Gene: SRRM4

Alternate names for this Gene: KIAA1853|MU-MB-2.76|nSR100

Gene Summary: SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC152471.1, AB058756.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2154665 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000267260.5/ ENSP00000267260.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.23

Description of this Gene: serine/arginine repetitive matrix 4

Type of Gene: protein-coding

rs1568923 in SRRM4 gene and Autosomal dominant compelling helio ophthalmic outburst syndrome PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.