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Aliases for IFT80 Gene

Aliases for IFT80 Gene

  • Intraflagellar Transport 80 2 3
  • WD Repeat-Containing Protein 56 3 4
  • WD Repeat Domain 56 2 3
  • WDR56 3 4
  • Intraflagellar Transport 80 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport 80 Homolog 3
  • KIAA1374 4
  • SRTD2 3
  • ATD2 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. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. 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

160,256,986 bp from pter
160,399,880 bp from pter
142,895 bases
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:
    Recommended name:
    Intraflagellar transport protein 80 homolog
    Protein Accession:
    Secondary Accessions:
    • B4E0K1
    • C9J8I0
    • Q3MJC4
    • Q86YF4
    • Q9UIX1

    Protein attributes for IFT80 Gene

    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


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 & Families for IFT80 Gene

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



  • Contains 7 WD repeats.
  • 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

Animal Model Products

miRNA for IFT80 Gene

miRTarBase miRNAs that target IFT80

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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

Jensen Localization Image for IFT80 Gene COMPARTMENTS Subcellular localization image for IFT80 gene
Compartment Confidence
cytoskeleton 3

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 & Interactions for IFT80 Gene

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

Pathways by source for IFT80 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for IFT80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEA --
GO:0002062 chondrocyte differentiation IEA --
GO:0006996 organelle organization TAS --
GO:0007224 smoothened signaling pathway IEA --
GO:0035058 nonmotile primary cilium assembly IEA --
genes like me logo Genes that share ontologies with IFT80: view

No data available for SIGNOR curated interactions for IFT80 Gene

Drugs & Compounds for IFT80 Gene

No Compound Related Data Available

Transcripts for IFT80 Gene

Unigene Clusters for IFT80 Gene

Intraflagellar transport 80 homolog (Chlamydomonas):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IFT80

Flow Cytometry Products

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: -

Relevant External Links for IFT80 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IFT80 Gene

mRNA expression in normal human tissues for IFT80 Gene

Protein differential expression in normal tissues from HIPED for IFT80 Gene

This gene is overexpressed in Testis (49.8) and Fetal ovary (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

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

Protein tissue co-expression partners for IFT80 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
(Bos Taurus)
Mammalia IFT80 35
  • 93.34 (n)
  • 96.01 (a)
IFT80 36
  • 86 (a)
(Canis familiaris)
Mammalia IFT80 35
  • 94.24 (n)
  • 96.65 (a)
IFT80 36
  • 96 (a)
(Mus musculus)
Mammalia Ift80 35
  • 88.23 (n)
  • 94.72 (a)
Ift80 16
Ift80 36
  • 94 (a)
(Pan troglodytes)
Mammalia IFT80 35
  • 99.14 (n)
  • 99.35 (a)
IFT80 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Ift80 35
  • 89.02 (n)
  • 94.34 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
-- 36
  • 88 (a)
-- 36
  • 85 (a)
-- 36
  • 97 (a)
(Gallus gallus)
Aves IFT80 35
  • 80.1 (n)
  • 85.56 (a)
-- 36
  • 82 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ift80 35
  • 75.88 (n)
  • 78.82 (a)
Str.15257 35
African clawed frog
(Xenopus laevis)
Amphibia kiaa1374-A-prov 35
(Danio rerio)
Actinopterygii ift80 35
  • 68.24 (n)
  • 74.93 (a)
wufj11a06 35
ift80 36
  • 73 (a)
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)
(Caenorhabditis elegans)
Secernentea che-2 35
  • 52.07 (n)
  • 41.27 (a)
che-2 36
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
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

Gene Tree for IFT80 (if available)
Gene Tree for IFT80 (if available)

Paralogs for IFT80 Gene

Paralogs for IFT80 Gene 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
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
rs991876 -- 160,371,363(+) TCCAC(C/G)CTCTG intron-variant
rs1114198 -- 160,374,369(-) TACAG(G/T)GGCAC 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

Variation tolerance for IFT80 Gene

Residual Variation Intolerance Score: 50.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.39; 81.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IFT80 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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

Disorders for IFT80 Gene

MalaCards: The human disease database

(6) MalaCards diseases for IFT80 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 2 with or without polydactyly
  • asphyxiating thoracic dystrophy 2
asphyxiating thoracic dystrophy
  • jeune syndrome
aspiration pneumonitis
  • pneumonitis due to inhalation of food
short-rib thoracic dysplasia 3 with or without polydactyly
  • saldino-noonan syndrome
cranioectodermal dysplasia 1
  • sensenbrenner syndrome
- elite association
Search IFT80 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for IFT80

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with IFT80: view

No data available for Genatlas for IFT80 Gene

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 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. (PMID: 19648123) Cavalcanti D.P. … Cormier-Daire V. (J. Med. Genet. 2011) 67
  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) 67

Products for IFT80 Gene

Sources for IFT80 Gene

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