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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NIPBL Gene

protein-coding GIFtS: 57
GCID: GC05P036876

Nipped-B homolog (Drosophila)

Explore 10 diseases affiliated with
NIPBL via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nipped-B Homolog (Drosophila)¹ ²		FLJ13354¹
IDN3¹ ² ³		FLJ13648¹
Scc2¹ ²		CDLS²
SCC2 Homolog² ³		IDN3-B²
CDLS1² ⁵		Delangin³
DKFZp434L1319¹		Nipped-B-Like Protein²
FLJ11203¹		Sister Chromatid Cohesion 2 Homolog²
FLJ12597¹		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:

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)

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006576.16

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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6KC79

NIPBL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_056199.2 NP_597677.2

ENSEMBL proteins:

ENSP00000282516 ENSP00000406266 ENSP00000421504 ENSP00000427646

Reactome Protein details: Q6KC79
Human Recombinant Protein Products:

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	Uscn Proteins for NIPBL

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	16802858
GO:0032116	SMC loading complex	IDA	16682347

NIPBL for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for NIPBL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NIPBL for domains About GeneDecksing

4 InterPro domains/families:

IPR011989 ARM-like

IPR024986 Nipped-B_C

IPR016024 ARM-type_fold

IPR026003 Cohesin_HEAT

Graphical View of Domain Structure for InterPro Entry Q6KC79

ProtoNet protein and cluster: Q6KC79

1 Blocks protein family: 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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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)

miRNA Products:		miRTarBase miRNAs that target NIPBL: hsa-mir-210 (MIRT003175)

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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 plasmid: NIPBL 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NIPBL

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

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

NIPBL for ontologies About GeneDecksing

Animal Models:
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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

M Phase

M Phase

1.00

Mitotic M-M/G1 phases

0.88

Cell Cycle

Cell Cycle

1.00

Cell Cycle, Mitotic

0.84

Cohesin Loading onto Chromatin

Cohesin Loading onto Chromatin

1.00

Mitotic Telophase/Cytokinesis

0.71

Pathway sources
See GeneCards unified pathways
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 Central^TM Interacting Genes and Proteins Networks for NIPBL

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

5/756 Interacting proteins for NIPBL (Q6KC79^{2, 3} ENSP00000282516⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 756)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EXOC2	Q96KP1²^,³	MINT-7945693 MINT-7947479 I2D: score=2
SMC1A	Q14683², ENSP00000323421⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000323421
CDC5L	Q99459², ENSP00000360532⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000360532
SMC3	Q9UQE7², ENSP00000354720⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000354720
SNW1	Q13573², ENSP00000261531⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000261531

About this table

Gene Ontology (GO): 5/34 biological process terms (GO ID links to tree view) (see all 34): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	18854353
GO:0001656	metanephros development	NAS	15146185
GO:0003007	heart morphogenesis	IMP	8291537
GO:0003151	outflow tract morphogenesis	IMP	19242925
GO:0006974	response to DNA damage stimulus	IMP	17468178

NIPBL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse 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 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for 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

9 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 ENST00000507919

miRNA Products:		OriGene 3'-UTR Clone (see all 2): NIPBL Browse OriGene MicroRNA Expression Plasmids
		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 plasmid: NIPBL 3' UTR sequence

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Additional cDNA 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):

BM456468 AW339587 AK126804 BF197994 BX640644 AW015116 AA287563 BQ929549

CB162827 AW772083 Z45821 AI566250 BQ000290 AI469725 AI567282 N62911

BQ049987 AJ627032 AA706337 BK005151 AA491052 AI371314 AI352504 BM676996

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGTATCTAT

About this image
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

SABiosciences Custom PCR Arrays for NIPBL

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NIPBL

(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 9/30 species (see all 30) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Nipbl^{1 , 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	--	89(a)	1 ↔ 1	GL343241.1(1064207-1169459)
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	24(a)	1 ↔ 1	II(240717-255182)
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, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs3822471^1,2	C,F,H,	non-pathogenic	36937969(+)	`ACAAAA/GTGAAA`	4	N S	mis¹		27		EA NA NS CSA WA EU	10210
rs1669445^1,2	C,F,H,	non-pathogenic	36938963(-)	`TTTTGT/CAGCAC`	4	/L	syn¹ ese³		16		MN NA NS EA WA EU	7209
rs80358349^1,2	C,F,	unknown	36928886(+)	`ACACCC/TATTAC`	4	P	syn¹		1		NA	4400
rs80358350^1,2	C,F,	unknown	36937913(+)	`AATGAG/TAGCAG`	4	E D	mis¹		1		NA	4482
rs80358359^1,2	C,F,	unknown	36938395(+)	`AAGACG/ATGACC`	4	/H /R	mis¹		2		NA EU	5847
rs80358354^1,2	C,F,	unknown	36959176(+)	`GACCTT/CATTAT`	4	/L	syn¹		2		WA NA	4648
rs72734611^1,2	C,F,	--	36828117(+)	`GGGAAG/AAGTCC`	2	--	us2k¹		1		NA	120
rs10066734^1,2	C,F,H,	--	36828205(+)	`GCTCAC/TTCCCC`	2	--	us2k¹		6		NS EA CSA WA	540
rs115453677^1,2	C,F,	--	36828379(+)	`TCGTCC/TCGGTT`	2	--	us2k¹		1		WA	118
rs200869279^1,2	C	--	36828490(+)	`TTTTAA/CAATTT`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NIPBL (36876861 - 37066515 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NIPBL
1 CNV: 99112
Human Gene Mutation Database (HGMD): NIPBL

Locus Specific Mutation Databases (LSDB): NIPBL

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NIPBL for disorders           About GeneDecksing

OMIM gene information: 608667
OMIM disorders: 122470
UniProtKB/Swiss-Prot: NIPBL_HUMAN, Q6KC79

Defects in NIPBL are the cause of Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]. CDLS is a clinically

heterogeneous developmental disorder associated with malformations affecting multiple systems. CDLS is characterized

by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation and various other malformations

including gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies

10 diseases for NIPBL: About MalaCards

cornelia de lange syndrome sc phocomelia syndrome limb reduction defect congenital diaphragmatic hernia

developmental disabilities hypertropia roberts syndrome intellectual disability

hernia colorectal cancer

4 diseases from the University of Copenhagen DISEASES database for NIPBL:

Cornelia de Lange syndrome Roberts syndrome Intellectual disability SC phocomelia syndrome

5 Novoseek 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

Cornelia de Lange Syndrome

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 83):
(articles sorted by number of sources associating them with NIPBL)

Utopia: connect your pdf to the dynamic
world of online information

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)
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)
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, 9} PiAc J....Ramos F.J. (2010)
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)
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)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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)
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. (PubMed id 15318302)^{1, 2} Gillis L.A.... Krantz I.D. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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

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

Intellectual Property for NIPBL gene
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Patent Information for NIPBL gene:
Search GeneIP for patents involving NIPBL

GeneCards and IP:
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