Gene
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.
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IBA 21873635
GO:0005515 Function Protein binding IPI 25564561, 27767179, 30388400, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA 27767179
GO:0005814 Component Centriole IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600595 20606 ENSG00000032742
Protein
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
MAPNLKAGYNLTIC
YFAIGDREKMKKAFQKLITVPLEIDEDKYISPSDDPHTNLVTEAIK
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.
  Reactome
    Hedgehog 'off' state
Intraflagellar transport
Aggrephagy
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Gastrointestinal stromal tumor Gastrointestinal Stromal Tumors, Gastrointestinal Stromal Sarcoma rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512
View all (59 more)
27793025
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Unknown
Disease term Disease name Evidence References Source
Retinitis Pigmentosa retinitis pigmentosa GenCC
Insomnia Insomnia GWAS
Associations from Text Mining
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