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Aliases for IFT80 Gene

Aliases for IFT80 Gene

  • Intraflagellar Transport 80 2 3 5
  • WD Repeat-Containing Protein 56 3 4
  • WD Repeat Domain 56 2 3
  • WDR56 3 4
  • Intraflagellar Transport 80 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 80 Homolog 3
  • Intraflagellar Transport 80 Homolog 3
  • KIAA1374 4
  • SRTD2 3
  • ATD2 3

External Ids for IFT80 Gene

Previous HGNC Symbols for IFT80 Gene

  • WDR56

Previous GeneCards Identifiers for IFT80 Gene

  • GC03M161459
  • GC03M159945
  • GC03M159974
  • GC03M157373

Summaries for IFT80 Gene

Entrez Gene Summary for IFT80 Gene

  • The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

GeneCards Summary for IFT80 Gene

IFT80 (Intraflagellar Transport 80) is a Protein Coding gene. Diseases associated with IFT80 include Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly and Asphyxiating Thoracic Dystrophy. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. An important paralog of this gene is ENSG00000248710.

UniProtKB/Swiss-Prot for IFT80 Gene

  • Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.

Gene Wiki entry for IFT80 Gene

Additional gene information for IFT80 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT80 Gene

Genomics for IFT80 Gene

GeneHancer (GH) Regulatory Elements for IFT80 Gene

Promoters and enhancers for IFT80 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
GH03I160398 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 559.1 -2.0 -2011 7.5 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 E2F8 SMC4 IFT80 B3GAT3P1 GC03P160406 GC03P160416 GC03P160417 GC03P160418 MIR15B MIR16-2 ENSG00000248710
GH03I160381 Promoter 0.7 EPDnew 550.4 +18.2 18209 0.1 FOXA2 HMBOX1 IFT80 SMC4 RPL35AP10 ENSG00000248710
GH03I160383 Promoter 0.5 EPDnew 550.4 +16.2 16247 0.1 IFT80 SMC4 RPL35AP10 ENSG00000248710
GH03I159828 Enhancer 1.4 Ensembl ENCODE dbSUPER 18.9 +570.0 570019 2.8 FOXA2 FEZF1 ZNF2 YY1 ZNF121 ZNF213 KLF7 FOS ZNF214 DEK IFT80 RNU2-31P IL12A SMC4 IQCJ-SCHIP1-AS1 LOC101928351 SCHIP1 IQCJ-SCHIP1
GH03I161265 Enhancer 1.3 Ensembl ENCODE dbSUPER 14 -867.3 -867293 3.9 PKNOX1 FOXA2 NEUROD1 SIN3A ZBTB7B YY1 ATF7 FOS RXRA REST SPTSSB IFT80 PSMC1P7 ENSG00000260572 RPL23AP42 LINC02067 LOC105374187 ENSG00000271052
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IFT80 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IFT80 gene promoter:

Genomic Locations for IFT80 Gene

Genomic Locations for IFT80 Gene
chr3:160,256,986-160,399,880
(GRCh38/hg38)
Size:
142,895 bases
Orientation:
Minus strand
chr3:159,974,774-160,117,668
(GRCh37/hg19)

Genomic View for IFT80 Gene

Genes around IFT80 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT80 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT80 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT80 Gene

Proteins for IFT80 Gene

  • Protein details for IFT80 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2H3-IFT80_HUMAN
    Recommended name:
    Intraflagellar transport protein 80 homolog
    Protein Accession:
    Q9P2H3
    Secondary Accessions:
    • B4E0K1
    • C9J8I0
    • Q3MJC4
    • Q86YF4
    • Q9UIX1

    Protein attributes for IFT80 Gene

    Size:
    777 amino acids
    Molecular mass:
    88035 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 with IFT88 (By similarity).

    Alternative splice isoforms for IFT80 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFT80 Gene

Post-translational modifications for IFT80 Gene

No Post-translational modifications

No data available for DME Specific Peptides for IFT80 Gene

Domains & Families for IFT80 Gene

Gene Families for IFT80 Gene

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

Suggested Antigen Peptide Sequences for IFT80 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IFT80: view

No data available for UniProtKB/Swiss-Prot for IFT80 Gene

Function for IFT80 Gene

Molecular function for IFT80 Gene

UniProtKB/Swiss-Prot Function:
Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.

Phenotypes From GWAS Catalog for IFT80 Gene

genes like me logo Genes that share phenotypes with IFT80: view

Human Phenotype Ontology for IFT80 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFT80 Gene

MGI Knock Outs for IFT80:

Animal Model Products

miRNA for IFT80 Gene

miRTarBase miRNAs that target IFT80

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for IFT80 Gene

Localization for IFT80 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT80 Gene

Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Note=Basal body and ciliary axoneme. {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 IFT80 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for IFT80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IBA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium TAS,IBA --
GO:0030992 intraciliary transport particle B IBA,ISS --
genes like me logo Genes that share ontologies with IFT80: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IFT80 Gene

Pathways & Interactions for IFT80 Gene

genes like me logo Genes that share pathways with IFT80: view

Pathways by source for IFT80 Gene

Gene Ontology (GO) - Biological Process for IFT80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEA --
GO:0002062 chondrocyte differentiation IEA --
GO:0007224 smoothened signaling pathway IEA --
GO:0035735 intraciliary transport involved in cilium assembly TAS --
GO:0045880 positive regulation of smoothened signaling pathway IEA --
genes like me logo Genes that share ontologies with IFT80: view

No data available for SIGNOR curated interactions for IFT80 Gene

Drugs & Compounds for IFT80 Gene

No Compound Related Data Available

Transcripts for IFT80 Gene

Unigene Clusters for IFT80 Gene

Intraflagellar transport 80 homolog (Chlamydomonas):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFT80 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1: -
SP2:

Relevant External Links for IFT80 Gene

GeneLoc Exon Structure for
IFT80
ECgene alternative splicing isoforms for
IFT80

Expression for IFT80 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IFT80 Gene

Protein differential expression in normal tissues from HIPED for IFT80 Gene

This gene is overexpressed in Testis (49.8) and Fetal ovary (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IFT80 Gene



Protein tissue co-expression partners for IFT80 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IFT80 Gene:

IFT80

SOURCE GeneReport for Unigene cluster for IFT80 Gene:

Hs.478095

mRNA Expression by UniProt/SwissProt for IFT80 Gene:

Q9P2H3-IFT80_HUMAN
Tissue specificity: Isoform IFT80-L is widely expressed.

Evidence on tissue expression from TISSUES for IFT80 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IFT80 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IFT80: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for IFT80 Gene

Orthologs for IFT80 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT80 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT80 33 34
  • 99.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 97 (a)
ManyToMany
-- 34
  • 88 (a)
ManyToMany
-- 34
  • 85 (a)
ManyToMany
-- 34
  • 58 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia IFT80 33 34
  • 94.24 (n)
cow
(Bos Taurus)
Mammalia IFT80 33 34
  • 93.34 (n)
rat
(Rattus norvegicus)
Mammalia Ift80 33
  • 89.02 (n)
mouse
(Mus musculus)
Mammalia Ift80 33 16 34
  • 88.23 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 82 (a)
OneToMany
IFT80 33
  • 80.1 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ift80 33
  • 75.88 (n)
Str.15257 33
African clawed frog
(Xenopus laevis)
Amphibia kiaa1374-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii ift80 33 34
  • 68.24 (n)
wufj11a06 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010190 33
  • 48.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta Oseg5 33 34
  • 48.04 (n)
worm
(Caenorhabditis elegans)
Secernentea che-2 33 34
  • 52.07 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
OneToMany
Species where no ortholog for IFT80 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 IFT80 Gene

ENSEMBL:
Gene Tree for IFT80 (if available)
TreeFam:
Gene Tree for IFT80 (if available)

Paralogs for IFT80 Gene

Paralogs for IFT80 Gene

Pseudogenes.org Pseudogenes for IFT80 Gene

genes like me logo Genes that share paralogs with IFT80: view

Variants for IFT80 Gene

Sequence variations from dbSNP and Humsavar for IFT80 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1016910065 uncertain-significance, Jeune thoracic dystrophy 160,258,421(-) C/T 3_prime_UTR_variant
rs113776466 uncertain-significance, Jeune thoracic dystrophy 160,399,509(-) C/A/G 5_prime_UTR_variant, genic_upstream_transcript_variant
rs137853115 pathogenic, Asphyxiating thoracic dystrophy 2, Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263] 160,377,485(-) G/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs137853116 pathogenic, Asphyxiating thoracic dystrophy 2, Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263] 160,268,535(-) C/G coding_sequence_variant, missense_variant
rs138004478 conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic, Jeune thoracic dystrophy, not specified, Short rib-polydactyly syndrome, Majewski type, Asphyxiating thoracic dystrophy 2 160,356,069(-) C/G/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for IFT80 Gene

Variant ID Type Subtype PubMed ID
nsv822305 CNV gain 20364138
esv3569079 CNV loss 25503493

Variation tolerance for IFT80 Gene

Residual Variation Intolerance Score: 50.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.39; 81.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IFT80 Gene

Human Gene Mutation Database (HGMD)
IFT80
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT80

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT80 Gene

Disorders for IFT80 Gene

MalaCards: The human disease database

(12) MalaCards diseases for IFT80 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

IFT80_HUMAN
  • Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a trident appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:17468754}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IFT80

genes like me logo Genes that share disorders with IFT80: view

No data available for Genatlas for IFT80 Gene

Publications for IFT80 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. Identification and characterization of a long isoform of human IFT80, IFT80-L. (PMID: 18601909) Huang W … Li MD (Biochemical and biophysical research communications 2008) 3 4 58
  3. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. (PMID: 17468754) Beales PL … Scambler PJ (Nature genetics 2007) 3 4 58
  4. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for IFT80 Gene

Sources for IFT80 Gene

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