Sh2b Adaptor Protein 1

Alternative Names

SH2B1
SH2B, Mouse, Homolog Of
SH2B
KIAA1299

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Length

27,600 bases

No. of Exons

No. of isoforms

Protein Name

SH2B adapter protein 1

Molecular Mass

79366 Da

Amino Acid Count

756

Genomic Location

chr16:28,846,605-28,874,204

Gene Map Locus

16p11.2

Description

This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [From RefSeq]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NG_029706.2:g.32739C>T	United Arab Emirates	NC_000016.10:g.28874338C>T			Obesity	NG_029706.2:g.32739C>T	7359397
NM_001145795.1:c.1450A>G	United Arab Emirates	NC_000016.10:g.28871920A>G			Obesity	NG_029706.2:g.30321A>G; NM_001145795.1:c.1450A>G; NP_001139267.1:p.Thr484Ala	7498665

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=sh2b1

Contributors

Asha Deepthi: 02.08.2021

Edit History

Asha Deepthi: 02.08.2021