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Aliases for IFT88 Gene

Aliases for IFT88 Gene

  • Intraflagellar Transport 88 2 3 5
  • Recessive Polycystic Kidney Disease Protein Tg737 Homolog 3 4
  • Tetratricopeptide Repeat Protein 10 3 4
  • Tetratricopeptide Repeat Domain 10 2 3
  • TPR Repeat Protein 10 3 4
  • Polaris Homolog 2 3
  • TTC10 3 4
  • TG737 3 4
  • Probe HTg737 (Polycystic Kidney Disease, Autosomal Recessive) 3
  • Intraflagellar Transport 88 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 88 Homolog 3
  • Intraflagellar Transport 88 Homolog 3
  • Testicular Tissue Protein Li 93 3
  • D13S1056E 3
  • HTg737 3
  • DAF19 3

External Ids for IFT88 Gene

Previous HGNC Symbols for IFT88 Gene

  • TTC10

Previous GeneCards Identifiers for IFT88 Gene

  • GC13P020039
  • GC13P021141
  • GC13P001944

Summaries for IFT88 Gene

Entrez Gene Summary for IFT88 Gene

  • This gene encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for IFT88 Gene

IFT88 (Intraflagellar Transport 88) is a Protein Coding gene. Diseases associated with IFT88 include Polycystic Kidney And Hepatic Disease and Kidney Disease. Among its related pathways are Organelle biogenesis and maintenance and Endochondral Ossification. GO annotations related to this gene include kinesin binding.

UniProtKB/Swiss-Prot for IFT88 Gene

  • Involved in primary cilium biogenesis. 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 IFT88 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT88 Gene

Genomics for IFT88 Gene

Regulatory Elements for IFT88 Gene

Enhancers for IFT88 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F020702 0.9 ENCODE 30.5 +136.8 136763 2.4 PKNOX1 ARID4B SIN3A BMI1 ZNF48 RAD21 ZNF121 ELK1 ZNF143 HCFC1 IFT88 MIPEPP3 EEF1AKMT1 CRYL1 ENSG00000278291 GC13M020702 IL17D
GH13F020708 0.4 ENCODE 29.6 +142.8 142837 1.7 GATAD2A JUN CEBPB FOS YY1 IFT88 XPO4 EEF1AKMT1 SLC35E1P1 CRYL1 ENSG00000279135 ENSG00000278291 GC13M020702
GH13F020556 0.2 ENCODE 21.9 -7.3 -7283 4.6 ELF3 TBP DMAP1 RAD21 RARA YY1 ZNF335 ZNF121 CREM MIXL1 IFT88 SLC35E1P1 IL17D CRYL1
GH13F020552 0.8 FANTOM5 ENCODE 21.9 -12.6 -12619 2.2 SOX13 ELF3 SAP130 MLX ARID4B CEBPG ZNF644 RAD21 RARA TEAD3 IFT88 CRYL1 SLC35E1P1 EEF1AKMT1 IL17D
GH13F020565 1.1 ENCODE 21.7 +0.8 846 2.9 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 IFT88 SLC35E1P1 CNOT4P1 LINC00367 LINC01072 LATS2-AS1 IPPKP1 LINC01046 LINC00350 MRPS31P2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around IFT88 on UCSC Golden Path with GeneCards custom track

Promoters for IFT88 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000512605 755 2400 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for IFT88 Gene

Chromosome:
13
Start:
20,566,446 bp from pter
End:
20,691,437 bp from pter
Size:
124,992 bases
Orientation:
Plus strand

Genomic View for IFT88 Gene

Genes around IFT88 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT88 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT88 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT88 Gene

Proteins for IFT88 Gene

  • Protein details for IFT88 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13099-IFT88_HUMAN
    Recommended name:
    Intraflagellar transport protein 88 homolog
    Protein Accession:
    Q13099
    Secondary Accessions:
    • A2A491
    • B4DUS2
    • Q5SZJ6
    • Q8N719

    Protein attributes for IFT88 Gene

    Size:
    833 amino acids
    Molecular mass:
    94270 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 IFT20, IFT22, HSPB11, IFT27, IFT46, IFT52, TRAF3IP1, IFT57, IFT74, IFT80, IFT81, IFT88 AND IFT172. Interacts with C2CD3 (By similarity).

    Alternative splice isoforms for IFT88 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFT88 Gene

Post-translational modifications for IFT88 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IFT88 Gene

Domains & Families for IFT88 Gene

Protein Domains for IFT88 Gene

Suggested Antigen Peptide Sequences for IFT88 Gene

Graphical View of Domain Structure for InterPro Entry

Q13099

UniProtKB/Swiss-Prot:

IFT88_HUMAN :
  • Contains 12 TPR repeats.
Similarity:
  • Contains 12 TPR repeats.
genes like me logo Genes that share domains with IFT88: view

Function for IFT88 Gene

Molecular function for IFT88 Gene

UniProtKB/Swiss-Prot Function:
Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment (By similarity).

Gene Ontology (GO) - Molecular Function for IFT88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25564561
genes like me logo Genes that share ontologies with IFT88: view
genes like me logo Genes that share phenotypes with IFT88: view

Animal Models for IFT88 Gene

MGI Knock Outs for IFT88:

Animal Model Products

miRNA for IFT88 Gene

miRTarBase miRNAs that target IFT88

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IFT88 Gene

Localization for IFT88 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT88 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IFT88 Gene COMPARTMENTS Subcellular localization image for IFT88 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for IFT88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005814 centriole ISS --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium ISS,IDA --
GO:0030992 intraciliary transport particle B ISS --
genes like me logo Genes that share ontologies with IFT88: view

Pathways & Interactions for IFT88 Gene

genes like me logo Genes that share pathways with IFT88: view

Gene Ontology (GO) - Biological Process for IFT88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly ISS --
GO:1902017 regulation of cilium assembly ISS --
GO:2000785 regulation of autophagosome assembly ISS --
genes like me logo Genes that share ontologies with IFT88: view

No data available for SIGNOR curated interactions for IFT88 Gene

Transcripts for IFT88 Gene

Unigene Clusters for IFT88 Gene

Intraflagellar transport 88 homolog (Chlamydomonas):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFT88 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: -
SP2: -
SP3:
SP4: - -
SP5:
SP6:
SP7: -
SP8:

Relevant External Links for IFT88 Gene

GeneLoc Exon Structure for
IFT88
ECgene alternative splicing isoforms for
IFT88

Expression for IFT88 Gene

mRNA expression in normal human tissues for IFT88 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IFT88 Gene

This gene is overexpressed in Testis (x4.7).

Protein differential expression in normal tissues from HIPED for IFT88 Gene

This gene is overexpressed in Nasal epithelium (44.6) and Testis (18.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IFT88 Gene



Protein tissue co-expression partners for IFT88 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IFT88 Gene:

IFT88

SOURCE GeneReport for Unigene cluster for IFT88 Gene:

Hs.187376

mRNA Expression by UniProt/SwissProt for IFT88 Gene:

Q13099-IFT88_HUMAN
Tissue specificity: Expressed in the heart, brain, liver, lung, kidney, skeletal muscle and pancreas.
genes like me logo Genes that share expression patterns with IFT88: view

Primer Products

Orthologs for IFT88 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT88 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT88 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia IFT88 34 35
  • 91.95 (n)
cow
(Bos Taurus)
Mammalia IFT88 34 35
  • 87.14 (n)
mouse
(Mus musculus)
Mammalia Ift88 34 16 35
  • 87.14 (n)
oppossum
(Monodelphis domestica)
Mammalia IFT88 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFT88 35
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ift88 34
  • 84.55 (n)
chicken
(Gallus gallus)
Aves IFT88 34 35
  • 78.31 (n)
lizard
(Anolis carolinensis)
Reptilia IFT88 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift88 34
  • 74.03 (n)
Str.14228 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13378 34
zebrafish
(Danio rerio)
Actinopterygii ift88 34 35
  • 70.93 (n)
wufb37b11 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006324 34
  • 47.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta nompB 34 35
  • 46.66 (n)
worm
(Caenorhabditis elegans)
Secernentea osm-5 34 35
  • 53.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 56 (a)
OneToOne
Species where no ortholog for IFT88 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)
  • 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 IFT88 Gene

ENSEMBL:
Gene Tree for IFT88 (if available)
TreeFam:
Gene Tree for IFT88 (if available)

Paralogs for IFT88 Gene

(1) SIMAP similar genes for IFT88 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with IFT88: view

No data available for Paralogs for IFT88 Gene

Variants for IFT88 Gene

Sequence variations from dbSNP and Humsavar for IFT88 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs10400614 -- 20,660,198(+) tgtca(C/T)ggaac intron-variant
rs10400669 -- 20,679,004(+) ttagc(A/G)tcaga intron-variant
rs10400670 -- 20,679,350(+) atgca(A/G)agcaa intron-variant
rs10400673 -- 20,679,427(+) ttaaa(C/T)gccga intron-variant
rs10507293 -- 20,687,128(-) GACCA(A/G)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IFT88 Gene

Variant ID Type Subtype PubMed ID
esv2759925 CNV loss 17122850
esv33630 CNV gain 17666407
esv3631433 CNV loss 21293372
esv3631435 CNV loss 21293372
nsv1078303 OTHER inversion 25765185
nsv1134286 CNV deletion 24896259
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159
nsv826580 CNV gain 20364138
nsv832558 CNV loss 17160897
nsv983554 CNV duplication 23825009

Variation tolerance for IFT88 Gene

Residual Variation Intolerance Score: 60% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.59; 82.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IFT88 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT88

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT88 Gene

Disorders for IFT88 Gene

MalaCards: The human disease database

(4) MalaCards diseases for IFT88 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
polycystic kidney and hepatic disease
  • polycystic kidney disease, autosomal recessive
kidney disease
  • nephropathy
orofaciodigital syndrome i
  • orofaciodigital syndrome 1
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search IFT88 in MalaCards View complete list of genes associated with diseases

Relevant External Links for IFT88

Genetic Association Database (GAD)
IFT88
Human Genome Epidemiology (HuGE) Navigator
IFT88
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IFT88
genes like me logo Genes that share disorders with IFT88: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IFT88 Gene

Publications for IFT88 Gene

  1. Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene. (PMID: 7633404) Schrick J.J. … Woychik R.P. (Hum. Mol. Genet. 1995) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression. (PMID: 20713499) Huang J. … Smoller J.W. (Am J Psychiatry 2010) 3 46 64
  4. Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia. (PMID: 11251073) Taulman P.D. … Yoder B.K. (Mol. Biol. Cell 2001) 3 22 64
  5. New insights into the molecular pathophysiology of polycystic kidney disease. (PMID: 10200981) Murcia N.S. … Avner E.D. (Kidney Int. 1999) 3 22 64

Products for IFT88 Gene

Sources for IFT88 Gene

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