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Aliases for IFT80 Gene

Aliases for IFT80 Gene

  • Intraflagellar Transport 80 2 3
  • WDR56 3 4 6
  • WD Repeat-Containing Protein 56 3 4
  • WD Repeat Domain 56 2 3
  • KIAA1374 4 6
  • SRTD2 3 6
  • ATD2 3 6
  • Intraflagellar Transport 80 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 80 Homolog 3
  • Intraflagellar Transport 80 Homolog 3

External Ids for IFT80 Gene

Previous HGNC Symbols for IFT80 Gene

  • WDR56

Previous GeneCards Identifiers for IFT80 Gene

  • GC03M161459
  • GC03M159945
  • GC03M159974
  • GC03M157373

Summaries for IFT80 Gene

Entrez Gene Summary for IFT80 Gene

  • The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

GeneCards Summary for IFT80 Gene

IFT80 (Intraflagellar Transport 80) is a Protein Coding gene. Diseases associated with IFT80 include short-rib thoracic dysplasia 2 with or without polydactyly and asphyxiating thoracic dystrophy. An important paralog of this gene is ENSG00000248710.

UniProtKB/Swiss-Prot for IFT80 Gene

  • Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.

Gene Wiki entry for IFT80 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT80 Gene

Genomics for IFT80 Gene

Regulatory Elements for IFT80 Gene

Genomic Location for IFT80 Gene

Start:
160,256,986 bp from pter
End:
160,399,880 bp from pter
Size:
142,895 bases
Orientation:
Minus strand

Genomic View for IFT80 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IFT80 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT80 Gene

Proteins for IFT80 Gene

  • Protein details for IFT80 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2H3-IFT80_HUMAN
    Recommended name:
    Intraflagellar transport protein 80 homolog
    Protein Accession:
    Q9P2H3
    Secondary Accessions:
    • B4E0K1
    • C9J8I0
    • Q3MJC4
    • Q86YF4
    • Q9UIX1

    Protein attributes for IFT80 Gene

    Size:
    777 amino acids
    Molecular mass:
    88035 Da
    Quaternary structure:
    • Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT88 (By similarity).

    Alternative splice isoforms for IFT80 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFT80 Gene

Proteomics data for IFT80 Gene at MOPED

Post-translational modifications for IFT80 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IFT80 Gene

Domains for IFT80 Gene

Gene Families for IFT80 Gene

HGNC:
  • IFT :Intraflagellar transport homologs
  • WDR :WD repeat domain containing

Protein Domains for IFT80 Gene

Suggested Antigen Peptide Sequences for IFT80 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P2H3

UniProtKB/Swiss-Prot:

IFT80_HUMAN :
  • Q9P2H3
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with IFT80: view

Function for IFT80 Gene

Molecular function for IFT80 Gene

UniProtKB/Swiss-Prot Function: Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.

Gene Ontology (GO) - Molecular Function for IFT80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with IFT80: view
genes like me logo Genes that share phenotypes with IFT80: view

miRNA for IFT80 Gene

miRTarBase miRNAs that target IFT80

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for IFT80 Gene

Localization for IFT80 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT80 Gene

Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Note=Basal body and ciliary axoneme. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IFT80 Gene COMPARTMENTS Subcellular localization image for IFT80 gene
Compartment Confidence
cytosol 3
cytoskeleton 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for IFT80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IBA --
GO:0005929 cilium IBA --
GO:0030992 intraciliary transport particle B ISS --
GO:0072372 primary cilium TAS --
genes like me logo Genes that share ontologies with IFT80: view

Pathways for IFT80 Gene

SuperPathways for IFT80 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IFT80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation --
GO:0002062 chondrocyte differentiation --
GO:0006996 organelle organization TAS --
GO:0007224 smoothened signaling pathway --
GO:0042384 cilium assembly IBA --
genes like me logo Genes that share ontologies with IFT80: view

No data available for Pathways by source for IFT80 Gene

Transcripts for IFT80 Gene

Unigene Clusters for IFT80 Gene

Intraflagellar transport 80 homolog (Chlamydomonas):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IFT80 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1: -
SP2:

Relevant External Links for IFT80 Gene

GeneLoc Exon Structure for
IFT80
ECgene alternative splicing isoforms for
IFT80

Expression for IFT80 Gene

mRNA expression in normal human tissues for IFT80 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for IFT80 Gene

SOURCE GeneReport for Unigene cluster for IFT80 Gene Hs.478095

mRNA Expression by UniProt/SwissProt for IFT80 Gene

Q9P2H3-IFT80_HUMAN
Tissue specificity: Isoform IFT80-L is widely expressed.
genes like me logo Genes that share expressions with IFT80: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for IFT80 Gene

Orthologs for IFT80 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT80 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT80 35
  • 99.14 (n)
  • 99.35 (a)
IFT80 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IFT80 35
  • 93.34 (n)
  • 96.01 (a)
IFT80 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IFT80 35
  • 94.24 (n)
  • 96.65 (a)
IFT80 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ift80 35
  • 88.23 (n)
  • 94.72 (a)
Ift80 16
Ift80 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
ManyToMany
-- 36
  • 88 (a)
ManyToMany
-- 36
  • 85 (a)
ManyToMany
-- 36
  • 97 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Ift80 35
  • 89.02 (n)
  • 94.34 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 82 (a)
OneToMany
IFT80 35
  • 80.1 (n)
  • 85.56 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 84 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia kiaa1374-A-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ift80 35
  • 75.88 (n)
  • 78.82 (a)
Str.15257 35
zebrafish
(Danio rerio)
Actinopterygii ift80 35
  • 68.24 (n)
  • 74.93 (a)
ift80 36
  • 73 (a)
OneToMany
wufj11a06 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010190 35
  • 48.07 (n)
  • 38.04 (a)
fruit fly
(Drosophila melanogaster)
Insecta Oseg5 35
  • 48.04 (n)
  • 37.57 (a)
Oseg5 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea che-2 35
  • 52.07 (n)
  • 41.27 (a)
che-2 36
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToMany
Species with no ortholog for IFT80:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IFT80 Gene

ENSEMBL:
Gene Tree for IFT80 (if available)
TreeFam:
Gene Tree for IFT80 (if available)

Paralogs for IFT80 Gene

Paralogs for IFT80 Gene

Pseudogenes.org Pseudogenes for IFT80 Gene

genes like me logo Genes that share paralogs with IFT80: view

Variants for IFT80 Gene

Sequence variations from dbSNP and Humsavar for IFT80 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs14650 -- 160,257,115(+) ACACA(C/T)ACACA utr-variant-3-prime
rs188968 -- 160,397,168(+) ACCCC(A/C)AAATG intron-variant
rs869467 -- 160,329,518(+) ACCAC(C/T)CTCCA intron-variant
rs869468 -- 160,329,652(+) tcccc(C/T)agttt intron-variant
rs949639 -- 160,282,881(+) GCTGA(C/G)AAACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IFT80 Gene

Variant ID Type Subtype PubMed ID
nsv877699 CNV Gain 21882294
nsv822305 CNV Gain 20364138

Relevant External Links for IFT80 Gene

HapMap Linkage Disequilibrium report
IFT80
Human Gene Mutation Database (HGMD)
IFT80

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT80 Gene

Disorders for IFT80 Gene

(1) OMIM Diseases for IFT80 Gene (611177)

UniProtKB/Swiss-Prot

IFT80_HUMAN
  • Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a trident appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:17468754}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with IFT80: view

Publications for IFT80 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 3 4
  4. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. (PMID: 17468754) Beales P.L. … Scambler P.J. (Nat. Genet. 2007) 3 4
  5. Identification and characterization of a long isoform of human IFT80, IFT80-L. (PMID: 18601909) Huang W. … Li M.D. (Biochem. Biophys. Res. Commun. 2008) 3 4

Products for IFT80 Gene

Sources for IFT80 Gene

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