Gene Gene information from NCBI Gene database.
Entrez ID 6434
Gene name Transformer 2 beta homolog
Gene symbol TRA2B
Synonyms (NCBI Gene)
Htra2-betaPPP1R156SFRS10SRFS10TRA2-BETATRAN2B
Chromosome 3
Chromosome location 3q27.2
Summary This gene encodes a nuclear protein which functions as sequence-specific serine/arginine splicing factor which plays a role in mRNA processing, splicing patterns, and gene expression. Alternative splicing results in multiple transcript variants. [provided
miRNA miRNA information provided by mirtarbase database.
547
miRTarBase ID miRNA Experiments Reference
MIRT006537 hsa-miR-10a-5p Luciferase reporter assay 21118818
MIRT006538 hsa-miR-10b-5p Luciferase reporter assay 21118818
MIRT006537 hsa-miR-10a-5p Luciferase reporter assay 21118818
MIRT006538 hsa-miR-10b-5p Luciferase reporter assay 21118818
MIRT024099 hsa-miR-1-3p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000375 Process RNA splicing, via transesterification reactions TAS 9546399
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 12165565, 12761049
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IMP 25689357
GO:0000398 Process MRNA splicing, via spliceosome IDA 9546399
GO:0000398 Process MRNA splicing, via spliceosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602719 10781 ENSG00000136527
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62995
Protein name Transformer-2 protein homolog beta (TRA-2 beta) (TRA2-beta) (hTRA2-beta) (Splicing factor, arginine/serine-rich 10) (Transformer-2 protein homolog B)
Protein function Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Can either activate or suppress exon inclusion. Acts additively with RBMX to promote exon 7 inclusion of the survival motor neuron SMN2. Activates the
PDB 2CQC , 2KXN , 2RRA , 2RRB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 120 190 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in heart, skeletal muscle and pancreas. Less abundant in kidney, placenta and brain. Lowest expression in kidney and liver. {ECO:0000269|PubMed:9790768}.
Sequence
MSDSGEQNYGERESRSASRSGSAHGSGKSARHTPARSRSKEDSRRSRSKSRSRSESRSRS
RRSSRRHYTRSRSRSRSHRRSRSRSYSRDYRRRHSHSHSPMSTRRRHVGNRANPDPNCCL
GVFGLSLYTTERDLREVFSKYGPIADVSIVYDQQSRRSRGFAFVYFENVDDAKEAKERAN
GMELDGRRIR
VDFSITKRPHTPTPGIYMGRPTYGSSRRRDYYDRGYDRGYDDRDYYSRSY
RGGGGGGGGWRAAQDRDQIYRRRSPSPYYSRGGYRSRSRSRSYSPRRY
Sequence length 288
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
RAMOND-ELLIOTT NEURODEVELOPMENTAL SYNDROME Pathogenic rs2473753535 RCV006257247
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRA2B-associated epileptic encephalopathy Pathogenic rs2473753535 RCV003984360
★★★★☆
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
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
Adenocarcinoma Adenocarcinoma BEFREE 23361474
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 24098751
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 16371011, 34857913 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 36549593 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 36549593 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31775037
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31775037, 33176162, 34895237 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 23361474
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24865968, 25342468, 31311954 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 36549593 Associate
★☆☆☆☆
Found in Text Mining only