Gene Gene information from NCBI Gene database.
Entrez ID 127262
Gene name Tumor protein p63 regulated 1 like
Gene symbol TPRG1L
Synonyms (NCBI Gene)
FAM79ASVAP30TPRGLh-movermover
Chromosome 1
Chromosome location 1p36.32
miRNA miRNA information provided by mirtarbase database.
519
miRTarBase ID miRNA Experiments Reference
MIRT019669 hsa-miR-375 Microarray 20215506
MIRT030667 hsa-miR-21-5p Microarray 18591254
MIRT047125 hsa-miR-183-5p CLASH 23622248
MIRT038824 hsa-miR-93-3p CLASH 23622248
MIRT068904 hsa-miR-548az-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005516 Function Calmodulin binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0008021 Component Synaptic vesicle IBA
GO:0008021 Component Synaptic vesicle ISS 17869247
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611460 27007 ENSG00000158109
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T0D9
Protein name Tumor protein p63-regulated gene 1-like protein (Mossy fiber terminal-associated vertebrate-specific presynaptic protein) (Protein FAM79A)
Protein function Presynaptic protein involved in the synaptic transmission tuning. Regulates synaptic release probability by decreasing the calcium sensitivity of release.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12456 hSac2 62 169 Inositol phosphatase Domain
Sequence
MLQLRDSVDSAGTSPTAVLAAGEEVGAGGGPGGGRPGAGTPLRQTLWPLSIHDPTRRARV
KEYFVFRPGSIEQAVEEIRVVVRPVEDGEIQGVWLLTEVDHWNNEKERLVLVTEQSLLIC
KYDFISLQCQQVVRIALNAVDTISYGEFQFPPKSLNKREGFGIRIQWDK
QSRPSFINRWN
PWSTNVPYATFTEHPMAGADEKTASLCQLESFKALLIQAVKKAQKESPLPGQANGVLILE
RPLLIETYVGLMSFINNEAKLGYSMTRGKIGF
Sequence length 272
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma of lung Lung carcinoma BEFREE 29913439
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 31294790 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 31294790
★☆☆☆☆
Found in Text Mining only
Gallbladder Neoplasms Gallbladder neoplasm Pubtator 36401185 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 29913439
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple Sclerosis BEFREE 31294790
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple sclerosis Pubtator 31294790 Associate
★☆☆☆☆
Found in Text Mining only