SH3 Domain-Binding Protein 2

Alternative Names

SH3BP2

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Length

48,012 bases

No. of Exons

No. of isoforms

Protein Name

SH3 domain-binding protein 2

Molecular Mass

62244 Da

Amino Acid Count

561

Genomic Location

chr4:2,793,084-2,841,095

Gene Map Locus

4p16.3

Description

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 kinases, and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001122681.2:c.1429C>T	Lebanon	NC_000004.12:g.2832353C>T	Benign, Uncertain Significance	Uncertain Significance	Familial Mediterranean Fever	NG_011609.1:g.44331C>T; NM_001122681.2:c.1429C>T; NP_001116153.1:p.Arg477Trp	148761331	348592

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External Links

https://medlineplus.gov/genetics/gene/sh3bp2/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=sh3bp2

Contributors

Sayeeda Hana: 08.02.2021

Edit History

Sayeeda Hana: 08.02.2021