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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.

Additional gene information for SMCR5 Gene

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

GeneHancer (GH) Regulatory Elements for SMCR5 Gene

Promoters and enhancers for SMCR5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I017777 Enhancer 1 Ensembl ENCODE dbSUPER 550.8 +0.8 787 2.4 BCOR MZF1 ZMYM3 ZIC2 NR2F2 ZFP69B ZGPAT ZNF692 ZNF341 ZFP36 SMCR5 ENSG00000264167 GC17M017734 RAI1
GH17I018087 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 27.3 -308.7 -308687 1.9 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 DRG2 ENSG00000264885 ZNF286B RAI1 FOXO3B SMCR8 LOC100419436 FAM106A ENSG00000265511 SMCR5
GH17I017590 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.4 +187.6 187560 3.7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 PEMT ENSG00000264666 USP32P2 SMCR5 MPRIP DRG2 SMCR8 LOC644422 MPRIP-AS1 ENSG00000265511
GH17I018410 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 26.3 -632.3 -632272 2.8 SIN3A GLI4 ZNF2 ZNF302 KLF7 KLF13 SP3 YY2 REST TSHZ1 LINC02076 MAPK7 FOXO3B DRG2 SMCR8 ZNF286B SMCR5 SHMT1 ENSG00000264885 ENSG00000262202
GH17I017040 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15 +735.7 735665 6.1 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 MPRIP GC17P017043 GC17P017048 PIR46780 PIR43427 MPRIP-AS1 FLCN PIGL PLD6 NCOR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMCR5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMCR5 gene promoter:

Genomic Locations for SMCR5 Gene

Genomic Locations for SMCR5 Gene
chr17:17,776,686-17,779,529
(GRCh38/hg38)
Size:
2,844 bases
Orientation:
Minus strand
chr17:17,680,000-17,682,843
(GRCh37/hg19)

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 From GWAS Catalog 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

Inhibitory RNA 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 , Subcellular locations from the Human Protein Atlas (HPA) 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

Drugs & Compounds for SMCR5 Gene

No Compound Related Data Available

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:

Inhibitory RNA Products

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 Variation AA Info Type
rs1000433465 -- 17,777,299(-) C/A non_coding_transcript_variant
rs1000900907 -- 17,777,111(-) A/G non_coding_transcript_variant
rs1001002729 -- 17,778,558(-) C/T non_coding_transcript_variant
rs1001164565 -- 17,777,576(-) A/T non_coding_transcript_variant
rs1001472284 -- 17,777,846(-) G/A non_coding_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

Additional Variant Information 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
  • sms
- elite association - COSMIC cancer census association via MalaCards
Search SMCR5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 JR (Genome research 2002) 2 3 4 58

Products for SMCR5 Gene

Sources for SMCR5 Gene

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