Clarin 2

Alternative Names

  • CLRN2
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OMIM Number

618988

NCBI Gene ID

645104

Uniprot ID

A0PK11

Length

11,940 bases

No. of Exons

3

Protein Name

Clarin-2

Molecular Mass

25446 Da

Amino Acid Count

232

Genomic Location

chr4:17,515,164-17,527,103

Gene Map Locus
4p15.32

Description

This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001079827.2:c.494C>AUnited Arab EmiratesNC_000004.12:g.17526877C>APathogenicDeafness, Autosomal Recessive 117NM_001079827.2:c.494C>A; NP_001073296.1:p.Thr165Lys1711990645996040
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