GAB3
gene geneOn this page
Summary
GAB3 (GRB2 associated binding protein 3, HGNC:17515) is a protein-coding gene on chromosome Xq28, encoding GRB2-associated-binding protein 3 (Q8WWW8).
This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 139716 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 163 total — 1 pathogenic
- MANE Select transcript:
NM_001081573
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17515 |
| Approved symbol | GAB3 |
| Name | GRB2 associated binding protein 3 |
| Location | Xq28 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000160219 |
| Ensembl biotype | protein_coding |
| OMIM | 300482 |
| Entrez | 139716 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000369568, ENST00000369575, ENST00000424127, ENST00000454973, ENST00000475685, ENST00000496390, ENST00000872120, ENST00000872121, ENST00000872122, ENST00000872123, ENST00000943825
RefSeq mRNA: 3 — MANE Select: NM_001081573
NM_001081573, NM_001282283, NM_080612
CCDS: CCDS14760, CCDS48198, CCDS65357
Canonical transcript exons
ENST00000424127 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001096286 | 154712229 | 154712701 |
| ENSE00001450374 | 154675249 | 154678294 |
| ENSE00002097975 | 154750954 | 154751077 |
| ENSE00003491409 | 154699294 | 154699513 |
| ENSE00003493606 | 154695917 | 154696019 |
| ENSE00003528967 | 154700004 | 154700059 |
| ENSE00003533915 | 154697132 | 154697213 |
| ENSE00003559769 | 154680132 | 154680248 |
| ENSE00003560057 | 154716026 | 154716329 |
| ENSE00003659487 | 154713207 | 154713426 |
Expression profiles
Bgee: expression breadth ubiquitous, 187 present calls, max score 93.39.
FANTOM5 (CAGE): breadth broad, TPM avg 3.3954 / max 95.4385, expressed in 826 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 201056 | 3.1187 | 800 |
| 201057 | 0.1828 | 94 |
| 201058 | 0.0939 | 43 |
Top tissues by expression
243 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ventricle myocardium | UBERON:0006566 | 93.39 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 91.63 | gold quality |
| granulocyte | CL:0000094 | 90.88 | gold quality |
| apex of heart | UBERON:0002098 | 90.04 | gold quality |
| blood | UBERON:0000178 | 88.37 | gold quality |
| spleen | UBERON:0002106 | 86.75 | gold quality |
| leukocyte | CL:0000738 | 86.40 | gold quality |
| monocyte | CL:0000576 | 86.33 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.67 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 84.81 | gold quality |
| heart left ventricle | UBERON:0002084 | 84.75 | gold quality |
| cardiac ventricle | UBERON:0002082 | 84.36 | gold quality |
| myocardium | UBERON:0002349 | 84.20 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.50 | gold quality |
| heart | UBERON:0000948 | 81.95 | gold quality |
| cardiac atrium | UBERON:0002081 | 81.94 | gold quality |
| bone marrow | UBERON:0002371 | 81.86 | gold quality |
| right atrium auricular region | UBERON:0006631 | 81.73 | gold quality |
| bone marrow cell | CL:0002092 | 79.18 | gold quality |
| right lung | UBERON:0002167 | 79.14 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 78.09 | gold quality |
| vermiform appendix | UBERON:0001154 | 77.86 | gold quality |
| upper lobe of lung | UBERON:0008948 | 77.12 | gold quality |
| lymph node | UBERON:0000029 | 77.00 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 76.99 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 76.96 | gold quality |
| omental fat pad | UBERON:0010414 | 76.95 | gold quality |
| peritoneum | UBERON:0002358 | 76.89 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 76.74 | gold quality |
| right coronary artery | UBERON:0001625 | 76.06 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.40 |
| E-GEOD-100618 | no | 498.13 |
| E-MTAB-6075 | no | 315.06 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
84 targeting GAB3, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
Literature-anchored findings (GeneRIF, showing 6)
- The carboxy-terminal SH3 domain of the adapter protein Mona interacts with the atypical proline-rich domain of Gab3 to mediate late signaling of the macrophage colony-stimulating factor receptor. (PMID:11997510)
- Hematopoiesis in mice lacking Gab3 is not impaired, macrophages develop in normal numbers and exhibit normal function, and there is no major immune deficiency in T- and B-lymphocyte responses to protein antigens or during viral infection. (PMID:12640125)
- Together, our results suggest that Gab3 expression in CRC cells is important for Akt-Erk activation and cell proliferation. (PMID:28115166)
- we conclude that Gab3 overexpression in human glioma mediates Akt activation and cancer cell proliferation (PMID:28291820)
- Identification of Grb2-associated binding protein 3 expression to predict clinical outcomes and immunotherapeutic responses in lung adenocarcinoma. (PMID:35822560)
- High expression of GRB2 associated binding protein 3 mRNA predicts positive prognosis in melanoma. (PMID:36545920)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000076998 | |
| danio_rerio | si:ch73-149c21.1 | ENSDARG00000093081 |
| mus_musculus | Gab3 | ENSMUSG00000032750 |
| drosophila_melanogaster | dos | FBGN0016794 |
| caenorhabditis_elegans | WBGENE00004928 |
Paralogs (7): PHLDB1 (ENSG00000019144), GAB2 (ENSG00000033327), GAB1 (ENSG00000109458), PHLDB2 (ENSG00000144824), PLEKHS1 (ENSG00000148735), PHLDB3 (ENSG00000176531), GAB4 (ENSG00000215568)
Protein
Protein identifiers
GRB2-associated-binding protein 3 — Q8WWW8 (reviewed: Q8WWW8)
Alternative names: GRB2-associated binder 3, Growth factor receptor bound protein 2-associated protein 3
All UniProt accessions (2): Q8WWW8, H7C3J9
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Interacts with PIK3R/p85, SHP2 and GRAP2/MONA. May interact with Grb2.
Post-translational modifications. Phosphorylated on tyrosine residue(s) after macrophage colony-stimulating factor (M-CSF) receptor stimulation.
Similarity. Belongs to the GAB family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WWW8-1 | 1 | yes |
| Q8WWW8-2 | 2 | |
| Q8WWW8-3 | 3 |
RefSeq proteins (3): NP_001075042, NP_001269212, NP_542179 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001849 | PH_domain | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR046355 | Gab1-4-like | Family |
Pfam: PF00169
UniProt features (12 total): region of interest 3, splice variant 2, compositionally biased region 2, modified residue 2, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WWW8-F1 | 55.14 | 0.10 |
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): 344, 482
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9680350 | Signaling by CSF1 (M-CSF) in myeloid cells |
MSigDB gene sets: 157 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, BENPORATH_ES_WITH_H3K27ME3, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GOBP_MACROPHAGE_DIFFERENTIATION, GOMF_SIGNALING_ADAPTOR_ACTIVITY, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, chrXq28, GOBP_MONONUCLEAR_CELL_DIFFERENTIATION, RAO_BOUND_BY_SALL4_ISOFORM_A, RB_DN.V1_UP, CAHOY_OLIGODENDROCUTIC, GSE5503_MLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_UP, GSE14415_INDUCED_TREG_VS_TCONV_DN
GO Biological Process (2): signal transduction (GO:0007165), macrophage differentiation (GO:0030225)
GO Molecular Function (1): signaling adaptor activity (GO:0035591)
GO Cellular Component (1): cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Cytokine Signaling in Immune system | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| myeloid leukocyte differentiation | 1 |
| mononuclear cell differentiation | 1 |
| protein-macromolecule adaptor activity | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
484 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GAB3 | A1BG | P04217 | 821 |
| GAB3 | PTPN11 | Q06124 | 694 |
| GAB3 | GRB2 | P29354 | 682 |
| GAB3 | CSF1 | P09603 | 587 |
| GAB3 | PLEK | P08567 | 573 |
| GAB3 | PLEK2 | Q9NYT0 | 568 |
| GAB3 | CSF1R | P07333 | 519 |
| GAB3 | CRKL | P46109 | 459 |
| GAB3 | DUSP10 | Q9Y6W6 | 454 |
| GAB3 | FRS2 | Q8WU20 | 435 |
| GAB3 | AKT1 | P31749 | 433 |
| GAB3 | LYN | P07948 | 423 |
| GAB3 | CRK | P46108 | 421 |
| GAB3 | UNK | Q9C0B0 | 397 |
| GAB3 | GAB2 | Q9UQC2 | 392 |
IntAct
108 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PIK3R3 | PIK3CD | psi-mi:“MI:0914”(association) | 0.800 |
| GRB2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| GAB3 | PDZD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | SNTB1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | SNTA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | PDZK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | RHPN1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | PTPN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | ARHGAP21 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | GRID2IP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PATJ | GAB3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DLG1 | GAB3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | IL16 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SNTG1 | GAB3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | WHRN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| APBA3 | GAB3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | PALS2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | HTRA4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | MPP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | PICK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | LIN7C | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | LIN7B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAB3 | LIN7A | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (10): PTPN11 (Affinity Capture-Western), GAB3 (Affinity Capture-Western), GAB3 (Reconstituted Complex), GAB3 (Reconstituted Complex), GAB3 (Reconstituted Complex), GAB3 (Reconstituted Complex), GRB2 (Reconstituted Complex), MIPEP (Affinity Capture-MS), ABL1 (Affinity Capture-Western), LYN (Affinity Capture-Western)
ESM2 similar proteins: A5PMU4, A6QLU3, O89032, P35568, P35569, P35570, P81122, P84770, Q06649, Q13094, Q13191, Q13480, Q13625, Q1LY51, Q1LYG0, Q28224, Q3TTA7, Q4KM52, Q5NBX1, Q5RJW5, Q5TCZ1, Q60787, Q62415, Q6DFR2, Q6GQL0, Q6P4Y6, Q6ZNC4, Q80UZ0, Q8BM65, Q8BSM5, Q8C180, Q8CG79, Q8IVF5, Q8TEW8, Q8WU20, Q8WV28, Q8WWW8, Q91615, Q93073, Q96KQ4
Diamond homologs: A6QLU3, Q00IB7, Q13480, Q2WGN9, Q86SQ0, Q8BUL6, Q8K1N2, Q8WWW8, Q99PF6, Q9EQH1, Q9HB21, Q9QYY0, Q9ULM0, Q9UQC2, Q9VZZ9, Q9W5D0, Q9Z1S8, E9PXF8, O95248, P54644, Q63312, Q6NSJ2, Q6NTN5, Q6PDH0, Q6ZPE2, Q86IV4, Q86UU1, Q86WG5, Q8BSM5, B1AVY7, O35889, Q80TF6, Q96L93, Q9EQW7, Q9H1H9, Q9NQT8, Q9P2P6, Q9QZQ1, A8JQ65, B4I4Y1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 74 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 |
|---|---|---|---|
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 57.1× | 1e-06 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 54.4× | 1e-06 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 54.4× | 1e-06 |
| Assembly and cell surface presentation of NMDA receptors | 10 | 50.8× | 8e-13 |
| Dopamine Neurotransmitter Release Cycle | 5 | 49.6× | 2e-06 |
| Long-term potentiation | 5 | 47.6× | 2e-06 |
| Neurexins and neuroligins | 10 | 39.4× | 7e-12 |
| Protein-protein interactions at synapses | 6 | 31.9× | 1e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 9 | 73.7× | 1e-12 |
| receptor clustering | 7 | 61.5× | 4e-09 |
| protein localization to synapse | 5 | 53.9× | 3e-06 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 6 | 41.9× | 1e-06 |
| cell-cell adhesion | 9 | 12.9× | 3e-06 |
| protein-containing complex assembly | 6 | 9.6× | 1e-03 |
| chemical synaptic transmission | 7 | 7.6× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
163 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 816364 | GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 | Pathogenic |
SpliceAI
1858 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:154696017:CTG:C | acceptor_gain | 1.0000 |
| X:154699376:T:TA | donor_gain | 1.0000 |
| X:154716170:T:TA | donor_gain | 1.0000 |
| X:154750952:A:AC | donor_gain | 1.0000 |
| X:154750953:C:CC | donor_gain | 1.0000 |
| X:154750953:CGTAG:C | donor_gain | 1.0000 |
| X:154678291:GTTT:G | acceptor_gain | 0.9900 |
| X:154678292:TTT:T | acceptor_gain | 0.9900 |
| X:154678292:TTTC:T | acceptor_loss | 0.9900 |
| X:154678294:TC:T | acceptor_loss | 0.9900 |
| X:154678295:C:A | acceptor_loss | 0.9900 |
| X:154678295:C:CC | acceptor_gain | 0.9900 |
| X:154680128:CTA:C | donor_loss | 0.9900 |
| X:154680129:TACC:T | donor_loss | 0.9900 |
| X:154680130:A:AT | donor_loss | 0.9900 |
| X:154680131:C:T | donor_loss | 0.9900 |
| X:154680131:CCTG:C | donor_gain | 0.9900 |
| X:154680132:C:A | donor_loss | 0.9900 |
| X:154696020:C:CC | acceptor_gain | 0.9900 |
| X:154697209:CCGTG:C | acceptor_gain | 0.9900 |
| X:154697210:CGTG:C | acceptor_gain | 0.9900 |
| X:154697210:CGTGC:C | acceptor_gain | 0.9900 |
| X:154697214:C:CC | acceptor_gain | 0.9900 |
| X:154699292:A:AC | donor_gain | 0.9900 |
| X:154699293:C:CC | donor_gain | 0.9900 |
| X:154699293:CATTT:C | donor_gain | 0.9900 |
| X:154699297:T:TA | donor_gain | 0.9900 |
| X:154699511:TGG:T | acceptor_gain | 0.9900 |
| X:154699514:C:CC | acceptor_gain | 0.9900 |
| X:154700060:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
3848 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:154716309:A:C | F31L | 1.000 |
| X:154716309:A:T | F31L | 1.000 |
| X:154716310:A:G | F31S | 1.000 |
| X:154716311:A:G | F31L | 1.000 |
| X:154716326:A:G | W26R | 1.000 |
| X:154716326:A:T | W26R | 1.000 |
| X:154750984:C:A | K14N | 1.000 |
| X:154750984:C:G | K14N | 1.000 |
| X:154716080:A:G | W108R | 0.999 |
| X:154716080:A:T | W108R | 0.999 |
| X:154716112:A:G | L97P | 0.999 |
| X:154716139:A:T | V88D | 0.999 |
| X:154716145:A:G | F86S | 0.999 |
| X:154716263:A:G | Y47H | 0.999 |
| X:154716268:A:G | L45S | 0.999 |
| X:154716324:C:A | W26C | 0.999 |
| X:154716324:C:G | W26C | 0.999 |
| X:154750991:A:G | L12P | 0.999 |
| X:154716078:C:A | W108C | 0.998 |
| X:154716078:C:G | W108C | 0.998 |
| X:154716106:G:T | A99D | 0.998 |
| X:154716112:A:T | L97Q | 0.998 |
| X:154716117:G:C | F95L | 0.998 |
| X:154716117:G:T | F95L | 0.998 |
| X:154716119:A:G | F95L | 0.998 |
| X:154716304:A:G | L33P | 0.998 |
| X:154716310:A:C | F31C | 0.998 |
| X:154716314:A:G | W30R | 0.998 |
| X:154716314:A:T | W30R | 0.998 |
| X:154716317:G:T | R29S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000060258 (X:154724907 A>C), RS1000255046 (X:154747548 C>A), RS1000255455 (X:154701967 C>T), RS1000436453 (X:154691439 G>A), RS1000561373 (X:154731572 T>C), RS1000729784 (X:154740902 T>C), RS1000839568 (X:154710005 G>A,C), RS1000858353 (X:154681057 A>C), RS1000858540 (X:154680476 A>C), RS1000862070 (X:154749647 C>T), RS1000911369 (X:154730996 A>C), RS1000983675 (X:154693399 T>G), RS1001220938 (X:154715278 T>C), RS1001227841 (X:154726090 T>C), RS1001273306 (X:154715637 C>T)
Disease associations
OMIM: gene MIM:300482 | 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 |
|---|---|---|
| GCST004334_12 | Mean corpuscular hemoglobin | 2.000000e-29 |
| GCST90002389_498 | Lymphocyte percentage of white cells | 4.000000e-09 |
| GCST90002397_164 | Mean spheric corpuscular volume | 3.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0007993 | lymphocyte percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | increases expression | 2 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| butyraldehyde | increases expression | 1 |
| tobacco tar | decreases expression, decreases reaction | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| diallyl disulfide | decreases expression, decreases reaction | 1 |
| maleic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Phthalic Acids | decreases expression, decreases methylation | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Triclosan | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | increases abundance, 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.