WDR35 WD repeat domain 35 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR35provided by HGNC
Official Full Name: WD repeat domain 35provided by HGNC
Primary source: HGNC:HGNC:29250
See related: Ensembl:ENSG00000118965 MIM:613602; AllianceGenome:HGNC:29250
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CED2; IFTA1; SRTD7; FAP118; IFT121; CFAP118
Summary: 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.[provided by RefSeq, Sep 2010]
Expression: Broad expression in testis (RPKM 8.4), thyroid (RPKM 5.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p24.1

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (19910263..19990105, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (19943794..20023609, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (20110024..20189866, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association study of genetic variants at TTC32-WDR35 gene cluster with coronary artery disease in Chinese Han population.
Title: Association study of genetic variants at TTC32-WDR35 gene cluster with coronary artery disease in Chinese Han population.
WDR35 is involved in subcellular localization of acetylated tubulin in 293T cells.
Title: WDR35 is involved in subcellular localization of acetylated tubulin in 293T cells.
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Title: Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.
Title: Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.
Over-expression of WDR35 results in decreased phosphorylation of ribosome S6 protein in a RagA-, RagB- and RagC-dependent manner. Thus, WDR35 is associated with RagA, RagB and RagC and might negatively influence mTORC1 activity.
Title: RagA, an mTORC1 activator, interacts with a hedgehog signaling protein, WDR35/IFT121.
Results demonstrated that copy number variation (CNV) of WDR35 may lead to skeletal dysplasia and fetal anomaly, and that down-regulated WDR35 may damage the cilia formation and sequentially indirectly regulate Gli signal, which would eventually result in negative regulation of osteogenic differentiation.
Title: Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation.
Homozygous missense mutation in WDR35 gene is associated with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia ciliopathy.
Title: Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
The observations of the Sensenbrenner syndrome patient in this study provide additional clinical data and expand the molecular spectrum of Sensenbrenner syndrome. Moreover, the two variants identified in the proband provide further evidence for the WDR35 mutations as the most common cause of this rare syndrome.
Title: Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.
A differential diagnosis of Sensenbrenner Syndrome was made after a novel homozygous missense mutation in WDR35 was identified in a patient with initial diagnosis of Jeune syndrome.
Title: Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.
Wdr35 regulates cilium assembly by selectively regulating transport of distinct cargoes.
Title: Role for the IFT-A Complex in Selective Transport to the Primary Cilium.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cranioectodermal dysplasia 2 MedGen: C3150874 OMIM: 613610 GeneReviews: Cranioectodermal Dysplasia	Compare labs
Short-rib thoracic dysplasia 7 with or without polydactyly MedGen: C3279792 OMIM: 614091 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78124 (e-PCR)
- UniSTS:59914

SHGC-61990 (e-PCR)
- UniSTS:13917

D2S1845 (e-PCR)
- UniSTS:12426

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in intraciliary retrograde transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intraciliary retrograde transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary retrograde transport	NAS Non-traceable Author Statement more info	PubMed
involved_in intraciliary transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary tip	TAS Traceable Author Statement more info
located_in cilium	NAS Non-traceable Author Statement more info	PubMed
located_in cilium	TAS Traceable Author Statement more info
part_of intraciliary transport particle A	IBA Inferred from Biological aspect of Ancestor more info
part_of intraciliary transport particle A	IDA Inferred from Direct Assay more info	PubMed
part_of intraciliary transport particle A	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: WD repeat-containing protein 35

Names: intraflagellar transport protein 121 homolog; naofen

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021212.1 RefSeqGene

Range

5019..84861

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001006657.2 → NP_001006658.1 WD repeat-containing protein 35 isoform 1

See identical proteins and their annotated locations for NP_001006658.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB037757, BC033951, BC036659, BX476609

Consensus CDS

CCDS33152.1

UniProtKB/Swiss-Prot

B3KVI5, Q4ZG01, Q8NE11, Q9P2L0

Related

ENSP00000314444.5, ENST00000345530.8

Conserved Domains (4) summary

COG2319
Location:5 → 192

WD40; WD40 repeat [General function prediction only]

pfam00637
Location:829 → 920

Clathrin; Region in Clathrin and VPS

sd00039
Location:17 → 69

7WD40; WD40 repeat [structural motif]

cl02567
Location:19 → 184

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_020779.4 → NP_065830.2 WD repeat-containing protein 35 isoform 2

See identical proteins and their annotated locations for NP_065830.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform 2 thus lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AB037757, BC033951, BC036659, BX476609

Consensus CDS

CCDS1695.1

UniProtKB/Swiss-Prot

Q9P2L0

Related

ENSP00000281405.5, ENST00000281405.9

Conserved Domains (4) summary

COG2319
Location:5 → 192

WD40; WD40 repeat [General function prediction only]

pfam00637
Location:818 → 909

Clathrin; Region in Clathrin and VPS

sd00039
Location:17 → 69

7WD40; WD40 repeat [structural motif]

cl02567
Location:19 → 184

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

19910263..19990105 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011533007.3 → XP_011531309.1 WD repeat-containing protein 35 isoform X1

Conserved Domains (1) summary

pfam00637
Location:394 → 485

Clathrin; Region in Clathrin and VPS
XM_047445199.1 → XP_047301155.1 WD repeat-containing protein 35 isoform X2