ARID1B - AT-rich interaction domain 1B Gene

Homo sapiens

Also known as CSS1; OSA2; 6A3-5; DAN15; MRD12; P250R; BRIGHT; BAF250B; SMARCF2; ELD/OSA1

Gene ID: 57492 | Gene type: protein coding

About ARID1B

Cytogenetic location: 6q25.3 Genomic coordinates (GRCh38): 6:156,776,026-157,210,779 (from NCBI)

This gene has 37 transcripts (splice variants), 257 orthologues, 1 paralogue and is associated with 141 phenotypes. Ubiquitous expression in thyroid (RPKM 7.6), skin (RPKM 7.3) and 25 other tissues.

Summary

This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

ARID1B Products(5)

mRNA	Protein	Name
NM_001363725.2	NP_001350654.1	AT-rich interactive domain-containing protein 1B isoform 4
NM_001371656.1	NP_001358585.1	AT-rich interactive domain-containing protein 1B isoform 2
NM_001374820.1	NP_001361749.1	AT-rich interactive domain-containing protein 1B isoform 2
NM_001374828.1	NP_001361757.1	AT-rich interactive domain-containing protein 1B isoform 3
NM_017519.3	NP_059989.3	AT-rich interactive domain-containing protein 1B isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12200431	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of SWI/SNF complex	IDA IDA: Inferred from direct assay	11734557	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARID1B Protein Structure

ARID

BAF250_C

0
400
800
1200
1600
2000
2249 a.a.

Protein Preferred Names

Protein Names

AT-rich interactive domain-containing protein 1B

ARID domain-containing protein 1B

Related Diseases

Diseases

Alias

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Hypertrichosis

Corpus Callosum, Agenesis Of

Corpus Callosum Agenesis	Agenesis Of The Corpus Callosum
Isolated Corpus Callosum Agenesis	Acc
Non Rare In Europe: Isolated Corpus Callosum Agenesis	Congenital Malformation Of Corpus Callosum
Deformity Of Corpus Callosum	Absence Of Corpus Callosum
Absent Corpus Callosum	Acc - [Agenesis Of Corpus Callosum]
Aplasia Of Corpus Callosum	Congenital Absence Of Corpus Callosum
Hypoplastic Corpus Callosum	Hypoplasia Of Corpus Callosum

Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag

Da Silva Syndrome

Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome

Blepharophimosis

Capillary Hemangioma

Infantile Hemangioma	Strawberry Nevus Of Skin
Cellular Hemangioma Of Infancy	Congenital Vascular Hamartoma
Congenital Vascular Naevus	Juvenile Hemangioma
Strawberry Haemangioma	Strawberry Nevus
Hemangioma Capillary	Hemangioma, Capillary
Hemangioma, Cavernous

Torticollis

Contracture Of Neck	Wry Neck
Wry Neck/Torticollis

Nail Disorder, Nonsyndromic Congenital, 9

Nail Dysplasia	NDNC9
Anonychia-Onycholysis, Isolated	Onychodystrophy
Nonsyndromic Congenital Nail Disorder 9	Dystrophia Unguium

Nicolaides-Baraitser Syndrome

NCBRS	Nbs
Sparse Hair And Mental Retardation	Sparse Hair And Intellectual Disability
Intellectual Disability-Sparse Hair-Brachydactyly Syndrome	Nicolaides Baraitser Syndrome

Trichomegaly

Long Eyelashes	TCMGLY
Goldstein Hutt Syndrome	Eyelashes, Long
Movie Lashes

Hypermobile Ehlers-Danlos Syndrome

Heds	Ehlers-Danlos Syndrome Type 3
Ehlers-Danlos Syndrome Hypermobility Type	Hypermobile Eds
Joint Hypermobility	Benign Joint Hypermobility Syndrome
Eds Hypermobility Type	Eds Type Iii
Ehlers-Danlos Syndrome Type Iii	Joint Hypermobility Syndrome
Eds3	Ehlers-Danlos Syndrome, Hypermobility Type
Eds Iii	Eds-Ht

Microcephaly

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

Chromosome 6q24-Q25 Deletion Syndrome

Chromosome 6q25-Q25 Deletion Syndrome	6q25 Microdeletion Syndrome
Monosomy 6q25	Del(6)(Q25)

Speech Disorder

Speech Disorders

Wiedemann-Steiner Syndrome

WDSTS	Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome	Wiedemann Grosse Dibbern Syndrome
Kmt2a-Related Neurodevelopmental Disorder	Hairy Elbows Short Stature Facial Dysmorphism And Developmental Delay
Hypertrichosis Cubiti Facial Dysmorphism And Developmental Delay	Wss
Growth Deficiency And Mental Retardation With Facial Dysmorphism

Rare Genetic Intellectual Disability

Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

CHEGDD

Arid1b-Related Disorder

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

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

Clark-Baraitser Syndrome

CLABARS	Baraitser Syndrome
Autosomal Dominant Intellectual Disability 49	Mental Retardation, Autosomal Dominant 49, Formerly
Mrd49, Formerly	Intellectual Developmental Disorder, Autosomal Dominant 49
Autosomal Dominant Mental Retardation 49	Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features
Mrd49	Progeria Short Stature Pigmented Nevi

Ovarian Clear Cell Carcinoma

Clear-Cell Ovarian Carcinoma

Noonan Syndrome-Like Disorder With Loose Anagen Hair 2

NSLH2

Papillary Adenofibroma

Neurilemmomatosis

Schwannomatosis	Neurofibromatosis Type 3
Nf3	Neurilemmomatosis Congenital Cutaneous
Neurinomatosis	Congenital Cutaneous Neurilemmomatosis
Multiple Neurilemmomas	Multiple Schwannomas
Neurilemmomatosis, Congenital Cutaneous	Schwannomatosis 1
Neurofibromatosis 3	Mixed Central And Peripheral Neurofibromatosis
Nf3 - [Neurofibromatosis Type 3]

Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly

Ovarian Carcinosarcoma

Ovarian Malignant Mixed Mullerian Tumor	Mmmt Of The Ovary
Malignant Mixed Mullerian Tumor Of The Ovary	Ovarian Malignant Mixed Epithelial Mesenchymal Tumor
Ovarian Malignant Mesodermal Mixed Tumor	Ovarian Mmmt
Malignant Mixed Müllerian Tumor Of The Ovary	Ovarian Malignant Mixed Müllerian Tumor
Carcinosarcoma Of Ovary

Developmental And Epileptic Encephalopathy 60

DEE60	Epileptic Encephalopathy, Early Infantile, 60
Eiee60	Developmental And Epileptic Encephalopathy, 60
Early Infantile Epileptic Encephalopathy 60

Bladder Urothelial Carcinoma

Bladder Transitional Cell Carcinoma	Transitional Cell Carcinoma Of Bladder
Transitional Cell Carcinoma Of The Bladder	Urinary Bladder Urothelial Carcinoma
Urothelial Bladder Carcinoma	Carcinoma Transitional Cell Bladder
Tcc - [Transitional Cell Carcinoma] Of Bladder

Laryngomalacia

Congenital Laryngomalacia	Congenital Laryngeal Stridor
Laryngomalacia Congenital	Floppy Epiglottis

Cardiofaciocutaneous Syndrome 1

Cardiofaciocutaneous Syndrome	Cfc Syndrome
Cardio-Facio-Cutaneous Syndrome	CFC1
Cfcs	Cardio-Facial-Cutaneous Syndrome
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure	Cardiofaciocutaneous Syndrome, Type 1

Helsmoortel-Van Der Aa Syndrome

HVDAS	Mrd28
Adnp Syndrome	Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder
Mental Retardation, Autosomal Dominant 28	Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder
Mental Retardation, Autosomal Dominant 28, Formerly	Mrd28, Formerly
Autosomal Dominant Mental Retardation 28	Adnp-Related Intellectual Disability And Autism Spectrum Disorder
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder

Rhabdoid Cancer

Rhabdoid Tumor	Malignant Rhabdoid Tumor
Malignant Rhabdoid Tumour	Rhabdoid Sarcoma
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid Tumor Predisposition Syndrome 2
Atypical Teratoid Rhabdoid Tumor	Brain Tumor, Posterior Fossa, Of Infancy, Familial
Atypical Teratoid/Rhabdoid Tumor

Endometrioid Ovary Carcinoma

Endometrioid Carcinoma Of Ovary	Endometrioid Carcinoma Ovary
Ovarian Endometrioid Carcinoma	Malignant Ovarian Endometrioid Tumor
Ovarian Endometrioid Tumor

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

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

Developmental And Epileptic Encephalopathy 11

Epileptic Encephalopathy, Early Infantile, 11	DEE11
Eiee11	Developmental And Epileptic Encephalopathy, 11
Early Infantile Epileptic Encephalopathy 11	Encephalopathy, Developmental And Epileptic, Type 11

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

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

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

Familial Thyroid Dyshormonogenesis

Thyroid Dyshormonogenesis

Familial Dyshormonogenetic Goiter

Cornelia De Lange Syndrome

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

Syndromic Intellectual Disability

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00967	ARID1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ARID1B	RGD	RGD:708504
Macaca mulatta	ARID1B	VGNC	VGNC:69859
Mus musculus	ARID1B	MGD	MGI:1926129
Bos taurus	ARID1B	VGNC	VGNC:26124
Felis catus	ARID1B	VGNC	VGNC:59912
Canis familiaris	ARID1B	VGNC	VGNC:53524
Others	ARID1B	NCBI