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

SMC1B Gene

protein-coding   GIFtS: 57
GCID: GC22M045739

Structural Maintenance Of Chromosomes 1B

(Previous names: SMC1 (structural maintenance of chromosomes 1, yeast)-like...)
(Previous symbol: SMC1L2)
Microbiology & Infectious Diseases Congress
  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 1B1 2     SMC1BETA2
SMC1L21 2 3     bK268H52
SMC1 (Structural Maintenance Of Chromosomes 1, Yeast)-Like 11 2     bK268H5.52
SMC-1-beta2 3     Mitosis-Specific Chromosome Segregation Protein Like Protein Beta2
SMC-1B2 3     SMC1 Structural Maintenance Of Chromosomes 1-Like 22
SMC Protein 1B2 3     Structural Maintenance Of Chromosomes Protein 1B2
SMC1 Structural Maintenance Of Chromosomes 1-Like 2 (Yeast)1     

External Ids:    HGNC: 111121   Entrez Gene: 271272   Ensembl: ENSG000000779357   OMIM: 6086855   UniProtKB: Q8NDV33   

Export aliases for SMC1B gene to outside databases

Previous GC identifers: GC22M044118 GC22M028686


(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 SMC1B Gene:
SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and
mitosis (3:Revenkova et al., 2001 (PubMed 11564881)).(supplied by OMIM, Mar 2008)

GeneCards Summary for SMC1B Gene: 
SMC1B (structural maintenance of chromosomes 1B) is a protein-coding gene. Diseases associated with SMC1B include pneumonia, and tuberculosis, and among its related super-pathways are Meiotic Synapsis and Cell Cycle, Mitotic. GO annotations related to this gene include DNA binding and ATP binding. An important paralog of this gene is SMC1A.

UniProtKB/Swiss-Prot: SMC1B_HUMAN, Q8NDV3
Function: Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but
not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the
organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome
movements. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The
cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At
anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The
meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from
chromatin during prophase I (By similarity)

Gene Wiki entry for SMC1B 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMC1B gene promoter:
         Bach1   SREBP-1c   Nkx2-5   HNF-3beta   C/EBPalpha   SREBP-1b   PPAR-gamma1   SREBP-1a   c-Myb   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMC1B promoter sequence
   Search SABiosciences Chromatin IP Primers for SMC1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMC1B


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

Entrez Gene cytogenetic band: 22q13.31   Ensembl cytogenetic band:  22q13.31   HGNC cytogenetic band: 22q13

SMC1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMC1B gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M045739:  view genomic region     (about GC identifiers)

Start:
45,739,944 bp from pter      End:
45,809,500 bp from pter
Size:
69,557 bases      Orientation:
minus 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: SMC1B_HUMAN, Q8NDV3 (See protein sequence)
Recommended Name: Structural maintenance of chromosomes protein 1B  
Size: 1235 amino acids; 143908 Da
Subunit: Forms a heterodimer with SMC3. Component of a meiosis-specific cohesin complex, probably composed of the
SMC1B and SMC3 heterodimer attached via their hinge domain, RAD21 (or its meiosis-specific related protein REC8),
which link them, and STAG3, which interacts with RAD21 or REC8 (By similarity)
Subcellular location: Nucleus. Chromosome (By similarity). Chromosome, centromere (By similarity). Note=Associates
with chromatin. In prophase I stage of meiosis, localizes along the AE of synaptonemal complexes. In
late-pachytene-diplotene, the bulk of protein dissociates from the chromosome arms probably because of
phosphorylation by PLK, except at centromeres, where cohesin complexes remain. Remains chromatin associated at
the centromeres up to metaphase II. At anaphase II, dissociates from centromeres, allowing chromosomes
segregation (By similarity)
Sequence caution: Sequence=BAC86266.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A0AV46 B0QY23 B0QY24 Q5TIC3 Q6ZUF9 Q9Y3G5
Alternative splicing: 3 isoforms:  Q8NDV3-1   Q8NDV3-2   Q8NDV3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SMC1B: NX_Q8NDV3

Explore proteomics data for SMC1B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NDV3

  • SMC1B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMC1B Protein Expression
    REFSEQ proteins: NP_683515.3  
    ENSEMBL proteins: 
     ENSP00000350036   ENSP00000385902  
    Reactome Protein details: Q8NDV3
    Human Recombinant Protein Products for SMC1B: 
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    Novus Biologicals SMC1B Protein
    Novus Biologicals SMC1B Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMC1B 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000775chromosome, centromeric region IEA--
    GO:0000795synaptonemal complex ----
    GO:0000800lateral element IEA--
    GO:0005694chromosome ----
    GO:0016020membrane ----

    SMC1B for ontologies           About GeneDecksing



    SMC1B Antibody Products: 
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    Cloud-Clone Corp. CLIAs for SMC1B


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SMC: Structural maintenance of chromosomes proteins

    4 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR003395 RecF/RecN/SMC
     IPR024704 SMC
     IPR010935 SMC_hinge

    Graphical View of Domain Structure for InterPro Entry Q8NDV3

    ProtoNet protein and cluster: Q8NDV3

    1 Blocks protein domain: IPB010935 SMCs flexible hinge

    UniProtKB/Swiss-Prot: SMC1B_HUMAN, Q8NDV3
    Domain: The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the
    heterotypic interaction with the corresponding domain of SMC3, forming a V-shaped heterodimer. The two heads of
    the heterodimer are then connected by different ends of the cleavable RAD21 or REC8 protein, forming a ring
    structure (By similarity)
    Similarity: Belongs to the SMC family. SMC1 subfamily


    SMC1B 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: SMC1B_HUMAN, Q8NDV3
    Function: Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but
    not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the
    organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome
    movements. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The
    cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At
    anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The
    meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from
    chromatin during prophase I (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    SMC1B for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Smc1b):
     cellular  endocrine/exocrine gland  normal  reproductive system 

    SMC1B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SMC1B: Smc1btm1Jess Smc1btm2.2Jess

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMC1B 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMC1B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMC1B 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMC1B 

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SMC1B:
    hsa-miR-31
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMC1B


    (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

    SuperPaths for SMC1B About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Meiotic Synapsis
    Meiotic Synapsis0.70
    Chromosome Maintenance0.56
    Meiosis0.70
    2Cell Cycle
    Cell Cycle0.84
    3Cell cycle
    Cell cycle0.59
    4Oocyte meiosis
    Oocyte meiosis0.35
    5Meiosis
    Meiosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SMC1B
        Meiosis


    4        Reactome Pathways for SMC1B
        Meiotic Synapsis
    Cell Cycle
    Meiosis
    Chromosome Maintenance


    2         Kegg Pathways  (Kegg details for SMC1B):
        Cell cycle
    Oocyte meiosis


    SMC1B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMC1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/42 Interacting proteins for SMC1B (Q8NDV33 ENSP000003500364) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMC3Q9UQE73, ENSP000003547204I2D: score=2 STRING: ENSP00000354720
    REC8O950723, ENSP000003086994I2D: score=1 STRING: ENSP00000308699
    CHPT1Q8WUD63I2D: score=1 
    BRCA1ENSP000003502834STRING: ENSP00000350283
    SGOL1ENSP000002637534STRING: ENSP00000263753
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0007062sister chromatid cohesion IEA--
    GO:0007126meiosis IEA--
    GO:0016192vesicle-mediated transport ----

    SMC1B 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 SMC1B

    Search CenterWatch for drugs/clinical trials and news about SMC1B

    (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 SMC1B gene: 
    NM_148674.3  

    Unigene Cluster for SMC1B:

    Structural maintenance of chromosomes 1B
    Hs.334176  [show with all ESTs]
    Unigene Representative Sequence: NM_148674
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357450(uc003bgc.3 uc003bgd.3) ENST00000404354(uc003bge.1)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SMC1B:
    hsa-miR-31
    SwitchGear 3'UTR luciferase reporter plasmidSMC1B 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMC1B

    Additional mRNA sequence: 

    AJ504806.2 AK125736.1 BC126208.1 

    5 DOTS entries:

    DT.40273013  DT.207836  DT.91746237  DT.91864298  DT.92416027 

    24/31 AceView cDNA sequences (see all 31):

    NM_148674 AJ504806 H55708 AL704843 AA641962 BX282082 AA641909 AK125736 
    BF888585 AA207011 BG187600 BG194018 BG208448 BG181498 BU585031 BG186119 
    AA204664 BG210019 BF377342 BE082988 BG191403 BG201132 BG221580 H55194 

    GeneLoc Exon Structure


    (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

    SMC1B expression in normal human tissues (normalized intensities)      SMC1B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SMC1B Expression
    About this image


    SMC1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Gonad
             XY Germ Cells Testis Cord
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
     
     Ovary (Reproductive System)
             XX Germ Cells Ovigerous Cord
     
     Endothelium (Cardiovascular System)
             blood vessel   
     
     Lymph (Hematopoietic System)
             LYMPH NODE   

    See SMC1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMC1B

    SOURCE GeneReport for Unigene cluster: Hs.334176
        SABiosciences Custom PCR Arrays for SMC1B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMC1B

    (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 animals and fungi.

    Orthologs for SMC1B gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smc1b1 , 5 structural maintenance of chromosomes 1B1, 5 85.76(n)1
    83.31(a)1
      15 (40.25 cM)5
    1405571  NM_080470.11  NP_536718.11 
     850646915 
    chicken
    (Gallus gallus)
    Aves SMC1B1 structural maintenance of chromosomes 1B 70.74(n)
    65.34(a)
      418243  XM_416467.3  XP_416467.2 
    lizard
    (Anolis carolinensis)
    Reptilia SMC1B6
    structural maintenance of chromosomes 1B
    65(a)
    1 ↔ 1
    5(84260163-84315585)
    zebrafish
    (Danio rerio)
    Actinopterygii smc1b1 structural maintenance of chromosomes 1B 58.11(n)
    53.52(a)
      797354  XM_001334221.1  XP_001334257.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SMC16
    SMC1
    40(a)
    1 → many
    3R(19884024-19888538)
    worm
    (Caenorhabditis elegans)
    Secernentea him-16
    Protein HIM-1, isoform a
    37(a)
    possible ortholog
    I(4951334-4957669)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMC16
    Subunit of the multiprotein cohesin complex, essen...
    26(a)
    1 → many
    VI(119429-123106)


    ENSEMBL Gene Tree for SMC1B (if available)
    TreeFam Gene Tree for SMC1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMC1B gene
    SMC1A2  
    2 SIMAP similar genes for SMC1B using alignment to 1 protein entry:     SMC1B_HUMAN:
    SMC1A    DKFZp686L19178

    SMC1B for paralogs           About GeneDecksing



    (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

    10/1344 SNPs in SMC1B are shown (see all 1344)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1838424661,2
    --45739473(+) GCACAG/TTGGCG 1 -- ds50010--------
    rs1125865681,2
    C,F--45739497(+) CTGCAG/ACCTCC 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1379341081,2
    --45739565(+) GTGCAC/TCCCAT 1 -- ds50010--------
    rs96146451,2
    C--45739599(+) TTTAGG/TAGAGA 1 -- ds50013Minor allele frequency- T:0.17NA 6
    rs766083191,2
    F--45739618(-) CCAACG/ATGGCA 1 -- ds50012Minor allele frequency- A:0.50NA 6
    rs96144581,2
    C,F--45739658(+) GTGATA/CCACCC 1 -- ds50014Minor allele frequency- C:0.25NA 8
    rs1885542291,2
    --45739725(+) GTCTTG/TTTCCA 1 -- ds50010--------
    rs21790581,2
    C,F,O,A,H--45739732(+) TCCATT/CTTGAA 1 -- ds500113Minor allele frequency- C:0.34EA NS NA 688
    rs134336771,2
    C,F,H--45739747(+) AAATGA/GAGTGG 1 -- ds50015Minor allele frequency- G:0.03NS EA WA 536
    rs1813183411,2
    --45739781(+) AATAAC/TGTTTG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SMC1B (45739944 - 45809500 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SMC1B:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv3651CNV Insertion18451855
    nsv834221CNV Loss17160897
    nsv471210CNV Gain18288195
    esv34218CNV Gain17911159
    nsv515690CNV Gain+Loss19592680
    nsv9921CNV Gain+Loss18304495
    dgv1411e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): SMC1B
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SMC1B
    DNA2.0 Custom Variant and Variant Library Synthesis for SMC1B

    (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: 608685    OMIM disorders: --

    2 diseases for SMC1B:    About MalaCards
    pneumonia    tuberculosis


    SMC1B for disorders           About GeneDecksing

    Genetic Association Database (GAD): SMC1B
    Human Genome Epidemiology (HuGE) Navigator: SMC1B (2 documents)

    Export disorders for SMC1B 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 SMC1B gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with SMC1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I....O'Brien K.P. (1999)
    2. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage he ad and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (2010)
    3. The evolution of SMC proteins: phylogenetic analysis and structural implications. (PubMed id 14660695)1, 2 Cobbe N. and Heck M.M.S. (2004)
    4. Novel meiosis-specific isoform of mammalian SMC1. (PubMed id 11564881)1, 3 Revenkova E....Jessberger R. (2001)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Epigenetic displacement of HP1 from heterochromatin b y HIV-1 Vpr causes premature sister chromatid separation. (PubMed id 21875947)1 Shimura M....Ishizaka Y. (2011)
    7. Identification of SUMOylated proteins in neuroblastoma cells after treatment with hydrogen peroxide or ascorbate. (PubMed id 21110914)1 Grant M.M. (2010)
    8. A genome-wide association study identifies a novel ma jor locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (2010)
    9. Evaluation of 172 candidate polymorphisms for associa tion with oligozoospermia or azoospermia in a large cohort of men of European d escent. (PubMed id 20378615)4 Aston K.I....Carrell D.T. (2010)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27127 HGNC: 11112 AceView: SMC1L2 Ensembl:ENSG00000077935 euGenes: HUgn27127
    ECgene: SMC1B Kegg: 27127 H-InvDB: SMC1B

    (According to HUGE)
    About This Section
      --

    (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 SMC1B 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 SMC1B gene:
    Search GeneIP for patents involving SMC1B

    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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