Gene Gene information from NCBI Gene database.
Entrez ID 9238
Gene name Transforming growth factor beta regulator 4
Gene symbol TBRG4
Synonyms (NCBI Gene)
CPR2FASTKD4
Chromosome 7
Chromosome location 7p13
miRNA miRNA information provided by mirtarbase database.
262
miRTarBase ID miRNA Experiments Reference
MIRT031592 hsa-miR-16-5p Proteomics 18668040
MIRT032352 hsa-let-7b-5p Proteomics 18668040
MIRT046535 hsa-miR-15b-5p CLASH 23622248
MIRT540777 hsa-miR-8485 HITS-CLIP 23824327
MIRT540776 hsa-miR-329-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000963 Process Mitochondrial RNA processing IBA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
GO:0005515 Function Protein binding IPI 25416956, 32296183, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611325 17443 ENSG00000136270
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q969Z0
Protein name FAST kinase domain-containing protein 4 (Cell cycle progression restoration protein 2) (Cell cycle progression protein 2) (Protein TBRG4) (Transforming growth factor beta regulator 4)
Protein function Plays a role in processing of mitochondrial RNA precursors and in stabilization of a subset of mature mitochondrial RNA species, such as MT-CO1, MT-CO2, MT-CYB, MT-CO3, MT-ND3, MT-ND5 and MT-ATP8/6. May play a role in cell cycle progression (Pub
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06743 FAST_1 370 438 FAST kinase-like protein, subdomain 1 Family
PF08368 FAST_2 451 536 FAST kinase-like protein, subdomain 2 Family
PF08373 RAP 565 620 RAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:12759187). Expression detected in spleen, thymus, testis, ovary, colon, heart, smooth muscle, kidney, brain, lung, liver and white adipose tissue with highest expression in smooth muscle (PubMed:20869947)
Sequence
MAAHLVKRCTCLLREAARQAPAMAPVGRLRLAWVAHKTLTSSATSPISHLPGSLMEPVEK
ERASTPYIEKQVDHLIKKATRPEELLELLGGSHDLDSNQAAMVLIRLSHLLSEKPEDKGL
LIQDAHFHQLLCLLNSQIASVWHGTLSKLLGSLYALGIPKASKELQSVEQEVRWRMRKLK
YKHLAFLAESCATLSQEQHSQELLAELLTHLERRWTEIEDSHTLVTVMMKVGHLSEPLMN
RLEDKCLELVEHFGPNELRKVLVMLAAQSRRSVPLLRAISYHLVQKPFSLTKDVLLDVAY
AYGKLSFHQTQVSQRLATDLLSLMPSLTSGEVAHCAKSFALLKWLSLPLFEAFAQHVLNR
AQDITLPHLCSVLLAFARLNFHPDQEDQFFSLVHEKLGSELPGLEPALQVDLVWALCVLQ
QAREAELQAVLHPEFHIQ
FLGGKSQKDQNTFQKLLHINATALLEYPEYSGPLLPASAVAP
GPSALDRKVTPLQKELQETLKGLLGSADKGSLEVATQYGWVLDAEVLLDSDGEFLP
VRDF
VAPHLAQPTGSQSPPPGSKRLAFLRWEFPNFNSRSKDLLGRFVLARRHIVAAGFLIVDVP
FYEWLELKSEWQKGAYLKDK
MRKAVAEELAK
Sequence length 631
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
COLORECTAL ADENOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DUCHENNE MUSCULAR DYSTROPHY 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
Carcinogenesis Carcinogenesis Pubtator 27039262 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 26956052 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29387213
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma Pubtator 33675538 Associate
★☆☆☆☆
Found in Text Mining only
Sezary Syndrome Sezary syndrome Pubtator 27039262 Associate
★☆☆☆☆
Found in Text Mining only