KHDRBS2
gene geneOn this page
Also known as SLM1SLM-1MGC26664
Summary
KHDRBS2 (KH RNA binding domain containing, signal transduction associated 2, HGNC:18114) is a protein-coding gene on chromosome 6q11.1, encoding KH domain-containing, RNA-binding, signal transduction-associated protein 2 (Q5VWX1). RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion.
Predicted to enable mRNA binding activity and poly(A) binding activity. Predicted to be involved in regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be active in nucleus.
Source: NCBI Gene 202559 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 86 total
- MANE Select transcript:
NM_152688
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18114 |
| Approved symbol | KHDRBS2 |
| Name | KH RNA binding domain containing, signal transduction associated 2 |
| Location | 6q11.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SLM1, SLM-1, MGC26664 |
| Ensembl gene | ENSG00000112232 |
| Ensembl biotype | protein_coding |
| OMIM | 610487 |
| Entrez | 202559 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 2 nonsense_mediated_decay
ENST00000281156, ENST00000675091, ENST00000718012, ENST00000931671, ENST00000968831
RefSeq mRNA: 2 — MANE Select: NM_152688
NM_001350622, NM_152688
CCDS: CCDS4963
Canonical transcript exons
ENST00000281156 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000798513 | 61978066 | 61978212 |
| ENSE00000798514 | 62047878 | 62047994 |
| ENSE00000974311 | 61901244 | 61901371 |
| ENSE00000974312 | 61894635 | 61894833 |
| ENSE00001131050 | 62177185 | 62177312 |
| ENSE00001202716 | 61697195 | 61697253 |
| ENSE00001202727 | 61732682 | 61732764 |
| ENSE00001267739 | 62285858 | 62286225 |
| ENSE00004033889 | 61679961 | 61681060 |
Expression profiles
Bgee: expression breadth ubiquitous, 102 present calls, max score 85.25.
FANTOM5 (CAGE): breadth broad, TPM avg 3.9392 / max 200.9506, expressed in 455 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 74197 | 3.6351 | 454 |
| 74192 | 0.2359 | 55 |
| 74194 | 0.1207 | 54 |
| 74196 | 0.0831 | 52 |
| 74193 | 0.0719 | 38 |
| 74195 | 0.0284 | 15 |
Top tissues by expression
140 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 85.25 | gold quality |
| corpus callosum | UBERON:0002336 | 82.46 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.28 | gold quality |
| ganglionic eminence | UBERON:0004023 | 78.87 | gold quality |
| prefrontal cortex | UBERON:0000451 | 77.75 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 77.33 | gold quality |
| nucleus accumbens | UBERON:0001882 | 76.24 | gold quality |
| frontal cortex | UBERON:0001870 | 74.89 | gold quality |
| primary visual cortex | UBERON:0002436 | 74.30 | gold quality |
| cerebral cortex | UBERON:0000956 | 72.70 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 72.69 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 72.50 | gold quality |
| vastus lateralis | UBERON:0001379 | 72.40 | gold quality |
| cerebellar vermis | UBERON:0004720 | 71.59 | gold quality |
| hypothalamus | UBERON:0001898 | 71.58 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 71.46 | gold quality |
| thyroid gland | UBERON:0002046 | 70.30 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 69.97 | gold quality |
| caudate nucleus | UBERON:0001873 | 69.97 | gold quality |
| putamen | UBERON:0001874 | 69.63 | gold quality |
| right frontal lobe | UBERON:0002810 | 69.07 | gold quality |
| ventricular zone | UBERON:0003053 | 68.63 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 68.41 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 67.67 | gold quality |
| brain | UBERON:0000955 | 67.13 | gold quality |
| central nervous system | UBERON:0001017 | 66.88 | gold quality |
| lung | UBERON:0002048 | 66.79 | gold quality |
| temporal lobe | UBERON:0001871 | 66.63 | gold quality |
| Ammon’s horn | UBERON:0001954 | 66.48 | gold quality |
| amygdala | UBERON:0001876 | 66.42 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 3574.72 |
| E-GEOD-180759 | yes | 1983.21 |
| E-HCAD-35 | yes | 1923.50 |
| E-HCAD-25 | yes | 91.64 |
| E-ANND-3 | no | 3.89 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
113 targeting KHDRBS2, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
Literature-anchored findings (GeneRIF, showing 1)
- molecular cloning and characterization (PMID:12549823)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | khdrbs2 | ENSDARG00000069469 |
| mus_musculus | Khdrbs2 | ENSMUSG00000026058 |
| rattus_norvegicus | Khdrbs2 | ENSRNOG00000012284 |
| drosophila_melanogaster | qkr58E-3 | FBGN0022984 |
| drosophila_melanogaster | qkr58E-2 | FBGN0022985 |
| drosophila_melanogaster | qkr58E-1 | FBGN0022986 |
| drosophila_melanogaster | qkr54B | FBGN0022987 |
| drosophila_melanogaster | CG4021 | FBGN0034659 |
| drosophila_melanogaster | CG10384 | FBGN0034731 |
| drosophila_melanogaster | CG3927 | FBGN0034739 |
| drosophila_melanogaster | nsr | FBGN0034740 |
Paralogs (4): QKI (ENSG00000112531), KHDRBS1 (ENSG00000121774), KHDRBS3 (ENSG00000131773), SF1 (ENSG00000168066)
Protein
Protein identifiers
KH domain-containing, RNA-binding, signal transduction-associated protein 2 — Q5VWX1 (reviewed: Q5VWX1)
Alternative names: Sam68-like mammalian protein 1
All UniProt accessions (2): Q5VWX1, A0A6Q8PGH5
UniProt curated annotations — full annotation on UniProt →
Function. RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability. Induces an increased concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer. Can regulate alternative splicing of NRXN1 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. Regulates cell-type specific alternative splicing of NRXN1 at AS4 and acts synergystically with SAM68 in exon skipping. In contrast acts antagonistically with SAM68 in NRXN3 exon skipping at AS4. Its phosphorylation by FYN inhibits its ability to regulate splice site selection. May function as an adapter protein for Src kinases during mitosis.
Subunit / interactions. Self-associates to form homooligomers. Interacts with KHDRBS1/SAM68; heterooligomer formation of KHDRBS family proteins may modulate RNA substrate specificity. Interacts with RBMX. Interacts with SAFB, SFRS9 and YTHDC1. Interacts with FYN and PLCG1 (via SH3 domain). Interacts (phosphorylated) with FYN, GRB2, PLCG1 and RASA1 (via SH2 domain).
Subcellular location. Nucleus.
Tissue specificity. Highly expressed in brain, lung, kidney and small intestine. Weakly expressed in placenta, liver, spleen, thymus, ovary and colon.
Post-translational modifications. Methylated. Tyrosine phosphorylated by FYN, PTK6 and SRC. Tyrosine phosphorylated by SRC during mitosis.
Similarity. Belongs to the KHDRBS family.
RefSeq proteins (2): NP_001337551, NP_689901* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004087 | KH_dom | Domain |
| IPR032335 | Sam68-YY | Domain |
| IPR032571 | Qua1_dom | Domain |
| IPR036612 | KH_dom_type_1_sf | Homologous_superfamily |
| IPR045071 | BBP-like | Family |
| IPR055256 | KH_1_KHDC4/BBP-like | Domain |
Pfam: PF16274, PF16568, PF22675
UniProt features (11 total): sequence conflict 3, region of interest 2, modified residue 2, chain 1, domain 1, compositionally biased region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VWX1-F1 | 70.39 | 0.36 |
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 (2): 230, 240
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-8849468 | PTK6 Regulates Proteins Involved in RNA Processing |
| R-HSA-162582 | Signal Transduction |
| R-HSA-8848021 | Signaling by PTK6 |
| R-HSA-9006927 | Signaling by Non-Receptor Tyrosine Kinases |
MSigDB gene sets: 134 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, RORA1_01, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, AREB6_03, ATGTTAA_MIR302C, PUJANA_CHEK2_PCC_NETWORK, GOMF_SH2_DOMAIN_BINDING, AAAGACA_MIR511, GOBP_RNA_SPLICING, GOBP_REGULATION_OF_MRNA_SPLICING_VIA_SPLICEOSOME, GOBP_REGULATION_OF_RNA_SPLICING, TGGAAA_NFAT_Q4_01, ATGTAGC_MIR221_MIR222, GOMF_POLY_A_BINDING, GOMF_POLY_PYRIMIDINE_TRACT_BINDING
GO Biological Process (3): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA processing (GO:0006397), regulation of mRNA splicing, via spliceosome (GO:0048024)
GO Molecular Function (8): mRNA binding (GO:0003729), poly(A) binding (GO:0008143), poly(U) RNA binding (GO:0008266), SH3 domain binding (GO:0017124), SH2 domain binding (GO:0042169), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Signaling by PTK6 | 1 |
| Signaling by Non-Receptor Tyrosine Kinases | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein domain specific binding | 2 |
| binding | 2 |
| alternative mRNA splicing, via spliceosome | 1 |
| regulation of mRNA splicing, via spliceosome | 1 |
| RNA processing | 1 |
| mRNA metabolic process | 1 |
| mRNA splicing, via spliceosome | 1 |
| regulation of RNA splicing | 1 |
| regulation of mRNA processing | 1 |
| RNA binding | 1 |
| poly-purine tract binding | 1 |
| poly-pyrimidine tract binding | 1 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1256 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KHDRBS2 | CRYL1 | Q9Y2S2 | 817 |
| KHDRBS2 | PRMT1 | Q99873 | 732 |
| KHDRBS2 | PTK6 | Q13882 | 591 |
| KHDRBS2 | LGSN | Q5TDP6 | 557 |
| KHDRBS2 | ESRP1 | Q6NXG1 | 516 |
| KHDRBS2 | ESRP2 | Q9H6T0 | 504 |
| KHDRBS2 | TFEB | P19484 | 492 |
| KHDRBS2 | ARHGAP9 | Q9BRR9 | 483 |
| KHDRBS2 | KHSRP | Q92945 | 476 |
| KHDRBS2 | RBMX | P38159 | 474 |
| KHDRBS2 | MITF | O75030 | 473 |
| KHDRBS2 | SERPINA4 | P29622 | 467 |
| KHDRBS2 | C4orf33 | Q8N1A6 | 460 |
| KHDRBS2 | ZNF540 | Q8NDQ6 | 447 |
| KHDRBS2 | HNRNPM | P52272 | 431 |
| KHDRBS2 | HNRNPA0 | Q13151 | 431 |
IntAct
216 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RBMX | KHDRBS2 | psi-mi:“MI:0915”(physical association) | 0.850 |
| KHDRBS2 | RBMX | psi-mi:“MI:0915”(physical association) | 0.850 |
| KHDRBS2 | RBM3 | psi-mi:“MI:0915”(physical association) | 0.830 |
| RBM3 | KHDRBS2 | psi-mi:“MI:0915”(physical association) | 0.830 |
| KHDRBS3 | KHDRBS2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| PRPF31 | KHDRBS2 | psi-mi:“MI:0915”(physical association) | 0.790 |
| KHDRBS2 | PRPF31 | psi-mi:“MI:0915”(physical association) | 0.790 |
| KHDRBS2 | TYK2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TYK2 | KHDRBS2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| KHDRBS2 | SDCBP | psi-mi:“MI:0915”(physical association) | 0.720 |
| KHDRBS2 | PRR3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KHDRBS2 | CATSPER1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| DOCK2 | KHDRBS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| YTHDC1 | KHDRBS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (203): KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid), KHDRBS2 (Two-hybrid)
ESM2 similar proteins: B2GV05, B5FXN8, G3V9R8, O08583, O75525, O77768, P07910, P19600, P23588, P52756, P55795, P70333, P97379, P97855, Q08DJ0, Q0VFL7, Q13148, Q13283, Q1RMU5, Q28FB9, Q32LC7, Q3SZF3, Q3T0I4, Q58EA2, Q5R5W2, Q5R9L3, Q5RA82, Q5RB87, Q5RD26, Q5SRX1, Q5VWX1, Q5ZLN5, Q60HC3, Q64012, Q6AY09, Q6GLW1, Q86SE5, Q86V81, Q8BGD9, Q8BTF8
Diamond homologs: G5EFF1, O01367, O74555, O75525, P0CO44, P0CO45, P13230, Q07666, Q08BJ2, Q0VFL3, Q0WLR1, Q12186, Q15637, Q17339, Q32NN2, Q4P0H7, Q4WXV6, Q54BM5, Q5AED9, Q5VWX1, Q5W9D5, Q5W9D6, Q5W9D7, Q60749, Q64213, Q6BSP4, Q6C187, Q6FW77, Q6IRN2, Q6P0D0, Q6P104, Q750X2, Q75GR5, Q7JJZ8, Q8GWR3, Q8GYR4, Q8NIW7, Q8UUW7, Q91V33, Q91XU1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 59 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 |
|---|---|---|---|
| mRNA Splicing - Major Pathway | 6 | 9.1× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of mRNA splicing, via spliceosome | 5 | 55.5× | 5e-06 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 34.9× | 4e-07 |
| mRNA splicing, via spliceosome | 8 | 14.9× | 6e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
86 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 68 |
| Likely benign | 4 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5929 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:61697251:ACA:A | acceptor_gain | 1.0000 |
| 6:61697252:CA:C | acceptor_gain | 1.0000 |
| 6:61697252:CAC:C | acceptor_gain | 1.0000 |
| 6:61697254:C:CC | acceptor_gain | 1.0000 |
| 6:61707328:A:AC | donor_gain | 1.0000 |
| 6:61707329:C:CC | donor_gain | 1.0000 |
| 6:61732676:CCTTA:C | donor_loss | 1.0000 |
| 6:61732677:CTTA:C | donor_loss | 1.0000 |
| 6:61732678:TTA:T | donor_loss | 1.0000 |
| 6:61732679:TACCT:T | donor_loss | 1.0000 |
| 6:61732680:A:AC | donor_gain | 1.0000 |
| 6:61732680:A:AG | donor_loss | 1.0000 |
| 6:61732680:AC:A | donor_gain | 1.0000 |
| 6:61732681:C:A | donor_loss | 1.0000 |
| 6:61732681:C:CC | donor_gain | 1.0000 |
| 6:61732681:CC:C | donor_gain | 1.0000 |
| 6:61732681:CCT:C | donor_gain | 1.0000 |
| 6:61732760:TAACC:T | acceptor_gain | 1.0000 |
| 6:61732761:AACC:A | acceptor_gain | 1.0000 |
| 6:61732762:ACC:A | acceptor_gain | 1.0000 |
| 6:61732763:CC:C | acceptor_gain | 1.0000 |
| 6:61732763:CCC:C | acceptor_gain | 1.0000 |
| 6:61732763:CCCTG:C | acceptor_loss | 1.0000 |
| 6:61732764:CC:C | acceptor_gain | 1.0000 |
| 6:61732765:C:CA | acceptor_loss | 1.0000 |
| 6:61732765:C:CC | acceptor_gain | 1.0000 |
| 6:61732765:C:T | acceptor_gain | 1.0000 |
| 6:61732766:T:A | acceptor_loss | 1.0000 |
| 6:61732771:C:CT | acceptor_gain | 1.0000 |
| 6:61732772:A:T | acceptor_gain | 1.0000 |
AlphaMissense
2245 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:61901331:A:G | L175S | 1.000 |
| 6:61901335:C:T | E174K | 1.000 |
| 6:61901340:A:G | L172P | 1.000 |
| 6:61901342:T:A | Q171H | 1.000 |
| 6:61901342:T:G | Q171H | 1.000 |
| 6:61901343:T:G | Q171P | 1.000 |
| 6:61901355:A:C | I167S | 1.000 |
| 6:61901355:A:G | I167T | 1.000 |
| 6:61901360:A:C | D165E | 1.000 |
| 6:61901360:A:T | D165E | 1.000 |
| 6:61901361:T:A | D165V | 1.000 |
| 6:61901361:T:C | D165G | 1.000 |
| 6:61901361:T:G | D165A | 1.000 |
| 6:61901362:C:A | D165Y | 1.000 |
| 6:61901362:C:G | D165H | 1.000 |
| 6:61978067:G:T | P161H | 1.000 |
| 6:61978073:A:G | L159P | 1.000 |
| 6:61978073:A:T | L159Q | 1.000 |
| 6:61978075:G:C | F158L | 1.000 |
| 6:61978075:G:T | F158L | 1.000 |
| 6:61978076:A:G | F158S | 1.000 |
| 6:61978077:A:G | F158L | 1.000 |
| 6:61978097:G:T | A151E | 1.000 |
| 6:61978109:C:G | R147P | 1.000 |
| 6:61978118:G:T | A144D | 1.000 |
| 6:61978145:A:T | I135N | 1.000 |
| 6:61978151:A:T | V133E | 1.000 |
| 6:61978154:T:G | H132P | 1.000 |
| 6:61978157:A:G | L131P | 1.000 |
| 6:61978157:A:T | L131H | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000425 (6:61660266 G>A,C), RS1000001003 (6:62188974 G>A,T), RS1000002348 (6:61937701 C>A,T), RS1000009440 (6:61681119 A>G,T), RS1000015220 (6:62076848 C>A), RS1000022092 (6:61590615 C>T), RS1000040824 (6:61576588 T>A,C), RS1000044133 (6:61734413 C>T), RS1000046548 (6:62077063 A>G), RS1000049020 (6:61899058 T>C), RS1000050461 (6:62028267 T>A,C), RS1000051669 (6:61590448 T>G), RS1000059590 (6:61893354 A>G), RS1000064486 (6:61739730 A>C), RS1000068538 (6:62241448 A>C)
Disease associations
OMIM: gene MIM:610487 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000189_38 | Protein quantitative trait loci | 3.000000e-07 |
| GCST003563_7 | Presence of antiphospholipid antibodies | 4.000000e-06 |
| GCST003739_2 | Esophageal adenocarcinoma | 2.000000e-08 |
| GCST003740_8 | Barrett’s esophagus or Esophageal adenocarcinoma | 3.000000e-09 |
| GCST004735_23 | Epstein-Barr virus copy number in lymphoblastoid cell lines | 2.000000e-06 |
| GCST004735_24 | Epstein-Barr virus copy number in lymphoblastoid cell lines | 9.000000e-06 |
| GCST004735_25 | Epstein-Barr virus copy number in lymphoblastoid cell lines | 4.000000e-07 |
| GCST007157_4 | Corneal astigmatism | 4.000000e-06 |
| GCST007576_279 | Chronotype | 3.000000e-13 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:1002040 | Corneal astigmatism |
| EFO:0008328 | chronotype measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, decreases methylation | 2 |
| bisphenol A | increases methylation | 1 |
| terbufos | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Vehicle Emissions | decreases methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Estradiol | affects binding, increases reaction | 1 |
| Parathion | increases methylation | 1 |
| Rotenone | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Genistein | affects binding, increases reaction | 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): Barrett esophagus, Epstein-Barr virus infection, esophageal adenocarcinoma