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Aliases for NIPBL Gene

Aliases for NIPBL Gene

  • NIPBL, Cohesin Loading Factor 2 3 5
  • SCC2 Homolog 3 4
  • Delangin 3 4
  • IDN3 3 4
  • Sister Chromatid Cohesion 2 Homolog (Yeast) 2
  • Sister Chromatid Cohesion 2 Homolog 3
  • Nipped-B Homolog (Drosophila) 2
  • Nipped-B-Like Protein 3
  • Nipped-B Homolog 3
  • IDN3-B 3
  • CDLS1 3
  • CDLS 3
  • Scc2 3

External Ids for NIPBL Gene

Previous GeneCards Identifiers for NIPBL Gene

  • GC05P036912

Summaries for NIPBL Gene

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 cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for NIPBL Gene

NIPBL (NIPBL, Cohesin Loading Factor) is a Protein Coding gene. Diseases associated with NIPBL include Cornelia De Lange Syndrome 1 and Cornelia De Lange Syndrome. Among its related pathways are Mitotic Telophase/Cytokinesis and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include chromatin binding and protein C-terminus binding.

UniProtKB/Swiss-Prot for NIPBL Gene

  • Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others.

Gene Wiki entry for NIPBL Gene

Additional gene information for NIPBL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NIPBL Gene

Genomics for NIPBL Gene

GeneHancer (GH) Regulatory Elements for NIPBL Gene

Promoters and enhancers for NIPBL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I036873 Promoter/Enhancer 2.7 UCNEbase EPDnew Ensembl ENCODE dbSUPER 590.6 +0.2 206 6.4 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 NIPBL NIPBL-AS1 WDR70 NUP155 NADK2-AS1 ENSG00000250155 KRT18P31
GH05I036945 Promoter 0.5 EPDnew 550.2 +68.7 68686 0.1 NIPBL ENSG00000250155 KRT18P31 GC05P037069
GH05I037369 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 82.6 +494.1 494105 3 DMAP1 YY1 E2F8 ZNF143 SP3 MEF2D ZNF610 GLIS1 NBN NR2C1 NUP155 NIPBL WDR70 C5orf42 ENSG00000250155 GC05P037328
GH05I036238 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 59.8 -635.5 -635516 4.7 MLX FEZF1 DMAP1 YY1 E2F8 ZNF143 ZNF548 SP3 NFYC ZNF610 NADK2 NIPBL OFD1P17 RANBP3L NADK2-AS1 SLC1A3
GH05I036150 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 35.8 -721.6 -721570 9.4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 LMBRD2 SKP2 GC05P036156 RNU6-1305P NIPBL UGT3A2 ENSG00000251591 ENSG00000272103 NADK2 PIR31598
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NIPBL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NIPBL gene promoter:

Genomic Locations for NIPBL Gene

Genomic Locations for NIPBL Gene
chr5:36,876,759-37,066,413
(GRCh38/hg38)
Size:
189,655 bases
Orientation:
Plus strand
chr5:36,876,861-37,066,515
(GRCh37/hg19)

Genomic View for NIPBL Gene

Genes around NIPBL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NIPBL Gene

Proteins for NIPBL Gene

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

    Protein Symbol:
    Q6KC79-NIPBL_HUMAN
    Recommended name:
    Nipped-B-like protein
    Protein Accession:
    Q6KC79
    Secondary Accessions:
    • Q6KCD6
    • Q6N080
    • Q6ZT92
    • Q7Z2E6
    • Q8N4M5
    • Q9Y6Y3
    • Q9Y6Y4

    Protein attributes for NIPBL Gene

    Size:
    2804 amino acids
    Molecular mass:
    316051 Da
    Quaternary structure:
    • Interacts directly with CBX5 via the PxVxL motif (PubMed:15882967, PubMed:20562864). Interacts with SCC4 (via N-terminus) to form the cohesin loading complex (PubMed:16682347, PubMed:16802858, PubMed:21934712). Interacts with ZNF609 (via N-terminus) (By similarity). Interacts with the multiprotein complex Integrator (By similarity).
    SequenceCaution:
    • Sequence=AAH33847.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA77335.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=BAA77349.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=BAC86701.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAE45790.1; Type=Frameshift; Positions=278; Evidence={ECO:0000305};

    Alternative splice isoforms for NIPBL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NIPBL Gene

Post-translational modifications for NIPBL Gene

No Post-translational modifications

No data available for DME Specific Peptides for NIPBL Gene

Domains & Families for NIPBL Gene

Gene Families for NIPBL Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NIPBL Gene

Suggested Antigen Peptide Sequences for NIPBL Gene

Graphical View of Domain Structure for InterPro Entry

Q6KC79

UniProtKB/Swiss-Prot:

NIPBL_HUMAN :
  • 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.
  • Belongs to the SCC2/Nipped-B family.
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.
Family:
  • Belongs to the SCC2/Nipped-B family.
genes like me logo Genes that share domains with NIPBL: view

Function for NIPBL Gene

Molecular function for NIPBL Gene

UniProtKB/Swiss-Prot Function:
Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others.

Phenotypes From GWAS Catalog for NIPBL Gene

Gene Ontology (GO) - Molecular Function for NIPBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 16682347
GO:0008022 protein C-terminus binding IPI 17577209
GO:0036033 mediator complex binding IEA --
GO:0042826 histone deacetylase binding IPI 18854353
genes like me logo Genes that share ontologies with NIPBL: view
genes like me logo Genes that share phenotypes with NIPBL: view

Human Phenotype Ontology for NIPBL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NIPBL Gene

MGI Knock Outs for NIPBL:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NIPBL Gene

Localization for NIPBL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NIPBL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NIPBL gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 2
endoplasmic reticulum 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NIPBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IEA --
GO:0005634 nucleus IEA,IDA 16802858
GO:0005654 nucleoplasm TAS --
GO:0032039 integrator complex ISS --
GO:0032116 SMC loading complex IDA 16682347
genes like me logo Genes that share ontologies with NIPBL: view

Pathways & Interactions for NIPBL Gene

genes like me logo Genes that share pathways with NIPBL: view

Pathways by source for NIPBL Gene

Gene Ontology (GO) - Biological Process for NIPBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 18854353
GO:0001656 metanephros development NAS 15146185
GO:0003007 heart morphogenesis IMP 8291537
GO:0003151 outflow tract morphogenesis IMP 19242925
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with NIPBL: view

No data available for SIGNOR curated interactions for NIPBL Gene

Drugs & Compounds for NIPBL Gene

No Compound Related Data Available

Transcripts for NIPBL Gene

Unigene Clusters for NIPBL Gene

Nipped-B homolog (Drosophila):
Representative Sequences:

Clone Products

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

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:
SP6:
SP7:
SP8:

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: - -
SP6:
SP7: -
SP8:

ExUns: 47a · 47b · 47c ^ 48a · 48b
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for NIPBL Gene

GeneLoc Exon Structure for
NIPBL
ECgene alternative splicing isoforms for
NIPBL

Expression for NIPBL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NIPBL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NIPBL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.4) and Esophagus (12.1).

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



Protein tissue co-expression partners for NIPBL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NIPBL Gene:

NIPBL

SOURCE GeneReport for Unigene cluster for NIPBL Gene:

Hs.481927

mRNA Expression by UniProt/SwissProt for NIPBL Gene:

Q6KC79-NIPBL_HUMAN
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.

Evidence on tissue expression from TISSUES for NIPBL Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Blood(2.4)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NIPBL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NIPBL: view

No data available for mRNA differential expression in normal tissues for NIPBL Gene

Orthologs for NIPBL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NIPBL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NIPBL 33 34
  • 99.85 (n)
dog
(Canis familiaris)
Mammalia NIPBL 33 34
  • 96.08 (n)
cow
(Bos Taurus)
Mammalia NIPBL 33 34
  • 95.53 (n)
mouse
(Mus musculus)
Mammalia Nipbl 33 16 34
  • 92.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nipbl 33
  • 91.98 (n)
oppossum
(Monodelphis domestica)
Mammalia NIPBL 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 88 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
LOC427439 33
  • 84.36 (n)
lizard
(Anolis carolinensis)
Reptilia NIPBL 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nipbl 33
  • 78.77 (n)
zebrafish
(Danio rerio)
Actinopterygii nipbla 34
  • 82 (a)
OneToMany
nipblb 33 34
  • 68.72 (n)
NIPBL (2 of 3) 34
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nipped-B 33 34
  • 51.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009290 33
  • 28.58 (n)
worm
(Caenorhabditis elegans)
Secernentea pqn-85 34
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCC2 34 36
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9744 34
  • 46 (a)
OneToOne
Species where no ortholog for NIPBL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NIPBL Gene

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

Paralogs for NIPBL Gene

No data available for Paralogs for NIPBL Gene

Variants for NIPBL Gene

Sequence variations from dbSNP and Humsavar for NIPBL Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs10554564 benign, uncertain-significance, not specified, not provided 37,036,348(+) TATATATATATATATATATAT/TATATATATATATATAT/TATATATATATATATATAT/TATATATATATATATATATATAT/TATATATATATATATATATATATAT/TATATATATATATATATATATATATAT intron_variant
rs1057516034 pathogenic, Cornelia de Lange syndrome 1 37,052,453(+) C/T coding_sequence_variant, stop_gained
rs1057518944 likely-pathogenic, Congenital diaphragmatic hernia, Cryptorchidism, Hypospadias, Intrauterine growth retardation, Long philtrum, Microretrognathia, Pulmonary hypoplasia, Right ventricular hypertrophy, Single umbilical artery 36,984,990(+) TCT/T coding_sequence_variant, intron_variant, stop_gained
rs115668015 benign, likely-benign, not specified, Cornelia de Lange Syndrome 37,060,988(+) G/C coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, synonymous_variant
rs121918264 pathogenic, Cornelia de Lange syndrome 1 36,953,698(+) T/A genic_upstream_transcript_variant, initiator_codon_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv5632n100 CNV loss 25217958
dgv5633n100 CNV loss 25217958
esv2525217 CNV deletion 19546169
esv3570072 CNV loss 25503493
esv3570073 CNV loss 25503493
esv3570074 CNV loss 25503493
nsv1033562 CNV loss 25217958
nsv1033928 CNV loss 25217958
nsv1161231 CNV deletion 26073780
nsv525478 CNV loss 19592680
nsv597822 CNV loss 21841781
nsv830264 CNV loss 17160897
nsv964843 CNV duplication 23825009

Variation tolerance for NIPBL Gene

Residual Variation Intolerance Score: 0.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.46; 71.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NIPBL Gene

Human Gene Mutation Database (HGMD)
NIPBL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NIPBL

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

Disorders for NIPBL Gene

MalaCards: The human disease database

(10) MalaCards diseases for NIPBL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NIPBL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NIPBL_HUMAN
  • 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. {ECO:0000269 PubMed:15146185, ECO:0000269 PubMed:15146186, ECO:0000269 PubMed:15318302, ECO:0000269 PubMed:20124326, ECO:0000269 PubMed:20358602, ECO:0000269 PubMed:21934712, ECO:0000269 PubMed:23254390, ECO:0000269 PubMed:25447906}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NIPBL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NIPBL: view

No data available for Genatlas for NIPBL Gene

Publications for NIPBL Gene

  1. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. (PMID: 20358602) Pié J … Ramos FJ (American journal of medical genetics. Part A 2010) 3 4 22 44 58
  2. Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations. (PMID: 20124326) Park HD … Kim JK (Annals of clinical and laboratory science 2010) 3 4 22 58
  3. Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance. (PMID: 16802858) Seitan VC … Strachan T (PLoS biology 2006) 3 4 22 58
  4. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. (PMID: 15146185) Tonkin ET … Strachan T (Nature genetics 2004) 2 3 4 58
  5. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. (PMID: 15146186) Krantz ID … Jackson LG (Nature genetics 2004) 2 3 4 58

Products for NIPBL Gene

Sources for NIPBL Gene

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