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Ift172
Gene Detail
 Symbol
Name
ID
Ift172
intraflagellar transport 172
MGI:2682064
Synonyms 4930553F24Rik, avc1, wim
Feature Type protein coding gene
Genetic Map
Chromosome 5
17.27 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr5:31253280-31291114 bp, - strand
From Ensembl annotation of GRCm38

  37835 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:15202  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Ift172

Human
homologs
Human Homolog IFT172, intraflagellar transport 172
NCBI Gene ID 26160
neXtProt AC  NX_Q9UG01
Human Synonyms  NPHP17, osm-1, SLB, SRTD10, wim
Human Chr (Location)  2p23.3; chr2:27444373-27489784 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human IFT172
Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Chemically induced (ENU)(2) Gene trapped(2) Radiation induced(2) Targeted(5)
Genomic Mutations involving Ift172 (2)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for disruptions in this gene display embryonic lethality during organogenesis, neural tube defects, and developmental patterning abnormalities. Mice homozygous for a conditional allele activated in the early limb bud exhibit polydactyly and short limbs.
 
Human Diseases Modeled Using Mouse Ift172 (2)    Alleles Annotated to Human Diseases(2)   
Interactions
Ift172 interacts with 45 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (49 annotations)
Process bone development, brain development, ...
Component axoneme, cell projection, ...
Function protein binding, transcription factor binding
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (14)    Tissues (2)    Images (10)
Theiler Stages: 18, 23
Assay TypeResults
RNA in situ 10
Western blot 4
cDNA source data(77)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(77) cDNA(77)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000038564 (Evidence)
Entrez Gene67661 (Evidence)
UniGene293023
DFCITC1576418, TC1587450
DoTSDT.110687661, DT.531784, DT.94182892, DT.97333550
Consensus CDS ProjectCCDS39054.1
International Mouse Knockout Project StatusIft172
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000038564 Ensembl Gene Model | MGI Sequence Detail 37835 C57BL/6J ±  kb
transcript ENSMUST00000041565 Ensembl | MGI Sequence Detail 5407 Not Applicable 
polypeptide ENSMUSP00000049335 Ensembl | MGI Sequence Detail 1749 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(7) UniProt(1)
Polymorphisms SNPs within 2kb(129 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016024 Armadillo-type fold
InterPro IPR011042 Six-bladed beta-propeller, TolB-like
InterPro IPR001680 WD40 repeat
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000008933 intraflagellar transport protein 172
References (Earliest) J:65500 Pazour GJ, et al., Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. J Cell Biol. 2000 Oct 30;151(3):709-18
(Latest) J:196508 Bay SN, et al., What are those cilia doing in the neural tube?. Cilia. 2012;1(1):19
All references(52)
Disease annotation references (2)
Other
accession IDs
MGI:1914911, MGI:4821836

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory