SRRM4 serine/arginine repetitive matrix 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SRRM4provided by HGNC
Official Full Name: serine/arginine repetitive matrix 4provided by HGNC
Primary source: HGNC:HGNC:29389
See related: Ensembl:ENSG00000139767 MIM:613103; AllianceGenome:HGNC:29389
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: nSR100; KIAA1853; MU-MB-2.76
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]
Expression: Biased expression in brain (RPKM 5.9) and adrenal (RPKM 0.7) See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.23

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (118981541..119163051)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (118969040..119150482)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (119419346..119600856)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNA Splicing Factors SRRM3 and SRRM4 Distinguish Molecular Phenotypes of Castration-Resistant Neuroendocrine Prostate Cancer.
Title: RNA Splicing Factors SRRM3 and SRRM4 Distinguish Molecular Phenotypes of Castration-Resistant Neuroendocrine Prostate Cancer.
SRRM4 Expands the Repertoire of Circular RNAs by Regulating Microexon Inclusion.
Title: SRRM4 Expands the Repertoire of Circular RNAs by Regulating Microexon Inclusion.
Alternative splicing of LSD1+8a in neuroendocrine prostate cancer is mediated by SRRM4.
Title: Alternative splicing of LSD1+8a in neuroendocrine prostate cancer is mediated by SRRM4.
RNA Splicing of the BHC80 Gene Contributes to Neuroendocrine Prostate Cancer Progression.
Title: RNA Splicing of the BHC80 Gene Contributes to Neuroendocrine Prostate Cancer Progression.
A gapmer antisense oligonucleotide targeting SRRM4 is a novel therapeutic medicine for lung cancer.
Title: A gapmer antisense oligonucleotide targeting SRRM4 is a novel therapeutic medicine for lung cancer.
SRRM4 expression in castrate-resistant pancreatic cancer is highly correlated with neuroendocrine prostate cancer and poor survival.
Title: SRRM4 gene expression correlates with neuroendocrine prostate cancer.
a novel mechanism by which SRRM4 drives neuroendocrine prostate cancer progression via a pluripotency gene network, is reported.
Title: A novel mechanism of SRRM4 in promoting neuroendocrine prostate cancer development via a pluripotency gene network.
data indicate that SRRM4 regulates alternative RNA splicing of the Bif-1 gene that enables PCa cells resistant to apoptotic stimuli under anti-cancer therapies, and may contribute to AdPC progression into t-NEPC.
Title: Roles of Alternative RNA Splicing of the Bif-1 Gene by SRRM4 During the Development of Treatment-induced Neuroendocrine Prostate Cancer.
SRRM4 regulates alternative splicing programs to drive neuroendocrine prostate cancer progression (an aggressive subtype of castration-resistant prostate cancer) under androgen receptor pathway inhibition.
Title: SRRM4 Drives Neuroendocrine Transdifferentiation of Prostate Adenocarcinoma Under Androgen Receptor Pathway Inhibition.
Neuronal activity-dependent microexons are nSR100 targets and are misregulated in autism.
Title: Misregulation of an Activity-Dependent Splicing Network as a Common Mechanism Underlying Autism Spectrum Disorders.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH94152 (e-PCR)
- UniSTS:89348

AU048745 (e-PCR)
- UniSTS:145195

STS-H10302 (e-PCR)
- UniSTS:65592

AB046029 (e-PCR)
- UniSTS:480112

G62450 (e-PCR)
- UniSTS:139508

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of RNA splicing	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of alternative mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of alternative mRNA splicing, via spliceosome	ISS Inferred from Sequence or Structural Similarity more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: serine/arginine repetitive matrix protein 4

Names: medulloblastoma antigen MU-MB-2.76; neural-specific SR-related protein of 100 kDa; neural-specific serine/arginine repetitive splicing factor of 100 kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.