SH3 and PX Domains-Containing Protein 2B

Alternative Names

SH3PXD2B
Tyrosine Kinase Substrate With 4 SH3 Domains
TKS4
KIAA1295

Length

129,343 bases

No. of Exons

No. of isoforms

Protein Name

SH3 and PX domain-containing protein 2B

Molecular Mass

101579 Da

Amino Acid Count

911

Genomic Location

chr5:172,325,000-172,454,523

Gene Map Locus

5q35.1

Description

The SH3PXD2B gene codes for the TKS4 protein, which is an adaptor protein required for cell adhesion and migration. Mutations in this gene are known to be the cause of Frank-Ter Haar Syndrome.

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001017995.3:c.280C>G	Saudi Arabia	NC_000005.10:g.172394592G>C		Uncertain Significance	Frank-Ter Haar Syndrome	NG_027746.1:g.64932C>G; NM_001017995.3:c.280C>G; NP_001017995.1:p.Arg94Gly	773170741

Download Table

Other Reports

Syria

Iqbal et al. (2010) identified homozygous deletion of the SH3PXD2B gene in two Syrian siblings with Frabk-Ter Haar Syndrome.

External Links

https://ghr.nlm.nih.gov/gene/SH3PXD2B https://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2B

Contributors

Asha Deepthi: 16.02.2022
Pratibha Nair: 22.04.2019

Edit History

Asha Deepthi: 16.02.2022
Pratibha Nair: 22.04.2019

Back to search Result