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Aliases for IFT43 Gene

Aliases for IFT43 Gene

  • Intraflagellar Transport 43 2 3 5
  • C14orf179 3 4
  • Intraflagellar Transport 43 Homolog (Chlamydomonas) 2
  • Chromosome 14 Open Reading Frame 179 2
  • Intraflagellar Transport 43 Homolog 3
  • IFT Complex A Subunit 3
  • CED3 3

External Ids for IFT43 Gene

Previous HGNC Symbols for IFT43 Gene

  • C14orf179

Previous GeneCards Identifiers for IFT43 Gene

  • GC14P076453
  • GC14P076368

Summaries for IFT43 Gene

Entrez Gene Summary for IFT43 Gene

  • This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for IFT43 Gene

IFT43 (Intraflagellar Transport 43) is a Protein Coding gene. Diseases associated with IFT43 include Cranioectodermal Dysplasia 3 and Cranioectodermal Dysplasia 1. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport.

UniProtKB/Swiss-Prot for IFT43 Gene

  • Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the ciliary tip to the base.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT43 Gene

Genomics for IFT43 Gene

Regulatory Elements for IFT43 Gene

Enhancers for IFT43 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IFT43 on UCSC Golden Path with GeneCards custom track

Genomic Location for IFT43 Gene

75,902,136 bp from pter
76,084,585 bp from pter
182,450 bases
Plus strand

Genomic View for IFT43 Gene

Genes around IFT43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT43 Gene

Proteins for IFT43 Gene

  • Protein details for IFT43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Intraflagellar transport protein 43 homolog
    Protein Accession:
    Secondary Accessions:
    • B3KPT6
    • B4DZI9
    • G3V385
    • O95418
    • Q9ULA9

    Protein attributes for IFT43 Gene

    208 amino acids
    Molecular mass:
    23529 Da
    Quaternary structure:
    • Component of the IFT complex A (IFT-A) complex (Probable). Interacts with WDR35/IFT121.

    Alternative splice isoforms for IFT43 Gene


neXtProt entry for IFT43 Gene

Proteomics data for IFT43 Gene at MOPED

Post-translational modifications for IFT43 Gene

  • Ubiquitination at Lys 159
  • Modification sites at PhosphoSitePlus

Other Protein References for IFT43 Gene

No data available for DME Specific Peptides for IFT43 Gene

Domains & Families for IFT43 Gene

Gene Families for IFT43 Gene

Protein Domains for IFT43 Gene


Suggested Antigen Peptide Sequences for IFT43 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the IFT43 family.
  • Belongs to the IFT43 family.
genes like me logo Genes that share domains with IFT43: view

Function for IFT43 Gene

Molecular function for IFT43 Gene

UniProtKB/Swiss-Prot Function:
Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the ciliary tip to the base.

Phenotypes for IFT43 Gene

genes like me logo Genes that share phenotypes with IFT43: view

Human Phenotype Ontology for IFT43 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IFT43 Gene

Localization for IFT43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT43 Gene

Cytoplasm, cytoskeleton. Note=Associated with microtubules.

Subcellular locations from

Jensen Localization Image for IFT43 Gene COMPARTMENTS Subcellular localization image for IFT43 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
mitochondrion 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for IFT43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005815 microtubule organizing center IDA --
GO:0097542 ciliary tip TAS --
genes like me logo Genes that share ontologies with IFT43: view

Pathways & Interactions for IFT43 Gene

genes like me logo Genes that share pathways with IFT43: view

Pathways by source for IFT43 Gene

Gene Ontology (GO) - Biological Process for IFT43 Gene


No data available for SIGNOR curated interactions for IFT43 Gene

Drugs & Compounds for IFT43 Gene

No Compound Related Data Available

Transcripts for IFT43 Gene

Unigene Clusters for IFT43 Gene

Intraflagellar transport 43 homolog (Chlamydomonas):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IFT43 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d ^ 12
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - - -
SP8: - - - - -
SP9: - - - - - - - - -
SP10: - - - -
SP11: - -

Relevant External Links for IFT43 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IFT43 Gene

mRNA expression in normal human tissues for IFT43 Gene

Protein differential expression in normal tissues from HIPED for IFT43 Gene

This gene is overexpressed in Adrenal (43.0), Testis (9.4), and Ovary (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for IFT43 Gene

SOURCE GeneReport for Unigene cluster for IFT43 Gene Hs.532626

genes like me logo Genes that share expression patterns with IFT43: view

Protein tissue co-expression partners for IFT43 Gene

- Elite partner

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 IFT43 Gene

Orthologs for IFT43 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT43 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia IFT43 35
  • 78.1 (n)
  • 72.95 (a)
IFT43 36
  • 73 (a)
(Canis familiaris)
Mammalia IFT43 35
  • 76.38 (n)
  • 69.9 (a)
IFT43 36
  • 68 (a)
(Mus musculus)
Mammalia Ift43 35
  • 75.99 (n)
  • 73.06 (a)
Ift43 16
Ift43 36
  • 75 (a)
(Pan troglodytes)
Mammalia IFT43 35
  • 99.22 (n)
  • 99.53 (a)
IFT43 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Ift43 35
  • 76.27 (n)
  • 73.3 (a)
(Monodelphis domestica)
Mammalia IFT43 36
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia IFT43 36
  • 65 (a)
(Gallus gallus)
Aves IFT43 35
  • 66.85 (n)
  • 64.04 (a)
IFT43 36
  • 54 (a)
(Anolis carolinensis)
Reptilia IFT43 36
  • 50 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ift43 35
  • 59.74 (n)
  • 57.87 (a)
(Danio rerio)
Actinopterygii IFT43 36
  • 64 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5780 36
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
Species with no ortholog for IFT43:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for IFT43 Gene

Gene Tree for IFT43 (if available)
Gene Tree for IFT43 (if available)

Paralogs for IFT43 Gene

No data available for Paralogs for IFT43 Gene

Variants for IFT43 Gene

Sequence variations from dbSNP and Humsavar for IFT43 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs2302858 - 76,059,332(+) TTTCC(A/G)CCTCA intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense
rs7140892 -- 76,076,513(+) GATTT(A/G)TACTC intron-variant
rs7141194 -- 76,054,724(+) CAGGG(G/T)CCCTG intron-variant
rs7142059 -- 75,991,738(+) TGTGC(A/G)TTACC intron-variant
rs7143301 -- 76,025,224(+) GCATA(A/T)CTtga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IFT43 Gene

Variant ID Type Subtype PubMed ID
nsv902101 CNV Loss 21882294
nsv1360 CNV Loss 18451855
nsv7256 OTHER Inversion 18451855
esv2675014 CNV Deletion 23128226

Variation tolerance for IFT43 Gene

Residual Variation Intolerance Score: 72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.16; 75.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IFT43 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT43 Gene

Disorders for IFT43 Gene

MalaCards: The human disease database

(3) MalaCards diseases for IFT43 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cranioectodermal dysplasia 3
  • sensenbrenner syndrome 3
cranioectodermal dysplasia 1
  • sensenbrenner syndrome
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search IFT43 in MalaCards View complete list of genes associated with diseases


  • Cranioectodermal dysplasia 3 (CED3) [MIM:614099]: A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. {ECO:0000269 PubMed:21378380}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IFT43

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with IFT43: view

No data available for Genatlas for IFT43 Gene

Publications for IFT43 Gene

  1. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. (PMID: 21378380) Arts H.H. … Roepman R. (J. Med. Genet. 2011) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations. (PMID: 24236485) Cornejo-GarcA-a J.A. … Lee M.T. (Pharmacogenomics 2013) 3
  5. 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

Products for IFT43 Gene

Sources for IFT43 Gene