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Aliases for SRRM4 Gene

Aliases for SRRM4 Gene

  • Serine/Arginine Repetitive Matrix 4 2 3 5
  • Neural-Specific SR-Related Protein Of 100 KDa 2 3 4
  • KIAA1853 2 3 4
  • Neural-Specific Serine/Arginine Repetitive Splicing Factor Of 100 KDa 3 4
  • Medulloblastoma Antigen MU-MB-2.76 3 4
  • NSR100 3 4
  • MU-MB-2.76 3

External Ids for SRRM4 Gene

Previous HGNC Symbols for SRRM4 Gene

  • KIAA1853

Previous GeneCards Identifiers for SRRM4 Gene

  • GC12P117903
  • GC12P119420
  • GC12P116428

Summaries for SRRM4 Gene

Entrez Gene Summary for SRRM4 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]

GeneCards Summary for SRRM4 Gene

SRRM4 (Serine/Arginine Repetitive Matrix 4) is a Protein Coding gene. Diseases associated with SRRM4 include Medulloblastoma. GO annotations related to this gene include mRNA binding.

UniProtKB/Swiss-Prot for SRRM4 Gene

  • Splicing factor specifically required for neural cell differentiation. Acts in conjuction with nPTB/PTBP2 by binding directly to its regulated target transcripts and promotes neural-specific exon inclusion in many genes that function in neural cell differentiation. Required to promote the inclusion of neural-specific exon 10 in nPTB/PTBP2, leading to increased expression of neural-specific nPTB/PTBP2. Also promotes the inclusion of exon 16 in DAAM1 in neuron extracts (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRRM4 Gene

Genomics for SRRM4 Gene

Regulatory Elements for SRRM4 Gene

Enhancers for SRRM4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SRRM4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SRRM4 Gene

Chromosome:
12
Start:
118,981,486 bp from pter
End:
119,163,053 bp from pter
Size:
181,568 bases
Orientation:
Plus strand

Genomic View for SRRM4 Gene

Genes around SRRM4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRRM4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRRM4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRRM4 Gene

Proteins for SRRM4 Gene

  • Protein details for SRRM4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A7MD48-SRRM4_HUMAN
    Recommended name:
    Serine/arginine repetitive matrix protein 4
    Protein Accession:
    A7MD48
    Secondary Accessions:
    • A8K5P6
    • B2RZH7
    • Q7Z5F0
    • Q96JH4

    Protein attributes for SRRM4 Gene

    Size:
    611 amino acids
    Molecular mass:
    68559 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB47482.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SRRM4 Gene

Proteomics data for SRRM4 Gene at MOPED

Post-translational modifications for SRRM4 Gene

Other Protein References for SRRM4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SRRM4 Gene

Domains & Families for SRRM4 Gene

Protein Domains for SRRM4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SRRM4 Gene

Graphical View of Domain Structure for InterPro Entry

A7MD48

UniProtKB/Swiss-Prot:

SRRM4_HUMAN :
  • Belongs to the nSR100 family.
Family:
  • Belongs to the nSR100 family.
genes like me logo Genes that share domains with SRRM4: view

No data available for Gene Families for SRRM4 Gene

Function for SRRM4 Gene

Molecular function for SRRM4 Gene

UniProtKB/Swiss-Prot Function:
Splicing factor specifically required for neural cell differentiation. Acts in conjuction with nPTB/PTBP2 by binding directly to its regulated target transcripts and promotes neural-specific exon inclusion in many genes that function in neural cell differentiation. Required to promote the inclusion of neural-specific exon 10 in nPTB/PTBP2, leading to increased expression of neural-specific nPTB/PTBP2. Also promotes the inclusion of exon 16 in DAAM1 in neuron extracts (By similarity).
genes like me logo Genes that share phenotypes with SRRM4: view

Animal Models for SRRM4 Gene

MGI Knock Outs for SRRM4:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SRRM4 Gene

Localization for SRRM4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRRM4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SRRM4 Gene COMPARTMENTS Subcellular localization image for SRRM4 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for SRRM4 Gene

Pathways & Interactions for SRRM4 Gene

SuperPathways for SRRM4 Gene

No Data Available

Interacting Proteins for SRRM4 Gene

Selected Interacting proteins: A7MD48-SRRM4_HUMAN for SRRM4 Gene via I2D

Symbol External ID(s) Details
CACNA1A

Gene Ontology (GO) - Biological Process for SRRM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IEA --
GO:0006397 mRNA processing IEA,ISS --
GO:0007399 nervous system development IEA,ISS --
GO:0008380 RNA splicing IEA --
GO:0043484 regulation of RNA splicing IEA,ISS --
genes like me logo Genes that share ontologies with SRRM4: view

No data available for Pathways by source and SIGNOR curated interactions for SRRM4 Gene

Drugs & Compounds for SRRM4 Gene

No Compound Related Data Available

Transcripts for SRRM4 Gene

Unigene Clusters for SRRM4 Gene

Serine/arginine repetitive matrix 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SRRM4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4
SP1: -
SP2: -
SP3:

Relevant External Links for SRRM4 Gene

GeneLoc Exon Structure for
SRRM4
ECgene alternative splicing isoforms for
SRRM4

Expression for SRRM4 Gene

mRNA expression in normal human tissues for SRRM4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SRRM4 Gene

This gene is overexpressed in Brain - Cerebellum (x13.4), Brain - Cerebellar Hemisphere (x12.6), Brain - Cortex (x5.7), Brain - Frontal Cortex (BA9) (x5.2), and Brain - Anterior cingulate cortex (BA24) (x4.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SRRM4 Gene



SOURCE GeneReport for Unigene cluster for SRRM4 Gene Hs.744964

mRNA Expression by UniProt/SwissProt for SRRM4 Gene

A7MD48-SRRM4_HUMAN
Tissue specificity: Specifically expressed in neuronal cells (at protein level). Expressed in the cerebellum.
genes like me logo Genes that share expression patterns with SRRM4: view

Protein tissue co-expression partners for SRRM4 Gene

- Elite partner

Primer Products

No data available for Protein differential expression in normal tissues for SRRM4 Gene

Orthologs for SRRM4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SRRM4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SRRM4 35
  • 89.97 (n)
  • 90.42 (a)
SRRM4 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SRRM4 35
  • 90.58 (n)
  • 92.31 (a)
SRRM4 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Srrm4 35
  • 85.2 (n)
  • 86.49 (a)
Srrm4 16
Srrm4 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SRRM4 35
  • 99.56 (n)
  • 99.67 (a)
SRRM4 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SRRM4 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SRRM4 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves SRRM4 35
  • 66.02 (n)
  • 61.55 (a)
-- 36
  • 61 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SRRM4 36
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii SRRM4 36
  • 52 (a)
OneToOne
Species with no ortholog for SRRM4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SRRM4 Gene

ENSEMBL:
Gene Tree for SRRM4 (if available)
TreeFam:
Gene Tree for SRRM4 (if available)

Paralogs for SRRM4 Gene

No data available for Paralogs for SRRM4 Gene

Variants for SRRM4 Gene

Sequence variations from dbSNP and Humsavar for SRRM4 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs7297606 - 119,130,791(+) GCCCA(A/G)TCAAC nc-transcript-variant, reference, missense
rs2723880 - 119,151,157(+) GTCCC(A/C/G)ATCCC nc-transcript-variant, reference, missense
rs2555273 - 119,156,601(-) GCTGC(A/G/T)GCTGG nc-transcript-variant, reference, missense
rs1976923 -- 119,010,069(-) tctca(A/G)gaaag intron-variant
rs7133325 -- 118,986,045(+) GCCCT(C/G)TCCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SRRM4 Gene

Variant ID Type Subtype PubMed ID
nsv899549 CNV Gain 21882294
nsv438238 CNV Loss 16468122
esv2746456 CNV Deletion 23290073
esv2659059 CNV Deletion 23128226
dgv309n67 CNV Loss 20364138
esv275551 CNV Gain+Loss 21479260
esv2665881 CNV Deletion 23128226
esv2669850 CNV Deletion 23128226
nsv529044 CNV Loss 19592680
nsv455725 CNV Loss 19166990
nsv521985 CNV Loss 19592680
nsv902 CNV Loss 18451855
nsv899550 CNV Gain 21882294

Variation tolerance for SRRM4 Gene

Residual Variation Intolerance Score: 58.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.70; 91.48% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SRRM4 Gene

Disorders for SRRM4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SRRM4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
medulloblastoma
  • medulloblastoma, desmoplastic
- elite association - COSMIC cancer census association via MalaCards
Search SRRM4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SRRM4

Genetic Association Database (GAD)
SRRM4
Human Genome Epidemiology (HuGE) Navigator
SRRM4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRRM4
genes like me logo Genes that share disorders with SRRM4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SRRM4 Gene

Publications for SRRM4 Gene

  1. Regulation of vertebrate nervous system alternative splicing and development by an SR-related protein. (PMID: 19737518) Calarco J.A. … Blencowe B.J. (Cell 2009) 2 3 4 67
  2. A highly conserved program of neuronal microexons is misregulated in autistic brains. (PMID: 25525873) Irimia M. … Blencowe B.J. (Cell 2014) 3
  3. The small cell lung cancer-specific isoform of RE1-silencing transcription factor (REST) is regulated by neural-specific Ser/Arg repeat-related protein of 100 kDa (nSR100). (PMID: 23928058) Shimojo M. … Ito S. (Mol. Cancer Res. 2013) 3
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  5. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. (PMID: 21078624) Kahle J.J. … Zoghbi H.Y. (Hum. Mol. Genet. 2011) 3

Products for SRRM4 Gene

Sources for SRRM4 Gene

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