Caspase Recruitment Domain-Containing Protein 14

Alternative Names

CARD14
CARD-MAGUK Protein 2
CARMA2
BCL10-Interacting MAGUK Protein 2
BIMP2

Back to search Result

Length

39,340 bases

No. of Exons

No. of isoforms

Protein Name

Caspase recruitment domain-containing protein 14

Molecular Mass

113270 Da

Amino Acid Count

1004

Genomic Location

chr17:80,169,991-80,209,330

Gene Map Locus

17q25.3

Description

This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. [From RefSeq]

Epidemiology in the Arab World

View Map

Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001366385.1:c.1789C>T	Lebanon	NC_000017.11:g.80198529C>T	Benign	Uncertain Significance	Familial Mediterranean Fever	NG_032778.1:g.33538C>T; NM_001366385.1:c.1789C>T; NP_077015.2:p.Arg597Trp	73429414	458090
NM_024110.4:c.239G>A	Lebanon	NC_000017.11:g.80182680G>A	Uncertain Significance	Uncertain Significance		NG_032778.1:g.17689G>A; NM_024110.4:c.239G>A; NP_077015.2:p.Arg80Gln	1598636867	1516066

Download Table

External Links

https://medlineplus.gov/genetics/gene/card14/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=card14

Contributors

Sayeeda Hana: 08.02.2021

Edit History

Sayeeda Hana: 08.02.2021