TRA2B
entrez
6434
canonical
uniprot
P62995
canonical
ensembl
ENSG00000136527
resolver
ensp
ENSP00000371626
resolver
ensp
ENSP00000416959
resolver
genesymbol
TRA2B
resolver
genesymbol_syn
SFRS10
resolver
hgnc
HGNC:10781
resolver
uniprot
B4DVK2
resolver
uniprot
D3DNU3
resolver
uniprot
O15449
resolver
uniprot
Q15815
resolver
uniprot
Q64283
resolver
uniprot_entry
TRA2B_HUMAN
resolver
uniprot_sec
B4DVK2
resolver
uniprot_sec
D3DNU3
resolver
uniprot_sec
O15449
resolver
uniprot_sec
Q15815
resolver
uniprot_sec
Q64283
resolver
amino_acid_sequence
MSDSGEQNYGERESRSASRSGSAHGSGKSARHTPARSRSKEDSRRSRSKSRSRSESRSRSRRSSRRHYTRSRSRSRSHRRSRSRSYSRDYRRRHSHSHSPMSTRRRHVGNRANPDPNCCLGVFGLSLYTTERDLREVFSKYGPIADVSIVYDQQSRRSRGFAFVYFENVDDAKEAKERANGMELDGRRIRVDFSITKRPHTPTPGIYMGRPTYGSSRRRDYYDRGYDRGYDDRDYYSRSYRGGGGGGGGWRAAQDRDQIYRRRSPSPYYSRGGYRSRSRSRSYSPRRY
uniprot
proteins
disease_involvement
DISEASE: Ramond-Elliott neurodevelopmental syndrome (RAMELN) [MIM:621421]: An autosomal dominant disorder manifesting in infancy or the first years of life, and characterized by global developmental delay, hypotonia, delayed walking or inability to walk, intellectual disability, poor or absent speech, and behavioral problems. Affected individuals frequently develop infantile spasms that may be severe and refractory. Additional variable features include poor overall growth, dysmorphic facial features, feeding difficulties, and brain anomalies. {ECO:0000269|PubMed:36549593, ECO:0000269|PubMed:37958557}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 splicing of MAPT/Tau exon 10. Alters pre-mRNA splicing patterns by antagonizing the effects of splicing regulators, like RBMX. Binds to the AG-rich SE2 domain in the SMN exon 7 RNA. Binds to pre-mRNA. {ECO:0000269|PubMed:12165565, ECO:0000269|PubMed:12761049, ECO:0000269|PubMed:15009664, ECO:0000269|PubMed:9546399}.
uniprot
proteins
mass_dalton
33666
uniprot
proteins
post_translational_modification
PTM: Phosphorylated in the RS domains. {ECO:0000269|PubMed:9546399}.; PTM: Dimethylation at Arg-241 is probably asymmetric.
uniprot
proteins
protein_family
Splicing factor SR family
uniprot
proteins
pubmed
10339552
uniprot
proteins
pubmed
10749975
uniprot
proteins
pubmed
12165565
uniprot
proteins
pubmed
12761049
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14729963
uniprot
proteins
pubmed
14765198
uniprot
proteins
pubmed
15009664
uniprot
proteins
pubmed
15169763
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15782174
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19282290
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
36549593
uniprot
proteins
pubmed
37958557
uniprot
proteins
pubmed
9212162
uniprot
proteins
pubmed
9546399
uniprot
proteins
pubmed
9790768
uniprot
proteins
sequence_length
288
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9212162, ECO:0000269|PubMed:9546399}.
uniprot
proteins