SMCR8 Gene
protein-coding GIFtS: 40
GCID: GC17P018218
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Smith-Magenis syndrome chromosome region, candidate 8
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Aliases
for SMCR8 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Smith-Magenis Syndrome Chromosome Region, Candidate 81 2 | | FLJ347161 | | Smith-Magenis Syndrome Chromosomal Region Candidate Gene 8 Protein2 |
Export aliases for SMCR8 gene to outside databasesPrevious GC identifers: GC17P018463 GC17P019590 GC17P018161 GC17P018420 GC17P018421 GC17P018159 GC17P017972 |
Summaries
for SMCR8 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for SMCR8 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010718.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SMCR8 gene promoter:
Elk-1 STAT1 Pax-2 STAT1beta Pax-2a Nkx2-5 STAT1alpha YY1 AREB6 Pax-2b
Other transcription factors
Search SABiosciences Chromatin IP Primers for SMCR8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMCR8 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17p11.2 Ensembl cytogenetic band: 17p11.2 HGNC cytogenetic band: 17p11.2SMCR8 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P018218: view genomic region
(about GC identifiers)
Start:
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18,218,594 bp from pter |
End:
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18,231,370 bp from pter |
Size:
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12,777 bases |
Orientation:
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plus strand |
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Proteins
for SMCR8 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SMCR8_HUMAN, Q8TEV9 (See
protein sequence)Recommended Name: Smith-Magenis syndrome chromosomal region candidate gene 8 protein Size: 937 amino acids; 105022 Da
Secondary accessions: A5PKZ5 Q3ZCN0 Q6PJL3Alternative splicing: 2 isoforms: Q8TEV9-1 Q8TEV9-2 Explore the universe of human proteins at neXtProt for SMCR8: NX_Q8TEV9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8TEV9
SMCR8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_658988.2
ENSEMBL proteins: ENSP00000385025
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
SMCR8 for ontologies About GeneDecksing
SMCR8 Antibody Products:
Assay Products for SMCR8: |
Protein
Domains /
Families
for SMCR8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SMCR8 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8TEV9ProtoNet protein and cluster: Q8TEV9 |
Function
for SMCR8 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMCR8 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMCR8
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SMCR8 (NM_144775) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMCR8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMCR8 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMCR8 |
|
Pathways & Interactions
for SMCR8 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMCR8
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for SMCR8 (Q8TEV93 ENSP000003850254) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for SMCR8 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for SMCR8
Search CenterWatch for drugs/clinical trials and news about SMCR8
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Transcripts
for SMCR8 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SMCR8 gene: NM_144775.2 Unigene Clusters for SMCR8: Smith-Magenis syndrome chromosome region, candidate 8 Hs.592944 [show with all ESTs], Hs.707728 Unigene Representative Sequences: NM_144775, AF4674401 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000406438(uc002gsy.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMCR8 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMCR8
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SMCR8 (NM_144775) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMCR8 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMCR8 |
Additional cDNA sequence: AF467440.1 9 DOTS entries: DT.120915249 DT.102836349 DT.100817283 DT.91707761 DT.418980 DT.95237313 DT.100817277 DT.120915256 DT.91760176 24/41 AceView cDNA sequences (see all 41): AA937720 NM_144775 AF467440 BE253278 BC001018 BP350281 BC005067 BC014179 BG396053 BP357896 CF137248 CF135659 BP871543 BU664758 BX489307 BP356903 BU430268 CB956262 BP356776 BP359172 BF919397 CD637197 BU931752 BE258613
GeneLoc Exon Structure
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Expression
for SMCR8 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SMCR8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See SMCR8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SMCR8
SOURCE GeneReport for Unigene clusters: Hs.592944 Hs.707728
UniProtKB/Swiss-Prot: SMCR8_HUMAN, Q8TEV9Tissue specificity: Expressed in all tissues tested
SABiosciences Custom PCR Arrays for SMCR8
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SMCR8
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SMCR8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMCR8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMCR8 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMCR8 |
Orthologs
for SMCR8 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of chordates.
Orthologs for SMCR8 gene from 4/13 species (see all 13) About this table
ENSEMBL Gene Tree for SMCR8 (if available)
TreeFam Gene Tree for SMCR8 (if available) |
Paralogs
for SMCR8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for SMCR8 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
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| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for SMCR8 (18218594 - 18231370 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SMCR8
1 Inversion: 0495 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SMCR8 |
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Disorders
/ Diseases
for SMCR8 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SMCR8 for disorders About GeneDecksing
1  disease for SMCR8: About MalaCardssmith-magenis syndrome
Export disorders for SMCR8 gene to outside databases
|
Publications
for SMCR8 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SMCR8 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with SMCR8) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PubMed id 11997338)1, 2, 3 Bi W....Lupski J.R. (2002)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
- Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)2 Olsen J.V....Mann M. (2006)
- Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
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External Searches for SMCR8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing SMCR8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing SMCR8 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SMCR8 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for SMCR8 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for SMCR8 gene:
Search GeneIP for patents involving SMCR8
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SMCR8 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for SMCR8 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SMCR8 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SMCR8 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SMCR8 | | OriGene 3'-UTR Clone for SMCR8 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMCR8 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMCR8 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for SMCR8 | | OriGene Custom Protein Services for SMCR8 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SMCR8 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SMCR8 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMCR8 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMCR8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMCR8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMCR8 |
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 | | | SMCR8 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMCR8 |
|  |  |  | | | | Search ThermoFisher Antibodies for SMCR8 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMCR8 |
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