WD Repeat-Containing Protein 35

Alternative Names

  • WDR35
  • Naofen
  • Intraflagellar Transport 121, Chlamydomonas, Homolog Of
  • IFT121
  • KIAA1336
Back to search Result
OMIM Number

613602

NCBI Gene ID

57539

Uniprot ID

Q9P2L0

Length

79,846 bases

No. of Exons

29

No. of isoforms

2

Protein Name

WD repeat-containing protein 35

Molecular Mass

133547 Da

Amino Acid Count

1181

Genomic Location

chr2:19,910,259-19,990,104

Gene Map Locus
2p24.1

Description

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020779.4:c.1470+359A>GUnited Arab EmiratesNC_000002.12:g.19951056T>CAssociationType 2 Diabetes Mellitus; ObesityNG_021212.1:g.44068A>G; NM_020779.4:c.1470+359A>G; NP_065830.2:p.?2028208
NM_020779.4:c.206G>ASaudi ArabiaNC_000002.12:g.19982471C>TLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicCranioectodermal Dysplasia 2; Short-Rib Thoracic Dysplasia 7 with or without PolydactylyNG_021212.1:g.12653G>A; NM_020779.4:c.206G>A; NP_065830.2:p.Gly69Asp765513105431796
© CAGS 2024. All rights reserved.