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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
  • Intraflagellar Transport Protein 43 Homolog 3
  • 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.

Additional gene information for IFT43 Gene

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

Genomics for IFT43 Gene

GeneHancer (GH) Regulatory Elements for IFT43 Gene

Promoters and enhancers for IFT43 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
GH14I075984 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.2 +83.7 83713 2.5 HDAC1 ATF1 FOXA2 NFIB RB1 SIN3A BMI1 BRCA1 ZBTB40 RFX5 IFT43 TGFB3 LOC100506576
GH14I075992 Enhancer 1.4 VISTA Ensembl ENCODE dbSUPER 19.3 +92.8 92845 4.6 RXRA JUNB REST BATF IRF4 NR2F2 BCL11A IKZF1 SCRT2 HNF4A IFT43 FLVCR2 TTLL5 TGFB3 LOC100506576
GH14I075979 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.6 +79.3 79252 4.1 HDGF PKNOX1 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B TGFB3 IFT43 TGFB3-AS1
GH14I076760 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 11.2 +859.9 859904 2.7 SIN3A ZNF48 ZNF335 GLIS2 IKZF2 EGR2 PHF21A REST SREBF1 GLIS1 ENSG00000258569 VASH1 POMT2 IFT43 ENSG00000258610
GH14I075249 Promoter/Enhancer 2.7 VISTA FANTOM5 Ensembl ENCODE dbSUPER 6.5 -647.1 -647094 12 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B NEUROD1 SIN3A FEZF1 NEK9 GPATCH2L IFT43 FOS ABCD4 ENSG00000258740 YLPM1 LOC105370571 RNU4ATAC14P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IFT43 on UCSC Golden Path with GeneCards custom track

Genomic Locations for IFT43 Gene

Genomic Locations for IFT43 Gene
chr14:75,902,136-76,084,585
(GRCh38/hg38)
Size:
182,450 bases
Orientation:
Plus strand
chr14:76,368,479-76,550,928
(GRCh37/hg19)

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:
    Q96FT9-IFT43_HUMAN
    Recommended name:
    Intraflagellar transport protein 43 homolog
    Protein Accession:
    Q96FT9
    Secondary Accessions:
    • B3KPT6
    • B4DZI9
    • G3V385
    • O95418
    • Q9ULA9

    Protein attributes for IFT43 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for IFT43 Gene

Post-translational modifications for IFT43 Gene

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

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

Protein Domains for IFT43 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFT43 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96FT9

UniProtKB/Swiss-Prot:

IFT43_HUMAN :
  • Belongs to the IFT43 family.
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 From GWAS Catalog for IFT43 Gene

Gene Ontology (GO) - Molecular Function for IFT43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with IFT43: view

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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. Cell projection, cilium. Note=Associated with microtubules. {ECO:0000269 PubMed:22361696}.

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 IFT43 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
mitochondrion 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (3)
  • Microtubules (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IFT43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IDA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium TAS --
GO:0015630 microtubule cytoskeleton IDA --
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0035721 intraciliary retrograde transport IMP 21378380
GO:0035735 intraciliary transport involved in cilium assembly TAS --
GO:0060271 cilium assembly IMP 21378380
genes like me logo Genes that share ontologies with IFT43: view

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:

Clone Products

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: - -
SP12:

Relevant External Links for IFT43 Gene

GeneLoc Exon Structure for
IFT43
ECgene alternative splicing isoforms for
IFT43

Expression for IFT43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for IFT43 Gene



Protein tissue co-expression partners for IFT43 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IFT43 Gene:

IFT43

SOURCE GeneReport for Unigene cluster for IFT43 Gene:

Hs.532626

Evidence on tissue expression from TISSUES for IFT43 Gene

  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IFT43 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with IFT43: view

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
chimpanzee
(Pan troglodytes)
Mammalia IFT43 33 34
  • 99.22 (n)
cow
(Bos Taurus)
Mammalia IFT43 33 34
  • 78.1 (n)
dog
(Canis familiaris)
Mammalia IFT43 33 34
  • 76.38 (n)
rat
(Rattus norvegicus)
Mammalia Ift43 33
  • 76.27 (n)
mouse
(Mus musculus)
Mammalia Ift43 33 16 34
  • 75.99 (n)
oppossum
(Monodelphis domestica)
Mammalia IFT43 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFT43 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFT43 33 34
  • 66.85 (n)
lizard
(Anolis carolinensis)
Reptilia IFT43 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift43 33
  • 59.74 (n)
zebrafish
(Danio rerio)
Actinopterygii IFT43 34
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5780 34
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToOne
Species where no ortholog for IFT43 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for IFT43 (if available)
TreeFam:
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 Variation AA Info Type
rs144776609 uncertain-significance, Jeune thoracic dystrophy 75,985,794(+) A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs147933112 uncertain-significance, Cranioectodermal dysplasia 75,988,922(+) C/A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs148085072 uncertain-significance, Cranioectodermal dysplasia 76,083,271(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs151137087 uncertain-significance, Cranioectodermal dysplasia 75,988,966(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs17783366 benign, Cranioectodermal dysplasia 76,076,661(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2675014 CNV deletion 23128226
esv3393685 CNV insertion 20981092
esv3634978 CNV loss 21293372
esv3634979 CNV loss 21293372
nsv1360 CNV deletion 18451855
nsv7256 OTHER inversion 18451855

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)

Additional Variant Information for IFT43 Gene

Human Gene Mutation Database (HGMD)
IFT43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT43

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

Disorders for IFT43 Gene

MalaCards: The human disease database

(6) MalaCards diseases for IFT43 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cranioectodermal dysplasia 3
  • ced3
cranioectodermal dysplasia 1
  • ced1
skin tag
  • cutaneous tag
cardiomyopathy, familial hypertrophic, 1
  • cmh1
nephronophthisis
  • medullary cystic disease
- elite association - COSMIC cancer census association via MalaCards
Search IFT43 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IFT43_HUMAN
  • 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.

Additional Disease Information for IFT43

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 HH … Roepman R (Journal of medical genetics 2011) 2 3 4 58
  2. 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 PK (Genes & development 2010) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  5. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 58

Products for IFT43 Gene

Sources for IFT43 Gene

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