This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively ... See more...

Aliases for IFT20 Gene

Aliases for IFT20 Gene

  • Intraflagellar Transport 20 2 3 5
  • Intraflagellar Transport Protein 20 Homolog 3 4
  • Intraflagellar Transport 20 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein IFT20 3
  • Intraflagellar Transport 20 Homolog 3
  • HIFT20 4

External Ids for IFT20 Gene

Previous GeneCards Identifiers for IFT20 Gene

  • GC17M023680
  • GC17M026655
  • GC17M022863
  • GC17M028329
  • GC17M028421
  • GC17M029275
  • GC17M029376
  • GC17M028528
  • GC17M028622
  • GC17M028707
  • GC17M028802
  • GC17M028908
  • GC17M029001
  • GC17M029102
  • GC17M029186

Summaries for IFT20 Gene

Entrez Gene Summary for IFT20 Gene

  • This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 14.[provided by RefSeq, Jun 2012]

GeneCards Summary for IFT20 Gene

IFT20 (Intraflagellar Transport 20) is a Protein Coding gene. Diseases associated with IFT20 include Retinitis Pigmentosa. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include opsin binding.

UniProtKB/Swiss-Prot Summary for IFT20 Gene

  • Part of intraflagellar transport (IFT) particles involved in ciliary process assembly. May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium (PubMed:16775004). Regulates the platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway. Required for protein stability of E3 ubiquitin ligases CBL and CBLB that mediate ubiquitination and internalization of PDGFRA for proper feedback inhibition of PDGFRA signaling (PubMed:29237719). Essential for male fertility. Plays an important role in spermatogenesis, particularly spermiogenesis, when germ cells form flagella. May play a role in the transport of flagellar proteins ODF2 and SPAG16 to build sperm flagella and in the removal of redundant sperm cytoplasm (By similarity). Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment (By similarity).

Gene Wiki entry for IFT20 Gene

Additional gene information for IFT20 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IFT20 Gene

Genomics for IFT20 Gene

GeneHancer (GH) Regulatory Elements for IFT20 Gene

Promoters and enhancers for IFT20 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IFT20 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IFT20 gene promoter:
  • AhR
  • Arnt
  • c-Myc
  • CREB
  • IRF-2
  • Max
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox9

Genomic Locations for IFT20 Gene

Genomic Locations for IFT20 Gene
chr17:28,328,325-28,335,489
(GRCh38/hg38)
Size:
7,165 bases
Orientation:
Minus strand
chr17:26,655,352-26,662,515
(GRCh37/hg19)
Size:
7,164 bases
Orientation:
Minus strand

Genomic View for IFT20 Gene

Genes around IFT20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT20 Gene

Proteins for IFT20 Gene

  • Protein details for IFT20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY31-IFT20_HUMAN
    Recommended name:
    Intraflagellar transport protein 20 homolog
    Protein Accession:
    Q8IY31
    Secondary Accessions:
    • J3QL09
    • Q5GLZ2
    • Q9BUG5

    Protein attributes for IFT20 Gene

    Size:
    132 amino acids
    Molecular mass:
    15281 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 directly with IFT57 and KIF3B/Kinesin II subunit (By similarity). Interacts with IFT88 (By similarity). Interacts with CEP83 (PubMed:23530209). Interacts with SPEF2 (via C-terminus) (PubMed:19889948). Interacts with CBL and CBLB (PubMed:29237719).

    Alternative splice isoforms for IFT20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFT20 Gene

Post-translational modifications for IFT20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IFT20 Gene

Domains & Families for IFT20 Gene

Gene Families for IFT20 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for IFT20 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFT20 Gene

GenScript: Design optimal peptide antigens:
  • Intraflagellar transport protein 20 homolog (IFT20_HUMAN)
genes like me logo Genes that share domains with IFT20: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IFT20 Gene

Function for IFT20 Gene

Molecular function for IFT20 Gene

UniProtKB/Swiss-Prot Function:
Part of intraflagellar transport (IFT) particles involved in ciliary process assembly. May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium (PubMed:16775004). Regulates the platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway. Required for protein stability of E3 ubiquitin ligases CBL and CBLB that mediate ubiquitination and internalization of PDGFRA for proper feedback inhibition of PDGFRA signaling (PubMed:29237719). Essential for male fertility. Plays an important role in spermatogenesis, particularly spermiogenesis, when germ cells form flagella. May play a role in the transport of flagellar proteins ODF2 and SPAG16 to build sperm flagella and in the removal of redundant sperm cytoplasm (By similarity). Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment (By similarity).

Phenotypes From GWAS Catalog for IFT20 Gene

Gene Ontology (GO) - Molecular Function for IFT20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002046 opsin binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0017137 Rab GTPase binding IPI 26021297
genes like me logo Genes that share ontologies with IFT20: view
genes like me logo Genes that share phenotypes with IFT20: view

Animal Models for IFT20 Gene

MGI Knock Outs for IFT20:
  • Ift20 Ift20<tm1a(EUCOMM)Wtsi>
  • Ift20 Ift20<tm1.2Gjp>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for IFT20

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for IFT20 Gene

Localization for IFT20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT20 Gene

Golgi apparatus, cis-Golgi network. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cytoplasm, cytoskeleton. Golgi apparatus. Note=Present at the centrosomes during the cell cycle and associated with the proximal portion of the mother centriole and the lateral aspect of the daughter centriole. Associated with basal body at the base of primary cilia. Detected in the Golgi apparatus of round spermatids and late spermatocytes. Also detected in the manchette of step 10-12 spermatids. In step 14 spermatids, found in the basal body of the sperm tail. {ECO:0000250 UniProtKB:Q61025}.

Subcellular locations from

COMPARTMENTS
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 IFT20 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 4
plasma membrane 1
extracellular 1
nucleus 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IFT20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0001750 photoreceptor outer segment IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IBA,ISS --
GO:0005801 cis-Golgi network IDA 24648492
genes like me logo Genes that share ontologies with IFT20: view

Pathways & Interactions for IFT20 Gene

genes like me logo Genes that share pathways with IFT20: view

Pathways by source for IFT20 Gene

Gene Ontology (GO) - Biological Process for IFT20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001736 establishment of planar polarity IEA --
GO:0001822 kidney development IEA --
GO:0007224 smoothened signaling pathway IEA --
GO:0007283 spermatogenesis ISS --
GO:0008542 visual learning IEA --
genes like me logo Genes that share ontologies with IFT20: view

No data available for SIGNOR curated interactions for IFT20 Gene

Drugs & Compounds for IFT20 Gene

No Compound Related Data Available

Transcripts for IFT20 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for IFT20

Alternative Splicing Database (ASD) splice patterns (SP) for IFT20 Gene

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

Relevant External Links for IFT20 Gene

GeneLoc Exon Structure for
IFT20
ECgene alternative splicing isoforms for
IFT20

Expression for IFT20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IFT20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IFT20 Gene

This gene is overexpressed in Plasma (53.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IFT20 Gene



NURSA nuclear receptor signaling pathways regulating expression of IFT20 Gene:

IFT20

SOURCE GeneReport for Unigene cluster for IFT20 Gene:

Hs.705431

mRNA Expression by UniProt/SwissProt for IFT20 Gene:

Q8IY31-IFT20_HUMAN
Tissue specificity: Expressed in almost all tissues.

Evidence on tissue expression from TISSUES for IFT20 Gene

  • Nervous system(3.8)
genes like me logo Genes that share expression patterns with IFT20: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for IFT20 Gene

Orthologs for IFT20 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT20 33 32
  • 100 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IFT20 33
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IFT20 33 32
  • 95.96 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFT20 33
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IFT20 33 32
  • 91.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ift20 17 33 32
  • 91.16 (n)
rat
(Rattus norvegicus)
Mammalia Ift20 32
  • 90.23 (n)
chicken
(Gallus gallus)
Aves IFT20 33 32
  • 75.25 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift20 32
  • 80.3 (n)
Str.10741 32
African clawed frog
(Xenopus laevis)
Amphibia LOC398244 32
zebrafish
(Danio rerio)
Actinopterygii ift20 33 32
  • 74.49 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006172 32
  • 56.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30441 33 32
  • 49.19 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ift-20 33
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 69 (a)
OneToOne
Cin.5274 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5274 32
Species where no ortholog for IFT20 was found in the sources mined by GeneCards:
  • 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)
  • lizard (Anolis carolinensis)
  • 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 IFT20 Gene

ENSEMBL:
Gene Tree for IFT20 (if available)
TreeFam:
Gene Tree for IFT20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IFT20: view image

Paralogs for IFT20 Gene

Pseudogenes.org Pseudogenes for IFT20 Gene

genes like me logo Genes that share paralogs with IFT20: view

No data available for Paralogs for IFT20 Gene

Variants for IFT20 Gene

Sequence variations from dbSNP and Humsavar for IFT20 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000285564 -- 28,330,504(-) A/G coding_sequence_variant, missense_variant
rs1000572287 -- 28,329,987(-) G/A intron_variant
rs1001100615 -- 28,335,720(-) C/G upstream_transcript_variant
rs1001151565 -- 28,335,513(-) C/A upstream_transcript_variant
rs1003006791 -- 28,332,400(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IFT20 Gene

Variant ID Type Subtype PubMed ID
nsv2017 CNV insertion 18451855
nsv519388 CNV loss 19592680
nsv574653 CNV gain 21841781

Variation tolerance for IFT20 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IFT20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT20

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT20 Gene

Disorders for IFT20 Gene

MalaCards: The human disease database

(1) MalaCards diseases for IFT20 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search IFT20 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IFT20

genes like me logo Genes that share disorders with IFT20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IFT20 Gene

Publications for IFT20 Gene

  1. The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly. (PMID: 16775004) Follit JA … Pazour GJ (Molecular biology of the cell 2006) 3 4 23 56
  2. IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases. (PMID: 29237719) Schmid FM … Christensen ST (The Journal of cell biology 2018) 3 4 56
  3. CCDC41 is required for ciliary vesicle docking to the mother centriole. (PMID: 23530209) Joo K … Kim J (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. Cloning and characterization of the human IFT20 gene. (PMID: 14672413) Yin G … Mao Y (Molecular biology reports 2003) 3 4 56

Products for IFT20 Gene

Sources for IFT20 Gene