• Gene id: 26160

Gene Summary

• Gene Symbol: IFT172   Gene   UCSC   Ensembl
• Aliases: BBS20, NPHP17, RP71, SLB, SRTD10, osm-1, wim
• Gene name: intraflagellar transport 172
• Alternate names: intraflagellar transport protein 172 homolog, intraflagellar transport 172 homolog, selective LIM binding factor homolog, wimple homolog,
• Gene location: 2p23.3 (27489818: 27444372)     Exons: 52     NC_000002.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q9UG01  
  • Name: Intraflagellar transport protein 172 homolog
  • Length: 1749  
  • Mass: 197576
• Sequence:

  MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFS
  PDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANTKTNKSSTIYG
  TESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKE
  GHMLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSR
  LCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEVKILGKERYLVAHTSE
  TLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLVEYGNNDTLGSVRTEFMNPHLISVRINERCQ
  RGTEDNKKLAYLIDIKTIAIVDLIGGYNIGTVSHESRVDWLELNETGHKLLFRDRKLRLHLYDIESCSKTMILNF
  CSYMQWVPGSDVLVAQNRNSLCVWYNIEAPERVTMFTIRGDVIGLERGGGKTEVMVMEGVTTVAYTLDEGLIEFG
  TAIDDGNYIRATAFLETLEMTPETEAMWKTLSKLALEARQLHIAERCFSALGQVAKARFLHETNEIADQVSREYG
  GEGTDFYQVRARLAMLEKNYKLAEMIFLEQNAVEEAMGMYQELHRWDECIAVAEAKGHPALEKLRRSYYQWLMDT
  QQEERAGELQESQGDGLAAISLYLKAGLPAKAARLVLTREELLANTELVEHITAALIKGELYERAGDLFEKIHNP
  QKALECYRKGNAFMKAVELARLAFPVEVVKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAIEAALGARQWKKAI
  YILDLQDRNTASKYYPLVAQHYASLQEYEIAEELYTKGDRTKDAIDMYTQAGRWEQAHKLAMKCMRPEDVSVLYI
  TQAQEMEKQGKYREAERLYVTVQEPDLAITMYKKHKLYDDMIRLVGKHHPDLLSDTHLHLGKELEAEGRLQEAEY
  HYLEAQEWKATVNMYRASGLWEEAYRVARTQGGANAHKHVAYLWAKSLGGEAAVRLLNKLGLLEAAVDHAADNCS
  FEFAFELSRLALKHKTPEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAVLMFVHNQDWEAAQRVAEAHDPDSVA
  EVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEALQEEYEREATKKGARG
  VEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKAAELSIKFLPPQRNMEVVLAVGPQLIGIGKHSA
  AAELYLNLDLVKEAIDAFIEGEEWNKAKRVAKELDPRYEDYVDQHYKEFLKNQGKVDSLVGVDVIAALDLYVEQG
  QWDKCIETATKQNYKILHKYVALYATHLIREGSSAQALALYVQHGAPANPQNFNIYKRIFTDMVSSPGTNCAEAY
  HSWADLRDVLFNLCENLVKSSEANSPAHEEFKTMLLIAHYYATRSAAQSVKQLETVAARLSVSLLRHTQLLPVDK
  AFYEAGIAAKAVGWDNMAFIFLNRFLDLTDAIEEGTLDGLDHSDFQDTDIPFEVPLPAKQHVPEAEREEVRDWVL
  TVSMDQRLEQVLPRDERGAYEASLVAASTGVRALPCLITGYPILRNKIEFKRPGKAANKDNWNKFLMAIKTSHSP
  VCQDVLKFISQWCGGLPSTSFSFQ

• Structural information:
  • Interpro: IPR016024  IPR011990  IPR015943  IPR001680  IPR036322  
  • STRING: ENSP00000260570
• Other Databases: GeneCards:  IFT172  Malacards:  IFT172

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005930	axoneme	IBA	cellular component
GO:0036064	ciliary basal body	IBA	cellular component
GO:0042073	intraciliary transport	IBA	biological process
GO:0030992	intraciliary transport particle B	IBA	cellular component
GO:0060271	cilium assembly	IDA	biological process
GO:0030992	intraciliary transport particle B	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	TAS	biological process
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0001843	neural tube closure	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0008589	regulation of smoothened signaling pathway	IEA	biological process
GO:0030992	intraciliary transport particle B	IEA	cellular component
GO:0045879	negative regulation of smoothened signaling pathway	IEA	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0048596	embryonic camera-type eye morphogenesis	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0070986	left/right axis specification	IEA	biological process
GO:0097598	sperm cytoplasmic droplet	IEA	cellular component
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0031122	cytoplasmic microtubule organization	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0061525	hindgut development	IEA	biological process
GO:0097225	sperm midpiece	IEA	cellular component
GO:0097228	sperm principal piece	IEA	cellular component
GO:0001841	neural tube formation	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:0005929	cilium	ISS	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Short-rib thoracic dysplasia	KEGG:H02157
Retinitis pigmentosa	KEGG:H00527
Short-rib thoracic dysplasia	KEGG:H02157
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray