SH3BP2 (SH3 domain binding protein 2)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6452 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
SH3 domain binding protein 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SH3BP2 |
SynonymsGene synonyms aliases
|
3BP-2, 3BP2, CRBM, CRPM, RES4-23 |
ChromosomeChromosome number
|
4 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
4p16.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinas |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs28938170 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
rs28938171 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs121909146 |
C>A,G,T |
Pathogenic |
Missense variant, coding sequence variant |
rs121909149 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
rs141518457 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs144577122 |
C>A,G,T |
Benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs150572069 |
A>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs200156713 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs757336022 |
C>A,G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
PARP1 |
Unknown |
22820184 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P78314 |
Protein name |
SH3 domain-binding protein 2 (3BP-2) |
Protein function |
Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism. |
PDB |
2CR4
,
3TWR
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00169 |
PH |
27 → 130 |
PH domain |
Domain |
PF00017 |
SH2 |
458 → 538 |
SH2 domain |
Domain |
|
Sequence |
|
Sequence length |
561 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Autoinflammatory disease |
Autoinflammatory disorder |
rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924 |
29669173 |
Multiple sclerosis |
Multiple Sclerosis |
rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 |
24076602 |
Oligodontia |
Oligodontia |
rs1591901585 |
|
Optic atrophy |
Optic Atrophy |
rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Atrophy |
Linear atrophy |
|
|
Cervical lymphadenopathy |
Cervical lymphadenopathy |
|
|
Cherubism |
Cherubism |
|
12900899, 11381256, 29669173, 14577811 |
Huntington disease |
Huntington Disease |
rs768047421 |
22387017 |
Hypodontia |
Hypodontia |
|
|
Proptosis |
Exophthalmos |
|
|
Sleep apnea |
Sleep Apnea, Obstructive |
|
|
|
|
|