Gene Gene information from NCBI Gene database.
Entrez ID 57539
Gene name WD repeat domain 35
Gene symbol WDR35
Synonyms (NCBI Gene)
CED2CFAP118FAP118IFT121IFTA1SRTD7
Chromosome 2
Chromosome location 2p24.1
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 com
SNPs SNP information provided by dbSNP.
43
SNP ID Visualize variation Clinical significance Consequence
rs74470618 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Downstream transcript variant, missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs75602337 T>C Uncertain-significance, conflicting-interpretations-of-pathogenicity Intron variant, genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs140308808 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs142103808 G>A Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, intron variant
rs143343508 T>A Conflicting-interpretations-of-pathogenicity, uncertain-significance 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
103
miRTarBase ID miRNA Experiments Reference
MIRT695767 hsa-miR-3121-3p HITS-CLIP 23313552
MIRT695766 hsa-miR-141-5p HITS-CLIP 23313552
MIRT695765 hsa-miR-4528 HITS-CLIP 23313552
MIRT695764 hsa-miR-3130-3p HITS-CLIP 23313552
MIRT695763 hsa-miR-4793-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27932497, 29220510, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IEA
GO:0005813 Component Centrosome ISS
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613602 29250 ENSG00000118965
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P2L0
Protein name WD repeat-containing protein 35 (Intraflagellar transport protein 121 homolog)
Protein function As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking (PubMed:21473986, PubMed
PDB 8BBE , 8BBG , 8FGW , 8FH3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12894 ANAPC4_WD40 121 214 Anaphase-promoting complex subunit 4 WD40 domain Repeat
Sequence
MFFYLSKKISIPNNVKLQCVSWNKEQGFIACGGEDGLLKVLKLETQTDDAKLRGLAAPSN
LSMNQTLEGHSGSVQVVTWNEQYQKLTTSDENGLIIVWMLYKGSWIEEMINNRNKSVVRS
MSWNADGQKICIVYEDGAVIVGSVDGNRIWGKDLKGIQLSHVTWSADSKVLLFGMANGEI
HIYDNQGNFMIKMKLSCLVNVTGAISIAGIHWYH
GTEGYVEPDCPCLAVCFDNGRCQIMR
HENDQNPVLIDTGMYVVGIQWNHMGSVLAVAGFQKAAMQDKDVNIVQFYTPFGEHLGTLK
VPGKEISALSWEGGGLKIALAVDSFIYFANIRPNYKWGYCSNTVVYAYTRPDRPEYCVVF
WDTKNNEKYVKYVKGLISITTCGDFCILATKADENHPQEENEMETFGATFVLVLCNSIGT
PLDPKYIDIVPLFVAMTKTHVIAASKEAFYTWQYRVAKKLTALEINQITRSRKEGRERIY
HVDDTPSGSMDGVLDYSKTIQGTRDPICAITASDKILIVGRESGTIQRYSLPNVGLIQKY
SLNCRAYQLSLNCNSSRLAIIDISGVLTFFDLDARVTDSTGQQVVGELLKLERRDVWDMK
WAKDNPDLFAMMEKTRMYVFRNLDPEEPIQTSGYICNFEDLEIKSVLLDEILKDPEHPNK
DYLINFEIRSLRDSRALIEKVGIKDASQFIEDNPHPRLWRLLAEAALQKLDLYTAEQAFV
RCKDYQGIKFVKRLGKLLSESMKQAEVVGYFGRFEEAERTYLEMDRRDLAIGLRLKLGDW
FRVLQLLKTGSGDADDSLLEQANNAIGDYFADRQKWLNAVQYYVQGRNQERLAECYYMLE
DYEGLENLAISLPENHKLLPEIAQMFVRVGMCEQAVTAFLKCSQPKAAVDTCVHLNQWNK
AVELAKNHSMKEIGSLLARYASHLLEKNKTLDAIELYRKANYFFDAAKLMFKIADEEAKK
GSKPLRVKKLYVLSALLIEQYHEQMKNAQRGKVKGKSSEATSALAGLLEEEVLSTTDRFT
DNAWRGAEAYHFFILAQRQLYEGCVDTALKTALHLKDYEDIIPPVEIYSLLALCACASRA
FGTCSKAFIKLKSLETLSSEQKQQYEDLALEIFTKHTSKDNRKPELDSLMEGGEGKLPTC
VATGSPITEYQFWMCSVCKHGVLAQEISHYSFCPLCHSPVG
Sequence length 1181
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Hedgehog 'off' state
Intraflagellar transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1179
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cranioectodermal dysplasia Likely pathogenic; Pathogenic rs199952377 RCV000826131
Cranioectodermal dysplasia 2 Likely pathogenic; Pathogenic rs772534528, rs2103399754, rs367810877, rs778613849, rs2103406171, rs143550695, rs867715686, rs766096320, rs767788330, rs371669862, rs397515534, rs267607174, rs397515334, rs267607175, rs2527956878
View all (24 more)
RCV005023256
RCV001384852
RCV001389261
RCV005030715
RCV001865064
RCV002034331
RCV001947629
RCV001874542
RCV001972131
RCV001975584
RCV000000037
RCV000000038
RCV000000039
RCV000000040
RCV003052838
RCV002775068
RCV002942392
RCV000797932
RCV002518074
RCV005216084
RCV003797219
RCV003801907
RCV003817878
RCV003809561
RCV003812543
RCV005222915
RCV000591001
RCV000504572
RCV005030747
RCV006257298
RCV000556416
RCV000578479
RCV000691580
RCV000703020
RCV000693381
RCV000691129
RCV000055830
RCV000055831
RCV001994033
RCV001041434
Jeune thoracic dystrophy Pathogenic; Likely pathogenic rs1553316926, rs776631281, rs199952377 RCV000516006
RCV000516020
RCV000515864
Short rib-polydactyly syndrome Likely pathogenic; Pathogenic rs886044119, rs1050086118, rs1558342399 RCV000851219
RCV000851217
RCV000851216
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs16987240, rs2293671, rs2293670 RCV005915157
RCV005915400
RCV005916884
Cervical cancer Benign rs16987240 RCV005915159
Cholangiocarcinoma Benign rs2293670, rs62109410 RCV005916887
RCV005921732
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs2293671 RCV005915405
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Campomelic Dysplasia Associate 29921221
Carcinoma Ductal Associate 33369054
Ciliopathies Associate 22987818
Coronary Artery Disease Associate 33009702
Cranioectodermal Dysplasia Associate 20817137, 22987818, 29921221, 30570184, 32007091
Craniofacial Abnormalities Associate 29921221
Ellis Van Creveld Syndrome Associate 25908617, 29229899
Genetic Diseases Inborn Associate 30570184
Liver Diseases Associate 33369054
Neointima Associate 37703354