WD Repeat-Containing Protein 19

Alternative Names

  • WDR19
  • IFT144
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OMIM Number

608151

NCBI Gene ID

57728

Uniprot ID

Q8NEZ3

Length

103,338 bases

No. of Exons

38

No. of isoforms

2

Protein Name

WD repeat-containing protein 19

Molecular Mass

151581 Da

Amino Acid Count

1342

Genomic Location

chr4:39,182,472-39,285,809

Gene Map Locus
4p14

Description

The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_025132.4:c.1434C>GSaudi ArabiaNC_000004.12:g.39218060C>GLikely PathogenicLikely PathogenicCranioectodermal Dysplasia 4NG_031813.1:g.40657C>G; NM_025132.4:c.1434C>G; NP_079408.3:p.Ile478Met886039814266105
NM_025132.4:c.2585T>CSaudi ArabiaNC_000004.12:g.39244492T>CLikely PathogenicCranioectodermal Dysplasia 4NG_031813.1:g.67089T>C; NM_025132.4:c.2585T>C; NP_079408.3:p.Leu862Pro1414268971
NM_025132.4:c.2777G>TSaudi ArabiaNC_000004.12:g.39253193G>TLikely PathogenicLikely PathogenicRetinitis Pigmentosa; Cranioectodermal Dysplasia 4NG_031813.1:g.75790G>T; NM_025132.4:c.2777G>T; NP_079408.3:p.Ser926Ile751386429191190
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