SRRM4 (serine/arginine repetitive matrix 4)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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84530 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Serine/arginine repetitive matrix 4 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SRRM4 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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KIAA1853, MU-MB-2.76, nSR100 |
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Chromosome
Chromosome number
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12 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12q24.23 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009] |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| 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
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| 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 |
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| Sequence length | 611 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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