This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017] See more...

Aliases for IFT88 Gene

Aliases for IFT88 Gene

  • Intraflagellar Transport 88 2 3 5
  • Recessive Polycystic Kidney Disease Protein Tg737 Homolog 3 4
  • Intraflagellar Transport Protein 88 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
  • D13S1056E 2 3
  • HTg737 2 3
  • TG737 3 4
  • TTC10 3 4
  • Probe HTg737 (Polycystic Kidney Disease, Autosomal Recessive) 3
  • Intraflagellar Transport 88 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport 88 Homolog 3
  • Testicular Tissue Protein Li 93 3
  • MGC26259 2
  • DAF19 3
  • IFT88 5
  • Tg737 2

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. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017]

GeneCards Summary for IFT88 Gene

IFT88 (Intraflagellar Transport 88) is a Protein Coding gene. Diseases associated with IFT88 include Retinitis Pigmentosa and Polycystic Kidney Disease. Among its related pathways are Organelle biogenesis and maintenance and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include kinesin binding. An important paralog of this gene is CFAP70.

UniProtKB/Swiss-Prot Summary 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.

Gene Wiki entry for IFT88 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IFT88 Gene

Genomics for IFT88 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IFT88 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 IFT88 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IFT88

Top Transcription factor binding sites by QIAGEN in the IFT88 gene promoter:
  • C/EBPalpha
  • E47
  • Hand1
  • Pax-2
  • Pax-2a
  • Pax-2b
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for IFT88 Gene

Genomic Locations for IFT88 Gene
chr13:20,566,446-20,691,444
(GRCh38/hg38)
Size:
124,999 bases
Orientation:
Plus strand
chr13:21,140,585-21,265,576
(GRCh37/hg19)
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 (By similarity). Interacts with IFT20, IFT22, HSPB11, IFT27, IFT52, TRAF3IP1, IFT74, IFT80 and IFT81 (By similarity). Interacts with IFT172 (By similarity). Interacts with IFT57 (By similarity). Interacts with IFT46 (By similarity). Interacts with TTC30B (By similarity). Interacts with C2CD3 (By similarity). Interacts with ENTR1 (via N-terminus) (PubMed:27767179). Interacts with LRRC56 (PubMed:30388400).

    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

Gene Families for IFT88 Gene

Protein Domains for IFT88 Gene

Suggested Antigen Peptide Sequences for IFT88 Gene

GenScript: Design optimal peptide antigens:
  • Tetratricopeptide repeat protein 10 (IFT88_HUMAN)
  • Intraflagellar transport 88 homolog (Chlamydomonas) (Q5SZJ5_HUMAN)
genes like me logo Genes that share domains with IFT88: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IFT88 Gene

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.

Phenotypes From GWAS Catalog for IFT88 Gene

Gene Ontology (GO) - Molecular Function for IFT88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 25564561
GO:0019894 kinesin binding IBA 21873635
genes like me logo Genes that share ontologies with IFT88: view
genes like me logo Genes that share phenotypes with IFT88: view

Human Phenotype Ontology for IFT88 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFT88 Gene

MGI Knock Outs for IFT88:

Animal Model Products

CRISPR Products

miRNA for IFT88 Gene

miRTarBase miRNAs that target IFT88

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IFT88

No data available for Enzyme Numbers (IUBMB) , 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. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm. Cell projection, cilium, flagellum. Note=Colocalizes with ENTR1 and gamma-tubulin at the basal body of primary cilia. Colocalizes with ENTR1 and pericentrin at the centrosome. {ECO:0000269 PubMed:27767179}.

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 IFT88 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 3
plasma membrane 2
extracellular 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for IFT88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 27767179
GO:0005814 centriole IBA,ISS --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with IFT88: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IFT88 Gene

Pathways & Interactions for IFT88 Gene

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

SIGNOR curated interactions for IFT88 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IFT88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IBA 21873635
GO:0030030 cell projection organization IEA --
GO:0035735 intraciliary transport involved in cilium assembly TAS --
GO:0042073 intraciliary transport IBA 21873635
GO:0060122 inner ear receptor cell stereocilium organization IBA 21873635
genes like me logo Genes that share ontologies with IFT88: view

Drugs & Compounds for IFT88 Gene

No Compound Related Data Available

Transcripts for IFT88 Gene

mRNA/cDNA for IFT88 Gene

19 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IFT88

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

Expression for IFT88 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for IFT88 Gene



Protein tissue co-expression partners for IFT88 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for IFT88 Gene

  • Liver(4.5)
  • Nervous system(3)
  • Kidney(3)
  • Eye(2.6)
  • Skin(2.3)
  • Lung(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with IFT88: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IFT88 Gene

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 30 31
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IFT88 30 31
  • 91.95 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ift88 30 17 31
  • 87.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IFT88 30 31
  • 87.14 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IFT88 31
  • 87 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IFT88 31
  • 85 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ift88 30
  • 84.55 (n)
Chicken
(Gallus gallus)
Aves IFT88 30 31
  • 78.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IFT88 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ift88 30
  • 74.03 (n)
Str.14228 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.13378 30
Zebrafish
(Danio rerio)
Actinopterygii ift88 30 31
  • 70.93 (n)
OneToOne
wufb37b11 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006324 30
  • 47.56 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta nompB 30 31
  • 46.66 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea osm-5 30 31
  • 53.42 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
OneToOne
Species where no ortholog for IFT88 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IFT88: view image

Paralogs for IFT88 Gene

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

  • IFT88_HUMAN
  • E7EW86_HUMAN
  • F5H6C2_HUMAN
  • F6SRW8_HUMAN
genes like me logo Genes that share paralogs with IFT88: view

Variants for IFT88 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IFT88 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
710026 Benign: not provided 20,598,669(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
730872 Likely Benign: not provided 20,641,320(+) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
776782 Benign: not provided 20,653,914(+) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
781097 Benign: not provided 20,591,668(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
rs1329519 Benign: not specified 20,631,001(+) A/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for IFT88 Gene

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)

Additional Variant Information for IFT88 Gene

Human Gene Mutation Database (HGMD)
IFT88
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT88

SNP Genotyping and Copy Number Assay Products

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

Disorders for IFT88 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search IFT88 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IFT88

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 JJ … Woychik RP (Human molecular genetics 1995) 2 3 4 23
  2. Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. (PMID: 30388400) Bonnefoy S … Sheridan EG (American journal of human genetics 2018) 3 4
  3. The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. (PMID: 28625565) Kanie T … Jackson PK (Developmental cell 2017) 3 4
  4. RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly. (PMID: 28428259) Nishijima Y … Nakayama K (Molecular biology of the cell 2017) 3 4
  5. The serologically defined colon cancer antigen-3 (SDCCAG3) is involved in the regulation of ciliogenesis. (PMID: 27767179) Yu F … Erdmann KS (Scientific reports 2016) 3 4

Products for IFT88 Gene

Sources for IFT88 Gene