Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
145567
Gene name Gene Name - the full gene name approved by the HGNC.
Tetratricopeptide repeat domain 7B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TTC7B
Synonyms (NCBI Gene) Gene synonyms aliases
TTC7L1, c14_5685
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.11
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23229899, 26571211, 32296183
GO:0005829 Component Cytosol IDA 23229899
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane IDA 23229899
GO:0046854 Process Phosphatidylinositol phosphorylation IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620060 19858 ENSG00000165914
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Melanoma Cutaneous Melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340
View all (64 more)
30429480
Unknown
Disease term Disease name Evidence References Source
Malignant melanoma of skin Malignant melanoma of skin of lower limb, Malignant melanoma of skin of upper limb 30429480 ClinVar
Schizophrenia Schizophrenia GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cardiovascular Diseases Associate 22453632
Cerebral Infarction Associate 22453632
Glioma Inhibit 36193074
Neoplasms Associate 36193074
Squamous Cell Carcinoma of Head and Neck Associate 37990988
Stroke Associate 22453632