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Aliases for IFT46 Gene

Aliases for IFT46 Gene

  • Intraflagellar Transport 46 2 3 5
  • Cilia And Flagella Associated Protein 32 2 3
  • C11orf60 3 4
  • C11orf2 3 4
  • Intraflagellar Transport 46 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 46 Homolog 3
  • Intraflagellar Transport Protein IFT46 3
  • Chromosome 11 Open Reading Frame 60 2
  • Intraflagellar Transport 46 Homolog 3
  • UPF0360 3
  • CFAP32 3

External Ids for IFT46 Gene

Previous HGNC Symbols for IFT46 Gene

  • C11orf60

Previous GeneCards Identifiers for IFT46 Gene

  • GC11M118415
  • GC11M114351

Summaries for IFT46 Gene

GeneCards Summary for IFT46 Gene

IFT46 (Intraflagellar Transport 46) is a Protein Coding gene. Diseases associated with IFT46 include Joubert Syndrome 1 and Meckel Syndrome, Type 1. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot for IFT46 Gene

  • Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. May play a role in chondrocyte maturation and skeletogenesis (By similarity).

Gene Wiki entry for IFT46 Gene

Additional gene information for IFT46 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT46 Gene

Genomics for IFT46 Gene

GeneHancer (GH) Regulatory Elements for IFT46 Gene

Promoters and enhancers for IFT46 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I118564 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 578.3 +7.5 7491 2.3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 E2F8 IFT46 RNF26 ARCN1 ENSG00000254909 UBE4A TREHP1 RPL5P30
GH11I118571 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 577.8 +0.2 205 2.9 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 SP3 IFT46 ARCN1 RPL5P30 KMT2A CCDC84 VPS11 ENSG00000255121 HINFP HMBS
GH11I118603 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 35.4 -35.7 -35658 9.9 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF207 ZNF143 FOS PHLDB1 IFT46 TREHP1 LOC105369519 KMT2A TREH TRAPPC4 ENSG00000255176 ARCN1 VPS11
GH11I119090 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 36.2 -520.7 -520702 5.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 GC11M119097 H2AFX KMT2A HINFP UBE4A ARCN1 BCL9L RPL5P30 ENSG00000254909 CCDC84
GH11I118433 Promoter/Enhancer 2.7 VISTA EPDnew Ensembl ENCODE dbSUPER 19.6 +134.9 134882 8.2 CLOCK ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 KMT2A VPS11 TMEM25 IFT46 ARCN1 HINFP THY1 CCDC84 LOC101929089 ATP5MG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IFT46 on UCSC Golden Path with GeneCards custom track

Genomic Locations for IFT46 Gene

Genomic Locations for IFT46 Gene
chr11:118,544,528-118,572,970
(GRCh38/hg38)
Size:
28,443 bases
Orientation:
Minus strand
chr11:118,415,243-118,443,685
(GRCh37/hg19)

Genomic View for IFT46 Gene

Genes around IFT46 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT46 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT46 Gene

Proteins for IFT46 Gene

  • Protein details for IFT46 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQC8-IFT46_HUMAN
    Recommended name:
    Intraflagellar transport protein 46 homolog
    Protein Accession:
    Q9NQC8
    Secondary Accessions:
    • A8K0F6
    • Q9H6V5

    Protein attributes for IFT46 Gene

    Size:
    304 amino acids
    Molecular mass:
    34286 Da
    Quaternary structure:
    • Component of the IFT complex B, at least composed of IFT20, IFT22, IFT25/HSPB11, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT57, IFT88 and DAW1. Interacts with TTC26/IFT56 (By similarity). Interacts with ARL13B. Interacts with TTC25 (PubMed:25860617).

    Alternative splice isoforms for IFT46 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFT46 Gene

Post-translational modifications for IFT46 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IFT46 Gene

Domains & Families for IFT46 Gene

Gene Families for IFT46 Gene

Protein Domains for IFT46 Gene

Suggested Antigen Peptide Sequences for IFT46 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQC8

UniProtKB/Swiss-Prot:

IFT46_HUMAN :
  • Belongs to the IFT46 family.
Family:
  • Belongs to the IFT46 family.
genes like me logo Genes that share domains with IFT46: view

Function for IFT46 Gene

Molecular function for IFT46 Gene

UniProtKB/Swiss-Prot Function:
Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. May play a role in chondrocyte maturation and skeletogenesis (By similarity).

Phenotypes From GWAS Catalog for IFT46 Gene

Gene Ontology (GO) - Molecular Function for IFT46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008022 protein C-terminus binding ISS --
genes like me logo Genes that share ontologies with IFT46: view
genes like me logo Genes that share phenotypes with IFT46: view

Animal Models for IFT46 Gene

MGI Knock Outs for IFT46:

miRNA for IFT46 Gene

miRTarBase miRNAs that target IFT46

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IFT46 Gene

Localization for IFT46 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT46 Gene

Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Note=Expression is concentrated at the cilium basal body but is also detected along the length of the cilium. {ECO:0000250}.

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 IFT46 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IFT46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005813 centrosome IBA,IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium TAS,IEA --
GO:0030992 intraciliary transport particle B ISS,IEA --
genes like me logo Genes that share ontologies with IFT46: view

Pathways & Interactions for IFT46 Gene

genes like me logo Genes that share pathways with IFT46: view

Pathways by source for IFT46 Gene

Gene Ontology (GO) - Biological Process for IFT46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway IEA --
GO:0008150 biological_process ND --
GO:0035735 intraciliary transport involved in cilium assembly TAS --
GO:0042073 intraciliary transport ISS,IEA --
GO:0050821 protein stabilization ISS --
genes like me logo Genes that share ontologies with IFT46: view

No data available for SIGNOR curated interactions for IFT46 Gene

Drugs & Compounds for IFT46 Gene

No Compound Related Data Available

Transcripts for IFT46 Gene

Unigene Clusters for IFT46 Gene

Intraflagellar transport 46 homolog (Chlamydomonas):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFT46 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9
SP1: - - -
SP2: -
SP3:
SP4:

Relevant External Links for IFT46 Gene

GeneLoc Exon Structure for
IFT46
ECgene alternative splicing isoforms for
IFT46

Expression for IFT46 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IFT46 Gene

Protein differential expression in normal tissues from HIPED for IFT46 Gene

This gene is overexpressed in Cerebrospinal fluid (37.9), Serum (14.4), and Heart (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IFT46 Gene



Protein tissue co-expression partners for IFT46 Gene

NURSA nuclear receptor signaling pathways regulating expression of IFT46 Gene:

IFT46

SOURCE GeneReport for Unigene cluster for IFT46 Gene:

Hs.533738

Evidence on tissue expression from TISSUES for IFT46 Gene

  • Nervous system(4.7)
  • Lung(4.2)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with IFT46: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IFT46 Gene

Orthologs for IFT46 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT46 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT46 33 34
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia IFT46 33 34
  • 89.89 (n)
dog
(Canis familiaris)
Mammalia IFT46 33 34
  • 89.36 (n)
rat
(Rattus norvegicus)
Mammalia Ift46 33
  • 86.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IFT46 34
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ift46 33 16 34
  • 84.87 (n)
oppossum
(Monodelphis domestica)
Mammalia IFT46 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFT46 33 34
  • 75.37 (n)
lizard
(Anolis carolinensis)
Reptilia IFT46 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift46 33
  • 70.83 (n)
Str.15123 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9932 33
zebrafish
(Danio rerio)
Actinopterygii ift46 33 34
  • 72.24 (n)
Dr.14552 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7447 33
fruit fly
(Drosophila melanogaster)
Insecta CG15161 34
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dyf-6 33 34
  • 53.86 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5554 33
Species where no ortholog for IFT46 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 IFT46 Gene

ENSEMBL:
Gene Tree for IFT46 (if available)
TreeFam:
Gene Tree for IFT46 (if available)

Paralogs for IFT46 Gene

No data available for Paralogs for IFT46 Gene

Variants for IFT46 Gene

Sequence variations from dbSNP and Humsavar for IFT46 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000130676 -- 118,553,382(-) G/A intron_variant
rs1000219480 -- 118,550,217(-) G/A intron_variant
rs1000243255 -- 118,556,650(-) C/T intron_variant
rs1000289841 -- 118,550,010(-) G/A intron_variant
rs1000373287 -- 118,564,677(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IFT46 Gene

Variant ID Type Subtype PubMed ID
esv2666357 CNV deletion 23128226
esv3579929 CNV loss 25503493
esv3627873 CNV loss 21293372
nsv1044281 CNV gain 25217958
nsv7224 OTHER inversion 18451855
nsv972077 CNV duplication 23825009

Variation tolerance for IFT46 Gene

Residual Variation Intolerance Score: 79.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.72; 89.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IFT46 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT46

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT46 Gene

Disorders for IFT46 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IFT46 Gene - From: DISEASES

Disorder Aliases PubMed IDs
joubert syndrome 1
  • jbts1
meckel syndrome, type 1
  • mks1
- elite association - COSMIC cancer census association via MalaCards
Search IFT46 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IFT46

genes like me logo Genes that share disorders with IFT46: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IFT46 Gene

Publications for IFT46 Gene

  1. Characterization of five novel human genes in the 11q13-q22 region. (PMID: 10873569) O'Brien KP … Dumanski JP (Biochemical and biophysical research communications 2000) 2 3 4 58
  2. Characterization of mouse IFT complex B. (PMID: 19253336) Follit JA … Pazour GJ (Cell motility and the cytoskeleton 2009) 2 3 58
  3. 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 58
  4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for IFT46 Gene

Sources for IFT46 Gene

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