SH3BP5
gene geneOn this page
Also known as Sab
Summary
SH3BP5 (SH3 domain binding protein 5, HGNC:10827) is a protein-coding gene on chromosome 3p25.1, encoding SH3 domain-binding protein 5 (O60239). Functions as a guanine nucleotide exchange factor (GEF) with specificity for RAB11A and RAB25.
Enables guanyl-nucleotide exchange factor activity and protein kinase inhibitor activity. Acts upstream of or within intracellular signal transduction. Located in cytoplasmic vesicle membrane and nuclear body.
Source: NCBI Gene 9467 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_004844
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10827 |
| Approved symbol | SH3BP5 |
| Name | SH3 domain binding protein 5 |
| Location | 3p25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Sab |
| Ensembl gene | ENSG00000131370 |
| Ensembl biotype | protein_coding |
| OMIM | 605612 |
| Entrez | 9467 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 16 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000366391, ENST00000383791, ENST00000408919, ENST00000412806, ENST00000417936, ENST00000426925, ENST00000450625, ENST00000459627, ENST00000465894, ENST00000885923, ENST00000885924, ENST00000885925, ENST00000885926, ENST00000885927, ENST00000885928, ENST00000947042, ENST00000947043, ENST00000947044, ENST00000947045, ENST00000947046
RefSeq mRNA: 2 — MANE Select: NM_004844
NM_001018009, NM_004844
CCDS: CCDS2625, CCDS43055
Canonical transcript exons
ENST00000383791 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001239283 | 15332271 | 15332586 |
| ENSE00001577192 | 15259761 | 15259803 |
| ENSE00001588722 | 15262159 | 15262289 |
| ENSE00001589177 | 15258831 | 15259050 |
| ENSE00001902227 | 15254353 | 15256303 |
| ENSE00003478513 | 15330504 | 15330566 |
| ENSE00003520958 | 15269713 | 15269877 |
| ENSE00003562301 | 15256853 | 15257113 |
| ENSE00003669546 | 15304103 | 15304231 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 99.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.2012 / max 1249.4840, expressed in 1791 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 41260 | 38.6719 | 1791 |
| 41263 | 0.3048 | 104 |
| 41259 | 0.1249 | 73 |
| 41262 | 0.0755 | 10 |
| 41261 | 0.0240 | 5 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 99.36 | gold quality |
| endothelial cell | CL:0000115 | 98.88 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.77 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 98.74 | gold quality |
| cortical plate | UBERON:0005343 | 98.61 | gold quality |
| pericardium | UBERON:0002407 | 98.57 | gold quality |
| visceral pleura | UBERON:0002401 | 98.36 | gold quality |
| secondary oocyte | CL:0000655 | 98.28 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.28 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.26 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.25 | gold quality |
| adrenal gland | UBERON:0002369 | 98.22 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 98.10 | gold quality |
| sural nerve | UBERON:0015488 | 98.09 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.08 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.07 | gold quality |
| synovial joint | UBERON:0002217 | 98.05 | gold quality |
| pleura | UBERON:0000977 | 97.99 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.93 | gold quality |
| lower lobe of lung | UBERON:0008949 | 97.92 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.86 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 97.85 | gold quality |
| left uterine tube | UBERON:0001303 | 97.79 | gold quality |
| parietal pleura | UBERON:0002400 | 97.79 | gold quality |
| olfactory bulb | UBERON:0002264 | 97.67 | gold quality |
| left ovary | UBERON:0002119 | 97.63 | gold quality |
| urethra | UBERON:0000057 | 97.49 | gold quality |
| cranial nerve II | UBERON:0000941 | 97.45 | gold quality |
| pons | UBERON:0000988 | 97.41 | gold quality |
| mammary duct | UBERON:0001765 | 97.38 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 84.03 |
| E-MTAB-10287 | yes | 64.17 |
| E-MTAB-10553 | yes | 46.21 |
| E-HCAD-10 | yes | 36.66 |
| E-HCAD-5 | yes | 14.84 |
| E-HCAD-9 | yes | 14.37 |
| E-CURD-112 | yes | 11.04 |
| E-MTAB-6678 | yes | 6.35 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
79 targeting SH3BP5, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| 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-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-586 | 99.65 | 70.40 | 2051 |
Literature-anchored findings (GeneRIF, showing 11)
- mitochondrial protein Sab is phosphorylated by stress-activated protein kinase 3 (PMID:15158451)
- SH3BP5 binds to JNK and directly inhibits JNK through its two putative mitogen-activated protein kinase interaction motifs (KIMs). (PMID:23861391)
- The interplay of p-JNK with mitochondrial Sab leads to impaired respiration, ROS production, sustained JNK activation, and apoptosis. (PMID:25666017)
- REI/SH3BP5 protein family is conserved in evolution and is a group of new guanine nucleotide exchange factors for Rab11. (PMID:26745340)
- SH3BP5, LMO3, and SNAP25 were expressed in diffuse large B-cell lymphoma cells and associated with clinical features. (PMID:27184832)
- SH3 domain binding protein 5 (Sab) expression is reduced in ovarian cancer (OC), suggesting that Sab may be a prognostic biomarker to discern personalized treatments for OC patients. (PMID:30322886)
- Study found that expression of SH3BP5 was enhanced in acute myeloid leukemia (AML) cells and was negatively correlated with patients survival. Elevated expression of SH3BP5 was an independent prognostic factor for AML patients. Furthermore, SH3BP5-mediated activation of JNK-BAD signaling contributes to the survival of AML cells. (PMID:31546831)
- trans-Fatty acids facilitate DNA damage-induced apoptosis through the mitochondrial JNK-Sab-ROS positive feedback loop. (PMID:32066809)
- Tankyrase regulates epithelial lumen formation via suppression of Rab11 GEFs. (PMID:34128958)
- Novel blood-based hypomethylation of SH3BP5 is associated with very early-stage lung adenocarcinoma. (PMID:34783986)
- METTL3 suppresses invasion of lung cancer via SH3BP5 m6A modification. (PMID:38141906)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sh3bp5a | ENSDARG00000100529 |
| danio_rerio | sh3bp5b | ENSDARG00000103978 |
| mus_musculus | Sh3bp5 | ENSMUSG00000021892 |
| rattus_norvegicus | Mettl6 | ENSRNOG00000052391 |
| drosophila_melanogaster | pcs | FBGN0033988 |
| caenorhabditis_elegans | WBGENE00007270 | |
| caenorhabditis_elegans | WBGENE00019365 |
Paralogs (1): SH3BP5L (ENSG00000175137)
Protein
Protein identifiers
SH3 domain-binding protein 5 — O60239 (reviewed: O60239)
Alternative names: SH3 domain-binding protein that preferentially associates with BTK
All UniProt accessions (5): C9J140, C9JK30, C9JNW0, O60239, F8WDU8
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a guanine nucleotide exchange factor (GEF) with specificity for RAB11A and RAB25. Inhibits the auto- and transphosphorylation activity of BTK. Plays a negative regulatory role in BTK-related cytoplasmic signaling in B-cells. May be involved in BCR-induced apoptotic cell death.
Subunit / interactions. Interacts with BTK. Interacts with all isoforms of MAPK8, MAPK9, MAPK10 and MAPK12. Interacts with GDP-bound and nucleotide-free forms of RAB11A.
Subcellular location. Cytoplasmic vesicle membrane. Mitochondrion.
Tissue specificity. Highly expressed in testis and ovaries. It is also expressed in a variety of tissues including spleen, lymph node, thymus, bone marrow, fetal liver, colon, small intestine and prostate.
Domain organisation. The N-terminal half of the protein mediates interaction with RAB11A and functions as a guanine nucleotide exchange factor. Four long alpha-helices (interrupted by a central kink) assemble into coiled coils, giving rise to a ‘V’ shape.
Similarity. Belongs to the SH3BP5 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O60239-1 | 1 | yes |
| O60239-2 | 2 |
RefSeq proteins (2): NP_001018009, NP_004835* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007940 | SH3BP5 | Family |
Pfam: PF05276
UniProt features (36 total): compositionally biased region 7, mutagenesis site 6, helix 6, region of interest 5, modified residue 5, coiled-coil region 4, chain 1, splice variant 1, turn 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4H3B | X-RAY DIFFRACTION | 2.08 |
| 6DJL | X-RAY DIFFRACTION | 3.1 |
| 6IXE | X-RAY DIFFRACTION | 3.35 |
| 6IXF | X-RAY DIFFRACTION | 3.6 |
| 6IXV | X-RAY DIFFRACTION | 3.8 |
| 6IXG | X-RAY DIFFRACTION | 3.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60239-F1 | 72.22 | 0.47 |
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 (5): 351, 375, 376, 418, 421
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 52–54 | loss of guanine nucleotide exchange factor activity. |
| 250–251 | loss of guanine nucleotide exchange factor activity. |
| 347 | loss of phosphorylation and binding by phospho-jnk; when associated with a-349. |
| 349 | loss of phosphorylation and binding by phospho-jnk; when associated with a-347. |
| 434 | no change of phosphorylation or binding by phospho-jnk; when associated with a-436. |
| 436 | no change of phosphorylation or binding by phospho-jnk; when associated with a-434. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 336 (showing top):
PID_BCR_5PATHWAY, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, AAGCAAT_MIR137, TGCACTT_MIR519C_MIR519B_MIR519A, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, FOXO4_01, FOXO1_01, SP1_Q2_01, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, CHEOK_RESPONSE_TO_MERCAPTOPURINE_DN, DELYS_THYROID_CANCER_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, AACTTT_UNKNOWN, LEF1_Q6, DOUGLAS_BMI1_TARGETS_UP
GO Biological Process (2): signal transduction (GO:0007165), intracellular signal transduction (GO:0035556)
GO Molecular Function (4): protein kinase inhibitor activity (GO:0004860), guanyl-nucleotide exchange factor activity (GO:0005085), SH3 domain binding (GO:0017124), protein binding (GO:0005515)
GO Cellular Component (7): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), nuclear body (GO:0016604), cytoplasmic vesicle membrane (GO:0030659), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| intracellular anatomical structure | 2 |
| cytoplasm | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| signal transduction | 1 |
| protein kinase activity | 1 |
| kinase inhibitor activity | 1 |
| protein kinase regulator activity | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| protein domain specific binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular membrane-bounded organelle | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
826 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SH3BP5 | USP10 | Q14694 | 926 |
| SH3BP5 | G3BP1 | Q13283 | 885 |
| SH3BP5 | BTK | Q06187 | 858 |
| SH3BP5 | ATP2B4 | P23634 | 639 |
| SH3BP5 | DHPS | P49366 | 637 |
| SH3BP5 | SH3BP2 | P78314 | 622 |
| SH3BP5 | RAB11A | P24410 | 580 |
| SH3BP5 | SRC | P12931 | 553 |
| SH3BP5 | MAPK8 | P45983 | 521 |
| SH3BP5 | USP1 | O94782 | 491 |
| SH3BP5 | SPAG9 | O60271 | 478 |
| SH3BP5 | TRAPPC10 | P48553 | 457 |
| SH3BP5 | EFNA5 | P52803 | 447 |
| SH3BP5 | SH3BP4 | Q9P0V3 | 447 |
| SH3BP5 | TRAPPC11 | Q7Z392 | 445 |
IntAct
41 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RAB11B | SH3BP5 | psi-mi:“MI:0914”(association) | 0.640 |
| SH3BP5 | NAP1L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH3BP5 | IFT20 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAB11A | SH3BP5 | psi-mi:“MI:0914”(association) | 0.530 |
| BTK | SH3BP5 | psi-mi:“MI:0915”(physical association) | 0.520 |
| SH3BP5 | BTK | psi-mi:“MI:0915”(physical association) | 0.520 |
| Tnks | SDC2 | psi-mi:“MI:0914”(association) | 0.350 |
| LIMA1 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| ALB | SH3BP5 | psi-mi:“MI:0914”(association) | 0.350 |
| SH3BP5 | DISC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SH3BP5 | EXOC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SOS1 | SH3BP5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TNKS | SH3BP5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SH3BP5 | HPS5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SH3BP5 | SYNE2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SH3BP5 | SYNE1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SH3BP5 | MAN1A1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SH3BP5 | ING4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SH3BP5 | SOS1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SH3BP5 | DST | psi-mi:“MI:0915”(physical association) | 0.000 |
| SH3BP5 | SPTBN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (44): SH3BP5 (Affinity Capture-RNA), SH3BP5 (Affinity Capture-RNA), SH3BP5 (Affinity Capture-MS), SH3BP5 (Affinity Capture-MS), SH3BP5 (Affinity Capture-MS), SH3BP5 (Affinity Capture-MS), SH3BP5 (Affinity Capture-MS), SH3BP5 (Affinity Capture-MS), SH3BP5 (Two-hybrid), NAP1L2 (Two-hybrid), MAPK8 (Reconstituted Complex), SH3BP5 (Two-hybrid), SH3BP5 (Biochemical Activity), MAPK9 (Reconstituted Complex), MAPK10 (Reconstituted Complex)
ESM2 similar proteins: A0PJT0, A1YB07, A2A6T1, A4IH82, B1A193, D3ZD05, O14526, O60239, O75145, O75335, O94876, P60469, P84903, Q0V8K7, Q13136, Q1LU99, Q1LZH7, Q2QL82, Q2QLG9, Q3TBD2, Q495M9, Q58CP9, Q5R9X9, Q5RB40, Q5U4W1, Q5U584, Q63ZY3, Q69ZZ6, Q6AYB8, Q6DIS8, Q6NZT2, Q6P402, Q7L8J4, Q80T11, Q86YS3, Q8BIJ7, Q8BQP8, Q8BX02, Q8CJ96, Q91Y80
Diamond homologs: A4IH82, O60239, Q0V8K7, Q21194, Q5R9X9, Q5U584, Q7L8J4, Q91Y80, Q99LH9, Q9V785, Q9Z131, P42171
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAPK12 | unknown | SH3BP5 | phosphorylation |
| MAPK9 | unknown | SH3BP5 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2086 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:15256848:CTCA:C | donor_loss | 1.0000 |
| 3:15256849:TCA:T | donor_loss | 1.0000 |
| 3:15256850:CACC:C | donor_loss | 1.0000 |
| 3:15256851:A:AC | donor_gain | 1.0000 |
| 3:15256851:AC:A | donor_gain | 1.0000 |
| 3:15256851:ACC:A | donor_loss | 1.0000 |
| 3:15256851:ACCT:A | donor_gain | 1.0000 |
| 3:15256852:C:CC | donor_gain | 1.0000 |
| 3:15256852:CC:C | donor_gain | 1.0000 |
| 3:15256852:CCT:C | donor_gain | 1.0000 |
| 3:15256852:CCTC:C | donor_gain | 1.0000 |
| 3:15257109:GGCCA:G | acceptor_gain | 1.0000 |
| 3:15257110:GCCA:G | acceptor_gain | 1.0000 |
| 3:15257111:CCA:C | acceptor_gain | 1.0000 |
| 3:15257111:CCAC:C | acceptor_gain | 1.0000 |
| 3:15257112:CA:C | acceptor_gain | 1.0000 |
| 3:15257112:CAC:C | acceptor_gain | 1.0000 |
| 3:15257113:AC:A | acceptor_loss | 1.0000 |
| 3:15257114:C:CC | acceptor_gain | 1.0000 |
| 3:15257115:T:G | acceptor_loss | 1.0000 |
| 3:15257119:T:TC | acceptor_gain | 1.0000 |
| 3:15258826:CTTA:C | donor_loss | 1.0000 |
| 3:15258827:TTACC:T | donor_loss | 1.0000 |
| 3:15258828:TA:T | donor_loss | 1.0000 |
| 3:15258829:A:AC | donor_gain | 1.0000 |
| 3:15258829:AC:A | donor_gain | 1.0000 |
| 3:15258830:C:CA | donor_gain | 1.0000 |
| 3:15258830:CC:C | donor_gain | 1.0000 |
| 3:15258830:CCAG:C | donor_gain | 1.0000 |
| 3:15258830:CCAGA:C | donor_gain | 1.0000 |
AlphaMissense
3003 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:15258971:A:G | L250P | 1.000 |
| 3:15258971:A:T | L250Q | 1.000 |
| 3:15258980:A:G | L247P | 1.000 |
| 3:15259799:A:C | Y211D | 1.000 |
| 3:15262280:C:G | A169P | 1.000 |
| 3:15269724:C:G | A162P | 1.000 |
| 3:15269728:A:C | N160K | 1.000 |
| 3:15269728:A:T | N160K | 1.000 |
| 3:15269732:A:G | L159P | 1.000 |
| 3:15269745:A:G | W155R | 1.000 |
| 3:15269745:A:T | W155R | 1.000 |
| 3:15269792:G:T | A139D | 1.000 |
| 3:15269795:A:G | L138P | 1.000 |
| 3:15269813:G:T | A132D | 1.000 |
| 3:15269814:C:G | A132P | 1.000 |
| 3:15269822:A:G | L129P | 1.000 |
| 3:15269835:C:G | A125P | 1.000 |
| 3:15269865:C:G | A115P | 1.000 |
| 3:15304123:C:G | A104P | 1.000 |
| 3:15304132:A:C | Y101D | 1.000 |
| 3:15304195:C:G | A80P | 1.000 |
| 3:15330508:A:G | L66P | 1.000 |
| 3:15330550:A:G | L52S | 1.000 |
| 3:15330559:A:G | L49P | 1.000 |
| 3:15330559:A:T | L49Q | 1.000 |
| 3:15258948:G:C | H258D | 0.999 |
| 3:15258960:A:G | S254P | 0.999 |
| 3:15258962:A:C | I253S | 0.999 |
| 3:15258993:A:C | Y243D | 0.999 |
| 3:15258993:A:G | Y243H | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000062355 (3:15336473 AGGAGATCCATTAGCCTGAT>A), RS1000105699 (3:15305798 G>T), RS1000140124 (3:15260004 A>C,G), RS1000174705 (3:15304504 G>T), RS1000175717 (3:15257496 C>G), RS1000214358 (3:15332962 A>G), RS1000215422 (3:15294378 G>A,C), RS1000290638 (3:15281026 C>A), RS1000308914 (3:15305534 A>G), RS1000383704 (3:15270374 T>A,C), RS1000390618 (3:15301753 C>T), RS1000401067 (3:15275758 C>T), RS1000405294 (3:15335658 C>A), RS1000436700 (3:15341943 G>A,T), RS1000481563 (3:15288395 T>A,C)
Disease associations
OMIM: gene MIM:605612 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001254_1 | Alcohol dependence | 3.000000e-06 |
| GCST001471_3 | Alcohol and nicotine co-dependence | 4.000000e-07 |
| GCST002579_22 | Heschl’s gyrus morphology | 1.000000e-06 |
| GCST004639_2 | Prudent dietary pattern | 1.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008111 | diet measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 5 |
| Acetaminophen | decreases expression, increases expression | 4 |
| diethyl maleate | increases expression, affects expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Tretinoin | increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, increases expression | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| methylselenic acid | affects expression | 1 |
| ascorbate-2-phosphate | affects binding, affects cotreatment, increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid | affects cotreatment, increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| nickel acetate | affects expression | 1 |
| bardoxolone methyl | affects expression | 1 |
| Chir 99021 | affects cotreatment, increases expression, affects binding, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| XAV939 | increases expression, decreases expression, affects binding, affects cotreatment | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 3-(4-pyridyl)-1H-indole | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Ascorbic Acid | decreases expression, affects binding, affects cotreatment | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TK94 | HAP1 SH3BP5 (-) 1 | Cancer cell line | Male |
| CVCL_XS74 | HAP1 SH3BP5 (-) 2 | Cancer cell line | Male |
| CVCL_XS75 | HAP1 SH3BP5 (-) 3 | Cancer cell line | Male |
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): alcohol and nicotine codependence, alcohol dependence