WDR35 - WD repeat domain 35 Gene

Also Known as CED2; IFTA1; SRTD7; FAP118; IFT121; CFAP118

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57539

About WDR35

Cytogenetic location: 2p24.1 Genomic coordinates (GRCh38): 2:19,910,263-19,990,105 (from NCBI)

This gene has 6 transcripts (splice variants), 209 orthologues, 5 paralogues and is associated with 6 phenotypes. Broad expression in testis (RPKM 8.4), thyroid (RPKM 5.2) and 24 other tissues.

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]

WDR35 Products (2)

mRNA Protein Name
NM_001006657.2 NP_001006658.1 WD repeat-containing protein 35 isoform 1
NM_020779.4 NP_065830.2 WD repeat-containing protein 35 isoform 2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
27932497 GOA
Biological Process GO Annotation Evidence References Source
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
21473986 GOA
acts upstream of or within intraciliary retrograde transport IMP
IMP: Inferred from mutant phenotype
20889716 GOA
involved in intraciliary transport IMP
IMP: Inferred from mutant phenotype
29220510 GOA
involved in protein localization to cilium IMP
IMP: Inferred from mutant phenotype
29220510 GOA
Cellular Component GO Annotation Evidence References Source
part of intraciliary transport particle A IDA
IDA: Inferred from direct assay
20889716 GOA
part of intraciliary transport particle A IPI
IPI: Inferred from physical interaction
27173435 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WDR35 Protein Structure

WD40

WD40: WD domain, G-beta repeat (65 - 98)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1181 a.a.
Protein Preferred Names Protein Names

WD repeat-containing protein 35

  • intraflagellar transport protein 121 homolog

WDR35 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
WDR35 Q9P2L0 IFT43 Homo sapiens Q96FT9 27932497
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
  • SRTD7

  • Srps5

  • Short Rib-Polydactyly Syndrome Type V

  • Short-Rib Thoracic Dysplasia 7/20 With Polydactyly, Digenic

  • Short Rib-Polydactyly Syndrome, Type V

  • Short Rib-Polydactyly Syndrome Type 5

  • Srps Type V

  • SRTD7/20

  • Short-Rib Thoracic Dysplasia 7 Without Polydactyly

Cranioectodermal Dysplasia 2
  • CED2

  • Sensenbrenner Syndrome 2

  • Dysplasia, Cranioectodermal, Type 2

Cranioectodermal Dysplasia
  • Sensenbrenner Syndrome

  • Levin Syndrome 1

  • Ced

  • Levin Syndrome

  • Dysplasia, Cranioectodermal

Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
  • Asphyxiating Thoracic Dystrophy 3

  • Saldino-Noonan Syndrome

  • SRTD3

  • Atd3

  • Srps1

  • Srps3

  • Verma-Naumoff Syndrome

  • Srps2b

  • Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

  • Short Rib-Polydactyly Syndrome, Type I

  • Polydactyly With Neonatal Chondrodystrophy, Type I

  • Polydactyly With Neonatal Chondrodystrophy, Type Iii

  • Short Rib-Polydactyly Syndrome, Type Iib

  • Short Rib-Polydactyly Syndrome Type 3

  • Polydactyly With Neonatal Chondrodystrophy Type Iii

  • Short Rib-Polydactyly Syndrome Type Iii

  • Short Rib-Polydactyly Syndrome Type 1

  • Short Rib-Polydactyly Syndrome, Saldino-Noonan Type

  • Majewski Syndrome

  • Short Rib-Polydactyly Syndrome, Type Iii

  • Type I Short Rib Polydactyly Syndrome

  • Srps Type 3

  • Short Rib Polydactyly Syndrome Verma Naumoff Type

  • Verma Naumoff Syndrome

  • Polydactyly With Neonatal Chondrodystrophy Type 1

  • Srps Type 1

  • Short Rib-Polydactyly Syndrome Saldino-Noonan Type

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Jeune Syndrome 3

  • Polydactyly With Neonatal Chondrodystrophy Type I

  • Short Rib-Polydactyly Syndrome Type I

  • Short Rib-Polydactyly Syndrome Type Iib

  • Srps Type Iib

  • Srps Type Iii

Asphyxiating Thoracic Dystrophy
  • Jeune Thoracic Dystrophy

  • Jeune Syndrome

  • Asphyxiating Thoracic Dysplasia

  • Short-Rib Thoracic Dysplasia With Or Without Polydactyly

  • Thoracic Pelvic Phalangeal Dystrophy

  • Asphyxiating Thoracic Chondrodystrophy

  • Atd

  • Chondroectodermal Dysplasia-Like Syndrome

  • Infantile Thoracic Dystrophy

  • Jeune Thoracic Dysplasia

  • Thoracic Asphyxiant Dystrophy

  • Thoracic-Pelvic-Phalangeal Dystrophy

  • Short-Rib Thoracic Dysplasia Without Polydactyly

  • Asphyxiating Thoracic Dystrophy Of The Newborn

  • Asphyxiating Thorax Dystrophy

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
  • Asphyxiating Thoracic Dystrophy 1

  • Jeune Syndrome

  • SRTD1

  • Atd1

  • Asphyxiating Thoracic Dystrophy Of The Newborn

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Thoracic-Pelvic-Phalangeal Dystrophy

  • Atd

  • Asphyxiating Thoracic Dystrophy

  • Chondroectodermal Dysplasia-Like Syndrome

  • Infantile Thoracic Dystrophy

  • Jeune'S Syndrome

  • Thoracic Pelvic Phalangeal Dystrophy

  • Jeune Thoracic Dystrophy

Short Rib-Polydactyly Syndrome
Cranioectodermal Dysplasia 1
  • Sensenbrenner Syndrome

  • CED1

  • Levin Syndrome I

  • Cranio-Ectodermal Dysplasia

  • Dysplasia, Cranioectodermal, Type 1

  • Cranioectodermal Dysplasia

Ellis-Van Creveld Syndrome
  • Chondroectodermal Dysplasia

  • Mesoectodermal Dysplasia

  • EVC

  • Ellis Van Creveld Syndrome

  • Mesodermic Dysplasia

  • Ellis-Van Creveld Dysplasia

Polydactyly
  • Non-Syndromic Polydactyly

  • Polydactyly, Postaxial

  • Postaxial Polydactyly

  • Supernumerary Digit

  • Extra Digits

  • Hyperdactyly

  • Polydactylia

  • Polydactylism

  • Supernumerary Digits

Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
  • Asphyxiating Thoracic Dystrophy 4

  • SRTD4

  • Atd4

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Jeune Syndrome 4

Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
  • Conorenal Syndrome

  • Saldino-Mainzer Syndrome

  • SRTD9

  • Mainzer-Saldino Syndrome

  • Mzsds

  • Mainzer-Saldino Disease

  • Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia

  • Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dysplasia

  • Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dy

  • Mainzer Saldino Syndrome

  • Conorenal Dysplasia

  • Mainzer-Saldino Chondrodysplasia

  • Saldino-Mainzer Dysplasia

  • Short-Rib Thoracic Dysplasia 9

  • Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome

  • Mss

  • Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia And Skeletal Dysplasia

Weyers Acrofacial Dysostosis
  • Curry-Hall Syndrome

  • Weyers Acrodental Dysostosis

  • WAD

  • Acrodental Dysostosis Of Weyers

  • Acrofacial Dysostosis, Weyers Type

  • Acrofacial Dysostosis Of Weyers

  • Curry Hall Syndrome

Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
  • Asphyxiating Thoracic Dystrophy 5

  • SRTD5

  • Atd5

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Jeune Syndrome 5

Telecanthus
Short-Rib Thoracic Dysplasia 12
  • Beemer-Langer Syndrome

  • Type Iv Short Rib Polydactyly Syndrome

  • Short Rib-Polydactyly Syndrome Type 4

  • Short Rib-Polydactyly Syndrome, Beemer Type

  • SRTD12

  • Short Rib-Polydactyly Syndrome, Type Iv

  • Srps4

  • Srps Iv

  • Short Rib Syndrome, Beemer Type

  • Beemer Langer Syndrome

  • Srps Type 4

  • Short Rib Polydactyly Syndrome Beemer-Langer Type

  • Short Rib-Polydactyly Syndrome Beemer Type

  • Short Rib-Polydactyly Syndrome Type Iv

  • Short Rib-Polydactyly Syndrome, Beemer-Langer Type

Cleft Lip/Palate
  • Cleft Lip And Palate

  • Alveolar Cleft Lip And Palate

  • Cleft Lip-Alveolus-Palate Syndrome

  • Flp

Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
  • Majewski Syndrome

  • SRTD6

  • Srps2a

  • Short Rib-Polydactyly Syndrome, Majewski Type

  • Polydactyly With Neonatal Chondrodystrophy, Type Ii

  • Short Rib-Polydactyly Syndrome Type Iia

  • Short Rib-Polydactyly Syndrome Type 2

  • Short Rib-Polydactyly Syndrome Type Ii

  • Short Rib-Polydactyly Syndrome, Type Ii

  • Srps, Type Ii

  • Short Rib-Polydactyly Syndrome, Type Iia

  • Polydactyly With Neonatal Chondrodystrophy Type 2

  • Srps Type 2

  • Short Rib-Polydactyly Syndrome Majewski Type

  • Polydactyly With Neonatal Chondrodystrophy Type Ii

  • Short Rib-Polydactyly Syndrome 2a

  • Srps Type Ii

Brachydactyly
Joubert Syndrome 17
  • JBTS17

  • Joubert Syndrome, Type 17

Hydrolethalus Syndrome 1
  • Hydrolethalus Syndrome

  • HLS1

  • Salonen-Herva-Norio Syndrome

  • Hls

  • Hydrolethalus

  • Hydrolethalus Syndrome, Type 1

Craniosynostosis
  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Chromosome 2q35 Duplication Syndrome
  • Syndactyly

  • Syndactyly Type 1

  • Sdty1

  • Zygodactyly

  • Syndactyly, Type I

  • Sd1

  • Syndactyly, Type 1, With Or Without Craniosynostosis

  • Symphalangism

  • Non-Syndromic Syndactyly

  • Symphalangy

  • Webbing Of Digits

  • Syndactyly, Type 1

Acrofacial Dysostosis
Nephronophthisis
  • Medullary Cystic Disease

  • Medullary Cystic Kidney

  • Nph

  • Nphp

  • Kidney Disease, Cystic, Medullary

Tooth Agenesis
  • Oligodontia

  • Hypodontia

  • Selective Tooth Agenesis

  • Tooth Agenesis, Selective

  • Familial Tooth Agenesis

  • Anodontia

  • Congenital Absence Of One Tooth

Meckel Syndrome, Type 1
  • Meckel-Gruber Syndrome

  • Meckel Syndrome

  • Dysencephalia Splanchnocystica

  • Meckel Syndrome 1

  • MKS1

  • Mks

  • Gruber Syndrome

  • Meckel-Gruber Syndrome, Type 1

  • Mes

  • Dysencephalia Splachnocystica

  • Meckel Gruber Syndrome

  • Meckel Syndrome Type 1

Visceral Heterotaxy
  • Situs Ambiguus

  • Heterotaxia

  • Heterotaxy Syndrome

  • Heterotaxy

  • Lateralization Defect

  • Situs Ambiguous

  • Left Isomerism

  • Htx

  • Ivemark Syndrome

  • Right Isomerism

  • Situs Ambiguus Viscerum

  • Incomplete Situs Inversus

  • Partial Situs Inversus

  • Heterotaxy, Visceral

  • Asplenia Syndrome

  • Bilateral Left-Sidedness

  • Polysplenia Syndrome

  • Moller Syndrome

Primary Ciliary Dyskinesia
  • Immotile Cilia Syndrome

  • Kartagener Syndrome

  • Dextrocardia Bronchiectasis And Sinusitis

  • Pcd

  • Ciliary Motility Disorders

  • Ciliary Motility Disorder

  • Immotile Ciliary Syndrome

  • Ciliary Dyskinesia Primary

  • Ics

  • Polynesian Bronchiectasis

  • Dextrocardia-Bronchiectasis-Sinusitis Syndrome

  • Immotile Cilia Syndrome, Kartagener Type

  • Primary Ciliary Dyskinesia And Situs Inversus

  • Primary Ciliary Dyskinesia, Kartagener Type

  • Siewert Syndrome

  • Dyskinesia, Ciliary, Primary

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta WDR35 VGNC VGNC:79792
Bos taurus WDR35 VGNC VGNC:107024
Felis catus WDR35 VGNC VGNC:67028
Rattus norvegicus WDR35 RGD RGD:1564116
Canis familiaris WDR35 VGNC VGNC:48362
Mus musculus WDR35 MGD MGI:1921932
Others WDR35 NCBI