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.	9742
Gene name Gene Name - the full gene name approved by the HGNC.	Intraflagellar transport 140
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IFT140
Synonyms (NCBI Gene) Gene synonyms aliases	CED5, MZSDS, PKD9, RP80, SRTD9, WDTC2, c305C8.4, c380F5.1, gs114
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surfa

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35823417	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, synonymous variant, missense variant, coding sequence variant
rs137925718	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, genic upstream transcript variant
rs141542834	G>A,T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs141779807	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs144028766	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs144513458	G>C	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs144726977	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs145549969	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs146172074	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs199826737	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, intron variant
rs201384469	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs372233286	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs374661866	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs376586707	C>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs387907192	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs431905520	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs554196965	G>A,C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs559371453	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs587776909	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs746697405	TTGGCC>-,TTGGCCTTGGCC	Uncertain-significance, likely-pathogenic	Inframe insertion, genic downstream transcript variant, inframe deletion, coding sequence variant
rs764770536	C>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs766084603	->GCCC	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs777889289	C>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs779007169	C>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs794727473	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1002670900	G>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs1057518064	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1417500285	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1423102192	C>T	Pathogenic	Genic downstream transcript variant, intron variant
rs1555474009	->TAGG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555486629	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1555487977	TATT>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567327347	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567330535	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT038876	hsa-miR-93-3p	CLASH	23622248
MIRT572795	hsa-miR-22-3p	PAR-CLIP	20371350
MIRT572794	hsa-miR-3681-5p	PAR-CLIP	20371350
MIRT572793	hsa-miR-6849-5p	PAR-CLIP	20371350
MIRT572791	hsa-miR-6080	PAR-CLIP	20371350
MIRT572792	hsa-miR-558	PAR-CLIP	20371350
MIRT572790	hsa-miR-4633-3p	PAR-CLIP	20371350
MIRT572789	hsa-miR-6500-5p	PAR-CLIP	20371350
MIRT572788	hsa-miR-6874-5p	PAR-CLIP	20371350
MIRT572795	hsa-miR-22-3p	PAR-CLIP	20371350
MIRT572794	hsa-miR-3681-5p	PAR-CLIP	20371350
MIRT572793	hsa-miR-6849-5p	PAR-CLIP	20371350
MIRT572791	hsa-miR-6080	PAR-CLIP	20371350
MIRT572792	hsa-miR-558	PAR-CLIP	20371350
MIRT572790	hsa-miR-4633-3p	PAR-CLIP	20371350
MIRT572789	hsa-miR-6500-5p	PAR-CLIP	20371350
MIRT572788	hsa-miR-6874-5p	PAR-CLIP	20371350
MIRT1060996	hsa-miR-3202	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq
MIRT1060999	hsa-miR-4743	CLIP-seq
MIRT1061000	hsa-miR-541	CLIP-seq
MIRT1061001	hsa-miR-654-5p	CLIP-seq
MIRT1060996	hsa-miR-3202	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq
MIRT2014242	hsa-miR-103a	CLIP-seq
MIRT2014243	hsa-miR-107	CLIP-seq
MIRT2014244	hsa-miR-1184	CLIP-seq
MIRT2014245	hsa-miR-1205	CLIP-seq
MIRT2014246	hsa-miR-15a	CLIP-seq
MIRT2014247	hsa-miR-15b	CLIP-seq
MIRT2014248	hsa-miR-16	CLIP-seq
MIRT2014249	hsa-miR-1909	CLIP-seq
MIRT2014250	hsa-miR-1912	CLIP-seq
MIRT2014251	hsa-miR-195	CLIP-seq
MIRT2014252	hsa-miR-22	CLIP-seq
MIRT2014253	hsa-miR-3158-5p	CLIP-seq
MIRT1060996	hsa-miR-3202	CLIP-seq
MIRT2014254	hsa-miR-3665	CLIP-seq
MIRT2014255	hsa-miR-3681	CLIP-seq
MIRT2014256	hsa-miR-424	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq
MIRT2014257	hsa-miR-4736	CLIP-seq
MIRT2014258	hsa-miR-486-3p	CLIP-seq
MIRT2014259	hsa-miR-497	CLIP-seq
MIRT2014260	hsa-miR-532-5p	CLIP-seq
MIRT2014261	hsa-miR-544	CLIP-seq
MIRT2014262	hsa-miR-764	CLIP-seq
MIRT2014245	hsa-miR-1205	CLIP-seq
MIRT2246458	hsa-miR-3150a-3p	CLIP-seq
MIRT2246459	hsa-miR-3175	CLIP-seq
MIRT1060996	hsa-miR-3202	CLIP-seq
MIRT2246460	hsa-miR-3664-3p	CLIP-seq
MIRT2246461	hsa-miR-4267	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq
MIRT2246462	hsa-miR-939	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27173435, 27932497, 29220510
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005813	Component	Centrosome	IDA	23418020
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	27932497
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:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0021532	Process	Neural tube patterning	IEA
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:0031076	Process	Embryonic camera-type eye development	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0035721	Process	Intraciliary retrograde transport	IMP	22503633
GO:0035721	Process	Intraciliary retrograde transport	NAS	27806291
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	22503633
GO:0036064	Component	Ciliary basal body	IEA
GO:0042073	Process	Intraciliary transport	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	28724397
GO:0060271	Process	Cilium assembly	NAS	27806291
GO:0061512	Process	Protein localization to cilium	IMP	20889716
GO:0061512	Process	Protein localization to cilium	IMP	22503633
GO:0097542	Component	Ciliary tip	TAS
GO:0097730	Component	Non-motile cilium	IEA
GO:0120199	Component	Cone photoreceptor outer segment	IEA
GO:1902017	Process	Regulation of cilium assembly	IMP	22503633
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990403	Process	Embryonic brain development	IEA

MIM	HGNC	e!Ensembl
614620	29077	ENSG00000187535

Protein

UniProt ID

Q96RY7

Protein name

Intraflagellar transport protein 140 homolog (WD and tetratricopeptide repeats protein 2)

Protein function

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) (PubMed:20889716, PubMed:22503633). Plays a pivotal role in proper development and function o

PDB

8BBF , 8BBG , 8FGW , 8FH3

Family and domains

Sequence

MALYYDHQIEAPDAAGSPSFISWHPVHPFLAVAYISTTSTGSVDIYLEQGECVPDTHVER
PFRVASLCWHPTRLVLAVGWETGEVTVFNKQDKEQHTMPLTHTADITVLRWSPSGNCLLS
GDRLGVLLLWRLDQRGRVQGTPLLKHEYGKHLTHCIFRLPPPGEDLVQLAKAAVSGDEKA
LDMFNWKKSSSGSLLKMGSHEGLLFFVSLMDGTVHYVDEKGKTTQVVSADSTIQMLFYME
KREALVVVTENLRLSLYTVPPEGKAEEVMKVKLSGKTGRRADIALIEGSLLVMAVGEAAL
RFWDIERGENYILSPDEKFGFEKGENMNCVCYCKVKGLLAAGTDRGRVAMWRKVPDFLGS
PGAEGKDRWALQTPTELQGNITQIQWGSRKNLLAVNSVISVAILSERAMSSHFHQQVAAM
QVSPSLLNVCFLSTGVAHSLRTDMHISGVFATKDAVAVWNGRQVAIFELSGAAIRSAGTF
LCETPVLAMHEENVYTVESNRVQVRTWQGTVKQLLLFSETEGNPCFLDICGNFLVVGTDL
AHFKSFDLSRREAKAHCSCRSLAELVPGVGGIASLRCSSSGSTISILPSKADNSPDSKIC
FYDVEMDTVTVFDFKTGQIDRRETLSFNEQETNKSHLFVDEGLKNYVPVNHFWDQSEPRL
FVCEAVQETPRSQPQSANGQPQDGRAGPAADVLILSFFISEEHGFLLHESFPRPATSHSL
LGMEVPYYYFTRKPEEADREDEVEPGCHHIPQMVSRRPLRDFVGLEDCDKATRDAMLHFS
FFVTIGDMDEAFKSIKLIKSEAVWENMARMCVKTQRLDVAKVCLGNMGHARGARALREAE
QEPELEARVAVLATQLGMLEDAEQLYRKCKRHDLLNKFYQAAGRWQEALQVAEHHDRVHL
RSTYHRYAGHLEASADCSRALSYYEKSDTHRFEVPRMLSEDLPSLELYVNKMKDKTLWRW
WAQYLESQGEMDAALHYYELARDHFSLVRIHCFQGNVQKAAQIANETGNLAASYHLARQY
ESQEEVGQAVHFYTRAQAFKNAIRLCKENGLDDQLMNLALLSSPEDMIEAARYYEEKGVQ
MDRAVMLYHKAGHFSKALELAFATQQFVALQLIAEDLDETSDPALLARCSDFFIEHSQYE
RAVELLLAARKYQEALQLCLGQNMSITEEMAEKMTVAKDSSDLPEESRRELLEQIADCCM
RQGSYHLATKKYTQAGNKLKAMRALLKSGDTEKITFFASVSRQKEIYIMAANYLQSLDWR
KEPEIMKNIIGFYTKGRALDLLAGFYDACAQVEIDEYQNYDKAHGALTEAYKCLAKAKAK
SPLDQETRLAQLQSRMALVKRFIQARRTYTEDPKESIKQCELLLEEPDLDSTIRIGDVYG
FLVEHYVRKEEYQTAYRFLEEMRRRLPLANMSYYVSPQAVDAVHRGLGLPLPRTVPEQVR
HNSMEDARELDEEVVEEADDDP

Sequence length

1462

Interactions

View interactions

	Reactome
			Hedgehog 'off' state Intraflagellar transport

Show/Hide Causal Diseases (8)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Jeune Thoracic Dystrophy	jeune thoracic dystrophy	rs431905521, rs201188361, rs587776909, rs770185023	N/A
Nephronophthisis	nephronophthisis	rs201188361	N/A
Polycystic kidney disease	autosomal dominant polycystic kidney disease	rs144513458, rs376586707	N/A
retinal dystrophy	Retinal dystrophy	rs762111572, rs2033706353, rs431905521, rs2034681207, rs1002670900, rs2034747055, rs762817061, rs779007169, rs2035847573, rs376586707, rs758052634, rs748523056, rs2034739931	N/A
Retinitis Pigmentosa	retinitis pigmentosa 80, retinitis pigmentosa	rs770185023, rs758052634, rs431905521, rs140039128, rs773372123, rs559371453, rs387907192, rs1555474009, rs779007169, rs1555487977, rs201188361, rs1441549097, rs376586707, rs1423102192, rs777889289	N/A
Saldino-Mainzer Syndrome	saldino-mainzer syndrome	rs1567327347, rs2034739931, rs1403669200, rs1555486629, rs387907193, rs140039128, rs766084603, rs1002670900, rs431905506, rs201188361, rs431905522, rs773372123, rs387907192, rs1555478654, rs1567407044 View all (15 more)	N/A
polycystic kidney disease	Polycystic kidney disease	rs376586707	N/A
renal cyst	Renal cyst	rs376586707, rs140039128, rs431905522, rs1567413573	N/A

Show/Hide Unknown Diseases (7)

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.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Dermatitis	Atopic dermatitis	N/A	N/A	GWAS
Jeune Syndrome	Jeune syndrome	N/A	N/A	GenCC
Leber Congenital Amaurosis	Leber congenital amaurosis	N/A	N/A	GenCC
Microcephaly	microcephaly	N/A	N/A	ClinVar
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Thoracic dysplasia	short-rib thoracic dysplasia 9 with or without polydactyly	N/A	N/A	GenCC

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arrest of spermatogenesis	Associate	38084016
Ciliary Motility Disorders	Associate	34556108
Ciliopathies	Associate	26968735, 29688594, 29706353, 34890546, 37628605
Cranioectodermal Dysplasia	Associate	32007091, 37628605
Cysts	Associate	40428294
Disease	Associate	26968735
Familial paroxysmal dystonia	Associate	34890546
Hamartoma	Associate	35137044
Hypertension	Associate	39732359
Hyperuricemia	Associate	40428294
Hypothalamic hamartomas	Associate	35137044
Infertility	Associate	38084016
Infertility Male	Associate	38084016
Jeune syndrome	Associate	22503633
Kidney Diseases	Associate	29706353, 39732359
Kidney Diseases Cystic	Associate	34890546, 36573973
Kidney Failure Chronic	Associate	32007091, 37628605
Leber Congenital Amaurosis	Associate	26216056
Liver Failure	Associate	34890546
Nephronophthisis familial juvenile	Associate	29706353
Nystagmus Pathologic	Associate	37628605
Polycystic Kidney Autosomal Dominant	Associate	34890546, 39732359, 40428294
Renal Insufficiency	Associate	32007091, 34890546, 39732359
Retinal Degeneration	Associate	26216056
Retinal Dystrophies	Associate	26968735, 36084042
Retinitis Pigmentosa	Associate	26216056, 26968735, 29688594, 38084016
RHYNS syndrome	Associate	38084016
Short Rib Polydactyly Syndrome	Associate	22503633, 29688594, 34217267, 34890546, 37628605, 38084016
Spermatogenic Failure Nonobstructive Y Linked	Associate	38084016
Thymoma	Associate	34219124

IFT140 (intraflagellar transport 140)