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Aliases for SMCR8 Gene

Aliases for SMCR8 Gene

  • Smith-Magenis Syndrome Chromosome Region, Candidate 8 2 3 5

External Ids for SMCR8 Gene

Previous GeneCards Identifiers for SMCR8 Gene

  • GC17P018463
  • GC17P019590
  • GC17P018161
  • GC17P018420
  • GC17P018421
  • GC17P018159
  • GC17P018218
  • GC17P017972
  • GC17P018317
  • GC17P018359

Summaries for SMCR8 Gene

GeneCards Summary for SMCR8 Gene

SMCR8 (Smith-Magenis Syndrome Chromosome Region, Candidate 8) is a Protein Coding gene. Diseases associated with SMCR8 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 SMCR8 Gene

Genomics for SMCR8 Gene

Regulatory Elements for SMCR8 Gene

Genomic Location for SMCR8 Gene

Chromosome:
17
Start:
18,315,280 bp from pter
End:
18,328,056 bp from pter
Size:
12,777 bases
Orientation:
Plus strand

Genomic View for SMCR8 Gene

Genes around SMCR8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMCR8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMCR8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMCR8 Gene

Proteins for SMCR8 Gene

  • Protein details for SMCR8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TEV9-SMCR8_HUMAN
    Recommended name:
    Smith-Magenis syndrome chromosomal region candidate gene 8 protein
    Protein Accession:
    Q8TEV9
    Secondary Accessions:
    • A5PKZ5
    • Q3ZCN0
    • Q6PJL3

    Protein attributes for SMCR8 Gene

    Size:
    937 amino acids
    Molecular mass:
    105022 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SMCR8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMCR8 Gene

Proteomics data for SMCR8 Gene at MOPED

Post-translational modifications for SMCR8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SMCR8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SMCR8 Gene

Domains & Families for SMCR8 Gene

Gene Families for SMCR8 Gene

Protein Domains for SMCR8 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for SMCR8 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SMCR8: view

No data available for UniProtKB/Swiss-Prot for SMCR8 Gene

Function for SMCR8 Gene

Phenotypes for SMCR8 Gene

GenomeRNAi human phenotypes for SMCR8:
genes like me logo Genes that share phenotypes with SMCR8: view

Animal Model Products

miRNA for SMCR8 Gene

miRTarBase miRNAs that target SMCR8

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMCR8 Gene

Localization for SMCR8 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMCR8 Gene COMPARTMENTS Subcellular localization image for SMCR8 gene
Compartment Confidence
nucleus 5
cytosol 1
vacuole 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SMCR8 Gene

Pathways & Interactions for SMCR8 Gene

SuperPathways for SMCR8 Gene

No Data Available

Interacting Proteins for SMCR8 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000385025%0d%0a9606.ENSP00000025008%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000359818%0d%0a
Selected Interacting proteins: ENSP00000385025 Q8TEV9-SMCR8_HUMAN for SMCR8 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for SMCR8 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SMCR8 Gene

Drugs & Compounds for SMCR8 Gene

No Compound Related Data Available

Transcripts for SMCR8 Gene

mRNA/cDNA for SMCR8 Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMCR8 Gene

No ASD Table

Relevant External Links for SMCR8 Gene

GeneLoc Exon Structure for
SMCR8
ECgene alternative splicing isoforms for
SMCR8

Expression for SMCR8 Gene

mRNA expression in normal human tissues for SMCR8 Gene

Protein differential expression in normal tissues from HIPED for SMCR8 Gene

This gene is overexpressed in Monocytes (23.7), Ovary (16.8), Frontal cortex (10.6), and Testis (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMCR8 Gene



SOURCE GeneReport for Unigene cluster for SMCR8 Gene Hs.592944

mRNA Expression by UniProt/SwissProt for SMCR8 Gene

Q8TEV9-SMCR8_HUMAN
Tissue specificity: Expressed in all tissues tested.
genes like me logo Genes that share expression patterns with SMCR8: view

Protein tissue co-expression partners for SMCR8 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SMCR8 Gene

Orthologs for SMCR8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SMCR8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMCR8 35
  • 99.72 (n)
  • 99.68 (a)
SMCR8 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMCR8 36
  • 85 (a)
OneToOne
SMCR8 35
  • 81.79 (n)
  • 82.32 (a)
dog
(Canis familiaris)
Mammalia SMCR8 35
  • 88.76 (n)
  • 91.01 (a)
SMCR8 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smcr8 16
Smcr8 35
  • 86.06 (n)
  • 89.95 (a)
Smcr8 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMCR8 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMCR8 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smcr8 35
  • 86.1 (n)
  • 90.05 (a)
chicken
(Gallus gallus)
Aves SMCR8 35
  • 71.9 (n)
  • 72.26 (a)
SMCR8 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMCR8 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smcr8 35
  • 63.42 (n)
  • 61.86 (a)
zebrafish
(Danio rerio)
Actinopterygii smcr8a 36
  • 55 (a)
OneToMany
smcr8b 36
  • 40 (a)
OneToMany
smcr8a 35
  • 60.21 (n)
  • 58.03 (a)
Species with no ortholog for SMCR8:
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SMCR8 Gene

ENSEMBL:
Gene Tree for SMCR8 (if available)
TreeFam:
Gene Tree for SMCR8 (if available)

Paralogs for SMCR8 Gene

No data available for Paralogs for SMCR8 Gene

Variants for SMCR8 Gene

Sequence variations from dbSNP and Humsavar for SMCR8 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs8080966 - 18,317,360(+) CTGCC(C/G/T)CTCTG reference, missense
rs1563632 - 18,317,456(-) GGAAG(C/T)GGATG reference, missense
rs12449313 - 18,317,696(+) TGCCA(A/G)CCCTT reference, missense
rs921985 -- 18,323,958(-) GAGCC(A/G)GTGGG utr-variant-3-prime
rs921986 -- 18,323,767(-) AGTAT(A/G)GGGAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SMCR8 Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER Inversion 15895083
nsv499114 OTHER Inversion 21111241
nsv833386 CNV Gain 17160897
nsv833387 CNV Loss 17160897
nsv428333 CNV Gain 18775914
nsv521075 CNV Loss 19592680
esv1004827 CNV Deletion 20482838

Variation tolerance for SMCR8 Gene

Residual Variation Intolerance Score: 36.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.54; 85.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMCR8 Gene

HapMap Linkage Disequilibrium report
SMCR8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMCR8 Gene

Disorders for SMCR8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMCR8 Gene - From: GeneCards

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • smith magenis syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SMCR8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SMCR8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMCR8
genes like me logo Genes that share disorders with SMCR8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMCR8 Gene

Publications for SMCR8 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 67
  2. Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease. (PMID: 23248642) Zhang D. … Aravind L. (Front Genet 2012) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PMID: 22678362) Stehling O. … Lill R. (Science 2012) 3

Products for SMCR8 Gene

Sources for SMCR8 Gene

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