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Aliases for SMCR5 Gene

Subcategory (RNA class) for SMCR5 Gene

antisense

Quality Score for this RNA gene is

3

Aliases for SMCR5 Gene

  • Smith-Magenis Syndrome Chromosome Region, Candidate 5 (Non-Protein Coding) 2 3 5
  • Smith-Magenis Syndrome Chromosome Region, Candidate 5 2
  • Non-Protein Coding RNA 34 2
  • NCRNA00034 3

External Ids for SMCR5 Gene

ORGUL Members for SMCR5 Gene

Previous GeneCards Identifiers for SMCR5 Gene

  • GC17M017997
  • GC17M019052
  • GC17M017623
  • GC17M017880
  • GC17M017882
  • GC17M017620
  • GC17U901068
  • GC17M017680

Summaries for SMCR5 Gene

GeneCards Summary for SMCR5 Gene

SMCR5 (Smith-Magenis Syndrome Chromosome Region, Candidate 5 (Non-Protein Coding)) is an RNA Gene, and is affiliated with the antisense RNA class. Diseases associated with SMCR5 include Smith-Magenis Syndrome.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMCR5 Gene

Genomics for SMCR5 Gene

Regulatory Elements for SMCR5 Gene

Enhancers for SMCR5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F018087 0.4 ENCODE 23.4 -308.7 -308688 1.9 CREB3L1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ZNF286B DRG2 SMCR5 LOC100419436 TVP23B LLGL1 FAM106A ENSG00000264885 FOXO3B SMCR8
GH17F017829 0.5 ENCODE 15.6 -51.5 -51473 3.1 HDGF MLX ARID4B DMAP1 ZNF48 YY1 ZNF121 SLC30A9 FOS ZNF263 TOM1L2 SMCR5 RAI1 LLGL1 ZNF286B GC17M017827 GC17P017834
GH17F017847 1.5 FANTOM5 Ensembl ENCODE 15.6 -70.6 -70572 5.0 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 KLF13 ZNF263 TOM1L2 ZNF286B SMCR5 MIR33B DRG2 LLGL1 RAI1 TOP3A PEMT RASD1
GH17F018410 0.6 ENCODE 15.4 -631.7 -631721 1.5 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF302 ZNF143 MFAP4 FOXO3B DRG2 SMCR8 SHMT1 TVP23B LLGL1 NOS2P2 YWHAEP2 TBC1D3P4
GH17F018181 1.1 FANTOM5 ENCODE 15.4 -405.6 -405551 8.0 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SMCR8 FOXO3B MYO15A DRG2 LLGL1 ZNF286B MIEF2 FAM106A NOS2P2 ENSG00000262202
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SMCR5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMCR5 Gene

Chromosome:
17
Start:
17,776,686 bp from pter
End:
17,779,529 bp from pter
Size:
2,844 bases
Orientation:
Minus strand

Genomic View for SMCR5 Gene

Genes around SMCR5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMCR5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMCR5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMCR5 Gene

Proteins for SMCR5 Gene

  • Protein details for SMCR5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TEV8-SMCR5_HUMAN
    Recommended name:
    Smith-Magenis syndrome chromosomal region candidate gene 5 protein
    Protein Accession:
    Q8TEV8

    Protein attributes for SMCR5 Gene

    Size:
    140 amino acids
    Molecular mass:
    15285 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SMCR5 Gene

Post-translational modifications for SMCR5 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SMCR5 Gene

Domains & Families for SMCR5 Gene

Protein Domains for SMCR5 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for SMCR5 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SMCR5: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SMCR5 Gene

Function for SMCR5 Gene

Phenotypes for SMCR5 Gene

GenomeRNAi human phenotypes for SMCR5:
genes like me logo Genes that share phenotypes with SMCR5: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SMCR5 Gene

Localization for SMCR5 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for SMCR5 Gene

Pathways & Interactions for SMCR5 Gene

SuperPathways for SMCR5 Gene

No Data Available

Interacting Proteins for SMCR5 Gene

Gene Ontology (GO) - Biological Process for SMCR5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SMCR5 Gene

Transcripts for SMCR5 Gene

mRNA/cDNA for SMCR5 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SMCR5 Gene

Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMCR5 Gene

No ASD Table

Relevant External Links for SMCR5 Gene

GeneLoc Exon Structure for
SMCR5
ECgene alternative splicing isoforms for
SMCR5

Expression for SMCR5 Gene

mRNA expression in normal human tissues for SMCR5 Gene

mRNA expression in normal human tissues for SMCR5 Gene

NURSA nuclear receptor signaling pathways regulating expression of SMCR5 Gene:

SMCR5

SOURCE GeneReport for Unigene cluster for SMCR5 Gene:

Hs.352643

mRNA Expression by UniProt/SwissProt for SMCR5 Gene:

Q8TEV8-SMCR5_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with SMCR5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SMCR5 Gene

Orthologs for SMCR5 Gene

Evolution for SMCR5 Gene

ENSEMBL:
Gene Tree for SMCR5 (if available)
TreeFam:
Gene Tree for SMCR5 (if available)

No data available for Orthologs for SMCR5 Gene

Paralogs for SMCR5 Gene

No data available for Paralogs for SMCR5 Gene

Variants for SMCR5 Gene

Sequence variations from dbSNP and Humsavar for SMCR5 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1006656 -- 17,779,170(-) CACCA(C/T)GGAAA intron-variant, nc-transcript-variant
rs10221191 -- 17,777,083(+) CTCCC(G/T)CATCC intron-variant, nc-transcript-variant
rs114729280 -- 17,777,832(+) ACTGC(C/T)GTCAG intron-variant, nc-transcript-variant
rs114879572 -- 17,777,115(+) GATCC(C/T)GTGTT intron-variant, nc-transcript-variant
rs115170585 -- 17,781,258(+) TGCAG(C/G)AGGGA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SMCR5 Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER inversion 15895083
nsv499114 OTHER inversion 21111241
nsv522668 CNV loss 19592680
nsv833385 CNV loss 17160897
nsv953838 CNV deletion 24416366

Relevant External Links for SMCR5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMCR5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for SMCR5 Gene

Disorders for SMCR5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMCR5 Gene - From: GeneCards

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • 17p11.2 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SMCR5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SMCR5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMCR5
genes like me logo Genes that share disorders with SMCR5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMCR5 Gene

Publications for SMCR5 Gene

  1. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PMID: 11997338) Bi W. … Lupski J.R. (Genome Res. 2002) 2 3 4 64

Products for SMCR5 Gene

Sources for SMCR5 Gene

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