Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57539
Gene name Gene Name - the full gene name approved by the HGNC.	WD repeat domain 35
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	WDR35
Synonyms (NCBI Gene) Gene synonyms aliases	CED2, CFAP118, FAP118, IFT121, IFTA1, SRTD7
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p24.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(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
rs144673252	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, intron variant
rs144701688	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs147325795	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs148828104	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, intron variant
rs151047156	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs182360785	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, synonymous variant
rs199840434	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs199952377	A>C	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs200140363	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200649783	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs201207790	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs267607174	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267607175	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs371669862	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs387907085	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs397515334	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs397515533	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397515535	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs397515536	A>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs431905505	A>G	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs541910371	T>C,G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs745486923	->TC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs746128772	C>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs754712378	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756004566	CA>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs758456073	G>A,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant, stop gained
rs765513105	C>T	Pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs767751856	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs776631281	T>C	Pathogenic	Intron variant
rs886043316	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs886044119	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1050086118	G>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs1327489348	->C	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1553313859	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1553316926	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1553317813	CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT>-	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, splice acceptor variant
rs1553324519	A>T	Pathogenic	Genic upstream transcript variant, intron variant
rs1558342399	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all(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
MIRT695762	hsa-miR-6866-5p	HITS-CLIP	23313552
MIRT695761	hsa-miR-340-5p	HITS-CLIP	23313552
MIRT695760	hsa-miR-5007-3p	HITS-CLIP	23313552
MIRT695759	hsa-miR-544a	HITS-CLIP	23313552
MIRT695758	hsa-miR-6738-3p	HITS-CLIP	23313552
MIRT300032	hsa-miR-5692a	PAR-CLIP	22100165
MIRT300030	hsa-miR-3163	PAR-CLIP	22100165
MIRT447429	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT300032	hsa-miR-5692a	PAR-CLIP	22100165
MIRT300030	hsa-miR-3163	PAR-CLIP	22100165
MIRT447429	hsa-miR-95-5p	PAR-CLIP	22100165
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
MIRT695762	hsa-miR-6866-5p	HITS-CLIP	23313552
MIRT695761	hsa-miR-340-5p	HITS-CLIP	23313552
MIRT695760	hsa-miR-5007-3p	HITS-CLIP	23313552
MIRT695759	hsa-miR-544a	HITS-CLIP	23313552
MIRT695758	hsa-miR-6738-3p	HITS-CLIP	23313552
MIRT300032	hsa-miR-5692a	PAR-CLIP	22100165
MIRT300030	hsa-miR-3163	PAR-CLIP	22100165
MIRT447429	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT300032	hsa-miR-5692a	PAR-CLIP	22100165
MIRT300030	hsa-miR-3163	PAR-CLIP	22100165
MIRT447429	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT1490134	hsa-miR-186	CLIP-seq
MIRT1490135	hsa-miR-28-3p	CLIP-seq
MIRT1490136	hsa-miR-3133	CLIP-seq
MIRT1490137	hsa-miR-338-5p	CLIP-seq
MIRT1490138	hsa-miR-3617	CLIP-seq
MIRT1490139	hsa-miR-3647-3p	CLIP-seq
MIRT1490140	hsa-miR-3978	CLIP-seq
MIRT1490141	hsa-miR-421	CLIP-seq
MIRT1490142	hsa-miR-4666-3p	CLIP-seq
MIRT1490143	hsa-miR-4709-5p	CLIP-seq
MIRT1490144	hsa-miR-4766-5p	CLIP-seq
MIRT1490145	hsa-miR-4768-3p	CLIP-seq
MIRT1490146	hsa-miR-641	CLIP-seq
MIRT2147812	hsa-miR-1200	CLIP-seq
MIRT2147813	hsa-miR-1207-3p	CLIP-seq
MIRT2147814	hsa-miR-3920	CLIP-seq
MIRT2147815	hsa-miR-4272	CLIP-seq
MIRT2147816	hsa-miR-4324	CLIP-seq
MIRT2147817	hsa-miR-4329	CLIP-seq
MIRT2147818	hsa-miR-4452	CLIP-seq
MIRT2147819	hsa-miR-544b	CLIP-seq
MIRT2368172	hsa-miR-4423-3p	CLIP-seq
MIRT2368173	hsa-miR-4783-5p	CLIP-seq
MIRT2368174	hsa-miR-4787-3p	CLIP-seq
MIRT2368175	hsa-miR-513a-3p	CLIP-seq
MIRT2396939	hsa-miR-1324	CLIP-seq
MIRT2396940	hsa-miR-3942-3p	CLIP-seq
MIRT2396941	hsa-miR-4514	CLIP-seq
MIRT2396942	hsa-miR-4692	CLIP-seq
MIRT2147812	hsa-miR-1200	CLIP-seq
MIRT2463408	hsa-miR-27a	CLIP-seq
MIRT2463409	hsa-miR-27b	CLIP-seq
MIRT2463410	hsa-miR-3153	CLIP-seq
MIRT2463411	hsa-miR-340	CLIP-seq
MIRT2147816	hsa-miR-4324	CLIP-seq
MIRT2147817	hsa-miR-4329	CLIP-seq
MIRT2463412	hsa-miR-513a-5p	CLIP-seq
MIRT2147819	hsa-miR-544b	CLIP-seq
MIRT2463413	hsa-miR-548a-3p	CLIP-seq
MIRT2463414	hsa-miR-548e	CLIP-seq
MIRT2463415	hsa-miR-548f	CLIP-seq
MIRT2661833	hsa-miR-1208	CLIP-seq
MIRT2661834	hsa-miR-132	CLIP-seq
MIRT2661835	hsa-miR-2053	CLIP-seq
MIRT2661836	hsa-miR-212	CLIP-seq
MIRT2661837	hsa-miR-25	CLIP-seq
MIRT2661838	hsa-miR-3160-5p	CLIP-seq
MIRT2661839	hsa-miR-32	CLIP-seq
MIRT2661840	hsa-miR-363	CLIP-seq
MIRT2661841	hsa-miR-367	CLIP-seq
MIRT2661842	hsa-miR-4279	CLIP-seq
MIRT2661843	hsa-miR-4317	CLIP-seq
MIRT2661844	hsa-miR-4326	CLIP-seq
MIRT2661845	hsa-miR-4704-5p	CLIP-seq
MIRT2661846	hsa-miR-518a-5p	CLIP-seq
MIRT2661847	hsa-miR-527	CLIP-seq
MIRT2661848	hsa-miR-564	CLIP-seq
MIRT2661849	hsa-miR-569	CLIP-seq
MIRT2661850	hsa-miR-659	CLIP-seq
MIRT2661851	hsa-miR-892a	CLIP-seq
MIRT2661852	hsa-miR-92a	CLIP-seq
MIRT2661853	hsa-miR-92b	CLIP-seq
MIRT2695206	hsa-miR-1301	CLIP-seq
MIRT2695207	hsa-miR-2964a-3p	CLIP-seq
MIRT2463410	hsa-miR-3153	CLIP-seq
MIRT2695208	hsa-miR-3684	CLIP-seq
MIRT2396941	hsa-miR-4514	CLIP-seq
MIRT2695209	hsa-miR-4660	CLIP-seq
MIRT2396942	hsa-miR-4692	CLIP-seq
MIRT2695210	hsa-miR-5047	CLIP-seq
MIRT2695211	hsa-miR-888	CLIP-seq

Show/Hide all(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
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	27806291
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030991	Component	Intraciliary transport particle A	IBA
GO:0030991	Component	Intraciliary transport particle A	IDA	20889716, 27932497
GO:0030991	Component	Intraciliary transport particle A	IEA
GO:0030991	Component	Intraciliary transport particle A	IPI	27173435
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	IMP	20889716
GO:0035721	Process	Intraciliary retrograde transport	NAS	27806291
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042073	Process	Intraciliary transport	IMP	29220510
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	21473986
GO:0060271	Process	Cilium assembly	NAS	27806291
GO:0061512	Process	Protein localization to cilium	IMP	29220510
GO:0097542	Component	Ciliary tip	TAS
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
613602	29250	ENSG00000118965

Protein

UniProt ID

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
HIYDNQGNFMIKMKLSCLVNVTGAISIAGIHWYHGTEGYVEPDCPCLAVCFDNGRCQIMR
HENDQNPVLIDTGMYVVGIQWNHMGSVLAVAGFQKAAMQDKDVNIVQFYTPFGEHLGTLK
VPGKEISALSWEGGGLKIALAVDSFIYFANIRPNYKWGYCSNTVVYAYTRPDRPEYCVVF
WDTKNNEKYVKYVKGLISITTCGDFCILATKADENHPQEENEMETFGATFVLVLCNSIGT
PLDPKYIDIVPLFVAMTKTHVIAASKEAFYTWQYRVAKKLTALEINQITRSRKEGRERIY
HVDDTPSGSMDGVLDYSKTIQGTRDPICAITASDKILIVGRESGTIQRYSLPNVGLIQKY
SLNCRAYQLSLNCNSSRLAIIDISGVLTFFDLDARVTDSTGQQVVGELLKLERRDVWDMK
WAKDNPDLFAMMEKTRMYVFRNLDPEEPIQTSGYICNFEDLEIKSVLLDEILKDPEHPNK
DYLINFEIRSLRDSRALIEKVGIKDASQFIEDNPHPRLWRLLAEAALQKLDLYTAEQAFV
RCKDYQGIKFVKRLGKLLSESMKQAEVVGYFGRFEEAERTYLEMDRRDLAIGLRLKLGDW
FRVLQLLKTGSGDADDSLLEQANNAIGDYFADRQKWLNAVQYYVQGRNQERLAECYYMLE
DYEGLENLAISLPENHKLLPEIAQMFVRVGMCEQAVTAFLKCSQPKAAVDTCVHLNQWNK
AVELAKNHSMKEIGSLLARYASHLLEKNKTLDAIELYRKANYFFDAAKLMFKIADEEAKK
GSKPLRVKKLYVLSALLIEQYHEQMKNAQRGKVKGKSSEATSALAGLLEEEVLSTTDRFT
DNAWRGAEAYHFFILAQRQLYEGCVDTALKTALHLKDYEDIIPPVEIYSLLALCACASRA
FGTCSKAFIKLKSLETLSSEQKQQYEDLALEIFTKHTSKDNRKPELDSLMEGGEGKLPTC
VATGSPITEYQFWMCSVCKHGVLAQEISHYSFCPLCHSPVG

Sequence length

1181

Interactions

View interactions

	Reactome
			Hedgehog 'off' state Intraflagellar transport

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cranioectodermal Dysplasia	cranioectodermal dysplasia 2	rs397515534, rs765513105, rs267607174, rs397515334, rs200140363, rs267607175, rs199952377, rs1553313859, rs746128772, rs397515533	N/A
Jeune Thoracic Dystrophy	jeune thoracic dystrophy	rs1553316926, rs776631281, rs199952377	N/A
Short Rib-Polydactyly Syndrome	short-rib thoracic dysplasia 7 with or without polydactyly, short rib-polydactyly syndrome	rs1558342399, rs765513105, rs387907085, rs431905505, rs1553324519, rs1050086118, rs886044119	N/A
Short-Rib Thoracic Dysplasia With Or Without Polydactyly	Short-rib thoracic dysplasia 6 with or without polydactyly	rs765513105	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Connective Tissue Disease	Connective tissue disorder	N/A	N/A	ClinVar
Ellis-Van Creveld Syndrome	ellis-van creveld syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Short Rib Polydactyly Syndrome	Associate	22987818
Vascular Diseases	Associate	33009702

WDR35 (WD repeat domain 35)