ARID1B - AT-rich interaction domain 1B Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57492

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12200431	GOA

Cellular Component GO Annotation	Evidence	References	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

ARID1B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ARID1B	Q8NFD5	DPYSL2	Homo sapiens	Q16555	Anti Bait CoIP	36950384
Intra	ARID1B	Q8NFD5	SMARCA4	Homo sapiens	P51532	Anti Bait CoIP	36950384
Intra	ARID1B	Q8NFD5	SMARCA4	Homo sapiens	P51532	Anti Tag CoIP	12200431
Intra	ARID1B	Q8NFD5	SMARCA4	Homo sapiens	P51532	Pull Down	12200431
Intra	ARID1B	Q8NFD5	SMARCC2	Homo sapiens	Q8TAQ2	Anti Bait CoIP	36950384
Intra	ARID1B	Q8NFD5	SMARCA2	Homo sapiens	P51531	Anti Bait CoIP	12200431
Intra	ARID1B	Q8NFD5	SMARCA2	Homo sapiens	P51531	Anti Bait CoIP	36950384
Intra	ARID1B	Q8NFD5	SMARCA2	Homo sapiens	P51531	Anti Tag CoIP	12200431

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00967	ARID1B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19050	Arid1b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25540	Arid1b Rat Pre-designed siRNA Set A	Pre-designed Set	/	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