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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMCHD1 Gene

protein-coding   GIFtS: 52
GCID: GC18P002649

Structural Maintenance Of Chromosomes Flexible Hinge Domain...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing
11 2
SMC Hinge Domain-Containing Protein 12 3
Structural Maintenance Of Chromosomes Flexible Hinge Domain-Containing
Protein 12
KIAA06503

External Ids:    HGNC: 290901   Entrez Gene: 233472   Ensembl: ENSG000001015967   OMIM: 6149825   UniProtKB: A6NHR93   

Export aliases for SMCHD1 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SMCHD1 Gene:
This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural
maintenance of chromosomes) protein family. (provided by RefSeq, Dec 2011)

GeneCards Summary for SMCHD1 Gene: 
SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) is a protein-coding gene. Diseases associated with SMCHD1 include facioscapulohumeral muscular dystrophy, and muscular dystrophy. GO annotations related to this gene include ATP binding.

UniProtKB/Swiss-Prot: SMHD1_HUMAN, A6NHR9
Function: Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated
with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and
requires the de novo methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_010859.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMCHD1 gene promoter:
         STAT1   C/EBPbeta   ISGF-3   AML1a   Pbx1a   RREB-1   STAT1beta   STAT1alpha   SRY   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SMCHD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMCHD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18p11.32   Ensembl cytogenetic band:  18p11.32   HGNC cytogenetic band: 18p11.32

SMCHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMCHD1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P002649:  view genomic region     (about GC identifiers)

Start:
2,655,737 bp from pter      End:
2,805,015 bp from pter
Size:
149,279 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SMHD1_HUMAN, A6NHR9 (See protein sequence)
Recommended Name: Structural maintenance of chromosomes flexible hinge domain-containing protein 1  
Size: 2005 amino acids; 226374 Da
Subcellular location: Chromosome (By similarity). Note=Localizes to Barr body (By similarity)
Sequence caution: Sequence=BAB15202.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BC035774; Type=Frameshift; Positions=1730; Sequence=CAH10538.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: O75141 Q6AHX6 Q6ZTQ8 Q9H6Q2 Q9UG39
Alternative splicing: 3 isoforms:  A6NHR9-1   A6NHR9-2   A6NHR9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SMCHD1: NX_A6NHR9

Explore proteomics data for SMCHD1 at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylated with SUMO1 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6NHR9

  • SMCHD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMCHD1 Protein Expression
    REFSEQ proteins: NP_056110.2  
    ENSEMBL proteins: 
     ENSP00000326603   ENSP00000462050   ENSP00000463049   ENSP00000464684   ENSP00000463036  
     ENSP00000261598  

    Human Recombinant Protein Products for SMCHD1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMCHD1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001740Barr body IEA--
    GO:0005694chromosome ----

    SMCHD1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR003594 HATPase_ATP-bd
     IPR010935 SMC_hinge

    Graphical View of Domain Structure for InterPro Entry A6NHR9

    ProtoNet protein and cluster: A6NHR9


    SMCHD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMHD1_HUMAN, A6NHR9
    Function: Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated
    with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and
    requires the de novo methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    SMCHD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SMCHD1:
     Increased homologous recombina 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Smchd1):
     cellular  embryogenesis  homeostasis/metabolism  integument  mortality/aging 
     pigmentation  reproductive system 

    SMCHD1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMCHD1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMCHD1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMCHD1 

    miRNA
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    miRTarBase miRNAs that target SMCHD1:
    hsa-mir-210 (MIRT003173)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMCHD1
    8/56 QIAGEN miScript miRNA Assays for microRNAs that regulate SMCHD1 (see all 56):
    hsa-miR-142-5p hsa-miR-548j hsa-miR-513a-5p hsa-miR-628-3p hsa-miR-507 hsa-miR-218 hsa-miR-298 hsa-miR-548a-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMCHD1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/777 Interacting proteins for SMCHD1 (A6NHR92, 3 ENSP000003266034) via UniProtKB, MINT, STRING, and/or I2D (see all 777)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBA5Q9GZZ92, 3MINT-7945693 MINT-7947479 I2D: score=1 
    SUMO1P631652, 3MINT-7947479 I2D: score=1 
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    SNW1Q135732, ENSP000002615314MINT-7945693 MINT-7947479 STRING: ENSP00000261531
    ABCF1Q8NE712MINT-7945693 MINT-7947479
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009048dosage compensation by inactivation of X chromosome ----
    GO:0051276chromosome organization IEA--
    GO:0060821inactivation of X chromosome by DNA methylation IEA--

    SMCHD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMCHD1 (SMHD1)

    Search CenterWatch for drugs/clinical trials and news about SMCHD1 / SMHD1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SMCHD1 gene: 
    NM_015295.2  

    Unigene Cluster for SMCHD1:

    Structural maintenance of chromosomes flexible hinge domain containing 1
    Hs.8118  [show with all ESTs]
    Unigene Representative Sequence: NM_015295
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000320876(uc002klm.4 uc002klk.4 uc002kll.4) ENST00000581226
    ENST00000585229 ENST00000577880 ENST00000577300 ENST00000584897 ENST00000581711
    ENST00000581383 ENST00000581631 ENST00000583441 ENST00000583344 ENST00000583800
    ENST00000261598
    miRNA
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    8/56 QIAGEN miScript miRNA Assays for microRNAs that regulate SMCHD1 (see all 56):
    hsa-miR-142-5p hsa-miR-548j hsa-miR-513a-5p hsa-miR-628-3p hsa-miR-507 hsa-miR-218 hsa-miR-298 hsa-miR-548a-5p
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    Additional mRNA sequence: 

    AB014550.1 AK025646.1 AK126324.1 AL080138.1 BC006008.1 BC035774.1 

    14 DOTS entries:

    DT.87016342  DT.100000267  DT.121089749  DT.65286917  DT.210931  DT.121089773  DT.99970379  DT.40236349 
    DT.92047044  DT.97799691  DT.100648745  DT.304003  DT.95370724  DT.102831469 

    24/194 AceView cDNA sequences (see all 194):

    F07765 AA873021 N33215 BG622203 AA649167 AA908499 AA580744 AA252798 
    AB014550 Z40849 AA731440 AA830149 BM471861 AI246145 CA450240 AK126324 
    AI424087 CA396530 CK905853 BM142025 AI249883 BQ130507 AL080138 AI032533 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SMCHD1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                                              -                                                                 -                       -   
    SP2:                                                              -                                                                                         -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                        -   

    ExUns: 24 ^ 25a · 25b
    SP1:  -               
    SP2:  -               
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for SMCHD1

    (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

    SMCHD1 expression in normal human tissues (normalized intensities)      SMCHD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGAACTAT
    SMCHD1 Expression
    About this image


    SMCHD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Intermediate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Mesonephric cells Mesonephros
             Mesonephros
     
     Gonad
             Mesonephric cells Mesonephros
     
     Testis (Reproductive System)

    See SMCHD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMCHD1

    SOURCE GeneReport for Unigene cluster: Hs.8118
        SABiosciences Custom PCR Arrays for SMCHD1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMCHD1

    (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

    This gene was present in the common ancestor of chordates.

    Orthologs for SMCHD1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smchd11 , 5 SMC hinge domain containing 11, 5 85.87(n)1
    86.84(a)1
      17 (41.87 cM)5
    743551  NM_028887.31  NP_083163.31 
     713444895 
    chicken
    (Gallus gallus)
    Aves SMCHD11 structural maintenance of chromosomes flexible hinge more 75.84(n)
    76.75(a)
      421057  XM_419144.3  XP_419144.3 
    lizard
    (Anolis carolinensis)
    Reptilia SMCHD16
    --
    Uncharacterized protein
    72(a)
    61(a)
    possible ortholog
    possible ortholog
    AAWZ02034579(7156-77277)
    4(42710737-42735190)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL880679.22   -- 75(n)    AL880679.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BQ074117.12   -- 73.48(n)    BQ074117.1 


    ENSEMBL Gene Tree for SMCHD1 (if available)
    TreeFam Gene Tree for SMCHD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/3616 SNPs in SMCHD1 are shown (see all 3616)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0690674
    Facioscapulohumeral muscular dystrophy 2 (FSHD2)4--see VAR_0690672 Y C mis40--------
    VAR_0690714
    Facioscapulohumeral muscular dystrophy 2 (FSHD2)4--see VAR_0690712 S N mis40--------
    VAR_0690694
    Facioscapulohumeral muscular dystrophy 2 (FSHD2)4--see VAR_0690692 C R mis40--------
    VAR_0690724
    Facioscapulohumeral muscular dystrophy 2 (FSHD2)4--see VAR_0690722 F S mis40--------
    VAR_0690704
    Facioscapulohumeral muscular dystrophy 2 (FSHD2)4--see VAR_0690702 P S mis40--------
    VAR_0690684
    Facioscapulohumeral muscular dystrophy 2 (FSHD2)4--see VAR_0690682 R P mis40--------
    rs3777578421,2
    C--2623586(+) AAATA-/AATAAATA 2 -- int1 cds10--------
    rs2022420471,2
    --2633000(+) TTTTT-/CTTTTT 1 -- int10--------
    rs1137242961,2
    C--2634997(+) TTAAC-/ATGTGTC 1 -- int11Minor allele frequency- AT:0.00CSA 2
    rs620841831,2
    C--2639626(+) TCTTTC/TTCTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for SMCHD1 (2655737 - 2805015 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SMCHD1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2716680CNV Deletion23290073
    esv2677635CNV Deletion23128226
    nsv909315CNV Loss21882294
    nsv909316CNV Gain21882294


    Human Gene Mutation Database (HGMD): SMCHD1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614982    OMIM disorders: --

    UniProtKB/Swiss-Prot: SMHD1_HUMAN, A6NHR9
  • Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]: A degenerative muscle disease
    characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The
    onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with
    impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the
    orbicularis oris and orbicularis oculi muscles. Note=The disease is caused by mutations affecting the gene
    represented in this entry. SMCHD1 mutations lead to DUX4 expression in somatic tissues, including muscle cells,
    when an haplotype on chromosome 4 is permissive for DUX4 expression. Ectopic expression of DUX4 in skeletal
    muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4
    can ultimately lead to cell death

  • 3 diseases for SMCHD1:    About MalaCards
    facioscapulohumeral muscular dystrophy    muscular dystrophy    breast cancer


    SMCHD1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SMCHD1
    Human Genome Epidemiology (HuGE) Navigator: SMCHD1 (1 document)

    Export disorders for SMCHD1 gene to outside databases

    (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 SMCHD1 gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with SMCHD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (1998)
    2. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. (PubMed id 23143600)1, 2 Lemmers R.J....van der Maarel S.M. (2012)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Human inactive X chromosome is compacted through a PRC 2-independent SMCHD1-HBiX1 pathway. (PubMed id 23542155)1 Nozawa R.S....Obuse C. (2013)
    5. Epigenetic regulator Smchd1 functions as a tumor suppr essor. (PubMed id 23269277)1 Leong H.S....Blewitt M.E. (2013)
    6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. Proteomic analysis of a4b1 integrin adhesion complexes reveals a-subunit-dependent protein recruitment. (PubMed id 22623428)1 Byron A....Humphries M.J. (2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    10. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23347 HGNC: 29090 AceView: KIAA0650.1 Ensembl:ENSG00000101596 euGenes: HUgn23347
    ECgene: SMCHD1 H-InvDB: SMCHD1

    (According to HUGE)
    About This Section
    HUGE: KIAA0650

    (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
    NameDescription
    PharmGKB entry for SMCHD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SMCHD1 gene:
    Search GeneIP for patents involving SMCHD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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