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.	26160
Gene name Gene Name - the full gene name approved by the HGNC.	Intraflagellar transport 172
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IFT172
Synonyms (NCBI Gene) Gene synonyms aliases	BBS20, NPHP17, RP71, SLB, SRTD10, osm-1, wim
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydact

Show/Hide all(21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61743977	G>C	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant, 5 prime UTR variant
rs61747068	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs139021548	G>A,C	Likely-pathogenic	Missense variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, upstream transcript variant, stop gained
rs145541911	G>A	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201862538	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs202024173	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs370540673	C>A,T	Pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs587777079	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587777080	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587777081	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587777082	C>T	Pathogenic	Splice donor variant
rs587777083	TC>-,TCTC	Pathogenic	Intron variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs587777084	TCAATA>-	Pathogenic	Inframe deletion, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs587777085	A>T	Pathogenic	Missense variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs587777086	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587777087	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs750338419	->T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs786205857	A>G	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs786205858	A>T	Pathogenic	Intron variant
rs1250676888	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained, genic upstream transcript variant
rs1553322497	->G	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049558	hsa-miR-92a-3p	CLASH	23622248

Show/Hide all(51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001841	Process	Neural tube formation	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001947	Process	Heart looping	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0005929	Component	Cilium	NAS	26980730
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0016485	Process	Protein processing	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0030990	Component	Intraciliary transport particle	IEA
GO:0030992	Component	Intraciliary transport particle B	IBA
GO:0030992	Component	Intraciliary transport particle B	IEA
GO:0030992	Component	Intraciliary transport particle B	IPI	26980730
GO:0030992	Component	Intraciliary transport particle B	ISS
GO:0031122	Process	Cytoplasmic microtubule organization	IEA
GO:0035720	Process	Intraciliary anterograde transport	NAS	26980730
GO:0036064	Component	Ciliary basal body	IBA
GO:0042073	Process	Intraciliary transport	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060173	Process	Limb development	IEA
GO:0060271	Process	Cilium assembly	IDA	24140113
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0060271	Process	Cilium assembly	NAS	26980730
GO:0060348	Process	Bone development	IEA
GO:0061525	Process	Hindgut development	IEA
GO:0070986	Process	Left/right axis specification	IEA
GO:0097225	Component	Sperm midpiece	IEA
GO:0097228	Component	Sperm principal piece	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097598	Component	Sperm cytoplasmic droplet	IEA
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
607386	30391	ENSG00000138002

Protein

UniProt ID

Q9UG01

Protein name

Intraflagellar transport protein 172 homolog

Protein function

Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity).

PDB

9H2D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	3 → 44	WD domain, G-beta repeat	Repeat

Sequence

MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADM
KYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQW
PAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYF
FDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFDYSRDPQE
REFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSR
LCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEV
KILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLV
EYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIG
TVSHESRVDWLELNETGHKLLFRDRKLRLHLYDIESCSKTMILNFCSYMQWVPGSDVLVA
QNRNSLCVWYNIEAPERVTMFTIRGDVIGLERGGGKTEVMVMEGVTTVAYTLDEGLIEFG
TAIDDGNYIRATAFLETLEMTPETEAMWKTLSKLALEARQLHIAERCFSALGQVAKARFL
HETNEIADQVSREYGGEGTDFYQVRARLAMLEKNYKLAEMIFLEQNAVEEAMGMYQELHR
WDECIAVAEAKGHPALEKLRRSYYQWLMDTQQEERAGELQESQGDGLAAISLYLKAGLPA
KAARLVLTREELLANTELVEHITAALIKGELYERAGDLFEKIHNPQKALECYRKGNAFMK
AVELARLAFPVEVVKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAIEAALGARQWKKAI
YILDLQDRNTASKYYPLVAQHYASLQEYEIAEELYTKGDRTKDAIDMYTQAGRWEQAHKL
AMKCMRPEDVSVLYITQAQEMEKQGKYREAERLYVTVQEPDLAITMYKKHKLYDDMIRLV
GKHHPDLLSDTHLHLGKELEAEGRLQEAEYHYLEAQEWKATVNMYRASGLWEEAYRVART
QGGANAHKHVAYLWAKSLGGEAAVRLLNKLGLLEAAVDHAADNCSFEFAFELSRLALKHK
TPEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAVLMFVHNQDWEAAQRVAEAHDPDSVA
EVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEAL
QEEYEREATKKGARGVEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKAAE
LSIKFLPPQRNMEVVLAVGPQLIGIGKHSAAAELYLNLDLVKEAIDAFIEGEEWNKAKRV
AKELDPRYEDYVDQHYKEFLKNQGKVDSLVGVDVIAALDLYVEQGQWDKCIETATKQNYK
ILHKYVALYATHLIREGSSAQALALYVQHGAPANPQNFNIYKRIFTDMVSSPGTNCAEAY
HSWADLRDVLFNLCENLVKSSEANSPAHEEFKTMLLIAHYYATRSAAQSVKQLETVAARL
SVSLLRHTQLLPVDKAFYEAGIAAKAVGWDNMAFIFLNRFLDLTDAIEEGTLDGLDHSDF
QDTDIPFEVPLPAKQHVPEAEREEVRDWVLTVSMDQRLEQVLPRDERGAYEASLVAASTG
VRALPCLITGYPILRNKIEFKRPGKAANKDNWNKFLMAIKTSHSPVCQDVLKFISQWCGG
LPSTSFSFQ

Sequence length

1749

Interactions

View interactions

	Reactome
			Hedgehog 'off' state Intraflagellar transport

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Bardet-Biedl Syndrome	bardet-biedl syndrome 20	rs786205855, rs370540673	N/A
retinal dystrophy	Retinal dystrophy	rs1366937730	N/A
Retinitis Pigmentosa	retinitis pigmentosa 71, retinitis pigmentosa	rs587777086, rs149614625, rs786205856, rs786205857, rs786205858	N/A
Short-Rib Thoracic Dysplasia With Or Without Polydactyly	short-rib thoracic dysplasia 10 with or without polydactyly, Short-rib thoracic dysplasia 10 without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly	rs149614625, rs587777078, rs587777079, rs587777081, rs139021548, rs587777082, rs750338419, rs587777084, rs202024173, rs587777085, rs587777086	N/A
Cerebellar vermis agenesis	familial aplasia of the vermis	rs587777079	N/A

Show/Hide Unknown Diseases (6)

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.
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia-microphthalmia syndrome	N/A	N/A	ClinVar
Jeune Syndrome	Jeune syndrome	N/A	N/A	GenCC
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Psoriasis	Psoriasis	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 (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Basal Cell Nevus Syndrome	Associate	34674729
Carcinoma Basal Cell	Associate	34674729
Cholestasis	Associate	37471416
Ciliopathies	Associate	38062428
Fibrosis	Associate	37471416
Glycogen Storage Disease	Associate	37471416
Hyperbilirubinemia	Associate	37471416
Hypertriglyceridemia	Associate	37834292
Immune dysfunction with T cell inactivation due to calcium entry defect 2	Associate	38062428
Liver Diseases	Associate	37471416
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	38062428
Nephronophthisis familial juvenile	Associate	37471416
Nonsyndromic Holoprosencephaly	Associate	37471416
Short Rib Polydactyly Syndrome	Associate	37471416, 38062428

IFT172 (intraflagellar transport 172)