Property Summary

NCBI Gene PubMed Count 13
Grant Count 62
R01 Count 40
Funding $9,153,285.56
PubMed Score 279.60
PubTator Score 13.92

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9UG01 A5PKZ0 B2RNU5 Q86X44 Q96HW4 Q9UFJ9 Q9ULP1
Symbols SLB
wim
RP71
BBS20
osm-1
NPHP17
SRTD10

Gene

PANTHER Protein Class (1)

Gene RIF (3)

PMID Text
25168386 Findings identified mutations in IFT172 that lead to a recessive form of non-syndromic retinitis pigmentosa and Bardet-Biedl syndrome and suggest that the primary IFT172 mutations alone are not sufficient to explain the wide range of phenotypes.
24140113 We have identified defects in IFT172 as a cause of complex asphyxiating thoracic dystrophy and Mainzer-Saldino syndrome.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVK      1 - 70
GMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANT     71 - 140
KTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQGKLVNHPCPPYALAWATNSI    141 - 210
VAAGCDRKIVAYGKEGHMLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKP    211 - 280
KEITNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLK    281 - 350
SHYGYEVEEVKILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLV    351 - 420
EYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIGTVSHESRVDW    421 - 490
LELNETGHKLLFRDRKLRLHLYDIESCSKTMILNFCSYMQWVPGSDVLVAQNRNSLCVWYNIEAPERVTM    491 - 560
FTIRGDVIGLERGGGKTEVMVMEGVTTVAYTLDEGLIEFGTAIDDGNYIRATAFLETLEMTPETEAMWKT    561 - 630
LSKLALEARQLHIAERCFSALGQVAKARFLHETNEIADQVSREYGGEGTDFYQVRARLAMLEKNYKLAEM    631 - 700
IFLEQNAVEEAMGMYQELHRWDECIAVAEAKGHPALEKLRRSYYQWLMDTQQEERAGELQESQGDGLAAI    701 - 770
SLYLKAGLPAKAARLVLTREELLANTELVEHITAALIKGELYERAGDLFEKIHNPQKALECYRKGNAFMK    771 - 840
AVELARLAFPVEVVKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAIEAALGARQWKKAIYILDLQDRNT    841 - 910
ASKYYPLVAQHYASLQEYEIAEELYTKGDRTKDAIDMYTQAGRWEQAHKLAMKCMRPEDVSVLYITQAQE    911 - 980
MEKQGKYREAERLYVTVQEPDLAITMYKKHKLYDDMIRLVGKHHPDLLSDTHLHLGKELEAEGRLQEAEY    981 - 1050
HYLEAQEWKATVNMYRASGLWEEAYRVARTQGGANAHKHVAYLWAKSLGGEAAVRLLNKLGLLEAAVDHA   1051 - 1120
ADNCSFEFAFELSRLALKHKTPEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAVLMFVHNQDWEAAQRV   1121 - 1190
AEAHDPDSVAEVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEAL   1191 - 1260
QEEYEREATKKGARGVEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKAAELSIKFLPPQR   1261 - 1330
NMEVVLAVGPQLIGIGKHSAAAELYLNLDLVKEAIDAFIEGEEWNKAKRVAKELDPRYEDYVDQHYKEFL   1331 - 1400
KNQGKVDSLVGVDVIAALDLYVEQGQWDKCIETATKQNYKILHKYVALYATHLIREGSSAQALALYVQHG   1401 - 1470
APANPQNFNIYKRIFTDMVSSPGTNCAEAYHSWADLRDVLFNLCENLVKSSEANSPAHEEFKTMLLIAHY   1471 - 1540
YATRSAAQSVKQLETVAARLSVSLLRHTQLLPVDKAFYEAGIAAKAVGWDNMAFIFLNRFLDLTDAIEEG   1541 - 1610
TLDGLDHSDFQDTDIPFEVPLPAKQHVPEAEREEVRDWVLTVSMDQRLEQVLPRDERGAYEASLVAASTG   1611 - 1680
VRALPCLITGYPILRNKIEFKRPGKAANKDNWNKFLMAIKTSHSPVCQDVLKFISQWCGGLPSTSFSFQ    1681 - 1749
//

Text Mined References (16)

PMID Year Title
26763875 2016 Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
25168386 2015 Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
24769233 2014 Proteomic analysis of cerebrospinal fluid extracellular vesicles: a comprehensive dataset.
24140113 2013 Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
23505323 2013 Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
20705733 2010 Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
20388717 2010 In vivo identification of sumoylation sites by a signature tag and cysteine-targeted affinity purification.
20383146 2010 New loci associated with kidney function and chronic kidney disease.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
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