NIPBL - NIPBL cohesin loading factor Gene

Homo sapiens

Also known as CDLS; IDN3; Scc2; CDLS1; IDN3-B

Gene ID: 25836 | Gene type: protein coding

About NIPBL

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:36,876,769-37,066,413 (from NCBI)

This gene has 9 transcripts (splice variants), 230 orthologues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 7.3), bone marrow (RPKM 7.1) and 25 other tissues.

Summary

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]

NIPBL Products(2)

mRNA	Protein	Name
NM_015384.5	NP_056199.2	nipped-B-like protein isoform B
NM_133433.4	NP_597677.2	nipped-B-like protein isoform A

NIPBL Protein Structure

Cohesin_HEAT

Nipped-B_C

0
500
1000
1500
2000
2500
2804 a.a.

Protein Preferred Names

Protein Names

nipped-B-like protein

Nipped-B homolog

Related Diseases

Diseases

Alias

Cornelia De Lange Syndrome 1

De Lange Syndrome	CDLS1
Cdl	Cdls
Typus Degenerativus Amstelodamensis	Brachmann-De Lange Syndrome
Bdls	Amstelodamensis Typus Degenerativus
Cornelia De Lange Syndrome, Type 1

Cornelia De Lange Syndrome

De Lange Syndrome	Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome	Cdls
Bdls	Typus Degenerativus Amstelodamensis

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Chromosome 5p13 Duplication Syndrome

5p13 Microduplication Syndrome	Trisomy 5p13
Dup(5)(P13)

Plagiocephaly

Asymmetric Head	Lateral Curvatures Of Skull Unequal
Unicoronal Synostosis

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Brachydactyly

Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies

GDACCF

Developmental Disabilities

Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly

Cornelia De Lange Syndrome 2

CDLS2	Cornelia De Lange Syndrome, X-Linked
Cdls, X-Linked	Cornelia De Lange Syndrome X-Linked
Cornelia De Lange Syndrome, Type 2	Congenital Muscular Hypertrophy-Cerebral Syndrome

Roberts-Sc Phocomelia Syndrome

Roberts Syndrome	Sc Phocomelia Syndrome
RBS	Long Bone Deficiencies Associated With Cleft Lip-Palate
Sc Pseudothalidomide Syndrome	Appelt-Gerken-Lenz Syndrome
Pseudothalidomide Syndrome	Tetraphocomelia-Cleft Palate Syndrome
Hypomelia Hypotrichosis Facial Hemangioma Syndrome	Roberts Syndrome/Sc Phocomelia
Roberts Tetraphocomelia Syndrome	Sc Syndrome
Sc Phocomelia	Sc Disease
Sc	Hemoglobin Sc Disease

Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects

Cornelia De Lange Syndrome 3	CDLS3
Cornelia De Lange Syndrome, Type 3

Spinocerebellar Ataxia 44

SCA44

Partial Trisomy Distal 4q

Distal Trisomy 4q	Chromosome 4, Partial Trisomy 4q
Distal 4q Trisomy	Dup Syndrome, Partial
Duplication 4q Syndrome, Partial	Partial Trisomy 4q Syndrome
Distal Duplication 4q	Telomeric Duplication 4q
Trisomy 4qter

Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects

Cornelia De Lange Syndrome 4	CDLS4
Cornelia De Lange Syndrome, Type 4

Chronic Atrial And Intestinal Dysrhythmia

CAID	Caid Syndrome
Cohesinopathy Affecting Heart And Gut Rhythm	Chronic Atrial Intestinal Dysrhythmia Syndrome
Chronic Atrial And Intestinal Dysrhythmia Syndrome	Chronic Atrial Dysrhythmia-Intestinal Motility Disorder
Dysrhythmia, Atrial And Intestinal, Chronic

Severe Congenital Neutropenia 2

Scn2

Eyelid Disease

Eyelid Diseases

Eyelid Disorders

Kbg Syndrome

KBGS	Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies	Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome	Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Warsaw Breakage Syndrome

WABS

WBRS

Non-Syndromic X-Linked Intellectual Disability 107

Mrx107

X-Linked Mental Retardation 107

Diaphragm Disease

Abnormality Of The Diaphragm	Disease Of Diaphragm
Diaphragmatic Disorder	Disorder Of Diaphragm

Linear Skin Defects With Multiple Congenital Anomalies 1

Midas Syndrome	Mcops7
Mls Syndrome	Microphthalmia, Syndromic 7
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia With Linear Skin Defects
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome	Syndromic Microphthalmia Type 7
LSDMCA1	Mls
Microphthalmia, Dermal Aplasia, And Sclerocornea	Microphthalmia With Linear Skin Defect Syndrome
Syndromic Microphthalmia 7	Linear Skin Defects With Multiple Congenital Anomalies
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome	Microphthalmia Dermal Aplasia And Sclerocornea Syndrome
Micropthalmia Syndromic 7	Microphthalmia Syndromic 7
Microphthalmia With Linear Skin Lesions Syndrome	Syndromic Microphthalmia-7
Microphthalmia, Dermal Aplasia And Sclerocornea	Microphthalmia, Syndromic, 7
Midas

Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome	Broad Thumb-Hallux Syndrome
Chromosome 16p13.3 Deletion Syndrome	Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
Rubinstein Syndrome	Broad Thumbs-Halluces Syndrome
Rsts	Rubinstein-Taybi Deletion Syndrome
Rsts Deletion Syndrome	Proximal Chromosome 16p13.3 Deletion Syndrome
16p13.3 Deletion Syndrome	Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability
Rts

Glass Syndrome

Chromosome 2q32-Q33 Deletion Syndrome	Satb2-Associated Syndrome
2q33.1 Microdeletion Syndrome	Sas
2q32-Q33 Microdeletion Syndrome	2q32q33 Microdeletion Syndrome
Monosomy 2q32	Monosomy 2q32-Q33
Monosomy 2q32q33	2q32 Deletion Syndrome
Del(2)(Q32)	Del(2)(Q32q33)
GLASS	2q32q33 Microdeletion Syndromes
Satb2 Syndrome	Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Del(2)(Q33.1)	Monosomy 2q33.1
Satb2-Associated Syndrome Due To A Pathogenic Variant	Satb2-Associated Syndrome Due To A Point Mutation
Satb2 Associated Disorder

Autosomal Dominant Intellectual Developmental Disorder 31

Autosomal Dominant Non-Syndromic Intellectual Disability 31	Autosomal Dominant Mental Retardation 31
Mrd31

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

Bjornstad Syndrome

BJS	Pili Torti And Nerve Deafness
Ptd	Pili Torti-Deafness Syndrome
Deafness-Pili Torti-Hypogonadism Syndrome	Deafness And Pili Torti, Bjornstad Type
Pili Torti-Sensorineural Hearing Loss	Björnstad Syndrome
Ptnd	Hearing Loss-Pili Torti-Hypogonadism Syndrome
Bjoernstad Syndrome

Trichorhinophalangeal Syndrome, Type Ii

Langer-Giedion Syndrome	Lgs
Trichorhinophalangeal Syndrome Type Ii	Trichorhinophalangeal Syndrome Type 2
TRPS2	Monosomy 8q24.1
Chromosome 8q24.1 Deletion Syndrome	Deletion 8q24.1
Giedion-Langer Syndrome	Trichorhinophalangeal Dysplasia Type Ii
Langer Giedion Syndrome	Trps 2
Tricho-Rhino-Phalangeal Syndrome Type Ii	Trichorhinophalangeal Syndrome With Exostosis
Trps Ii	Tricho-Rhino-Phalangeal Syndrome 2
8q24.1 Microdeletion Syndrome	8q24.1 Deletion Syndrome

Diaphragmatic Eventration

Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation	Autosomal Dominant Non-Syndromic Mental Retardation
Autosomal Dominant Non-Syndromic Intellectual Disability	Mental Retardation, Autosomal Dominant

Hypertrichosis

Atrial Heart Septal Defect

Atrial Septal Defect	Atrial Septal Defects
Atrioseptal Defect	Auricular Septal Defect
Congenital Atrial Septal Defect	Interatrial Septal Defect
Interauricular Septal Defect	Heart Septal Defects, Atrial
Septal Defect, Atrial

Orofacial Cleft

Cleft, Orofacial

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Alpha-Thalassemia

Alpha Thalassemia	Alpha Thalassaemia
Alpha Plus Thalassemia	Thalassemia, Alpha-
Thalassemias, Alpha-	A-Thalassemia
Α-Thalassemia	A-THAL
Thalassemia	Alpha Thalassaemia Syndrome

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09305	NIPBL Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NIPBL	MGD	MGI:1913976
Rattus norvegicus	NIPBL	RGD	RGD:1306393
Canis familiaris	NIPBL	VGNC	VGNC:43819
Macaca mulatta	NIPBL	VGNC	VGNC:75271
Felis catus	NIPBL	VGNC	VGNC:63810
Bos taurus	NIPBL	VGNC	VGNC:32085