ASB9
gene geneOn this page
Also known as DKFZP564L0862MGC4954FLJ20636
Summary
ASB9 (ankyrin repeat and SOCS box containing 9, HGNC:17184) is a protein-coding gene on chromosome Xp22.2, encoding Ankyrin repeat and SOCS box protein 9 (Q96DX5). Substrate-recognition component of a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex, also named CRL5 complex), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 140462 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 98 total — 1 pathogenic
- MANE Select transcript:
NM_001031739
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17184 |
| Approved symbol | ASB9 |
| Name | ankyrin repeat and SOCS box containing 9 |
| Location | Xp22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP564L0862, MGC4954, FLJ20636 |
| Ensembl gene | ENSG00000102048 |
| Ensembl biotype | protein_coding |
| OMIM | 300890 |
| Entrez | 140462 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 11 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000380483, ENST00000380485, ENST00000380488, ENST00000470015, ENST00000473862, ENST00000477346, ENST00000481384, ENST00000484017, ENST00000546332, ENST00000904610, ENST00000904611, ENST00000904612, ENST00000904613, ENST00000904614, ENST00000904615
RefSeq mRNA: 4 — MANE Select: NM_001031739
NM_001031739, NM_001168530, NM_001168531, NM_024087
CCDS: CCDS14163, CCDS35208, CCDS55372
Canonical transcript exons
ENST00000380488 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001485138 | 15269781 | 15270083 |
| ENSE00003475135 | 15252254 | 15252404 |
| ENSE00003480596 | 15250430 | 15250564 |
| ENSE00003483994 | 15254737 | 15254844 |
| ENSE00003633957 | 15258866 | 15258945 |
| ENSE00003639299 | 15243987 | 15244630 |
| ENSE00003656261 | 15248744 | 15248935 |
Expression profiles
Bgee: expression breadth ubiquitous, 183 present calls, max score 89.73.
FANTOM5 (CAGE): breadth broad, TPM avg 0.4369 / max 19.6022, expressed in 226 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 198517 | 0.3991 | 216 |
| 198516 | 0.0378 | 17 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.73 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.58 | gold quality |
| right testis | UBERON:0004534 | 89.55 | gold quality |
| left testis | UBERON:0004533 | 88.31 | gold quality |
| nephron tubule | UBERON:0001231 | 88.26 | gold quality |
| testis | UBERON:0000473 | 87.93 | gold quality |
| adult organism | UBERON:0007023 | 84.47 | gold quality |
| kidney epithelium | UBERON:0004819 | 82.28 | gold quality |
| renal glomerulus | UBERON:0000074 | 80.93 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 80.17 | gold quality |
| right lobe of liver | UBERON:0001114 | 80.00 | gold quality |
| spleen | UBERON:0002106 | 79.33 | gold quality |
| pancreas | UBERON:0001264 | 78.91 | gold quality |
| cortex of kidney | UBERON:0001225 | 78.58 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 77.57 | gold quality |
| kidney | UBERON:0002113 | 76.80 | gold quality |
| liver | UBERON:0002107 | 76.79 | gold quality |
| metanephros | UBERON:0000081 | 76.07 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 75.84 | gold quality |
| body of pancreas | UBERON:0001150 | 75.44 | gold quality |
| bronchial epithelial cell | CL:0002328 | 72.24 | gold quality |
| metanephros cortex | UBERON:0010533 | 70.65 | gold quality |
| rectum | UBERON:0001052 | 70.44 | gold quality |
| minor salivary gland | UBERON:0001830 | 70.31 | gold quality |
| body of stomach | UBERON:0001161 | 69.79 | gold quality |
| gall bladder | UBERON:0002110 | 69.14 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 68.89 | gold quality |
| visceral pleura | UBERON:0002401 | 68.84 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 68.69 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 68.59 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-81547 | yes | 16.67 |
| E-MTAB-6678 | no | 2.41 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting ASB9, 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-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-569 | 99.42 | 66.32 | 1009 |
| HSA-MIR-4721 | 99.26 | 66.05 | 818 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-4763-5P | 98.75 | 63.89 | 854 |
| HSA-MIR-518C-5P | 98.53 | 69.20 | 1640 |
| HSA-MIR-224-5P | 98.33 | 70.12 | 1256 |
| HSA-MIR-5585-3P | 98.25 | 67.41 | 941 |
| HSA-MIR-649 | 97.96 | 67.21 | 704 |
| HSA-MIR-3129-3P | 97.85 | 67.63 | 1246 |
| HSA-MIR-5583-5P | 97.85 | 67.61 | 1243 |
| HSA-MIR-3616-3P | 96.96 | 65.45 | 983 |
| HSA-MIR-514A-5P | 96.94 | 65.49 | 801 |
| HSA-MIR-664B-5P | 96.74 | 67.50 | 509 |
Literature-anchored findings (GeneRIF, showing 10)
- The splice variant of hASB9, hASB9-2 protein, was cloned, overexpressed, and crystallized and the data showed that the cubic hASB9-2 crystal belongs to space group P4(3)32 with unit-cell parameters. (PMID:18680464)
- The purified ASB9-2 protein, the splice variant of ASB9 with only one ankyrin repeat domain, was crystallized and diffracted to 2.2A resolution. (PMID:19275750)
- ASB9 interacts with the creatine kinase system and negatively regulates cell growth. (PMID:20302626)
- The results of the present study suggest that ASB9 is a useful prognostic marker for colorectal cancer (PMID:20878058)
- His103 and Phe107 in hASB9-2 are essential for binding to CKB. (PMID:22418839)
- ASB9 is unstable alone but forms a stable ternary complex with EloBC that binds with high affinity to the Cullin 5 N-terminal domain. (PMID:23837592)
- Molecular docking yielded a structural model consistent with all of the data that suggested the N-terminal residues of ASB9(1-252) may lie in one CK active site. This model was corroborated by enzymatic activity assays and mutational analysis. (PMID:25654263)
- Model of ASB9 in complex with its substrate, creatine kinase, reveals a mechanism for dynamic ubiquitin transfer. (PMID:27396830)
- Structure and dynamics of the ASB9 CUL-RING E3 Ligase. (PMID:32513959)
- Ubiquitin protein E3 ligase ASB9 suppresses proliferation and promotes apoptosis in human spermatogonial stem cell line by inducing HIF1AN degradation. (PMID:36683111)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Asb9 | ENSMUSG00000031384 |
| rattus_norvegicus | Asb9 | ENSRNOG00000067365 |
Paralogs (2): ASB5 (ENSG00000164122), ASB11 (ENSG00000165192)
Protein
Protein identifiers
Ankyrin repeat and SOCS box protein 9 — Q96DX5 (reviewed: Q96DX5)
All UniProt accessions (3): Q96DX5, A0A024RBW7, R4GN94
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-recognition component of a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex, also named CRL5 complex), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. The ECS(ASB9) complex catalyzes ubiquitination of creatine kinases CKB and CKMT1A. Does not interact with the Elongin BC complex, likely to be a negative regulator of isoform 1.
Subunit / interactions. Substrate-recognition component of the ECS(ASB9) complex, composed of ASB9, CUL5, ELOB, ELOC and RNF7/RBX2.
Subcellular location. Mitochondrion.
Tissue specificity. Predominantly expressed in testis, kidney, and liver.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the ankyrin SOCS box (ASB) family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96DX5-1 | 1 | yes |
| Q96DX5-2 | 2, ASB9deltaSOCS | |
| Q96DX5-3 | 3 |
RefSeq proteins (4): NP_001026909, NP_001162002, NP_001162003, NP_076992 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001496 | SOCS_box | Domain |
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR036036 | SOCS_box-like_dom_sf | Homologous_superfamily |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
| IPR037333 | ASB9/11_SOCS | Domain |
| IPR051573 | Ankyrin-SOCS_box_domain | Family |
Pfam: PF07525, PF12796
UniProt features (38 total): helix 17, repeat 6, strand 3, modified residue 2, splice variant 2, sequence conflict 2, site 2, chain 1, mutagenesis site 1, turn 1, domain 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3D9H | X-RAY DIFFRACTION | 2.2 |
| 3ZKJ | X-RAY DIFFRACTION | 2.58 |
| 3ZNG | X-RAY DIFFRACTION | 2.85 |
| 6V9H | ELECTRON MICROSCOPY | 4.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96DX5-F1 | 91.89 | 0.83 |
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 (2): 103 (essential for binding to ckb); 107 (essential for binding to ckb)
Post-translational modifications (2): 1, 51
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 32 | decreased ability to mediate ubiquitination of ckb. |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 106 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOZGIT_ESR1_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, ONKEN_UVEAL_MELANOMA_UP, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, BLALOCK_ALZHEIMERS_DISEASE_UP, TGCTGAY_UNKNOWN, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS
GO Biological Process (4): protein ubiquitination (GO:0016567), intracellular signal transduction (GO:0035556), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), positive regulation of protein catabolic process (GO:0045732)
GO Molecular Function (2): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)
GO Cellular Component (3): mitochondrion (GO:0005739), cytosol (GO:0005829), Cul5-RING ubiquitin ligase complex (GO:0031466)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Metabolism of proteins | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| protein modification by small protein conjugation | 1 |
| intracellular anatomical structure | 1 |
| signal transduction | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| positive regulation of catabolic process | 1 |
| protein catabolic process | 1 |
| regulation of protein catabolic process | 1 |
| positive regulation of protein metabolic process | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
1460 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ASB9 | ELOC | Q15369 | 825 |
| ASB9 | CKB | P12277 | 725 |
| ASB9 | ELOB | Q15370 | 718 |
| ASB9 | CUL5 | Q93034 | 717 |
| ASB9 | CKMT1B | P12532 | 678 |
| ASB9 | SOCS4 | Q8WXH5 | 604 |
| ASB9 | SOCS6 | O14544 | 593 |
| ASB9 | MOSPD2 | Q8NHP6 | 504 |
| ASB9 | TMEM272 | A0A1B0GTI8 | 482 |
| ASB9 | RNF7 | Q9UBF6 | 470 |
| ASB9 | ASB17 | Q8WXJ9 | 470 |
| ASB9 | ASB6 | Q9NWX5 | 469 |
| ASB9 | CRIP1 | P50238 | 448 |
| ASB9 | RELT | Q969Z4 | 447 |
| ASB9 | CISH | Q9NSE2 | 445 |
IntAct
89 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CKB | ASB9 | psi-mi:“MI:0915”(physical association) | 0.940 |
| ASB9 | CKB | psi-mi:“MI:0915”(physical association) | 0.940 |
| CKM | ASB9 | psi-mi:“MI:0915”(physical association) | 0.870 |
| ASB9 | CKM | psi-mi:“MI:0915”(physical association) | 0.870 |
| ASB9 | HIF1AN | psi-mi:“MI:0915”(physical association) | 0.870 |
| ASB9 | CKM | psi-mi:“MI:0914”(association) | 0.870 |
| HIF1AN | ASB9 | psi-mi:“MI:0915”(physical association) | 0.870 |
| CDK2 | CCNB2 | psi-mi:“MI:0914”(association) | 0.860 |
| CKMT1A | ASB9 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ELOC | ASB9 | psi-mi:“MI:0915”(physical association) | 0.740 |
| HEL-S-29 | ASB9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EXOSC1 | ASB9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASB13 | ASB9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RELA | ASB9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ACTN3 | ASB9 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (119): ASB9 (Two-hybrid), ASB9 (Two-hybrid), UBB (Affinity Capture-MS), TCEB1 (Affinity Capture-MS), CUL5 (Affinity Capture-MS), CKM (Affinity Capture-MS), CKB (Affinity Capture-MS), CKMT1A (Affinity Capture-MS), HIF1AN (Affinity Capture-MS), ARIH2 (Affinity Capture-MS), ASB9 (Two-hybrid), ASB9 (Two-hybrid), ASB9 (Two-hybrid), ASB9 (Two-hybrid), CRK (Affinity Capture-Luminescence)
ESM2 similar proteins: A2AS55, B2RXR6, O15084, O75832, P0C927, Q08DV6, Q0P5B9, Q29RM5, Q2TB02, Q3SX45, Q495B1, Q499M5, Q4V890, Q502K3, Q505D1, Q53RE8, Q5F478, Q5RFS1, Q5U2S6, Q5ZLC8, Q6GPE5, Q6P6B7, Q6P9Z4, Q70X92, Q7T3P8, Q810B6, Q8BTI7, Q8C0T1, Q8C6Y6, Q8K0L0, Q8N8A2, Q8NB46, Q8NI38, Q8WXH4, Q91ZT8, Q96AX9, Q96DX5, Q96NS5, Q96Q27, Q9BSK4
Diamond homologs: A0A072VIM5, A0A0K0PU92, A2CIR7, B9DHT4, C9JJ37, E7BQV0, G3LSH3, G8GTN7, Q05823, Q0JJ01, Q2HW56, Q2QXZ2, Q2RAQ5, Q5D0W8, Q5ICL9, Q5XIU1, Q75HA6, Q8L746, Q96BM1, Q96DX5, Q99LJ2, Q9FDY4, Q9M1I7, Q9SZI3, Q9ZVC2, S4VGD0, A6QPA3, B7U179, Q5R4S6, Q8R179, Q9N010, Q9NVX7, Q6NYM1, Q9LXV4, Q02989, Q17QS6, Q3SZE4, Q5RFS1, Q70X92, Q810B6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ASB9 | “down-regulates quantity by destabilization” | CKB | polyubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
98 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3245767 | NC_000023.10:g.(?14027032)(19854400_?)del | Pathogenic |
SpliceAI
871 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:15248725:G:C | donor_gain | 1.0000 |
| X:15248936:C:CC | acceptor_gain | 1.0000 |
| X:15250573:C:CT | acceptor_gain | 1.0000 |
| X:15250573:C:T | acceptor_gain | 1.0000 |
| X:15250574:A:T | acceptor_gain | 1.0000 |
| X:15248746:T:A | donor_gain | 0.9900 |
| X:15248752:T:A | donor_gain | 0.9900 |
| X:15248808:G:A | donor_gain | 0.9900 |
| X:15248931:CGCTC:C | acceptor_gain | 0.9900 |
| X:15248933:CTC:C | acceptor_gain | 0.9900 |
| X:15248942:A:T | acceptor_gain | 0.9900 |
| X:15248945:C:CT | acceptor_gain | 0.9900 |
| X:15248947:C:CT | acceptor_gain | 0.9900 |
| X:15250424:CTTTA:C | donor_loss | 0.9900 |
| X:15250427:TACCT:T | donor_loss | 0.9900 |
| X:15250428:A:G | donor_loss | 0.9900 |
| X:15250429:CC:C | donor_loss | 0.9900 |
| X:15250565:C:CC | acceptor_gain | 0.9900 |
| X:15250566:T:A | acceptor_loss | 0.9900 |
| X:15250578:C:CT | acceptor_gain | 0.9900 |
| X:15250579:A:T | acceptor_gain | 0.9900 |
| X:15252421:C:CT | acceptor_gain | 0.9900 |
| X:15254840:CACCC:C | acceptor_gain | 0.9900 |
| X:15254842:CCC:C | acceptor_gain | 0.9900 |
| X:15254843:CCC:C | acceptor_gain | 0.9900 |
| X:15269779:ACCG:A | donor_gain | 0.9900 |
| X:15269779:ACCGC:A | donor_gain | 0.9900 |
| X:15269780:CCG:C | donor_gain | 0.9900 |
| X:15269780:CCGC:C | donor_gain | 0.9900 |
| X:15269780:CCGCC:C | donor_gain | 0.9900 |
AlphaMissense
1939 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:15254788:A:C | C77W | 0.989 |
| X:15254790:A:G | C77R | 0.987 |
| X:15252362:C:G | A109P | 0.986 |
| X:15252357:A:C | C110W | 0.985 |
| X:15252359:A:G | C110R | 0.985 |
| X:15254793:C:G | A76P | 0.985 |
| X:15252266:C:G | A141P | 0.983 |
| X:15254789:C:T | C77Y | 0.982 |
| X:15250441:A:G | L186P | 0.980 |
| X:15254756:A:G | L88S | 0.980 |
| X:15252358:C:T | C110Y | 0.979 |
| X:15250475:A:G | C175R | 0.974 |
| X:15258910:C:G | A44P | 0.973 |
| X:15252263:C:G | A142P | 0.972 |
| X:15252262:G:T | A142D | 0.971 |
| X:15252366:A:C | F107L | 0.969 |
| X:15252366:A:T | F107L | 0.969 |
| X:15252368:A:G | F107L | 0.969 |
| X:15258909:G:T | A44E | 0.968 |
| X:15252265:G:T | A141D | 0.965 |
| X:15250473:A:C | C175W | 0.963 |
| X:15258913:C:G | A43P | 0.963 |
| X:15250478:C:G | A174P | 0.962 |
| X:15252325:A:G | L121P | 0.962 |
| X:15250477:G:T | A174D | 0.960 |
| X:15254801:A:T | L73H | 0.960 |
| X:15252361:G:T | A109D | 0.959 |
| X:15250474:C:T | C175Y | 0.956 |
| X:15254804:G:C | P72R | 0.955 |
| X:15258876:A:G | L55P | 0.955 |
dbSNP variants (sampled 300 via entrez): RS1000058425 (X:15257329 C>G,T), RS1000244666 (X:15251905 G>A), RS1000358829 (X:15243691 G>A), RS1000832014 (X:15259445 A>G), RS1000871687 (X:15249527 C>T), RS1001049363 (X:15258954 A>G,T), RS1001060037 (X:15255465 G>A), RS1001072202 (X:15243500 A>G), RS1001387906 (X:15249930 G>A), RS1001462128 (X:15256404 A>C), RS1001479474 (X:15267344 G>A,C), RS1001670979 (X:15270094 A>ACC), RS1001852889 (X:15261176 A>C), RS1002050138 (X:15261082 C>T), RS1002084184 (X:15269378 T>C)
Disease associations
OMIM: gene MIM:300890 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_740 | Metabolite levels | 6.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| Benzo(a)pyrene | decreases expression, decreases methylation, affects methylation | 6 |
| Aflatoxin B1 | decreases methylation, affects expression, decreases expression | 5 |
| Cyclosporine | decreases expression | 3 |
| sodium arsenite | decreases expression | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| apocarotenal | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 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 | increases expression, affects cotreatment | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| MRK 003 | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Panobinostat | increases expression, affects cotreatment | 1 |
| Arsenic | 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.