SH2D1B
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Also known as EAT2
Summary
SH2D1B (SH2 domain containing 1B, HGNC:30416) is a protein-coding gene on chromosome 1q23.3, encoding SH2 domain-containing protein 1B (O14796). Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as CD84, SLAMF1, LY9 and CD244.
By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).
Source: NCBI Gene 117157 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 20 total
- MANE Select transcript:
NM_053282
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30416 |
| Approved symbol | SH2D1B |
| Name | SH2 domain containing 1B |
| Location | 1q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EAT2 |
| Ensembl gene | ENSG00000198574 |
| Ensembl biotype | protein_coding |
| OMIM | 608510 |
| Entrez | 117157 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron
ENST00000367929, ENST00000493550, ENST00000852031
RefSeq mRNA: 1 — MANE Select: NM_053282
NM_053282
CCDS: CCDS30928
Canonical transcript exons
ENST00000367929 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001201242 | 162402739 | 162402802 |
| ENSE00001227609 | 162398923 | 162399087 |
| ENSE00001425016 | 162395268 | 162397315 |
| ENSE00001510901 | 162411883 | 162412136 |
Expression profiles
Bgee: expression breadth ubiquitous, 153 present calls, max score 93.14.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.3150 / max 482.1776, expressed in 160 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15673 | 1.2370 | 152 |
| 201793 | 0.0398 | 13 |
| 15672 | 0.0382 | 18 |
Top tissues by expression
234 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 93.14 | gold quality |
| gastrocnemius | UBERON:0001388 | 81.05 | gold quality |
| blood | UBERON:0000178 | 80.46 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.44 | gold quality |
| leukocyte | CL:0000738 | 79.26 | gold quality |
| muscle of leg | UBERON:0001383 | 79.22 | gold quality |
| sperm | CL:0000019 | 78.43 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 78.09 | gold quality |
| monocyte | CL:0000576 | 77.95 | gold quality |
| amniotic fluid | UBERON:0000173 | 77.45 | gold quality |
| deltoid | UBERON:0001476 | 75.29 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 74.62 | gold quality |
| spleen | UBERON:0002106 | 73.60 | gold quality |
| buccal mucosa cell | CL:0002336 | 72.70 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 71.78 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 70.58 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 69.59 | silver quality |
| biceps brachii | UBERON:0001507 | 69.24 | silver quality |
| endothelial cell | CL:0000115 | 68.95 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 68.01 | gold quality |
| muscle tissue | UBERON:0002385 | 65.50 | gold quality |
| vastus lateralis | UBERON:0001379 | 64.31 | silver quality |
| colonic epithelium | UBERON:0000397 | 64.13 | silver quality |
| quadriceps femoris | UBERON:0001377 | 63.79 | silver quality |
| bone marrow cell | CL:0002092 | 62.85 | silver quality |
| bone marrow | UBERON:0002371 | 62.61 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 61.27 | gold quality |
| right lung | UBERON:0002167 | 61.22 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 61.11 | silver quality |
| lymph node | UBERON:0000029 | 60.53 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-70580 | yes | 957.91 |
| E-CURD-122 | yes | 51.93 |
| E-MTAB-6678 | yes | 31.89 |
| E-ANND-3 | yes | 25.06 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
109 targeting SH2D1B, 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
Literature-anchored findings (GeneRIF, showing 4)
- NTB-A-mediated IFN-gamma production was greatly reduced in the absence of SLAM-associated protein (SAP), demonstrating that cytokine production and cytotoxicity are differentially dependent on SAP and possibly EAT-2 (PMID:16920955)
- Data indicate that Ewing’s sarcoma-associated transcript-2 (EAT-2) over-expression increased the anti-tumor activity of NK cells against K562 tumor cell. targets. (PMID:24374770)
- EAT-2 mediates its effects in natural killer cells by linking SLAM family receptors to phospholipase Cgamma, calcium fluxes, and Erk kinase. (PMID:24687958)
- When compared with SAP, the other single SH2 domain protein in human, EAT2 shows similar binding energies to unphosphorylated ligands. This is inconsistent to the previous data showing low affinity of EAT2 toward unphosphorylated peptides compared to SAP which shows high affinity (PMID:27586300)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | inppl1b | ENSDARG00000001442 |
| mus_musculus | Sh2d1b2 | ENSMUSG00000073494 |
| mus_musculus | Sh2d1b1 | ENSMUSG00000102418 |
| rattus_norvegicus | Sh2d1b2 | ENSRNOG00000069420 |
| drosophila_melanogaster | CG9784 | FBGN0030761 |
| drosophila_melanogaster | CG6805 | FBGN0034179 |
| drosophila_melanogaster | Synj | FBGN0034691 |
| drosophila_melanogaster | sp3 | FBGN0038890 |
| caenorhabditis_elegans | WBGENE00006763 | |
| caenorhabditis_elegans | sac-2 | WBGENE00012353 |
Paralogs (13): SYNJ2 (ENSG00000078269), FIG4 (ENSG00000112367), OCRL (ENSG00000122126), INPP5K (ENSG00000132376), INPP5E (ENSG00000148384), SYNJ1 (ENSG00000159082), INPPL1 (ENSG00000165458), INPP5D (ENSG00000168918), SH2D1A (ENSG00000183918), INPP5J (ENSG00000185133), INPP5F (ENSG00000198825), INPP5B (ENSG00000204084), SACM1L (ENSG00000211456)
Protein
Protein identifiers
SH2 domain-containing protein 1B — O14796 (reviewed: O14796)
Alternative names: EWS/FLI1-activated transcript 2
All UniProt accessions (1): O14796
UniProt curated annotations — full annotation on UniProt →
Function. Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as CD84, SLAMF1, LY9 and CD244. In SLAM signaling seems to cooperate with SH2D1A/SAP. Plays a role in regulation of effector functions of natural killer (NK) cells by controlling signal transduction through CD244/2B4 without effecting its tyrosine phosphorylation; downstream signaling involves PLCG1 and ERK activation. Activation of SLAMF7-mediated NK cell function does not effect receptor tyrosine phosphorylation but distal signaling. In the context of NK cell-mediated cytotoxicity does not enhance conjugate formation with target cells but stimulates polarization of the microtubule-organizing center and cytotoxic granules toward the NK cell synapse. Negatively regulates CD40-induced cytokine production in dendritic cells downstream of SLAM family receptors probably by inducing activation of the PI3K pathway to inhibit p38 MAPK and JNK activation.
Subunit / interactions. Binds to the phosphorylated receptors CD84, SLAMF1, LY9 and CD244. Does not bind to non-phosphorylated SLAMF1. Interacts with SLAMF7 (via ITSM phosphorylated on ‘Tyr-304’). Interacts with Src kinases HCK, LYN, FYN, FGR and LCK (via kinase domains). Interacts (phosphorylated at Tyr-127) with PLCG1.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O14796-1 | 1 | yes |
| O14796-2 | 2 |
RefSeq proteins (1): NP_444512* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000980 | SH2 | Domain |
| IPR035049 | EAT2_SH2 | Domain |
| IPR036860 | SH2_dom_sf | Homologous_superfamily |
Pfam: PF00017
UniProt features (16 total): strand 7, helix 2, sequence variant 2, chain 1, domain 1, modified residue 1, splice variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5KAZ | X-RAY DIFFRACTION | 1.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14796-F1 | 80.44 | 0.61 |
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): 127
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 127 | no stimulation of granule polarization during nk-mediated cytotoxicity, abolishes activation of cd244/2b4-mediated cytot |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 117 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY, ROZANOV_MMP14_TARGETS_UP, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_REGULATION_OF_LYMPHOCYTE_MEDIATED_IMMUNITY, TGANTCA_AP1_C, GOBP_ADAPTIVE_IMMUNE_RESPONSE, GOBP_NATURAL_KILLER_CELL_MEDIATED_IMMUNITY, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS
GO Biological Process (6): adaptive immune response (GO:0002250), leukocyte activation involved in immune response (GO:0002366), positive regulation of natural killer cell mediated immunity (GO:0002717), innate immune response (GO:0045087), positive regulation of innate immune response (GO:0045089), immune system process (GO:0002376)
GO Molecular Function (2): protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)
GO Cellular Component (1): cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| immune response | 3 |
| cell activation involved in immune response | 1 |
| leukocyte activation | 1 |
| natural killer cell mediated immunity | 1 |
| positive regulation of lymphocyte mediated immunity | 1 |
| regulation of natural killer cell mediated immunity | 1 |
| positive regulation of innate immune response | 1 |
| defense response to symbiont | 1 |
| positive regulation of response to biotic stimulus | 1 |
| positive regulation of defense response | 1 |
| positive regulation of response to external stimulus | 1 |
| innate immune response | 1 |
| regulation of innate immune response | 1 |
| positive regulation of immune response | 1 |
| biological_process | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
734 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SH2D1B | LY9 | Q9HBG7 | 937 |
| SH2D1B | CD84 | Q9UIB8 | 936 |
| SH2D1B | CD244 | Q9BZW8 | 864 |
| SH2D1B | SLAMF1 | Q13291 | 824 |
| SH2D1B | SLAMF6 | Q96DU3 | 813 |
| SH2D1B | SLAMF7 | Q9NQ25 | 783 |
| SH2D1B | EIF4A1 | P04765 | 777 |
| SH2D1B | PTPN11 | Q06124 | 760 |
| SH2D1B | CD2 | P06729 | 755 |
| SH2D1B | EWSR1 | Q01844 | 682 |
| SH2D1B | EIF4A2 | Q14240 | 662 |
| SH2D1B | FYN | P06241 | 612 |
| SH2D1B | KLRC2 | P26717 | 603 |
| SH2D1B | CD48 | P09326 | 543 |
| SH2D1B | SLAMF9 | Q96A28 | 541 |
IntAct
99 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM54 | SH2D1B | psi-mi:“MI:0915”(physical association) | 0.720 |
| SH2D1B | TRIM54 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SH2D1B | CD244 | psi-mi:“MI:0407”(direct interaction) | 0.690 |
| CD244 | SH2D1B | psi-mi:“MI:0914”(association) | 0.690 |
| SH2D1B | CD244 | psi-mi:“MI:0915”(physical association) | 0.690 |
| SLAMF6 | SH2D1B | psi-mi:“MI:0914”(association) | 0.620 |
| SH2D1B | SLAMF6 | psi-mi:“MI:0915”(physical association) | 0.620 |
| SH2D1B | psi-mi:“MI:0915”(physical association) | 0.570 | |
| SH2D1B | psi-mi:“MI:0915”(physical association) | 0.570 | |
| SH2D1B | TCF12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH2D1B | DDIT4L | psi-mi:“MI:0915”(physical association) | 0.560 |
| BLK | SH2D1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH2D1B | AGR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH2D1B | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SH2D1B | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH2D1B | TNK2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH2D1B | BLK | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (35): SH2D1B (Two-hybrid), HSPA1A (Two-hybrid), STAT4 (Two-hybrid), SH2D1B (Two-hybrid), OLIG1 (Two-hybrid), PTK2 (Two-hybrid), HSPA1A (Affinity Capture-Luminescence), OLIG1 (Affinity Capture-Luminescence), SH2D1B (Two-hybrid), SH2D1B (Two-hybrid), SH2D1B (Two-hybrid), SH2D1B (Two-hybrid), SH2D1B (Two-hybrid), SH2D1B (Two-hybrid), SH2D1B (Two-hybrid)
ESM2 similar proteins: B2RZ59, O12990, O14543, O14796, O35324, O35718, O60880, O88583, O88890, O88900, P05433, P08487, P0CE43, P10686, P19174, P43403, P43404, P43405, P46108, P46109, P47941, P81718, P87378, P97504, Q00655, Q04929, Q06AA1, Q09178, Q14449, Q22070, Q2I6J0, Q3ZBB1, Q45HK4, Q5ICW4, Q5U2U2, Q60760, Q62077, Q62120, Q62689, Q63768
Diamond homologs: A0A8I3NFE2, A0FI79, A0JNB0, A1Y2K1, A6QLK6, B2RZ59, B5KFD7, D3ZGS3, D7PF45, F1RDG9, G5ECJ6, O14306, O14796, O15357, O35324, O60880, O88890, O88900, P00519, P00520, P00521, P00522, P03949, P06239, P06241, P09851, P0CE43, P10447, P17713, P20936, P29350, P29351, P32019, P34370, P39688, P42684, P42685, P42686, P50904, P53356
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 32 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 |
|---|---|---|---|
| Constitutive Signaling by Aberrant PI3K in Cancer | 6 | 34.6× | 4e-06 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 6 | 26.4× | 1e-05 |
| PIP3 activates AKT signaling | 6 | 18.2× | 5e-05 |
| RAF/MAP kinase cascade | 6 | 16.7× | 6e-05 |
| Signaling by Receptor Tyrosine Kinases | 5 | 11.7× | 8e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| epidermal growth factor receptor signaling pathway | 6 | 46.5× | 1e-06 |
| adaptive immune response | 5 | 13.2× | 3e-03 |
| immune response | 6 | 8.8× | 3e-03 |
| intracellular signal transduction | 6 | 7.2× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
20 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
573 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:162411881:A:AC | donor_gain | 1.0000 |
| 1:162411882:C:CC | donor_gain | 1.0000 |
| 1:162411882:CGAGA:C | donor_gain | 1.0000 |
| 1:162411952:T:TA | donor_gain | 1.0000 |
| 1:162397311:CTGTT:C | acceptor_gain | 0.9900 |
| 1:162402800:AACCT:A | acceptor_loss | 0.9900 |
| 1:162402801:ACCTG:A | acceptor_loss | 0.9900 |
| 1:162402804:T:G | acceptor_loss | 0.9900 |
| 1:162402805:G:C | acceptor_loss | 0.9900 |
| 1:162411877:ACTCA:A | donor_loss | 0.9900 |
| 1:162411878:CTCA:C | donor_loss | 0.9900 |
| 1:162411879:T:TG | donor_loss | 0.9900 |
| 1:162411880:CAC:C | donor_loss | 0.9900 |
| 1:162411881:ACGAG:A | donor_loss | 0.9900 |
| 1:162411882:CG:C | donor_gain | 0.9900 |
| 1:162411882:CGAG:C | donor_gain | 0.9900 |
| 1:162397318:T:C | acceptor_gain | 0.9800 |
| 1:162398922:C:CT | donor_gain | 0.9800 |
| 1:162411882:CGA:C | donor_gain | 0.9800 |
| 1:162398955:T:A | donor_gain | 0.9700 |
| 1:162399003:C:CT | donor_gain | 0.9700 |
| 1:162402733:TCTTA:T | donor_loss | 0.9700 |
| 1:162402734:CTTA:C | donor_loss | 0.9700 |
| 1:162402735:TTAC:T | donor_loss | 0.9700 |
| 1:162402736:TACC:T | donor_loss | 0.9700 |
| 1:162402737:A:C | donor_loss | 0.9700 |
| 1:162402738:C:CT | donor_loss | 0.9700 |
| 1:162411973:CAGT:C | donor_gain | 0.9700 |
| 1:162397316:C:CC | acceptor_gain | 0.9600 |
| 1:162398896:TTCTG:T | donor_gain | 0.9600 |
AlphaMissense
860 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:162411924:T:A | R31S | 0.989 |
| 1:162411924:T:G | R31S | 0.989 |
| 1:162411933:A:C | F28L | 0.988 |
| 1:162411933:A:T | F28L | 0.988 |
| 1:162411935:A:G | F28L | 0.988 |
| 1:162411931:A:G | L29P | 0.984 |
| 1:162411918:G:C | S33R | 0.983 |
| 1:162411918:G:T | S33R | 0.983 |
| 1:162411920:T:G | S33R | 0.983 |
| 1:162411940:C:T | G26D | 0.983 |
| 1:162411940:C:A | G26V | 0.982 |
| 1:162399041:A:G | L82P | 0.980 |
| 1:162411925:C:G | R31T | 0.980 |
| 1:162402788:A:T | V50D | 0.978 |
| 1:162411892:A:G | L42P | 0.978 |
| 1:162411894:G:C | C41W | 0.978 |
| 1:162411925:C:A | R31I | 0.977 |
| 1:162411886:A:T | V44D | 0.976 |
| 1:162411890:A:G | C43R | 0.975 |
| 1:162399058:A:C | F76L | 0.974 |
| 1:162399058:A:T | F76L | 0.974 |
| 1:162399060:A:G | F76L | 0.974 |
| 1:162411896:A:G | C41R | 0.974 |
| 1:162411928:A:G | L30S | 0.973 |
| 1:162411888:A:C | C43W | 0.970 |
| 1:162402776:C:G | R54P | 0.969 |
| 1:162411931:A:T | L29H | 0.969 |
| 1:162411972:A:C | C15W | 0.969 |
| 1:162402773:A:G | I55T | 0.967 |
| 1:162402773:A:C | I55S | 0.966 |
dbSNP variants (sampled 300 via entrez): RS1000210350 (1:162405214 A>C,G), RS1000229443 (1:162408937 A>G), RS1000231526 (1:162402539 A>C,G), RS1000384990 (1:162398932 T>A,C), RS1000645036 (1:162397153 T>C), RS1000716869 (1:162397564 C>A,T), RS1000948032 (1:162403660 T>C), RS1000949588 (1:162407338 C>G), RS1000980586 (1:162410040 G>T), RS1001013030 (1:162409713 G>A), RS1001831173 (1:162402061 G>A,C,T), RS1002216423 (1:162402357 A>C), RS1002317549 (1:162395237 T>G), RS1002390978 (1:162395706 A>G), RS1002611658 (1:162402466 C>A,G,T)
Disease associations
OMIM: gene MIM:608510 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006575_29 | Takayasu arteritis | 2.000000e-07 |
| GCST010538_3 | Sum of carotid plaque area | 5.000000e-06 |
| GCST010539_2 | Sum of stenosis | 4.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006501 | carotid plaque build |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| triphenyl phosphate | affects expression | 1 |
| butyraldehyde | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | affects expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Progesterone | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Okadaic Acid | increases 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): Takayasu arteritis