ASB1
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Also known as ASB-1
Summary
ASB1 (ankyrin repeat and SOCS box containing 1, HGNC:16011) is a protein-coding gene on chromosome 2q37.3, encoding Ankyrin repeat and SOCS box protein 1 (Q9Y576). Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation.
Source: NCBI Gene 51665 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 63 total — 5 pathogenic
- MANE Select transcript:
NM_001040445
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16011 |
| Approved symbol | ASB1 |
| Name | ankyrin repeat and SOCS box containing 1 |
| Location | 2q37.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ASB-1 |
| Ensembl gene | ENSG00000065802 |
| Ensembl biotype | protein_coding |
| OMIM | 605758 |
| Entrez | 51665 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 protein_coding_CDS_not_defined, 3 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000264607, ENST00000409297, ENST00000438264, ENST00000463352, ENST00000468122, ENST00000469885, ENST00000473306, ENST00000481566, ENST00000491653, ENST00000867386
RefSeq mRNA: 2 — MANE Select: NM_001040445
NM_001040445, NM_001330196
CCDS: CCDS33416, CCDS82582
Canonical transcript exons
ENST00000264607 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001074110 | 238433554 | 238433695 |
| ENSE00001246892 | 238446384 | 238452250 |
| ENSE00001883621 | 238426927 | 238427119 |
| ENSE00003468990 | 238435711 | 238436013 |
| ENSE00003688411 | 238444342 | 238444727 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 93.72.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.2342 / max 82.6070, expressed in 1808 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 26349 | 8.3307 | 1676 |
| 26348 | 2.2824 | 1367 |
| 26345 | 1.8460 | 779 |
| 26344 | 1.7071 | 946 |
| 26347 | 0.8264 | 546 |
| 26346 | 0.1833 | 85 |
| 26350 | 0.0531 | 22 |
| 26351 | 0.0053 | 2 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 93.72 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.62 | gold quality |
| nucleus accumbens | UBERON:0001882 | 92.54 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.24 | gold quality |
| putamen | UBERON:0001874 | 92.18 | gold quality |
| amygdala | UBERON:0001876 | 91.66 | gold quality |
| cardiac atrium | UBERON:0002081 | 91.51 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.23 | gold quality |
| spinal cord | UBERON:0002240 | 91.15 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.88 | gold quality |
| hypothalamus | UBERON:0001898 | 90.79 | gold quality |
| substantia nigra | UBERON:0002038 | 90.73 | gold quality |
| caudate nucleus | UBERON:0001873 | 90.71 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.17 | gold quality |
| midbrain | UBERON:0001891 | 89.99 | gold quality |
| cingulate cortex | UBERON:0003027 | 89.94 | gold quality |
| medial globus pallidus | UBERON:0002477 | 89.83 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.83 | gold quality |
| right frontal lobe | UBERON:0002810 | 89.73 | gold quality |
| heart | UBERON:0000948 | 89.57 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.29 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 89.27 | gold quality |
| globus pallidus | UBERON:0001875 | 89.10 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.98 | gold quality |
| Ammon’s horn | UBERON:0001954 | 88.94 | gold quality |
| granulocyte | CL:0000094 | 88.92 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.84 | gold quality |
| left testis | UBERON:0004533 | 88.79 | gold quality |
| muscle of leg | UBERON:0001383 | 88.77 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.67 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
148 targeting ASB1, 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-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
Literature-anchored findings (GeneRIF, showing 1)
- Epigenetic regulation of the stress-responsive Asb1 gene in anxiety-related phenotypes. (PMID:28540928)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | asb1 | ENSDARG00000026635 |
| mus_musculus | Asb1 | ENSMUSG00000026311 |
| rattus_norvegicus | Asb1 | ENSRNOG00000020322 |
| caenorhabditis_elegans | WBGENE00014077 |
Paralogs (1): ANKRD16 (ENSG00000134461)
Protein
Protein identifiers
Ankyrin repeat and SOCS box protein 1 — Q9Y576 (reviewed: Q9Y576)
All UniProt accessions (3): Q9Y576, B9A047, F8WBM8
UniProt curated annotations — full annotation on UniProt →
Function. Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Mediates Notch-induced ubiquitination and degradation of TCF3/E2A and JAK2. Functions as a tumor suppressor by enhancing CHCHD3 ‘Lys-48’-linked ubiquitination, leading to inhibition of the CHCHD3/ROS signaling pathway. Suppresses TAB2-linked ‘Lys-48’ polyubiquitination and consequently facilitates the initiation of NF-kappa-B and MAPK signaling cascades. May play a role in testis development.
Subunit / interactions. Interacts with CUL5 and RNF7. Interacts with TAB2 and TAB3.
Subcellular location. Cytoplasm.
Domain organisation. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the ankyrin SOCS box (ASB) family.
RefSeq proteins (2): NP_001035535, NP_001317125 (=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 |
| IPR037331 | ASB1_SOCS | Domain |
Pfam: PF07525, PF12796, PF13606
UniProt features (8 total): repeat 6, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y576-F1 | 80.61 | 0.53 |
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: 133 (showing top):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MALE_GENITALIA_DEVELOPMENT, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, HUI_MAPK14_TARGETS_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_CYTOKINE_PRODUCTION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_SEX_DIFFERENTIATION
GO Biological Process (5): negative regulation of cytokine production (GO:0001818), protein ubiquitination (GO:0016567), male genitalia development (GO:0030539), intracellular signal transduction (GO:0035556), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (3): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515), ubiquitin protein ligase activity (GO:0061630)
GO Cellular Component (3): ubiquitin ligase complex (GO:0000151), cytosol (GO:0005829), cytoplasm (GO:0005737)
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 |
|---|---|
| intracellular anatomical structure | 2 |
| cellular anatomical structure | 2 |
| cytokine production | 1 |
| regulation of cytokine production | 1 |
| negative regulation of gene expression | 1 |
| negative regulation of multicellular organismal process | 1 |
| protein modification by small protein conjugation | 1 |
| male sex differentiation | 1 |
| genitalia development | 1 |
| reproductive system development | 1 |
| signal transduction | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| intracellular protein-containing complex | 1 |
| transferase complex | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1418 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ASB1 | IFT54 | Q8TDR0 | 758 |
| ASB1 | CISH | Q9NSE2 | 756 |
| ASB1 | CUL5 | Q93034 | 678 |
| ASB1 | RNF7 | Q9UBF6 | 629 |
| ASB1 | ELOB | Q15370 | 561 |
| ASB1 | ASB6 | Q9NWX5 | 537 |
| ASB1 | ASB17 | Q8WXJ9 | 492 |
| ASB1 | KCTD7 | Q96MP8 | 475 |
| ASB1 | TBL2 | Q9Y4P3 | 439 |
| ASB1 | JAK3 | P52333 | 426 |
| ASB1 | WSB1 | Q9Y6I7 | 400 |
| ASB1 | EXOC6 | Q8TAG9 | 396 |
| ASB1 | CDH6 | P55285 | 380 |
| ASB1 | STOX1 | Q6ZVD7 | 379 |
| ASB1 | ELOC | Q15369 | 373 |
IntAct
37 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL5 | SOCS2 | psi-mi:“MI:0914”(association) | 0.880 |
| CUL5 | ASB1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| RNF7 | ASB1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CUL5 | SOCS6 | psi-mi:“MI:0914”(association) | 0.640 |
| CUL5 | SOCS7 | psi-mi:“MI:0914”(association) | 0.640 |
| ASB1 | YWHAG | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASB1 | SETDB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KAT5 | ASB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO3 | ASB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CASQ2 | PES1 | psi-mi:“MI:0914”(association) | 0.530 |
| GPS1 | PXDNL | psi-mi:“MI:0914”(association) | 0.530 |
| KCTD17 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| PNMA2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| RNF7 | SOCS7 | psi-mi:“MI:0914”(association) | 0.530 |
| Eloc | ASB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CUL5 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| TSHB | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| CASQ2 | TSNARE1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (55): ASB1 (Affinity Capture-MS), ASB1 (Affinity Capture-MS), ASB1 (Affinity Capture-MS), ASB1 (Affinity Capture-MS), ASB1 (Affinity Capture-RNA), ASB1 (Affinity Capture-MS), ASB1 (Affinity Capture-MS), ASB1 (Affinity Capture-MS), ASB1 (Affinity Capture-MS), ASB1 (Affinity Capture-MS), ASB1 (Affinity Capture-MS), ASB1 (Affinity Capture-MS), ASB1 (Affinity Capture-MS), ASB1 (Proximity Label-MS), ASB1 (Affinity Capture-MS)
ESM2 similar proteins: A6NK59, A7MB89, B4E2M5, P0C6P7, P0C927, Q08DV6, Q29RM5, Q3SX45, Q3SZE4, Q3UMR0, Q495B1, Q4V890, Q5R5S1, Q5REW9, Q5RFS1, Q5U2S6, Q5ZM55, Q6GPE5, Q7T3P8, Q810B6, Q8C0T1, Q8C6Y6, Q8CEF1, Q8CEL2, Q8HXA6, Q8K0L0, Q8N9B4, Q8VHS6, Q8WXH4, Q8WXK1, Q91ZT8, Q96DX5, Q96JP0, Q96NW4, Q96Q27, Q9BSK4, Q9CQ31, Q9GKW8, Q9H0C1, Q9P2R3
Diamond homologs: Q02989, Q17QS6, Q3SZE4, Q5RFS1, Q70X92, Q810B6, Q862Z2, Q8VBX0, Q8WWX0, Q8WXH4, Q8WXK3, Q91ZT8, Q91ZU0, Q96DX5, Q9BSK4, Q9CQ31, Q9D1A4, Q9J4Z6, Q9WV74, Q9XZC0, Q9Y576, A2RT91, A6NK59, P0C927, Q08DV6, Q3SX45, Q3V096, Q58CT0, Q5U2S6, Q7Z5J8, Q8C6Y6, Q8HXA6, Q8K0L0, Q8N9B4, Q8VHS6, Q8WXK1, Q96Q27, Q9WV72, Q9Y575, Q9J519
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 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 |
|---|---|---|---|
| Neddylation | 7 | 15.8× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | 6 | 11.2× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 148337 | GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1 | Pathogenic |
| 3148871 | GRCh37/hg19 2q37.3(chr2:237577774-239670026)x3 | Pathogenic |
| 59178 | GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3 | Pathogenic |
| 816585 | GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 | Pathogenic |
| 981208 | GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 | Pathogenic |
SpliceAI
1183 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:238426993:G:GT | donor_gain | 1.0000 |
| 2:238433548:G:GA | acceptor_gain | 1.0000 |
| 2:238433694:AGGTG:A | donor_loss | 1.0000 |
| 2:238433695:GGTGA:G | donor_loss | 1.0000 |
| 2:238433697:T:G | donor_loss | 1.0000 |
| 2:238435710:G:GA | acceptor_gain | 1.0000 |
| 2:238435710:GCC:G | acceptor_gain | 1.0000 |
| 2:238436018:G:GG | donor_gain | 1.0000 |
| 2:238444336:CTGCA:C | acceptor_loss | 1.0000 |
| 2:238444337:TGCAG:T | acceptor_loss | 1.0000 |
| 2:238444338:GCAGG:G | acceptor_loss | 1.0000 |
| 2:238444339:CAGG:C | acceptor_loss | 1.0000 |
| 2:238444340:A:AG | acceptor_gain | 1.0000 |
| 2:238444340:AG:A | acceptor_gain | 1.0000 |
| 2:238444340:AGG:A | acceptor_loss | 1.0000 |
| 2:238444341:G:GA | acceptor_gain | 1.0000 |
| 2:238444341:GG:G | acceptor_gain | 1.0000 |
| 2:238444341:GGT:G | acceptor_gain | 1.0000 |
| 2:238444341:GGTA:G | acceptor_gain | 1.0000 |
| 2:238444341:GGTAC:G | acceptor_gain | 1.0000 |
| 2:238444728:G:GG | donor_gain | 1.0000 |
| 2:238426928:G:GG | donor_gain | 0.9900 |
| 2:238426951:G:GT | donor_gain | 0.9900 |
| 2:238427007:T:TA | donor_gain | 0.9900 |
| 2:238430432:GGCT:G | donor_gain | 0.9900 |
| 2:238430433:GCTG:G | donor_gain | 0.9900 |
| 2:238433547:A:AG | acceptor_gain | 0.9900 |
| 2:238433683:A:T | donor_gain | 0.9900 |
| 2:238433692:GGAG:G | donor_gain | 0.9900 |
| 2:238433693:G:GT | donor_gain | 0.9900 |
AlphaMissense
2162 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:238435842:A:T | D108V | 0.999 |
| 2:238444442:A:C | S199R | 0.999 |
| 2:238444444:C:A | S199R | 0.999 |
| 2:238444444:C:G | S199R | 0.999 |
| 2:238433638:C:A | A45D | 0.998 |
| 2:238433646:G:T | G48W | 0.998 |
| 2:238435761:C:A | P81Q | 0.998 |
| 2:238435764:T:G | L82W | 0.998 |
| 2:238435767:G:C | R83P | 0.998 |
| 2:238435776:C:A | A86D | 0.998 |
| 2:238435809:T:C | L97P | 0.998 |
| 2:238435841:G:C | D108H | 0.998 |
| 2:238435841:G:T | D108Y | 0.998 |
| 2:238435842:A:C | D108A | 0.998 |
| 2:238435848:A:T | K110I | 0.998 |
| 2:238435908:T:C | L130P | 0.998 |
| 2:238433647:G:T | G48V | 0.997 |
| 2:238435761:C:G | P81R | 0.997 |
| 2:238435764:T:C | L82S | 0.997 |
| 2:238435773:C:A | A85E | 0.997 |
| 2:238435775:G:C | A86P | 0.997 |
| 2:238435809:T:A | L97H | 0.997 |
| 2:238435843:C:A | D108E | 0.997 |
| 2:238435843:C:G | D108E | 0.997 |
| 2:238435860:C:A | A114D | 0.997 |
| 2:238435908:T:A | L130H | 0.997 |
| 2:238435911:T:C | L131P | 0.997 |
| 2:238435959:C:A | P147H | 0.997 |
| 2:238435785:G:T | G89V | 0.996 |
| 2:238435871:G:C | A118P | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000047305 (2:238448599 T>G), RS1000212024 (2:238426608 G>A,C,T), RS1000352995 (2:238447649 T>G), RS1000517245 (2:238425449 C>A), RS1000695669 (2:238430573 T>A), RS1000726589 (2:238430333 G>A), RS1000927193 (2:238436678 A>G), RS1000953235 (2:238425151 C>T), RS1001030594 (2:238444177 G>A), RS1001052652 (2:238441767 A>G), RS1001083682 (2:238441560 C>A,G,T), RS1001293533 (2:238435031 T>C,G), RS1001325486 (2:238444403 C>A,G,T), RS1001395643 (2:238440705 C>A,T), RS1001426776 (2:238440517 A>C,G)
Disease associations
OMIM: gene MIM:605758 | disease phenotypes: MIM:600430
GenCC curated gene-disease
Mondo (1): 2q37 microdeletion syndrome (MONDO:0010886)
Orphanet (1): 2q37 microdeletion syndrome (Orphanet:1001)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001251_1 | Pulmonary function | 7.000000e-08 |
| GCST003453_7 | Chronotype | 1.000000e-08 |
| GCST003784_4 | Multiple system atrophy | 4.000000e-06 |
| GCST003983_3 | Male-pattern baldness | 2.000000e-37 |
| GCST004185_18 | Lung function (FEV1/FVC) | 3.000000e-10 |
| GCST004250_35 | Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL) | 4.000000e-06 |
| GCST004792_4 | Amyotrophic lateral sclerosis in C9orf72 mutation positive individuals | 7.000000e-06 |
| GCST005790_88 | Rosacea symptom severity | 1.000000e-06 |
| GCST007565_124 | Morning person | 8.000000e-36 |
| GCST007565_147 | Morning person | 4.000000e-43 |
| GCST007565_209 | Morning person | 3.000000e-18 |
| GCST007576_2 | Chronotype | 4.000000e-43 |
| GCST007576_375 | Chronotype | 9.000000e-14 |
| GCST007692_11 | Chronic obstructive pulmonary disease | 3.000000e-08 |
| GCST009391_1159 | Metabolite levels | 9.000000e-07 |
| GCST010002_412 | Refractive error | 6.000000e-16 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003892 | pulmonary function measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0007965 | response to combination chemotherapy |
| EFO:0009180 | rosacea severity measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0010460 | anthranilic acid measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C538317 | Chromosome 2q37 deletion syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression, affects cotreatment | 5 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Benzo(a)pyrene | decreases expression, increases methylation, increases mutagenesis | 3 |
| Air Pollutants | increases expression, affects cotreatment, decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| apocarotenal | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | decreases expression, increases abundance, affects cotreatment | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 2-palmitoylglycerol | 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 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, decreases expression | 1 |
| Cycloheximide | affects cotreatment, increases expression | 1 |
| Dexamethasone | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ozone | decreases expression, increases abundance, affects cotreatment | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Selenium | affects cotreatment, increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01238250 | Not specified | RECRUITING | Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): 2q37 microdeletion syndrome, amyotrophic lateral sclerosis, androgenetic alopecia, chronic obstructive pulmonary disease, multiple system atrophy