Human Gene IFT172 (ENST00000416524.2) Description and Page Index
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt F5GZ56)
RefSeq Summary (NM_015662): 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 polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.134858.1, SRR1803617.133332.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000260570.8/ ENSP00000260570.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000416524.2
Gencode Gene: ENSG00000138002.15
Transcript (Including UTRs)
   Position: hg38 chr2:27,472,012-27,489,789 Size: 17,778 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg38 chr2:27,472,175-27,485,479 Size: 13,305 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther NamesGeneReviews
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:27,472,012-27,489,789)mRNA (may differ from genome)Protein (511 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGImyGene2PubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: F5GZ56_HUMAN
DESCRIPTION: SubName: Full=Intraflagellar transport protein 172 homolog;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: IFT172
Diseases sorted by gene-association score: short-rib thoracic dysplasia 10 with or without polydactyly* (1331), retinitis pigmentosa 71* (1229), short-rib thoracic dysplasia 9 with or without polydactyly* (247), asphyxiating thoracic dystrophy* (125), joubert syndrome 1* (104), bardet-biedl syndrome* (80), retinitis pigmentosa* (42), adult lymphoma (16), bone lymphoma (11), cleft lip/palate (5), cranioectodermal dysplasia 1 (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.16 RPKM in Testis
Total median expression: 349.67 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -97.80283-0.346 Picture PostScript Text
3' UTR -46.77163-0.287 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

ModBase Predicted Comparative 3D Structure on F5GZ56
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  AL110218 - Homo sapiens mRNA; cDNA DKFZp434A163 (from clone DKFZp434A163).
BC137126 - Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas), mRNA (cDNA clone MGC:168746 IMAGE:9021123), complete cds.
BC144491 - Homo sapiens cDNA clone IMAGE:9053018, containing frame-shift errors.
AB384576 - Synthetic construct DNA, clone: pF1KA1179, Homo sapiens IFT172 gene for selective LIM binding factor homolog, complete cds, without stop codon, in Flexi system.
AK055826 - Homo sapiens cDNA FLJ31264 fis, clone KIDNE2006014, highly similar to Homo sapiens selective LIM binding factor, rat homolog (SLB), mRNA.
BC142675 - Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas), mRNA (cDNA clone IMAGE:40148197), complete cds.
BC142729 - Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas), mRNA (cDNA clone IMAGE:40148960), complete cds.
AK299576 - Homo sapiens cDNA FLJ54380 complete cds, highly similar to Homo sapiens selective LIM binding factor, rat homolog (SLB), mRNA.
AK310417 - Homo sapiens cDNA, FLJ17459.
JD409924 - Sequence 390948 from Patent EP1572962.
AK304658 - Homo sapiens cDNA FLJ58977 complete cds, highly similar to Homo sapiens selective LIM binding factor, rat homolog (SLB), mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: AK299576, F5GZ56, F5GZ56_HUMAN, uc010yls.1, uc010yls.2, uc010yls.3
UCSC ID: uc010yls.3
RefSeq Accession: NM_015662
Protein: F5GZ56

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene IFT172:
joubert (Joubert Syndrome)
nephron-ov (Nephronophthisis)
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.