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Aliases for IFT140 Gene

Aliases for IFT140 Gene

  • Intraflagellar Transport 140 2 3
  • WD And Tetratricopeptide Repeats Protein 2 3 4
  • KIAA0590 4 6
  • WDTC2 3 4
  • MZSDS 3 6
  • SRTD9 3 6
  • Intraflagellar Transport 140 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 140 Homolog 3
  • Intraflagellar Transport 140 Homolog 3
  • WD And Tetratricopeptide Repeats 2 2
  • C305C8.4 3
  • C380F5.1 3
  • Gs114 3

External Ids for IFT140 Gene

Previous HGNC Symbols for IFT140 Gene

  • WDTC2

Previous GeneCards Identifiers for IFT140 Gene

  • GC16M001503
  • GC16M001560
  • GC16M001488

Summaries for IFT140 Gene

Entrez Gene Summary for IFT140 Gene

  • This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]

GeneCards Summary for IFT140 Gene

IFT140 (Intraflagellar Transport 140) is a Protein Coding gene. Diseases associated with IFT140 include short-rib thoracic dysplasia 9 with or without polydactyly and asphyxiating thoracic dystrophy.

UniProtKB/Swiss-Prot for IFT140 Gene

  • Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT140 Gene

Genomics for IFT140 Gene

Regulatory Elements for IFT140 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for IFT140 Gene

1,510,427 bp from pter
1,612,110 bp from pter
101,684 bases
Minus strand

Genomic View for IFT140 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IFT140 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT140 Gene

Proteins for IFT140 Gene

  • Protein details for IFT140 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Intraflagellar transport protein 140 homolog
    Protein Accession:
    Secondary Accessions:
    • A2A2A8
    • D3DU75
    • O60332
    • Q9UG52

    Protein attributes for IFT140 Gene

    1462 amino acids
    Molecular mass:
    165193 Da
    Quaternary structure:
    • Component of the IFT complex A (IFT-A).
    • Sequence=BAA25516.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for IFT140 Gene


neXtProt entry for IFT140 Gene

Proteomics data for IFT140 Gene at MOPED

Post-translational modifications for IFT140 Gene

  • Ubiquitination at Lys171 and Lys877
  • Modification sites at PhosphoSitePlus

Other Protein References for IFT140 Gene

No data available for DME Specific Peptides for IFT140 Gene

Domains for IFT140 Gene

Protein Domains for IFT140 Gene

Suggested Antigen Peptide Sequences for IFT140 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 9 TPR repeats.
  • Contains 9 TPR repeats.
  • Contains 5 WD repeats.
genes like me logo Genes that share domains with IFT140: view

Function for IFT140 Gene

Molecular function for IFT140 Gene

UniProtKB/Swiss-Prot Function:
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance.

Gene Ontology (GO) - Molecular Function for IFT140 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005488 binding --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with IFT140: view
genes like me logo Genes that share phenotypes with IFT140: view

Animal Model Products

miRNA for IFT140 Gene

miRTarBase miRNAs that target IFT140

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IFT140

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for IFT140 Gene

Localization for IFT140 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT140 Gene

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

Jensen Localization Image for IFT140 Gene COMPARTMENTS Subcellular localization image for IFT140 gene
Compartment Confidence
cytoskeleton 5
cytosol 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for IFT140 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA 23418020
GO:0005929 cilium --
GO:0005930 axoneme ISS --
GO:0030991 intraciliary transport particle A IDA 20889716
GO:0032391 photoreceptor connecting cilium IEA --
genes like me logo Genes that share ontologies with IFT140: view

Pathways for IFT140 Gene

SuperPathways for IFT140 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IFT140 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0035721 intraciliary retrograde transport IBA --
GO:0042384 cilium assembly IEA --
GO:0048705 skeletal system morphogenesis IMP 22503633
GO:0060041 retina development in camera-type eye IMP 22503633
genes like me logo Genes that share ontologies with IFT140: view

No data available for Pathways by source for IFT140 Gene

Transcripts for IFT140 Gene

Unigene Clusters for IFT140 Gene

Intraflagellar transport 140 homolog (Chlamydomonas):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IFT140

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFT140 Gene

No ASD Table

Relevant External Links for IFT140 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IFT140 Gene

mRNA expression in normal human tissues for IFT140 Gene

Protein differential expression in normal tissues for IFT140 Gene

This gene is overexpressed in Adrenal (47.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IFT140 Gene

SOURCE GeneReport for Unigene cluster for IFT140 Gene Hs.389438

genes like me logo Genes that share expressions with IFT140: view

Expression partners for IFT140 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for IFT140 Gene

Orthologs for IFT140 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT140 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia IFT140 35
  • 83.28 (n)
  • 80.01 (a)
IFT140 36
  • 79 (a)
(Mus musculus)
Mammalia Ift140 35
  • 82.79 (n)
  • 81.74 (a)
Ift140 16
Ift140 36
  • 82 (a)
(Pan troglodytes)
Mammalia IFT140 35
  • 98.72 (n)
  • 98.29 (a)
IFT140 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Ift140 35
  • 82.82 (n)
  • 81.86 (a)
(Canis familiaris)
Mammalia -- 36
  • 79 (a)
-- 36
  • 74 (a)
-- 36
  • 63 (a)
(Monodelphis domestica)
Mammalia IFT140 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 61 (a)
-- 36
  • 60 (a)
-- 36
  • 73 (a)
-- 36
  • 49 (a)
-- 36
  • 86 (a)
-- 36
  • 63 (a)
-- 36
  • 85 (a)
(Gallus gallus)
Aves IFT140 35
  • 71.3 (n)
  • 73.09 (a)
IFT140 36
  • 70 (a)
(Anolis carolinensis)
Reptilia IFT140 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ift140 35
  • 67.04 (n)
  • 64.89 (a)
(Danio rerio)
Actinopterygii ift140 35
  • 61.77 (n)
  • 59.4 (a)
ift140 36
  • 58 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000686 35
  • 51.98 (n)
  • 38.88 (a)
fruit fly
(Drosophila melanogaster)
Insecta rempA 35
  • 49.47 (n)
  • 37.67 (a)
rempA 36
  • 33 (a)
(Caenorhabditis elegans)
Secernentea che-11 35
  • 43.75 (n)
  • 33.36 (a)
che-11 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
-- 36
  • 35 (a)
-- 36
  • 53 (a)
Species with no ortholog for IFT140:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 IFT140 Gene

Gene Tree for IFT140 (if available)
Gene Tree for IFT140 (if available)

Paralogs for IFT140 Gene

(1) SIMAP similar genes for IFT140 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with IFT140: view

No data available for Paralogs for IFT140 Gene

Variants for IFT140 Gene

Sequence variations from dbSNP and Humsavar for IFT140 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs722565 -- 1,573,250(-) CCGCT(C/T)CCCCT intron-variant
rs743963 -- 1,607,349(+) CAAAC(A/T)ATATG intron-variant
rs743964 -- 1,607,852(-) CCTGG(A/G)CAACA intron-variant
rs763152 -- 1,608,055(+) GTCTT(C/T)TACCT intron-variant
rs763153 -- 1,608,085(+) AGACA(C/G)AAGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IFT140 Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2505n71 CNV Loss 21882294
nsv904950 CNV Loss 21882294
nsv904954 CNV Loss 21882294
dgv2527n71 CNV Loss 21882294
dgv2531n71 CNV Loss 21882294
nsv905008 CNV Loss 21882294
dgv2536n71 CNV Loss 21882294
nsv905015 CNV Loss 21882294
dgv2537n71 CNV Loss 21882294
nsv905017 CNV Loss 21882294
nsv905018 CNV Loss 21882294
nsv905020 CNV Gain 21882294
esv2750347 CNV Deletion 23290073
nsv428317 CNV Gain 18775914
nsv833118 CNV Loss 17160897
nsv827496 CNV Gain 20364138
esv2750348 CNV Deletion 23290073
esv2750349 CNV Deletion 23290073
nsv905021 CNV Gain 21882294

Relevant External Links for IFT140 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT140 Gene

Disorders for IFT140 Gene

(1) OMIM Diseases for IFT140 Gene (614620)


  • Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]: 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. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis. {ECO:0000269 PubMed:22503633, ECO:0000269 PubMed:23418020}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for IFT140 Gene

genes like me logo Genes that share disorders with IFT140: view

No data available for Novoseek inferred disease relationships , Genatlas and External Links for IFT140 Gene

Publications for IFT140 Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4
  2. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels R.J. … Higgs D.R. (Hum. Mol. Genet. 2001) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. (PMID: 20889716) Mukhopadhyay S. … Jackson P.K. (Genes Dev. 2010) 3 4
  5. Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. (PMID: 23418020) Schmidts M. … Bergmann C. (Hum. Mutat. 2013) 3 4

Products for IFT140 Gene

Sources for IFT140 Gene

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