Property Summary

NCBI Gene PubMed Count 13
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)

  Ortholog (14)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG
Pig OMA EggNOG
Opossum EggNOG Inparanoid
Platypus OMA EggNOG
Chicken OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA EggNOG Inparanoid
C. elegans OMA EggNOG Inparanoid
Fruitfly OMA Inparanoid

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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