Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84530
Gene name Gene Name - the full gene name approved by the HGNC.
Serine/arginine repetitive matrix 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SRRM4
Synonyms (NCBI Gene) Gene synonyms aliases
KIAA1853, MU-MB-2.76, nSR100
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.23
Summary Summary of gene provided in NCBI Entrez Gene.
SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT622072 hsa-miR-8485 HITS-CLIP 22927820
MIRT653125 hsa-miR-6793-3p HITS-CLIP 22927820
MIRT627515 hsa-miR-4742-3p HITS-CLIP 22927820
MIRT622072 hsa-miR-8485 HITS-CLIP 22927820
MIRT653125 hsa-miR-6793-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 29961578
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome ISS
GO:0003729 Function MRNA binding IBA 21873635
GO:0003729 Function MRNA binding ISS
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613103 29389 ENSG00000139767
Protein
UniProt ID A7MD48
Protein name Serine/arginine repetitive matrix protein 4 (Medulloblastoma antigen MU-MB-2.76) (Neural-specific serine/arginine repetitive splicing factor of 100 kDa) (Neural-specific SR-related protein of 100 kDa) (nSR100)
Protein function Splicing factor specifically required for neural cell differentiation. Acts in conjunction with nPTB/PTBP2 by binding directly to its regulated target transcripts and promotes neural-specific exon inclusion in many genes that function in neural
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15230 SRRM_C 457 522 Serine/arginine repetitive matrix protein C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in neuronal cells (at protein level). Expressed in the cerebellum. {ECO:0000269|PubMed:12800201, ECO:0000269|PubMed:19737518}.
Sequence
MASVQQGEKQLFEKFWRGTFKAVATPRPESIIVASITARKPLPRTEPQNNPVVPAQDGPS
EKLGQHLATEPLGTNSWERDKTCRELGATRGHSASHDKDLTPPPSSRGKKKKKKSTRKKR
RRSSSYSPSPVKKKKKKSSKKHKRRRSFSKKRRHSSSSPKSKRRDEKRHKKQSRSRPRKS
HRHRHHRCPSRSQSSESRPSSCESRHRGRSPEEGQKSRRRHSRRCSKTLCKDSPEAQSSR
PPSQPLQMLGYLSARGVITGSGSAADLFTKTASPLTTSRGRSQEYDSGNDTSSPPSTQTS
SARSRGQEKGSPSGGLSKSRELNSGNTSDSGNSFTTSSPQNKGAMLENLSPTSRGRESRG
FQSPCLECAEVKKSSLVPSTARSSPMKGCSRSSSYASTRSSSHSSRSPNPRASPRYTQSR
STSSEKRSYSRSPSYSSKSGKRSPPSRSSRSRRSPSYSRYSPSRERDPKYSEKDSQQRER
ERARRRRRSYSPMRKRRRDSPSHLEARRITSARKRPIPYYRP
SPSSSGSLSSTSSWYSSS
SSRSASRSYSRSRSRSRSRRRSRTRTSSSSSSRSPSPGSRSRSRSRSRSRSRSRSQSRSY
SSADSYSSTRR
Sequence length 611
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 23364394 ClinVar
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Psoriasis Psoriasis GWAS
Ischemic Stroke Ischemic Stroke GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 29274321
Autism Spectrum Disorder Associate 32807774
Breast Neoplasms Associate 37716001
Glioma Associate 33207694
Hereditary Breast and Ovarian Cancer Syndrome Stimulate 37716001
Neoplasm Metastasis Associate 26071481, 37716001
Neoplasms Associate 33207694, 34312180, 37716001
Neuroendocrine Tumors Associate 26071481
Prostatic Neoplasms Associate 32403054, 34312180
Prostatic Neoplasms Castration Resistant Associate 26071481, 34312180