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Ift80 Gene Detail
Summary
  • Symbol
    Ift80
  • Name
    intraflagellar transport 80
  • Synonyms
    4921524P20Rik, Wdr56
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915509
    NCBI Gene: 68259
  • Gene Overview
    MyGene.info: IFT80
Location & Maps
more
  • Sequence Map
    Chr3:68892499-69004559 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      112061 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 32.07 cM, cytoband E2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    IFT80, intraflagellar transport 80
  • Vertebrate Orthologs
    10
  • Human Ortholog
    IFT80, intraflagellar transport 80
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATD2, SRTD2, WDR56
  • Links
    NCBI Gene ID: 57560
    neXtProt AC: NX_Q9P2H3

  • Chr Location
    3q25.33; chr3:160256986-160399532 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 12253
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: IFT80
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Ift80 mouse models; 1 with human IFT80 associations

Human Disease Mouse Models
       Short-Rib Thoracic Dysplasia 2 with or without Polydactyly; SRTD2   OMIM: 611263 View 1 model
       Short-Rib Thoracic Dysplasia 3 with or without Polydactyly; SRTD3   OMIM: 613091 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    21 phenotypes from 3 alleles in 3 genetic backgrounds
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    30
  • Chemically induced (other)
    1
  • Gene trapped
    23
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Ift80
  • Incidental Mutations
Mice homozygous for a hypomorphic gene trap allele exhibit partial perinatal lethality, decreased body size, postnatal growth retardation, shortened long bones, constricted thoracic cage, periaxial polydactyly, and small cranium.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024494 VEGA Gene Model | MGI Sequence Detail 112061 C57BL/6J ±  kb
transcript OTTMUST00000060100 VEGA | MGI Sequence Detail 4063 Not Applicable  
polypeptide OTTMUSP00000029301 VEGA | MGI Sequence Detail 777 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    387 from dbSNP Build 142
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000008938 intraflagellar transport protein 80
  • InterPro Domains
    IPR011047 Quinoprotein alcohol dehydrogenase-like superfamily
    IPR001680 WD40 repeat
    IPR017986 WD40-repeat-containing domain
    IPR015943 WD40/YVTN repeat-like-containing domain
Molecular
Reagents
less
  • All nucleic 65
    cDNA 65

    Microarray probesets 6
References
more
  • Summaries
    All 41
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 11
    Phenotypes 13
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:226948 Omori Y, et al., Identification of G Protein-Coupled Receptors (GPCRs) in Primary Cilia and Their Possible Involvement in Body Weight Control. PLoS One. 2015;10(6):e0128422

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
09/27/2016
MGI 6.05
The Jackson Laboratory