IFT88 (intraflagellar transport 88)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8100
Gene name Gene Name - the full gene name approved by the HGNC.
Intraflagellar transport 88
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IFT88
Synonyms (NCBI Gene) Gene synonyms aliases
D13S1056E, DAF19, TG737, TTC10, hTg737
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q12.11
Summary Summary of gene provided in NCBI Entrez 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 isoform
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(53)
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IBA
GO:0002177 Component Manchette ISS
GO:0005515 Function Protein binding IPI 25564561, 27767179, 30388400, 32296183
GO:0005730 Component Nucleolus IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600595 20606 ENSG00000032742
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q13099
Protein name Intraflagellar transport protein 88 homolog (Recessive polycystic kidney disease protein Tg737 homolog) (Tetratricopeptide repeat protein 10) (TPR repeat protein 10)
Protein function Positively regulates primary cilium biogenesis (PubMed:17604723). Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment. {ECO:0000250|UniProtKB:Q61371, ECO:0000269|PubMed:176047
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13181 TPR_8 281 → 314 Tetratricopeptide repeat Repeat
PF13174 TPR_6 664 → 696 Tetratricopeptide repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in the heart, brain, liver, lung, kidney, skeletal muscle and pancreas. {ECO:0000269|PubMed:7633404}.
Sequence 
MMQNVHLAPETDEDDLYSGYNDYNPIYDIEELENDAAFQQAVRTSHGRRPPITAKISSTA
VTRPIATGYGSKTSLASSIGRPMTGAIQDGVTRPMTAVRAAGFTKAALRGSAFDPLSQSR
GPASPLEAKKKDSPEEKIKQLEKEVNELVEESCIANSCGDLKLALEKAKDAGRKERVLVR
QREQVTTPENINLDLTYSVLFNLASQYSVNEMYAEALNTYQVIVKNKMFSNAGILKMNMG
NIYLKQRNYSKAIKFYRMALDQVPSVNKQMRIKIMQNIGVTFIQAGQYSDAINSYEHIMS
MAPNLKAGYNLTICYFAIGDREKMKKAFQKLITVPLEIDEDKYISPSDDPHTNLVTEAIK
NDHLRQMERERKAMAEKYIMTSAKLIAPVIETSFAAGYDWCVEVVKASQYVELANDLEIN
KAVTYLRQKDYNQAVEILKVLEKKDSRVKSAAATNLSALYYMGKDFAQASSYADIAVNSD
RYNPAALTNKGNTVFANGDYEKAAEFYKEALRNDSSCTEALYNIGLTYEKLNRLDEALDC
FLKLHAILRNSAEVLYQIANIYELMENPSQAIEWLMQVVSVIPTDPQVLSKLGELYDREG
DKSQAFQYYYESYRYFPCNIEVIEWLGAYYIDTQFWEKAIQYFERASLIQPTQVKWQLMV
ASCFRRSGNYQKALDTYKDTHRKFPENVECLRFLVRLCTDLGLKDAQEYARKLKRLEKMK
EIREQRIKSGRDGSGGSRGKREGSASGDSGQNYSASSKGERLSARLRALPGTNEPYESSS
NKEIDASYVDPLGPQIERPKTAAKKRIDEDDFADEELGDDLLPE
Sequence length 824
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Hedgehog 'off' state
Intraflagellar transport
Aggrephagy
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Jeune Thoracic Dystrophy jeune thoracic dystrophy N/A N/A ClinVar
Retinitis Pigmentosa retinitis pigmentosa N/A N/A GenCC
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 26202055
Carcinogenesis Associate 28489570
Carcinoma Hepatocellular Associate 22974282, 28489570, 35368955
Cleft Palate Associate 30953423
Emphysema Associate 31419013
Erythema elevatum diutinum Associate 37239394
Fibrocystic Breast Disease Associate 26202055
Glioma Associate 37830570
Hypoxia Associate 22974282
Idiopathic Pulmonary Fibrosis Associate 29477141, 35608953