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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 , CIViC 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
GH17G017847 1.9 FANTOM5 Ensembl ENCODE dbSUPER 27.4 -70.1 -70131 3.6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 ZNF143 ZNF286B USP32P2 SMCR5 TOM1L2 ENSG00000273018 LOC100419436 MIR33B LLGL1 ENSG00000264885 RAI1
GH17G018181 1.7 FANTOM5 ENCODE dbSUPER 28.4 -405.6 -405551 8.0 CREB3L1 MLX ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 ZNF286B SMCR8 SMCR5 FOXO3B MYO15A DRG2 LLGL1 ENSG00000264885 MIEF2 FAM106A
GH17G018087 1.2 ENCODE 36.3 -308.7 -308688 1.9 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ZNF286B SMCR5 ENSG00000264885 DRG2 LLGL1 ENSG00000273018 USP32P2 FLCN LOC100419436 FOXO3B
GH17G017748 2 FANTOM5 Ensembl ENCODE dbSUPER 20.3 +25.7 25694 10.3 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF143 ZNF286B USP32P2 ENSG00000264885 SMCR5 ENSG00000273018 LOC100419436 MPRIP-AS1 ENSG00000260647 TOM1L2 PEMT
GH17G018410 1.4 ENCODE dbSUPER 27.2 -631.7 -631721 1.5 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF302 ZNF143 SMCR5 FOXO3B DRG2 SMCR8 SHMT1 ZNF286B LLGL1 USP32P2 EVPLL ENSG00000264885
- Elite enhancer and/or Elite enhancer-gene association 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
rs1000433465 -- 17,777,299(+) CTCAC(A/C)AGCTA intron-variant, nc-transcript-variant
rs1000900907 -- 17,777,111(+) AGGGG(A/G)TCCCG intron-variant, nc-transcript-variant
rs1000934721 -- 17,776,834(+) GTTCA(-/T)TTTTT intron-variant, nc-transcript-variant
rs1001002729 -- 17,778,558(+) GACCC(C/T)GGCAC intron-variant, nc-transcript-variant
rs1001164565 -- 17,777,576(+) GCATG(A/T)GTCTT intron-variant, nc-transcript-variant

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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