Gene Gene information from NCBI Gene database.
Entrez ID 145567
Gene name Tetratricopeptide repeat domain 7B
Gene symbol TTC7B
Synonyms (NCBI Gene)
TTC7L1c14_5685
Chromosome 14
Chromosome location 14q32.11
miRNA miRNA information provided by mirtarbase database.
121
miRTarBase ID miRNA Experiments Reference
MIRT020039 hsa-miR-375 Microarray 20215506
MIRT021405 hsa-miR-9-5p Microarray 17612493
MIRT049562 hsa-miR-92a-3p CLASH 23622248
MIRT1461870 hsa-miR-1245b-3p CLIP-seq
MIRT1461871 hsa-miR-125a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23229899, 26571211, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 23229899
GO:0005829 Component Cytosol IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620060 19858 ENSG00000165914
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86TV6
Protein name Tetratricopeptide repeat protein 7B (TPR repeat protein 7B) (Tetratricopeptide repeat protein 7-like-1) (TPR repeat protein 7-like-1)
Protein function Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging
PDB 5DSE , 6BQ1 , 9B9G , 9BAX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13181 TPR_8 397 430 Tetratricopeptide repeat Repeat
PF12895 ANAPC3 494 575 Domain
PF13424 TPR_12 728 795 Repeat
PF13181 TPR_8 798 831 Tetratricopeptide repeat Repeat
Sequence
MATKKAGSRLETEIERCRSECQWERIPELVKQLSAKLIANDDMAELLLGESKLEQYLKEH
PLRQGASPRGPKPQLTEVRKHLTAALDRGNLKSEFLQESNLIMAKLNYVEGDYKEALNIY
ARVGLDDLPLTAVPPYRLRVIAEAYATKGLCLEKLPISSSTSNLHVDREQDVITCYEKAG
DIALLYLQEIERVILSNIQNRSPKPGPAPHDQELGFFLETGLQRAHVLYFKNGNLTRGVG
RFRELLRAVETRTTQNLRMTIARQLAEILLRGMCEQSYWNPLEDPPCQSPLDDPLRKGAN
TKTYTLTRRARVYSGENIFCPQENTEEALLLLLISESMANRDAVLSRIPEHKSDRLISLQ
SASVVYDLLTIALGRRGQYEMLSECLERAMKFAFEEFHLWYQFALSLMAAGKSARAVKVL
KECIRLKPDD
ATIPLLAAKLCMGSLHWLEEAEKFAKTVVDVGEKTSEFKAKGYLALGLTY
SLQATDASLRGMQEVLQRKALLAFQRAHSLSPTDHQAAFYLALQLAISRQIPEALGYVRQ
ALQLQGDDANSLHLLALLLSAQKHYHDALNIIDMA
LSEYPENFILLFSKVKLQSLCRGPD
EALLTCKHMLQIWKSCYNLTNPSDSGRGSSLLDRTIADRRQLNTITLPDFSDPETGSVHA
TSVAASRVEQALSEVASSLQSSAPKQGPLHPWMTLAQIWLHAAEVYIGIGKPAEATACTQ
EAANLFPMSHNVLYMRGQIAELRGSMDEARRWYEEALAISPTHVKSMQRLALILHQLGRY
SLAEKILRDAVQVNS
TAHEVWNGLGEVLQAQGNDAAATECFLTALELEASSPAVPFTIIP
RVL
Sequence length 843
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cardiovascular Diseases Associate 22453632
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Associate 22453632
★☆☆☆☆
Found in Text Mining only
Glioma Inhibit 36193074
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 36193074
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Associate 37990988
★☆☆☆☆
Found in Text Mining only
Stroke Associate 22453632
★☆☆☆☆
Found in Text Mining only