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

NIPBL Gene

protein-coding   GIFtS: 62
GCID: GC05P036876

Nipped-B Homolog (Drosophila)

  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
Nipped-B Homolog (Drosophila)1 2     IDN3-B2
IDN32 3     Scc22
SCC2 Homolog2 3     delangin2
CDLS12 5     Nipped-B-Like Protein2
Sister Chromatid Cohesion 2 Homolog (Yeast)1     Sister Chromatid Cohesion 2 Homolog2
CDLS2     Delangin3

External Ids:    HGNC: 288621   Entrez Gene: 258362   Ensembl: ENSG000001641907   OMIM: 6086675   UniProtKB: Q6KC793   

Export aliases for NIPBL gene to outside databases

Previous GC identifer: GC05P036912


(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 NIPBL Gene:
This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister
chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote
enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins
with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a
bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with
chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange
syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and
mental retardation. Two transcript variants encoding different isoforms have been found for this gene. (provided
by RefSeq, Jul 2008)

GeneCards Summary for NIPBL Gene: 
NIPBL (Nipped-B homolog (Drosophila)) is a protein-coding gene. Diseases associated with NIPBL include cornelia de lange syndrome, and nipbl-related cornelia de lange syndrome, and among its related super-pathways are Mitotic M-M/G1 phases and Cell Cycle, Mitotic. GO annotations related to this gene include chromatin binding and protein N-terminus binding.

UniProtKB/Swiss-Prot: NIPBL_HUMAN, Q6KC79
Function: Probably plays a structural role in chromatin. Involved in sister chromatid cohesion, possibly by
interacting with the cohesin complex (By similarity)

Gene Wiki entry for NIPBL 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_000005.9  NT_006576.16  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NIPBL gene promoter:
         MAZR   FOXO3   AP-2gamma   Egr-4   C/EBPalpha   CHOP-10   FOXO3a   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): NIPBL promoter sequence
   Search SABiosciences Chromatin IP Primers for NIPBL

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


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

Entrez Gene cytogenetic band: 5p13.2   Ensembl cytogenetic band:  5p13.2   HGNC cytogenetic band: 5p13.2

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P036876:  view genomic region     (about GC identifiers)

Start:
36,876,861 bp from pter      End:
37,066,515 bp from pter
Size:
189,655 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: NIPBL_HUMAN, Q6KC79 (See protein sequence)
Recommended Name: Nipped-B-like protein  
Size: 2804 amino acids; 316051 Da
Subunit: Interacts directly with CBX5 via the PxVxL motif
Subcellular location: Nucleus (By similarity)
Developmental stage: In embryos, it is expressed in developing limbs and later in cartilage primordia of the ulna
and of various hand bones. Sites of craniofacial expression include the cartilage primordium of the basioccipital
and basisphenoid skull bones and elsewhere in the head and face, including a region encompassing the mesenchyme
adjacent to the cochlear canal. Also expressed in the spinal column, notochord and surface ectoderm sclerotome
and what seem to be migrating myoblasts. Expressed in the developing heart in the atrial and ventricular
myocardium and in the ventricular tubeculae but absent in the endocardial cushions. Also expressed in the
developing esophagus, trachea and midgut loops, in the bronchi of the lung and in the tubules of the metanephros.
Expression in organs and tissues not typically affected in CDL (e.g. the developing trachea, bronchi, esophagus,
heart and kidney) may reflect a bias towards underreporting of more subtle aspects of the phenotype or problems
that typically present later in life. Expressed in the mesenchyme surrounding the cochlear canal possibly
reflecting the hearing impairment commonly found. Weakly or not expressed in embryonic brain
Sequence caution: Sequence=AAH33847.1; Type=Erroneous initiation; Sequence=BAA77335.1; Type=Miscellaneous
discrepancy; Note=Chimeric cDNA; Sequence=BAA77349.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA;
Sequence=BAC86701.1; Type=Erroneous initiation; Sequence=CAE45790.1; Type=Frameshift; Positions=278;
Secondary accessions: Q6KCD6 Q6N080 Q6ZT92 Q7Z2E6 Q8N4M5 Q9Y6Y3 Q9Y6Y4
Alternative splicing: 3 isoforms:  Q6KC79-1   Q6KC79-2   Q6KC79-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NIPBL: NX_Q6KC79

Explore proteomics data for NIPBL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6KC79

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

    NIPBL Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_056199.2  NP_597677.2  

    ENSEMBL proteins: 
     ENSP00000282516   ENSP00000406266   ENSP00000421504  
    Reactome Protein details: Q6KC79
    Human Recombinant Protein Products for NIPBL: 
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    Cloud-Clone Corp. Proteins for NIPBL 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16802858
    GO:0005654nucleoplasm TAS--
    GO:0032116SMC loading complex IDA16682347

    NIPBL for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for NIPBL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR026003 Cohesin_HEAT
     IPR024986 Nipped-B_C
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q6KC79

    ProtoNet protein and cluster: Q6KC79

    1 Blocks protein domain: IPB000357 HEAT repeat

    UniProtKB/Swiss-Prot: NIPBL_HUMAN, Q6KC79
    Domain: Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow
    domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the
    chromoshadow domain
    Similarity: Belongs to the SCC2/Nipped-B family
    Similarity: Contains 5 HEAT repeats


    NIPBL 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: NIPBL_HUMAN, Q6KC79
    Function: Probably plays a structural role in chromatin. Involved in sister chromatid cohesion, possibly by
    interacting with the cohesin complex (By similarity)

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI16682347
    GO:0008022protein C-terminus binding IPI17577209
    GO:0036033mediator complex binding IEA--
         
    NIPBL for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nipbl):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     growth/size  hearing/vestibular/ear  immune system  limbs/digits/tail  mortality/aging 
     nervous system  skeleton  vision/eye 

    NIPBL for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NIPBL 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NIPBL 
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    miRNA
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    miRTarBase miRNAs that target NIPBL:
    hsa-mir-210 (MIRT003175)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NIPBL
    8/127 QIAGEN miScript miRNA Assays for microRNAs that regulate NIPBL (see all 127):
    hsa-miR-194* hsa-miR-323-3p hsa-miR-4254 hsa-miR-607 hsa-miR-3607-3p hsa-miR-300 hsa-miR-376b hsa-miR-188-5p
    SwitchGear 3'UTR luciferase reporter plasmidNIPBL 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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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

    SuperPaths for NIPBL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1M Phase
    M Phase0.88
    Mitotic M-M/G1 phases0.88
    2Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    3Cohesin Loading onto Chromatin
    Cohesin Loading onto Chromatin0.71
    Mitotic Telophase/Cytokinesis0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6        Reactome Pathways for NIPBL (see all 6)
        Cohesin Loading onto Chromatin
    Mitotic Telophase/Cytokinesis
    Cell Cycle
    M Phase
    Mitotic M-M/G1 phases



    NIPBL for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/793 Interacting proteins for NIPBL (Q6KC792, 3 ENSP000002825164) via UniProtKB, MINT, STRING, and/or I2D (see all 793)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOC2Q96KP12, 3MINT-7945693 MINT-7947479 I2D: score=2 
    SMC1AQ146832, ENSP000003234214MINT-7945693 MINT-7947479 STRING: ENSP00000323421
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    SMC3Q9UQE72, ENSP000003547204MINT-7945693 MINT-7947479 STRING: ENSP00000354720
    SNW1Q135732, ENSP000002615314MINT-7945693 MINT-7947479 STRING: ENSP00000261531
    About this table

    Gene Ontology (GO): 5/36 biological process terms (GO ID links to tree view) (see all 36):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA18854353
    GO:0000278mitotic cell cycle TAS--
    GO:0000910cytokinesis ----
    GO:0001656metanephros development NAS15146185
    GO:0003007heart morphogenesis IMP8291537

    NIPBL 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 NIPBL

    Search CenterWatch for drugs/clinical trials and news about NIPBL

    (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 NIPBL gene (2 alternative transcripts): 
    NM_015384.4  NM_133433.3  

    Unigene Cluster for NIPBL:

    Nipped-B homolog (Drosophila)
    Hs.481927  [show with all ESTs]
    Unigene Representative Sequence: NM_015384
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000282516(uc003jkl.4 uc003jkk.4) ENST00000448238 ENST00000505998
    ENST00000504430(uc003jkm.1) ENST00000503274 ENST00000509429 ENST00000514335(uc003jkn.3)
    ENST00000513819
    miRNA
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    8/127 QIAGEN miScript miRNA Assays for microRNAs that regulate NIPBL (see all 127):
    hsa-miR-194* hsa-miR-323-3p hsa-miR-4254 hsa-miR-607 hsa-miR-3607-3p hsa-miR-300 hsa-miR-376b hsa-miR-188-5p
    SwitchGear 3'UTR luciferase reporter plasmidNIPBL 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NIPBL
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NIPBL

    Additional mRNA sequence: 

    AJ627032.1 AJ640137.1 AK002065.1 AK022659.1 AK023416.1 AK126804.1 AK290347.1 AL137726.1 
    AY726600.1 BC032711.1 BC033847.1 BC131490.1 BC146821.1 BX538177.1 BX538178.1 BX640644.1 

    18 DOTS entries:

    DT.97794930  DT.101957330  DT.453704  DT.97760558  DT.95208058  DT.100892259  DT.92433347  DT.100892249 
    DT.86846283  DT.91996418  DT.120822286  DT.120822287  DT.120822352  DT.429552  DT.86858693  DT.92009977 
    DT.92433335  DT.97774789 

    24/237 AceView cDNA sequences (see all 237):

    CB162827 BM676996 Z45821 AW665234 BM449960 AK126804 BF197994 NM_015384 
    NM_133433 BE047147 AW015116 AW058609 AA782599 BX092252 CA445139 BQ020447 
    BQ929549 AK023416 BQ723324 CB854673 BU625043 AW339587 AI655364 CA415598 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for NIPBL (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                                                                          -                                                                                 
    SP2:                                                                          -                                                                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40a · 40b ^ 41 ^ 42a · 42b ^ 43 ^ 44 ^ 45a · 45b · 45c ^ 46 ^
    SP1:        -                                                                                                     -                                             
    SP2:        -                                                                                                     -                                             
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                              -                 -                           

    ExUns: 47a · 47b · 47c ^ 48a · 48b
    SP1:        -     -               
    SP2:                              
    SP3:                              
    SP4:              -               
    SP5:                              


    ECgene alternative splicing isoforms for NIPBL

    (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

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


    NIPBL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Osteochondro Mesenchymal Cells Cervical Vertebrae
             sensory organ/ear/inner ear   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/midbrain   
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Osteochondro Mesenchymal Cells Cervical Vertebrae
             sensory organ/ear/inner ear   
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             limb/hindlimb   
     
     Somite (Muscoskeletal System)    fully expand to see all 2 entries
             Lumbar Mesenchymal Sclerotome

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

    SOURCE GeneReport for Unigene cluster: Hs.481927

    UniProtKB/Swiss-Prot: NIPBL_HUMAN, Q6KC79
    Tissue specificity: Widely expressed. Highly expressed in heart, skeletal muscle, fetal and adult liver, fetal and
    adult kidney. Expressed at intermediates level in thymus, placenta, peripheral leukocyte and small intestine.
    Weakly or not expressed in brain, colon, spleen and lung

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    (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 eukaryotes.

    Orthologs for NIPBL gene from 10/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nipbl1 , 5 Nipped-B homolog (Drosophila)1, 5 92.63(n)1
    96.89(a)1
      15 (3.82 cM)5
    711751  NM_027707.21  NP_081983.21 
     82912255 
    chicken
    (Gallus gallus)
    Aves NIPBL1 Nipped-B homolog (Drosophila) 84.48(n)
    89.78(a)
      427439  XM_425012.3  XP_425012.3 
    lizard
    (Anolis carolinensis)
    Reptilia NIPBL6
    Uncharacterized protein
    88(a)
    1 ↔ 1
    GL343241.1(1064207-1169539)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU911385.12   -- 76.08(n)    BU911385.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570653682   -- 76.33(n)    57065368 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nipped-B1 CG17704-PE 50.75(n)
    42.44(a)
      3355136  NM_001169581.1  NP_001163052.1 
    worm
    (Caenorhabditis elegans)
    Secernentea pqn-856
    Nipped-B-like protein pqn-85
    26(a)
    1 ↔ 1
    II(240717-255182)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SCC2(YDR180W)4 Subunit of cohesin loading factor (Scc2p-Scc4p), a more   --   4(821295-825776) 851761  NP_010466.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EMB27731 cohesin loading factor subunit SCC2 44.17(n)
    30.2(a)
      831407  NM_001203388.1  NP_001190317.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g01104001 hypothetical protein 40.84(n)
    25.58(a)
      4342227  NM_001065267.1  NP_001058732.2 


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

    10/3498 SNPs in NIPBL are shown (see all 3498)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0216014
    Cornelia de Lange syndrome 1 (CDLS1)4--see VAR_0216012 D V mis40--------
    VAR_0216084
    Cornelia de Lange syndrome 1 (CDLS1)4--see VAR_0216082 Y H mis40--------
    VAR_0216044
    Cornelia de Lange syndrome 1 (CDLS1)4--see VAR_0216042 R H mis40--------
    VAR_0216034
    Cornelia de Lange syndrome 1 (CDLS1)4--see VAR_0216032 R C mis40--------
    VAR_0195204
    Cornelia de Lange syndrome 1 (CDLS1)4--see VAR_0195202 L R mis40--------
    VAR_0215994
    Cornelia de Lange syndrome 1 (CDLS1)4--see VAR_0215992 L P mis40--------
    VAR_0216024
    Cornelia de Lange syndrome 1 (CDLS1)4--see VAR_0216022 R T mis40--------
    VAR_0216074
    Cornelia de Lange syndrome 1 (CDLS1)4--see VAR_0216072 A T mis40--------
    VAR_0361644
    A breast cancer sample4--see VAR_0361642 E K mis40--------
    VAR_0216054
    Cornelia de Lange syndrome 1 (CDLS1)4--see VAR_0216052 G R mis40--------

    HapMap Linkage Disequilibrium report for NIPBL (36876861 - 37066515 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for NIPBL:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2525217CNV Deletion19546169
    nsv880502CNV Loss21882294
    dgv6036n71CNV Loss21882294
    nsv525478CNV Loss19592680
    nsv830264CNV Loss17160897


    Human Gene Mutation Database (HGMD): NIPBL

    Locus Specific Mutation Databases (LSDB): NIPBL
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608667   
    OMIM disorders: 122470  
    UniProtKB/Swiss-Prot: NIPBL_HUMAN, Q6KC79
  • Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]: A form of Cornelia de Lange syndrome, a clinically
    heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by
    facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal
    dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 13 diseases for NIPBL:    About MalaCards
    cornelia de lange syndrome    nipbl-related cornelia de lange syndrome    limb reduction defect    5p13 microduplication syndrome
    sc phocomelia syndrome    hypertropia    roberts syndrome    developmental disabilities
    congenital diaphragmatic hernia    hernia    mental retardation    intellectual disability
    colorectal cancer

    4 diseases from the University of Copenhagen DISEASES database for NIPBL:
    Cornelia de Lange syndrome     Roberts syndrome     Intellectual disability     SC phocomelia syndrome

    NIPBL for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for NIPBL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cornelia de lange syndrome 98.3 11 15373324 (1), 16799922 (1), 16802858 (1), 17965872 (1) (see all 11)
    developmental disabilities 73.1 2 15373324 (1), 11391654 (1)
    mental retardation 72.7 1 16213388 (1)
    growth retardation 59.7 3 16802858 (1), 17221863 (1), 16213388 (1)
    chromosomal aberrations 36.6 1 11391654 (1)

    GeneTests: NIPBL
    GeneReviews: NIPBL
    Genetic Association Database (GAD): NIPBL
    Human Genome Epidemiology (HuGE) Navigator: NIPBL (2 documents)

    Export disorders for NIPBL 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 NIPBL gene, integrated from 9 sources (see all 87):
    (articles sorted by number of sources associating them with NIPBL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations and variants in the cohesion factor genes N IPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lan ge syndrome. (PubMed id 20358602)1, 2, 4, 9 PiAc J....Ramos F.J. (2010)
    2. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. (PubMed id 15146185)1, 2, 3 Tonkin E.T.... Strachan T. (2004)
    3. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. (PubMed id 15146186)1, 2, 3 Krantz I.D....Jackson L.G. (2004)
    4. Human POGZ modulates dissociation of HP1alpha from mi totic chromosome arms through Aurora B activation. (PubMed id 20562864)1, 2 Nozawa R.S....Obuse C. (2010)
    5. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    6. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    8. The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. (PubMed id 15882967)1, 2 Lechner M.S.... Rauscher F.J. III (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 25836 HGNC: 28862 AceView: NIPBL Ensembl:ENSG00000164190 euGenes: HUgn25836
    ECgene: NIPBL H-InvDB: NIPBL

    (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 NIPBL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NIPBL Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NIPBL

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

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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