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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	26160
Gene name	Intraflagellar transport 172
Gene symbol	IFT172
Synonyms (NCBI Gene)	BBS20NPHP17RP71SLBSRTD10osm-1wim
Chromosome	2
Chromosome location	2p23.3
Summary	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

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

3650

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bardet-Biedl syndrome	Likely pathogenic	rs1668654133	RCV001195537
Bardet-Biedl syndrome 20	Pathogenic; Likely pathogenic	rs149614625, rs587777078, rs587777079, rs587777086, rs2148467517, rs999731005, rs1309394469, rs2148476381, rs774548930, rs150246251, rs1329856696, rs761095604, rs1453282096, rs786205855, rs370540673 View all (11 more)	RCV002483157 RCV002505011 RCV002483158 RCV002505012 RCV005023147 RCV002476718 RCV005014547 RCV002508154 RCV002497968 RCV002490161 RCV002497875 RCV002507702 RCV005023300 RCV002508142 RCV004562395 RCV005021575 RCV005016550 RCV005027988 RCV005019546 RCV005028132 RCV005021713 RCV005030266 RCV005014975 RCV002476034 RCV005232044 RCV005029791
IFT172-related disorder	Pathogenic; Likely pathogenic	rs149614625, rs144450109, rs774548930, rs150246251, rs2148559396, rs2148472644, rs786205855, rs370540673, rs139021548, rs2465853379, rs757253624, rs750338419, rs762958757	RCV004737195 RCV004552063 RCV004738483 RCV004738423 RCV004552055 RCV002222927 RCV005867991 RCV004737264 RCV004737295 RCV004550789 RCV004723475 RCV004551657 RCV004738202
Joubert syndrome	Likely pathogenic; Pathogenic	rs587777079	RCV000201713
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2465811314, rs1366937730	RCV003890656 RCV001073779
Retinitis pigmentosa	Pathogenic	rs149614625	RCV001723662
Retinitis pigmentosa 71	Pathogenic; Likely pathogenic	rs149614625, rs587777078, rs587777079, rs587777083, rs587777086, rs587777087, rs2148464837, rs2148546998, rs2148467030, rs2148467517, rs1665095139, rs1665288663, rs2148485970, rs778898472, rs999731005 View all (77 more)	RCV001228000 RCV002514456 RCV002483158 RCV002513860 RCV002505012 RCV001854452 RCV001379241 RCV001377047 RCV001383298 RCV001386730 RCV001383779 RCV001381451 RCV001390978 RCV001388444 RCV001380017 RCV001389719 RCV001383497 RCV001535958 RCV002032074 RCV001900064 RCV001891017 RCV001942869 RCV002006167 RCV001900954 RCV002007153 RCV002007538 RCV001962945 RCV002035036 RCV001972379 RCV001972762 RCV001961560 RCV001948629 RCV002026903 RCV002020969 RCV001867028 RCV003058907 RCV003765075 RCV002492710 RCV000171550 RCV000171551 RCV000171552 RCV003097514 RCV002649503 RCV002676048 RCV001387370 RCV002843687 RCV002856929 RCV002828783 RCV002856113 RCV002835024 RCV002862345 RCV002881703 RCV002857976 RCV002852160 RCV002866935 RCV002866943 RCV002889930 RCV002995208 RCV003002800 RCV003018642 RCV003026759 RCV003047683 RCV003049449 RCV003049497 RCV003046567 RCV003046686 RCV003052437 RCV005021713 RCV003782114 RCV003782148 RCV003779391 RCV003792783 RCV003786730 RCV003786745 RCV003796128 RCV003794237 RCV003794253 RCV003794562 RCV003792499 RCV003808290 RCV003790902 RCV003806285 RCV003800585 RCV003795259 RCV003809330 RCV003813066 RCV001865399 RCV000810508 RCV000702336 RCV001213870 RCV001207420 RCV001207600 RCV001227918 RCV001247743
Short-rib thoracic dysplasia 10 with or without polydactyly	Pathogenic; Likely pathogenic	rs149614625, rs587777078, rs587777079, rs587777083, rs587777085, rs587777086, rs587777087, rs2148464837, rs2148546998, rs2148467030, rs2148467517, rs1665095139, rs1665288663, rs2148485970, rs778898472 View all (75 more)	RCV000083268 RCV002514456 RCV000083270 RCV002513860 RCV000083277 RCV002505012 RCV001854452 RCV001379241 RCV001377047 RCV001383298 RCV001386730 RCV001383779 RCV001381451 RCV001390978 RCV001388444 RCV001380017 RCV001389719 RCV001383497 RCV001535958 RCV002032074 RCV001900064 RCV001891017 RCV001942869 RCV002006167 RCV001900954 RCV002007153 RCV002007538 RCV001962945 RCV002035036 RCV001972379 RCV001972762 RCV001961560 RCV001948629 RCV002026903 RCV002020969 RCV001867028 RCV003058907 RCV003765075 RCV002492710 RCV003097514 RCV002649503 RCV002676048 RCV000190597 RCV002843687 RCV002856929 RCV002828783 RCV002856113 RCV002835024 RCV002862345 RCV002881703 RCV002857976 RCV002852160 RCV002866935 RCV002866943 RCV002889930 RCV002995208 RCV003002800 RCV003018642 RCV003026759 RCV003047683 RCV003049449 RCV003049497 RCV003046567 RCV003046686 RCV003052437 RCV005021713 RCV003782114 RCV003782148 RCV003779391 RCV003792783 RCV003786730 RCV003786745 RCV003796128 RCV003794237 RCV003794253 RCV003794562 RCV003792499 RCV003808290 RCV003790902 RCV003806285 RCV003800585 RCV003795259 RCV003809330 RCV003813066 RCV001865399 RCV000810508 RCV000702336 RCV001213870 RCV001207420 RCV001207600 RCV001227918 RCV001247743
Short-rib thoracic dysplasia 10 with polydactyly	Pathogenic	rs587777083, rs587777087	RCV000083275 RCV000083279
Short-rib thoracic dysplasia 10 without polydactyly	Pathogenic; Likely pathogenic	rs587777078, rs587777081, rs587777082, rs587777084, rs587777086	RCV000083269 RCV000083272 RCV000083273 RCV000083276 RCV000083278
Short-rib thoracic dysplasia 6 with or without polydactyly	Likely pathogenic; Pathogenic	rs750338419	RCV000515844

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign; Likely benign	rs201231401, rs75809198	RCV005898062 RCV005896395
Anophthalmia-microphthalmia syndrome	Likely benign; Conflicting classifications of pathogenicity	rs869025254, rs369191459	RCV000207390 RCV000207410
Asphyxiating thoracic dystrophy 1	Conflicting classifications of pathogenicity	rs141440865	RCV003483758
Bardet-Biedl syndrome 1	Uncertain significance	rs764302265	RCV003229041
Bardet-Biedl syndrome 22	Uncertain significance	rs1282056614, rs144645349	RCV001257321 RCV001257322
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs148624326, rs201231401, rs75809198, rs139229844, rs183677465	RCV005891041 RCV005898064 RCV005896398 RCV005900082 RCV005905438
Clear cell carcinoma of kidney	Benign; Likely benign	rs148624326	RCV005891042
Colon adenocarcinoma	Benign; Likely benign	rs148624326, rs704793	RCV005891040 RCV005896403
Colorectal cancer	Benign; Likely benign	rs148624326	RCV005891043
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs141086523, rs201637357, rs148624326, rs201231401	RCV005921211 RCV005930354 RCV005891039 RCV005898061
Gastric cancer	Benign; Likely benign	rs148624326, rs75809198	RCV005891045 RCV005896399
Hepatocellular carcinoma	Likely benign	rs768705269	RCV005907673
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	rs1248268202, rs142409945	RCV005626689 RCV005625682
Lung cancer	Benign; Likely benign	rs148624326	RCV005891050
Lymphoma	Benign; Likely benign	rs75809198	RCV005896400
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	rs201231401, rs75809198	RCV005898063 RCV005896396
Melanoma	Benign; Likely benign; Uncertain significance	rs148624326, rs371011000	RCV005891049 RCV005909111
Nephronophthisis	Uncertain significance	rs1317766293, rs1327376049	RCV001328080 RCV001328081
Neurodevelopmental disorder	Uncertain significance	rs202111577	RCV002279692
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs75809198	RCV005896397
Oligodontia-cancer predisposition syndrome	Benign; Likely benign	rs61743977	RCV005628147
Optic atrophy	Conflicting classifications of pathogenicity; Uncertain significance	rs138511988, rs142227350	RCV004818046 RCV004818037
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs199631887, rs546122503, rs754154643, rs148624326, rs201231401, rs75809198	RCV005911040 RCV005912791 RCV005930383 RCV005891046 RCV005898065 RCV005896401
Sarcoma	Benign; Likely benign	rs148624326, rs704793	RCV005891044 RCV005896404
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs148624326	RCV005891048
Uterine carcinosarcoma	Benign; Likely benign	rs148624326, rs75809198	RCV005891047 RCV005896402
Uterine corpus endometrial carcinoma	Benign	rs704793	RCV005896405

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)