrenia susceptibility in Asian populations. (PMID:28776924)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cmya5 | ENSDARG00000061379 |
| danio_rerio | si:ch1073-398f15.1 | ENSDARG00000100353 |
| mus_musculus | Cmya5 | ENSMUSG00000047419 |
| rattus_norvegicus | Cmya5 | ENSRNOG00000023803 |
Paralogs (3): FSD1 (ENSG00000105255), FSD1L (ENSG00000106701), FSD2 (ENSG00000186628)
Protein
Protein identifiers
Cardiomyopathy-associated protein 5 — Q8N3K9 (reviewed: Q8N3K9)
Alternative names: Dystrobrevin-binding protein 2, Genethonin-3, Myospryn, SPRY domain-containing protein 2, Tripartite motif-containing protein 76
All UniProt accessions (1): Q8N3K9
UniProt curated annotations — full annotation on UniProt →
Function. May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A. May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration. Plays a role in the assembly of ryanodine receptor (RYR2) clusters in striated muscle.
Subunit / interactions. Interacts with PRKAR2A. Interacts with ACTN2 and DTNBP1/dysbindin. Interacts with DES. Interacts with DMD/dystrophin. Interacts with the calcineurin catalytic subunit PPP3CA. Interacts with TTN. Interacts with CAPN3; this interaction, which results in CMYA5 proteolysis, may protect CAPN3 from autolysis. Interacts with FSD2. Identified in a complex composed of FSD2, CMYA5 and RYR2.
Subcellular location. Nucleus. Sarcoplasmic reticulum. Cytoplasm. Perinuclear region. Myofibril. Sarcomere. M line.
Tissue specificity. Expressed in skeletal muscle; at a strong level and in heart.
Post-translational modifications. Phosphorylated by PKA.
Domain organisation. Amphipathic helix regions act as an anchoring domain for PKA, and appear to be responsible of the interaction between myospryn and PRKAR2A.
Induction. Down-regulated in muscle cell lines derived from patients with Duchenne muscular dystrophy (DMD).
RefSeq proteins (1): NP_705838* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001870 | B30.2/SPRY | Domain |
| IPR003877 | SPRY_dom | Domain |
| IPR003961 | FN3_dom | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR043136 | B30.2/SPRY_sf | Homologous_superfamily |
| IPR050617 | E3_ligase_FN3/SPRY | Family |
Pfam: PF00622
UniProt features (139 total): compositionally biased region 38, region of interest 33, sequence conflict 29, sequence variant 28, modified residue 5, domain 3, coiled-coil region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for Q8N3K9 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
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 (5): 155, 631, 2404, 2813, 3228
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 86 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, RGAGGAARY_PU1_Q6, AP1FJ_Q2, GOCC_M_BAND, LEIN_CEREBELLUM_MARKERS, GOCC_SARCOPLASM, GOCC_A_BAND, WGTTNNNNNAAA_UNKNOWN, TCANNTGAY_SREBP1_01, RICKMAN_HEAD_AND_NECK_CANCER_F, DUTERTRE_ESTRADIOL_RESPONSE_24HR_DN, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_SUPRAMOLECULAR_POLYMER
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), sarcoplasmic reticulum (GO:0016529), M band (GO:0031430), perinuclear region of cytoplasm (GO:0048471)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| endoplasmic reticulum | 1 |
| sarcoplasm | 1 |
| A band | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1454 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CMYA5 | DTNBP1 | Q96EV8 | 840 |
| CMYA5 | PRKAR2A | P13861 | 835 |
| CMYA5 | TTN | Q8WZ42 | 780 |
| CMYA5 | PRKAR1B | P31321 | 757 |
| CMYA5 | CAPN3 | P20807 | 753 |
| CMYA5 | ACTN2 | P35609 | 669 |
| CMYA5 | DTNA | Q9Y4J8 | 665 |
| CMYA5 | MEF2A | Q02078 | 605 |
| CMYA5 | BBOX1 | O75936 | 602 |
| CMYA5 | MYOZ2 | Q9NPC6 | 595 |
| CMYA5 | SYNM | O15061 | 542 |
| CMYA5 | DMD | P11532 | 531 |
| CMYA5 | NKAIN4 | Q8IVV8 | 493 |
| CMYA5 | PRKACA | P17612 | 475 |
| CMYA5 | PRKACG | P22612 | 471 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CMYA5 | DYSF | psi-mi:“MI:0403”(colocalization) | 0.500 |
| DYSF | CMYA5 | psi-mi:“MI:2364”(proximity) | 0.500 |
| CMYA5 | H1-1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIRT1 | KPNA3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIRT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| HSPB2 | CMYA5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OCRL | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| POLRMT | psi-mi:“MI:0914”(association) | 0.350 | |
| PSMC4 | CMYA5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| BZW1 | CMYA5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PKNOX1 | CMYA5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CAPN3 | CMYA5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CLIP4 | CMYA5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CMYA5 | CMYA5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| IL6ST | CMYA5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CMYA5 | DYSF | psi-mi:“MI:0915”(physical association) | 0.000 |
| CMYA5 | MYBPC2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CMYA5 | OPTN | psi-mi:“MI:0915”(physical association) | 0.000 |
| SNAPIN | CMYA5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (38): CMYA5 (Two-hybrid), CMYA5 (Affinity Capture-MS), CMYA5 (Affinity Capture-MS), CMYA5 (Affinity Capture-MS), CMYA5 (Affinity Capture-MS), CMYA5 (Affinity Capture-MS), CMYA5 (Affinity Capture-RNA), CMYA5 (Synthetic Lethality), CMYA5 (Affinity Capture-MS), CMYA5 (Affinity Capture-MS), CMYA5 (Affinity Capture-MS), CMYA5 (Proximity Label-MS), CMYA5 (Two-hybrid), CMYA5 (Two-hybrid), CMYA5 (Two-hybrid)
ESM2 similar proteins: A0A0P0XCU3, A0A1P8BH59, A1YFC1, A1YGK6, A2T7F2, A6NJ88, B7SY83, F1QU13, F4HXQ7, F4ICX9, F4INW9, F4KCE9, O04251, O81472, O96001, P0CV01, P0CV36, P0CV42, P0CV43, P0CV45, P0CV46, P0CV55, P0CV57, P0CV58, P10322, P16531, P48786, Q0DVU4, Q10P83, Q2EI21, Q3URU2, Q5JY77, Q5QNA6, Q5R7U0, Q5SRN2, Q5U4C1, Q5XPK0, Q6K5K2, Q7T2B3, Q8N3K9
Diamond homologs: A0JN74, A1L4K1, A2ABU4, A2ASS6, B1H278, H0UZ81, O00478, P18892, P82456, Q02084, Q13410, Q1XHU0, Q495X7, Q5BN31, Q5D7I0, Q5R7W8, Q5R996, Q5VTT5, Q6MFZ5, Q6UX41, Q6UXE8, Q70KF4, Q7YRV4, Q8BVW3, Q8BZ52, Q8N3K9, Q8VI40, Q8WVV5, Q8WZ42, Q91431, Q96F44, Q96KV6, Q96PL5, Q99PQ2, Q9ESN2, Q9HCM9, Q9JLN5, O00481, O00635, O75679
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
717 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 552 |
| Likely benign | 84 |
| Benign | 28 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2125 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:79690040:G:GT | donor_gain | 1.0000 |
| 5:79690052:TCCAG:T | donor_loss | 1.0000 |
| 5:79690053:CCAGG:C | donor_loss | 1.0000 |
| 5:79690054:CAGG:C | donor_loss | 1.0000 |
| 5:79690055:AGGT:A | donor_loss | 1.0000 |
| 5:79690056:GGT:G | donor_loss | 1.0000 |
| 5:79690058:T:G | donor_loss | 1.0000 |
| 5:79743824:CA:C | acceptor_loss | 1.0000 |
| 5:79743825:A:AG | acceptor_gain | 1.0000 |
| 5:79743826:G:GG | acceptor_gain | 1.0000 |
| 5:79743921:AGG:A | donor_loss | 1.0000 |
| 5:79743922:GGTA:G | donor_loss | 1.0000 |
| 5:79743923:G:GA | donor_loss | 1.0000 |
| 5:79743924:T:A | donor_loss | 1.0000 |
| 5:79745220:A:AG | acceptor_gain | 1.0000 |
| 5:79745220:AG:A | acceptor_gain | 1.0000 |
| 5:79745221:G:GA | acceptor_gain | 1.0000 |
| 5:79745221:GG:G | acceptor_gain | 1.0000 |
| 5:79745221:GGA:G | acceptor_gain | 1.0000 |
| 5:79745221:GGAA:G | acceptor_gain | 1.0000 |
| 5:79745221:GGAAA:G | acceptor_gain | 1.0000 |
| 5:79745451:TGACT:T | donor_gain | 1.0000 |
| 5:79745452:GACT:G | donor_gain | 1.0000 |
| 5:79745452:GACTG:G | donor_gain | 1.0000 |
| 5:79745453:ACT:A | donor_gain | 1.0000 |
| 5:79745453:ACTGT:A | donor_loss | 1.0000 |
| 5:79745454:CT:C | donor_gain | 1.0000 |
| 5:79745454:CTG:C | donor_loss | 1.0000 |
| 5:79745455:TGT:T | donor_loss | 1.0000 |
| 5:79745456:G:GG | donor_gain | 1.0000 |
AlphaMissense
26516 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:79763127:T:A | W3825R | 0.999 |
| 5:79763127:T:C | W3825R | 0.999 |
| 5:79758821:T:A | W3727R | 0.998 |
| 5:79758821:T:C | W3727R | 0.998 |
| 5:79793486:T:A | W3947R | 0.998 |
| 5:79793486:T:C | W3947R | 0.998 |
| 5:79758816:T:A | V3725D | 0.997 |
| 5:79761924:A:C | S3792R | 0.997 |
| 5:79761926:C:A | S3792R | 0.997 |
| 5:79761926:C:G | S3792R | 0.997 |
| 5:79761933:A:C | S3795R | 0.997 |
| 5:79761935:T:A | S3795R | 0.997 |
| 5:79761935:T:G | S3795R | 0.997 |
| 5:79789077:A:C | S3888R | 0.997 |
| 5:79789079:T:A | S3888R | 0.997 |
| 5:79789079:T:G | S3888R | 0.997 |
| 5:79758861:T:A | V3740D | 0.996 |
| 5:79793488:G:C | W3947C | 0.996 |
| 5:79793488:G:T | W3947C | 0.996 |
| 5:79729495:T:C | F244L | 0.995 |
| 5:79729496:T:C | F244S | 0.995 |
| 5:79729497:T:A | F244L | 0.995 |
| 5:79729497:T:G | F244L | 0.995 |
| 5:79763116:C:A | A3821D | 0.995 |
| 5:79789068:A:C | S3885R | 0.995 |
| 5:79789070:T:A | S3885R | 0.995 |
| 5:79789070:T:G | S3885R | 0.995 |
| 5:79790979:T:C | F3900S | 0.995 |
| 5:79799471:T:C | F4022S | 0.995 |
| 5:79729451:T:G | I229S | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000011623 (5:79720369 G>T), RS1000071855 (5:79722036 A>G,T), RS1000080998 (5:79771369 G>C), RS1000111830 (5:79726960 G>C,T), RS1000150111 (5:79767319 C>G), RS1000154695 (5:79743148 C>G,T), RS1000179991 (5:79703002 C>G), RS1000182912 (5:79772627 C>T), RS1000192286 (5:79746655 T>C), RS1000195385 (5:79698186 T>A,C), RS1000195618 (5:79797041 A>G), RS1000242730 (5:79749796 G>A), RS1000284559 (5:79771099 T>G), RS1000333028 (5:79755882 A>G), RS1000334192 (5:79711002 A>G,T)
Disease associations
OMIM: gene MIM:612193 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001732_1 | Obesity | 1.000000e-06 |
| GCST002671_8 | Toenail selenium levels | 6.000000e-06 |
| GCST006364_2 | Hepatitis B surface antigen seroclearance in chronic hepatitis B infection | 4.000000e-06 |
| GCST009378_14 | Bone mineral content | 5.000000e-06 |
| GCST009378_22 | Bone mineral content | 8.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009345 | Hepatitis B virus surface antigen seropositivity |
| EFO:0007621 | bone mineral content measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| sodium arsenite | affects expression | 1 |
| Amiodarone | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cuprizone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Haloperidol | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| S-Nitrosoglutathione | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): obesity disorder