SLA2
gene geneOn this page
Also known as FLJ21992SLAP-2
Summary
SLA2 (Src like adaptor 2, HGNC:17329) is a protein-coding gene on chromosome 20q11.23, encoding Src-like-adapter 2 (Q9H6Q3). Adapter protein, which negatively regulates T-cell receptor (TCR) signaling.
This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene.
Source: NCBI Gene 84174 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 49 total
- MANE Select transcript:
NM_032214
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17329 |
| Approved symbol | SLA2 |
| Name | Src like adaptor 2 |
| Location | 20q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ21992, SLAP-2 |
| Ensembl gene | ENSG00000101082 |
| Ensembl biotype | protein_coding |
| OMIM | 606577 |
| Entrez | 84174 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000262866, ENST00000360672, ENST00000876805, ENST00000876806, ENST00000948638, ENST00000948639
RefSeq mRNA: 2 — MANE Select: NM_032214
NM_032214, NM_175077
CCDS: CCDS13282, CCDS13283
Canonical transcript exons
ENST00000262866 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000661775 | 36632595 | 36632698 |
| ENSE00000661776 | 36615225 | 36615374 |
| ENSE00000661777 | 36614305 | 36614437 |
| ENSE00000800424 | 36633543 | 36633629 |
| ENSE00000800425 | 36634490 | 36634589 |
| ENSE00001290193 | 36645837 | 36646196 |
| ENSE00001388358 | 36641245 | 36641378 |
| ENSE00001894282 | 36612318 | 36613986 |
Expression profiles
Bgee: expression breadth ubiquitous, 163 present calls, max score 91.62.
FANTOM5 (CAGE): breadth broad, TPM avg 5.8716 / max 260.4362, expressed in 246 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187127 | 5.8716 | 246 |
Top tissues by expression
240 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 91.62 | gold quality |
| granulocyte | CL:0000094 | 88.99 | gold quality |
| leukocyte | CL:0000738 | 88.57 | gold quality |
| monocyte | CL:0000576 | 88.50 | gold quality |
| blood | UBERON:0000178 | 87.64 | gold quality |
| ileal mucosa | UBERON:0000331 | 82.55 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.95 | gold quality |
| lymph node | UBERON:0000029 | 77.67 | gold quality |
| oviduct epithelium | UBERON:0004804 | 76.79 | gold quality |
| spleen | UBERON:0002106 | 75.04 | gold quality |
| vermiform appendix | UBERON:0001154 | 74.93 | gold quality |
| superficial temporal artery | UBERON:0001614 | 74.66 | silver quality |
| oocyte | CL:0000023 | 73.80 | silver quality |
| bone marrow cell | CL:0002092 | 73.77 | gold quality |
| bone marrow | UBERON:0002371 | 73.62 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 71.98 | gold quality |
| amniotic fluid | UBERON:0000173 | 71.88 | gold quality |
| secondary oocyte | CL:0000655 | 70.23 | silver quality |
| caecum | UBERON:0001153 | 70.08 | gold quality |
| right lung | UBERON:0002167 | 69.84 | gold quality |
| thymus | UBERON:0002370 | 69.55 | gold quality |
| colonic epithelium | UBERON:0000397 | 69.10 | gold quality |
| gall bladder | UBERON:0002110 | 68.26 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 68.00 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 67.69 | gold quality |
| tibialis anterior | UBERON:0001385 | 66.84 | silver quality |
| upper lobe of left lung | UBERON:0008952 | 66.50 | gold quality |
| upper lobe of lung | UBERON:0008948 | 65.97 | gold quality |
| tonsil | UBERON:0002372 | 65.89 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 65.82 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 29.37 |
| E-CURD-122 | yes | 24.57 |
| E-CURD-88 | yes | 20.29 |
| E-ANND-3 | yes | 8.07 |
| E-MTAB-9801 | yes | 5.92 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| CD69 | Unknown |
miRNA regulators (miRDB)
71 targeting SLA2, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-3682-3P | 99.58 | 67.63 | 865 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-6833-5P | 99.50 | 68.93 | 1161 |
Literature-anchored findings (GeneRIF, showing 5)
- negatively regulates T cell receptor signaling (PMID:11891219)
- The human SLAP-2 gene is located on chromosome 20q, and the SLAP-2 coding region consists of seven exons, a unique cDNA encoding an alternatively spliced SLAP-2 isoform has been identified (PMID:12527895)
- In platelets, SLAP-2 may have function as a negative regulator of GPVI-mediated signaling by interacting with c-Cbl. (PMID:20828795)
- SLAP2 SH3 and SH2 domains are separated by a short SH3-SH2 connector sequence. (PMID:24018043)
- SLAP2 Adaptor Binding Disrupts c-CBL Autoinhibition to Activate Ubiquitin Ligase Function. (PMID:33617900)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sla2b | ENSDARG00000020788 |
| danio_rerio | sla2a | ENSDARG00000099887 |
| mus_musculus | Sla2 | ENSMUSG00000027636 |
| rattus_norvegicus | Sla2 | ENSRNOG00000020337 |
| drosophila_melanogaster | dock | FBGN0010583 |
| caenorhabditis_elegans | WBGENE00006410 |
Paralogs (9): DAPP1 (ENSG00000070190), NCK2 (ENSG00000071051), GRAP2 (ENSG00000100351), GRAP (ENSG00000154016), SLA (ENSG00000155926), NCK1 (ENSG00000158092), GRB2 (ENSG00000177885), GRAPL (ENSG00000189152), SH2D5 (ENSG00000189410)
Protein
Protein identifiers
Src-like-adapter 2 — Q9H6Q3 (reviewed: Q9H6Q3)
Alternative names: Modulator of antigen receptor signaling, Src-like adapter protein 2
All UniProt accessions (1): Q9H6Q3
UniProt curated annotations — full annotation on UniProt →
Function. Adapter protein, which negatively regulates T-cell receptor (TCR) signaling. Inhibits T-cell antigen-receptor induced activation of nuclear factor of activated T-cells. May act by linking signaling proteins such as ZAP70 with CBL, leading to a CBL dependent degradation of signaling proteins.
Subunit / interactions. Interacts (via SH2 domain) with ZAP70 (phosphorylated) and CD3Z (phosphorylated). Interacts (via SH2 domain) with CSF1R (phosphorylated). Interacts (via its C-terminal domain) with CBL (phosphorylated).
Subcellular location. Cytoplasm Cell membrane. Cytoplasmic vesicle Cytoplasm.
Tissue specificity. Predominantly expressed in immune system, with highest levels in peripheral blood leukocytes. Expressed in spleen, thymus and lymph nodes. Expressed in T-cells as well as in monocytes, and at low level in B-cells. Also detected in placenta, prostate, skin, retina and colon.
Post-translational modifications. Phosphorylated by CSF1R.
Domain organisation. The loss of the C-terminal domain partially abolishes the inhibitory function, but can be partially compensated by higher level of protein expression.
Miscellaneous. Produced by alternative initiation at Met-28 of isoform 1. Produced by alternative initiation at Met-28 of isoform 2.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H6Q3-1 | 1, p28 | yes |
| Q9H6Q3-2 | 2, p23, SLAP-2-v, MARS-v | |
| Q9H6Q3-3 | 3, p25 | |
| Q9H6Q3-4 | 4, p20 |
RefSeq proteins (2): NP_115590, NP_778252 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000980 | SH2 | Domain |
| IPR001452 | SH3_domain | Domain |
| IPR035052 | SLAP_SH2 | Domain |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR036860 | SH2_dom_sf | Homologous_superfamily |
| IPR043539 | Grb2-like | Family |
Pfam: PF00017, PF00018
UniProt features (30 total): strand 12, splice variant 3, helix 3, turn 2, domain 2, region of interest 2, initiator methionine 1, chain 1, sequence variant 1, mutagenesis site 1, compositionally biased region 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4M4Z | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H6Q3-F1 | 76.52 | 0.37 |
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): 2
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 2 | abolishes localization to membranes. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-9706369 | Negative regulation of FLT3 |
| R-HSA-1280215 | Cytokine Signaling in Immune system |
| R-HSA-168256 | Immune System |
| R-HSA-9607240 | FLT3 Signaling |
MSigDB gene sets: 134 (showing top):
GOBP_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, RACCACAR_AML_Q6, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_B_CELL_MEDIATED_IMMUNITY, GOBP_NEGATIVE_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY, TGCTGAY_UNKNOWN, GOBP_ADAPTIVE_IMMUNE_RESPONSE, GOBP_T_CELL_RECEPTOR_SIGNALING_PATHWAY
GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), B cell mediated immunity (GO:0019724), T cell activation (GO:0042110), regulation of immune response (GO:0050776), negative regulation of calcium-mediated signaling (GO:0050849), antigen receptor-mediated signaling pathway (GO:0050851), negative regulation of T cell receptor signaling pathway (GO:0050860)
GO Molecular Function (2): signaling adaptor activity (GO:0035591), protein binding (GO:0005515)
GO Cellular Component (10): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), late endosome (GO:0005770), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), endosome membrane (GO:0010008), endomembrane system (GO:0012505), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| FLT3 Signaling | 1 |
| Immune System | 1 |
| Cytokine Signaling in Immune system | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| cytoplasm | 3 |
| endosome | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| lymphocyte mediated immunity | 1 |
| adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains | 1 |
| lymphocyte activation | 1 |
| regulation of immune system process | 1 |
| immune response | 1 |
| regulation of response to stimulus | 1 |
| calcium-mediated signaling | 1 |
| regulation of calcium-mediated signaling | 1 |
| negative regulation of intracellular signal transduction | 1 |
| immune response-activating cell surface receptor signaling pathway | 1 |
| T cell receptor signaling pathway | 1 |
| regulation of T cell receptor signaling pathway | 1 |
| negative regulation of antigen receptor-mediated signaling pathway | 1 |
| protein-macromolecule adaptor activity | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
1292 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLA2 | HIP1R | O75146 | 951 |
| SLA2 | TLN2 | Q9Y4G6 | 786 |
| SLA2 | TLN1 | Q9Y490 | 784 |
| SLA2 | SLMAP | Q14BN4 | 777 |
| SLA2 | HTT | P42858 | 736 |
| SLA2 | CLTC | Q00610 | 734 |
| SLA2 | SNAP91 | O60641 | 703 |
| SLA2 | NLRP2 | Q9NX02 | 669 |
| SLA2 | SLC29A1 | Q99808 | 636 |
| SLA2 | CBL | P22681 | 623 |
| SLA2 | ZNF461 | Q8TAF7 | 601 |
| SLA2 | EPN3 | Q9H201 | 596 |
| SLA2 | EPN2 | O95208 | 583 |
| SLA2 | CLTCL1 | P53675 | 580 |
| SLA2 | FCHO1 | O14526 | 574 |
IntAct
26 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRKAA2 | SLA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBASH3A | SLA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EGFR | SLA2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| SLA2 | EGFR | psi-mi:“MI:0915”(physical association) | 0.550 |
| MAP1LC3A | SLA2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLA2 | ERBB2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLA2 | GAB1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLA2 | KIT | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLA2 | MET | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ALK | SLA2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ALB | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLA2 | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
| PRKAA2 | SLA2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| UBASH3A | SLA2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (39): SLA2 (Two-hybrid), SLA2 (PCA), UBASH3A (Two-hybrid), PRKAA2 (Two-hybrid), SLA2 (Reconstituted Complex), SLA2 (Reconstituted Complex), SLA2 (Reconstituted Complex), SLA2 (Reconstituted Complex), SLA2 (Reconstituted Complex), SLA2 (Reconstituted Complex), SLA2 (Reconstituted Complex), CD247 (Affinity Capture-Western), ZAP70 (Affinity Capture-Western), CBL (Affinity Capture-Western), SLA2 (Reconstituted Complex)
ESM2 similar proteins: A1A4I4, A1A5B6, A1DZY4, A4D2P6, A5D7J5, O35141, O35929, O62683, O75628, O88667, O88910, O88954, P04629, P0C7J6, P35739, P55040, P55041, P55042, P55043, P70268, Q13368, Q16512, Q3MII6, Q3UFB7, Q5E9J3, Q5EBH1, Q5R541, Q60806, Q63433, Q6IMA7, Q6IMB1, Q6P5Z2, Q7L0Q8, Q864R5, Q8IYK8, Q8K045, Q8R4L0, Q8VEL9, Q8VHP8, Q8WWW0
Diamond homologs: A0A8I3NFE2, A0JNB0, A1Y2K1, A6QLK6, B2RZ59, D7PF45, F1N9Y5, G5ECJ6, O14796, O15357, O35324, O45539, O60880, O88890, P00519, P00520, P00521, P00522, P00523, P00524, P00525, P00526, P05480, P06239, P06240, P06241, P08103, P08631, P10447, P10936, P12931, P13115, P13116, P14084, P14085, P15054, P16277, P25020, P29349, P31693
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SLA2 | “down-regulates activity” | FLT3 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 12 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 | 5 | 63.4× | 1e-06 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 5 | 48.4× | 3e-06 |
| PIP3 activates AKT signaling | 5 | 33.4× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
49 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1328 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:36613985:AGC:A | acceptor_loss | 1.0000 |
| 20:36613986:GCTG:G | acceptor_loss | 1.0000 |
| 20:36613987:C:CC | acceptor_gain | 1.0000 |
| 20:36632591:TCACC:T | donor_loss | 1.0000 |
| 20:36632592:CACCT:C | donor_loss | 1.0000 |
| 20:36632593:A:AC | donor_gain | 1.0000 |
| 20:36632594:C:CA | donor_loss | 1.0000 |
| 20:36632594:C:CC | donor_gain | 1.0000 |
| 20:36632594:CCT:C | donor_gain | 1.0000 |
| 20:36632594:CCTCT:C | donor_gain | 1.0000 |
| 20:36632695:CCAC:C | acceptor_gain | 1.0000 |
| 20:36632696:CAC:C | acceptor_gain | 1.0000 |
| 20:36632696:CACC:C | acceptor_gain | 1.0000 |
| 20:36632699:C:T | acceptor_loss | 1.0000 |
| 20:36632700:T:G | acceptor_loss | 1.0000 |
| 20:36632703:C:CT | acceptor_gain | 1.0000 |
| 20:36632708:C:CT | acceptor_gain | 1.0000 |
| 20:36632709:G:T | acceptor_gain | 1.0000 |
| 20:36633541:A:AC | donor_gain | 1.0000 |
| 20:36633542:C:CC | donor_gain | 1.0000 |
| 20:36633627:TCC:T | acceptor_gain | 1.0000 |
| 20:36633628:CC:C | acceptor_gain | 1.0000 |
| 20:36633628:CCC:C | acceptor_gain | 1.0000 |
| 20:36633629:CC:C | acceptor_gain | 1.0000 |
| 20:36633630:CTG:C | acceptor_loss | 1.0000 |
| 20:36633631:T:A | acceptor_loss | 1.0000 |
| 20:36634488:A:AC | donor_gain | 1.0000 |
| 20:36634489:C:CC | donor_gain | 1.0000 |
| 20:36634489:CT:C | donor_gain | 1.0000 |
| 20:36613843:C:A | donor_gain | 0.9900 |
AlphaMissense
1668 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:36632623:G:C | F118L | 0.997 |
| 20:36632623:G:T | F118L | 0.997 |
| 20:36632625:A:G | F118L | 0.997 |
| 20:36615308:A:G | I150T | 0.995 |
| 20:36615259:G:C | F166L | 0.993 |
| 20:36615259:G:T | F166L | 0.993 |
| 20:36615261:A:G | F166L | 0.993 |
| 20:36615356:A:T | V134D | 0.992 |
| 20:36632618:A:T | I120N | 0.992 |
| 20:36615308:A:C | I150S | 0.991 |
| 20:36632621:A:G | L119P | 0.990 |
| 20:36632667:C:G | A104P | 0.990 |
| 20:36632697:A:G | W94R | 0.990 |
| 20:36632697:A:T | W94R | 0.990 |
| 20:36615242:A:G | L172P | 0.989 |
| 20:36615308:A:T | I150N | 0.989 |
| 20:36632615:C:G | R121P | 0.989 |
| 20:36615362:A:G | L132P | 0.988 |
| 20:36614410:A:T | L187H | 0.987 |
| 20:36632624:A:G | F118S | 0.986 |
| 20:36615360:A:G | S133P | 0.984 |
| 20:36615278:A:T | I160N | 0.982 |
| 20:36615316:G:C | H147Q | 0.982 |
| 20:36615316:G:T | H147Q | 0.982 |
| 20:36615318:G:C | H147D | 0.982 |
| 20:36632657:A:G | L107P | 0.982 |
| 20:36632618:A:C | I120S | 0.980 |
| 20:36632618:A:G | I120T | 0.980 |
| 20:36632654:A:G | L108P | 0.980 |
| 20:36615260:A:G | F166S | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000035800 (20:36632176 T>C), RS1000107951 (20:36646966 T>A), RS1000234798 (20:36616039 A>G), RS1000261678 (20:36615044 C>T), RS1000295455 (20:36628700 C>T), RS1000480803 (20:36648001 C>T), RS1000718446 (20:36635047 G>A), RS1000788125 (20:36628149 C>G), RS1000795194 (20:36635277 C>G,T), RS1000811777 (20:36635259 A>G), RS1000863554 (20:36616254 A>G), RS1000888147 (20:36642206 G>C), RS1000948205 (20:36628461 A>T), RS1001140349 (20:36642362 C>A), RS1001197322 (20:36621198 C>T)
Disease associations
OMIM: gene MIM:606577 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| OTX015 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Mercuric Chloride | affects cotreatment, increases expression | 1 |
| Nickel | increases expression | 1 |
| Testosterone | increases expression, affects cotreatment | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | decreases 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.