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Aliases for IFT140 Gene

Aliases for IFT140 Gene

  • Intraflagellar Transport 140 2 3 5
  • WD And Tetratricopeptide Repeats Protein 2 3 4
  • WDTC2 3 4
  • 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
  • KIAA0590 4
  • MZSDS 3
  • SRTD9 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 Retinitis Pigmentosa. Among its related pathways are Signaling by GPCR and Intraflagellar transport. GO annotations related to this gene include binding.

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

Enhancers for IFT140 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around IFT140 on UCSC Golden Path with GeneCards custom track

Promoters for IFT140 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

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

Genes around IFT140 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT140 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for IFT140 Gene

  • Ubiquitination at Lys 171 and Lys 877
  • Modification sites at PhosphoSitePlus

Other Protein References for IFT140 Gene

No data available for DME Specific Peptides for IFT140 Gene

Domains & Families 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 --
genes like me logo Genes that share ontologies with IFT140: view
genes like me logo Genes that share phenotypes with IFT140: view

Human Phenotype Ontology for IFT140 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFT140 Gene

MGI Knock Outs for IFT140:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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:0001750 photoreceptor outer segment IEA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 23418020
GO:0005929 cilium IEA --
GO:0005930 axoneme IEA,ISS --
genes like me logo Genes that share ontologies with IFT140: view

Pathways & Interactions for IFT140 Gene

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

Gene Ontology (GO) - Biological Process for IFT140 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007368 determination of left/right symmetry IEA --
GO:0007507 heart development IEA --
GO:0008589 regulation of smoothened signaling pathway IEA --
GO:0021532 neural tube patterning IEA --
GO:0035108 limb morphogenesis IEA --
genes like me logo Genes that share ontologies with IFT140: view

No data available for SIGNOR curated interactions for IFT140 Gene

Drugs & Compounds for IFT140 Gene

No Compound Related Data Available

Transcripts for IFT140 Gene

Unigene Clusters for IFT140 Gene

Intraflagellar transport 140 homolog (Chlamydomonas):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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 from HIPED for IFT140 Gene

This gene is overexpressed in Adrenal (47.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IFT140 Gene

Protein tissue co-expression partners for IFT140 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IFT140 Gene:


SOURCE GeneReport for Unigene cluster for IFT140 Gene:

genes like me logo Genes that share expression patterns with IFT140: view

Primer 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 34
  • 83.28 (n)
  • 80.01 (a)
IFT140 35
  • 79 (a)
(Mus musculus)
Mammalia Ift140 34
  • 82.79 (n)
  • 81.74 (a)
Ift140 16
Ift140 35
  • 82 (a)
(Pan troglodytes)
Mammalia IFT140 34
  • 98.72 (n)
  • 98.29 (a)
IFT140 35
  • 99 (a)
(Rattus norvegicus)
Mammalia Ift140 34
  • 82.82 (n)
  • 81.86 (a)
(Canis familiaris)
Mammalia -- 35
  • 79 (a)
-- 35
  • 74 (a)
-- 35
  • 63 (a)
(Monodelphis domestica)
Mammalia IFT140 35
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 61 (a)
-- 35
  • 60 (a)
-- 35
  • 73 (a)
-- 35
  • 49 (a)
-- 35
  • 86 (a)
-- 35
  • 63 (a)
-- 35
  • 85 (a)
(Gallus gallus)
Aves IFT140 34
  • 71.3 (n)
  • 73.09 (a)
IFT140 35
  • 70 (a)
(Anolis carolinensis)
Reptilia IFT140 35
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ift140 34
  • 67.04 (n)
  • 64.89 (a)
(Danio rerio)
Actinopterygii ift140 34
  • 61.77 (n)
  • 59.4 (a)
ift140 35
  • 58 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000686 34
  • 51.98 (n)
  • 38.88 (a)
fruit fly
(Drosophila melanogaster)
Insecta rempA 34
  • 49.47 (n)
  • 37.67 (a)
rempA 35
  • 33 (a)
(Caenorhabditis elegans)
Secernentea che-11 34
  • 43.75 (n)
  • 33.36 (a)
che-11 35
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 60 (a)
-- 35
  • 35 (a)
-- 35
  • 53 (a)
Species where no ortholog for IFT140 was found in the sources mined by GeneCards:
  • 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
rs35588860 - 1,592,316(-) CAGGG(A/C)CCTGG reference, missense
rs4786350 - 1,587,999(+) CCCGG(C/G/T)GGCCG upstream-variant-2KB, reference, missense
rs35404373 - 1,587,996(-) CCGCC(A/C/G)GGCAG upstream-variant-2KB, reference, missense
rs34762152 - 1,584,384(-) ACAGC(A/C/G/T)TCATC reference, missense
rs8060532 - 1,584,224(+) TGGTG(A/G)CAAAC reference, missense

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

Variant ID Type Subtype PubMed ID
dgv4855n54 CNV loss 21841781
dgv4856n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
esv2750347 CNV deletion 23290073
esv2750348 CNV deletion 23290073
esv2750349 CNV deletion 23290073
esv2762143 CNV gain 21179565
esv3581928 CNV loss 25503493
nsv1051692 CNV loss 25217958
nsv1143802 CNV deletion 24896259
nsv428317 CNV gain 18775914
nsv476788 CNV novel sequence insertion 20440878
nsv827496 CNV gain 20364138
nsv833118 CNV loss 17160897
nsv952899 CNV deletion 24416366

Variation tolerance for IFT140 Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.20; 80.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IFT140 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for IFT140 Gene

MalaCards: The human disease database

(17) MalaCards diseases for IFT140 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 9 with or without polydactyly
  • renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
retinitis pigmentosa
  • retinitis pigmentosa 1
asphyxiating thoracic dystrophy
  • ataxia telangiectasia
rhyns syndrome
  • retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia
retinal degeneration, late-onset, autosomal dominant
  • late-onset retinal degeneration
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Relevant External Links for IFT140

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with IFT140: view

No data available for Genatlas 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 65
  2. 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 65
  3. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. (PMID: 22503633) Perrault I. … Rozet J.M. (Am. J. Hum. Genet. 2012) 3 4 65
  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 65
  5. 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 65

Products for IFT140 Gene

Sources for IFT140 Gene

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