Aliases for SMCR5 Gene

Subcategory (RNA class) for SMCR5 Gene

lncRNA

Aliases for SMCR5 Gene

External Ids 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) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with SMCR5 include Smith-Magenis Syndrome and Potocki-Lupski Syndrome.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMCR5 Gene

Genomics for SMCR5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMCR5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMCR5 on the GeneHancer Hub at the UCSC Golden Path

Top Transcription factor binding sites by QIAGEN in the SMCR5 gene promoter:
  • Brachyury
  • c-Ets-1
  • C/EBPalpha
  • CHOP-10
  • CUTL1
  • FOXF2
  • GATA-3
  • HEN1
  • HSF2
  • NRSF form 1

Genomic Locations for SMCR5 Gene

Latest Assembly
chr17:17,776,214-17,779,529
(GRCh38/hg38)
Size:
3,316 bases
Orientation:
Minus strand

Previous Assembly
chr17:17,680,000-17,682,843
(GRCh37/hg19 by Entrez Gene)
Size:
2,844 bases
Orientation:
Minus strand

chr17:17,680,000-17,682,843
(GRCh37/hg19 by Ensembl)
Size:
2,844 bases
Orientation:
Minus strand

Genomic View for SMCR5 Gene

Genes around SMCR5 on UCSC Golden Path with GeneCards custom track
SMCR5 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

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

Gene Families for SMCR5 Gene

Protein Domains for SMCR5 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for SMCR5 Gene

GenScript: Design optimal peptide antigens:
  • Smith-Magenis syndrome chromosomal region candidate gene 5 protein (SMCR5_HUMAN)
genes like me logo Genes that share domains with SMCR5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SMCR5 Gene

Function for SMCR5 Gene

Phenotypes From GWAS Catalog for SMCR5 Gene

Phenotypes for SMCR5 Gene

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

CRISPR products for research

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

PathCards logo

SuperPathways for SMCR5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SMCR5 Gene

None

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

Drugs & Compounds for SMCR5 Gene

No Compound Related Data Available

Transcripts for SMCR5 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for SMCR5 Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS000040501C_9606 lncRNA 2845 4

RefSeq: NR_024007,

Ensembl: ENST00000543475 (view in UCSC) ,

LNCipedia: SMCR5:1,

NONCODE: NONHSAT146103.2,

URS0000E9FFDD_9606 lncRNA 2845 1

LncBook: HSALNT0289401,

URS0001BDA5F3_9606 lncRNA 2844 1

LncBook: HSALNT0289401,

URS0001BD218C_9606 lncRNA 2566 1

LncBook: HSALNT0238061,

SMCR5 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for SMCR5 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :

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

No ASD Table

Relevant External Links for SMCR5 Gene

GeneLoc Exon Structure for
SMCR5

Expression for SMCR5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMCR5 Gene

mRNA expression in normal human tissues for SMCR5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SMCR5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for SMCR5 Gene

Disorders for SMCR5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SMCR5 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • sms
potocki-lupski syndrome
  • ptls
- 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

Products for SMCR5 Gene

Sources for SMCR5 Gene