EH Domain-Binding Protein 1

Alternative Names

EHBP1
KIAA0903

Length

372,610 bases

No. of Exons

No. of isoforms

Protein Name

EH domain-binding protein 1

Molecular Mass

140017 Da

Amino Acid Count

1231

Genomic Location

chr2:62,673,877-63,046,486

Gene Map Locus

2p15

Description

This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [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
NM_001142615.2:c.-296+16038G>A	United Arab Emirates	NC_000002.12:g.62690121G>A			Type 2 Diabetes Mellitus; Obesity	NG_016758.1:g.21271G>A; NM_001142615.2:c.-296+16038G>A; NP_001136087.1:p.?	360791

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ehbp1

Contributors

Asha Deepthi: 16.08.2021

Edit History

Pratibha Nair: 09.02.2023
Asha Deepthi: 16.08.2021

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