Free for academic non-profit institutions. Other users need a Commercial license

Aliases for IFT74 Gene

Aliases for IFT74 Gene

  • Intraflagellar Transport 74 2 3 5
  • Coiled-Coil Domain-Containing Protein 2 3 4
  • Capillary Morphogenesis Gene 1 Protein 3 4
  • Capillary Morphogenesis Protein 1 2 3
  • Coiled-Coil Domain Containing 2 2 3
  • CCDC2 3 4
  • CMG-1 3 4
  • CMG1 3 4
  • Intraflagellar Transport 74 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 74 Homolog 3
  • Intraflagellar Transport 74 Homolog 3
  • BBS20 3

External Ids for IFT74 Gene

Previous HGNC Symbols for IFT74 Gene

  • CCDC2

Summaries for IFT74 Gene

Entrez Gene Summary for IFT74 Gene

  • This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]

GeneCards Summary for IFT74 Gene

IFT74 (Intraflagellar Transport 74) is a Protein Coding gene. Diseases associated with IFT74 include Bardet-Biedl Syndrome 20 and Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. Gene Ontology (GO) annotations related to this gene include chromatin binding and beta-tubulin binding.

UniProtKB/Swiss-Prot for IFT74 Gene

  • Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds beta-tubulin via its basic region. Required for ciliogenesis.

Gene Wiki entry for IFT74 Gene

Additional gene information for IFT74 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT74 Gene

Genomics for IFT74 Gene

GeneHancer (GH) Regulatory Elements for IFT74 Gene

Promoters and enhancers for IFT74 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J026953 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 685.2 +8.7 8730 3.9 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF207 IFT74 IFT74-AS1 CAAP1 LRRC19 PLAA
GH09J026945 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 665.3 -0.2 -206 3 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 YY1 E2F8 ZNF207 IFT74 PLAA CAAP1 RN7SL100P
GH09J026889 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 45.5 -55.1 -55120 3.8 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 IRF4 GC09P026892 CAAP1 IFT74 LRRC19 PLAA ENSG00000232466
GH09J027108 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.5 +163.8 163841 4.3 POLR2A JUN RAD21 NR2F2 TEK IFT74 LRRC19 PIR32540
GH09J027351 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 23.7 +404.9 404914 1.6 PKNOX1 IRF4 EED ETV6 BCLAF1 IKZF2 RUNX3 SRF ZNF687 DPF2 IFT74 MOB3B IFNK C9orf72 PLAA GC09M027375 EQTN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IFT74 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IFT74 gene promoter:
  • AP-2alpha
  • AP-2gamma
  • AP-2alphaA
  • AP-2beta

Genomic Locations for IFT74 Gene

Genomic Locations for IFT74 Gene
119,091 bases
Plus strand
115,895 bases
Plus strand

Genomic View for IFT74 Gene

Genes around IFT74 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT74 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT74 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT74 Gene

Proteins for IFT74 Gene

  • Protein details for IFT74 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Intraflagellar transport protein 74 homolog
    Protein Accession:
    Secondary Accessions:
    • Q3B789
    • Q5VY34
    • Q6PGQ8
    • Q9H643
    • Q9H8G7

    Protein attributes for IFT74 Gene

    600 amino acids
    Molecular mass:
    69239 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 (PubMed:23990561). Interacts with IFT81; the interaction is direct: within the IFT complex B, IFT74 and IFT81 mediate the transport of tubulin within the cilium (PubMed:15955805, PubMed:23990561). Interacts (via basic region) with beta-tubulin (via acidic region); interaction is direct (PubMed:23990561). Interacts with ARL13B and IFT88 (PubMed:24339792). Interacts (via the IFT74/IFT81 heterodimer) with RABL2B (PubMed:28428259, PubMed:28625565).
    • Sequence=BAB14650.1; Type=Erroneous termination; Positions=159; Note=Translated as Lys.; Evidence={ECO:0000305}; Sequence=BAB15423.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for IFT74 Gene


neXtProt entry for IFT74 Gene

Post-translational modifications for IFT74 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IFT74 Gene

Domains & Families for IFT74 Gene

Gene Families for IFT74 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for IFT74 Gene


Suggested Antigen Peptide Sequences for IFT74 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the IFT74 family.
  • Belongs to the IFT74 family.
genes like me logo Genes that share domains with IFT74: view

Function for IFT74 Gene

Molecular function for IFT74 Gene

UniProtKB/Swiss-Prot Function:
Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds beta-tubulin via its basic region. Required for ciliogenesis.

Phenotypes From GWAS Catalog for IFT74 Gene

Gene Ontology (GO) - Molecular Function for IFT74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 27173435
GO:0048487 beta-tubulin binding IDA 23990561
genes like me logo Genes that share ontologies with IFT74: view
genes like me logo Genes that share phenotypes with IFT74: view

Human Phenotype Ontology for IFT74 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for IFT74 Gene

Localization for IFT74 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT74 Gene

Cell projection, cilium. Cytoplasmic vesicle. Note=Localizes along primary cilia at interphase and around the basal body/centriole at interphase and mitosis.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IFT74 gene
Compartment Confidence
cytoskeleton 4
mitochondrion 3
nucleus 3
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IFT74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005813 centrosome IBA --
GO:0005929 cilium TAS,IBA --
GO:0030992 intraciliary transport particle B ISS,IBA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with IFT74: view

Pathways & Interactions for IFT74 Gene

genes like me logo Genes that share pathways with IFT74: view

Pathways by source for IFT74 Gene

Gene Ontology (GO) - Biological Process for IFT74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003334 keratinocyte development IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0007507 heart development IEA --
GO:0008544 epidermis development IEA --
genes like me logo Genes that share ontologies with IFT74: view

No data available for SIGNOR curated interactions for IFT74 Gene

Drugs & Compounds for IFT74 Gene

No Compound Related Data Available

Transcripts for IFT74 Gene

Unigene Clusters for IFT74 Gene

Intraflagellar transport 74 homolog (Chlamydomonas):
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFT74 Gene

No ASD Table

Relevant External Links for IFT74 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IFT74 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IFT74 Gene

Protein differential expression in normal tissues from HIPED for IFT74 Gene

This gene is overexpressed in Testis (24.4), Serum (16.2), and Adrenal (15.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IFT74 Gene

Protein tissue co-expression partners for IFT74 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IFT74 Gene:


SOURCE GeneReport for Unigene cluster for IFT74 Gene:


mRNA Expression by UniProt/SwissProt for IFT74 Gene:

Tissue specificity: Highly expressed in adult and fetal kidney and expressed at lower level in adult heart, placenta, lung, liver and pancreas, and in fetal heart, lung and liver. Little to no expression was detected in adult brain and skeletal muscle or in fetal brain, thymus and spleen.
genes like me logo Genes that share expression patterns with IFT74: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IFT74 Gene

Orthologs for IFT74 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT74 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia IFT74 34 33
  • 99.39 (n)
(Canis familiaris)
Mammalia IFT74 34 33
  • 91.56 (n)
(Bos Taurus)
Mammalia IFT74 34 33
  • 90.61 (n)
(Rattus norvegicus)
Mammalia Ift74 33
  • 88.46 (n)
(Mus musculus)
Mammalia Ift74 16 34 33
  • 88.18 (n)
(Monodelphis domestica)
Mammalia IFT74 34
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia IFT74 34
  • 68 (a)
(Gallus gallus)
Aves IFT74 34 33
  • 73.01 (n)
(Anolis carolinensis)
Reptilia IFT74 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ift74 33
  • 70.69 (n)
(Danio rerio)
Actinopterygii zgc:92052 33
  • 61.1 (n)
CABZ01064447.1 34
  • 50 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004724 33
  • 44.89 (n)
(Caenorhabditis elegans)
Secernentea ift-74 34 33
  • 47.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
-- 34
  • 29 (a)
Species where no ortholog for IFT74 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)
  • fruit fly (Drosophila melanogaster)
  • 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 IFT74 Gene

Gene Tree for IFT74 (if available)
Gene Tree for IFT74 (if available)
Evolutionary constrained regions (ECRs) for IFT74: view image

Paralogs for IFT74 Gene

(6) SIMAP similar genes for IFT74 Gene using alignment to 7 proteins:

  • E5RH29_HUMAN
genes like me logo Genes that share paralogs with IFT74: view

No data available for Paralogs for IFT74 Gene

Variants for IFT74 Gene

Sequence variations from dbSNP and Humsavar for IFT74 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs200699377 pathogenic, Bardet-Biedl syndrome 20 27,062,617(+) G/T 3_prime_UTR_variant, genic_downstream_transcript_variant, splice_acceptor_variant
rs551515830 uncertain-significance, Short rib-polydactyly syndrome, Majewski type 26,962,089(+) T/TT genic_upstream_transcript_variant, splice_donor_variant
rs759662469 uncertain-significance, Jeune thoracic dystrophy 27,029,104(+) G/T coding_sequence_variant, missense_variant
rs1000019385 -- 26,979,258(+) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IFT74 Gene

Variant ID Type Subtype PubMed ID
esv2677119 CNV deletion 23128226
esv3620122 CNV loss 21293372
esv3620123 CNV loss 21293372
esv3891647 CNV gain 25118596
nsv1015259 CNV gain 25217958
nsv466334 CNV loss 19166990
nsv517269 CNV gain 19592680
nsv528614 CNV gain 19592680
nsv613944 CNV loss 21841781

Variation tolerance for IFT74 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.48; 94.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IFT74 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT74 Gene

Disorders for IFT74 Gene

MalaCards: The human disease database

(7) MalaCards diseases for IFT74 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards


  • Bardet-Biedl syndrome 20 (BBS20) [MIM:617119]: A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:27486776}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IFT74

genes like me logo Genes that share disorders with IFT74: view

No data available for Genatlas for IFT74 Gene

Publications for IFT74 Gene

  1. Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling. (PMID: 11683410) Bell SE … Davis GE (Journal of cell science 2001) 2 3 4 58
  2. RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly. (PMID: 28428259) Nishijima Y … Nakayama K (Molecular biology of the cell 2017) 3 4 58
  3. The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. (PMID: 28625565) Kanie T … Jackson PK (Developmental cell 2017) 3 4 58
  4. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. (PMID: 27486776) Lindstrand A … Katsanis N (American journal of human genetics 2016) 3 4 58
  5. Molecular basis of tubulin transport within the cilium by IFT74 and IFT81. (PMID: 23990561) Bhogaraju S … Lorentzen E (Science (New York, N.Y.) 2013) 3 4 58

Products for IFT74 Gene

Sources for IFT74 Gene

Loading form....