ARID2 - AT-rich interaction domain 2 Gene

Also Known as CSS6; p200; BAF200; SMARCF3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 196528

About ARID2

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:45,729,706-45,908,037 (from NCBI)

This gene has 10 transcripts (splice variants), 220 orthologues and is associated with 154 phenotypes. Broad expression in testis (RPKM 13.8), thyroid (RPKM 5.2) and 25 other tissues.

Summary

This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016]

ARID2 Products (2)

mRNA	Protein	Name
NM_001347839.2	NP_001334768.1	AT-rich interactive domain-containing protein 2 isoform 2
NM_152641.4	NP_689854.2	AT-rich interactive domain-containing protein 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15985610	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in negative regulation of cell migration	IDA IDA: Inferred from direct assay	26169693	GOA
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	26169693	GOA
involved in nucleosome disassembly	IDA IDA: Inferred from direct assay	8895581	GOA
involved in positive regulation of double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	28381560	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of SWI/SNF complex	IDA IDA: Inferred from direct assay	8895581	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

ARID2 Protein Structure

ARID

RFX_DNA_binding

0
300
600
900
1200
1500
1835 a.a.

Protein Preferred Names	Protein Names
AT-rich interactive domain-containing protein 2	ARID domain-containing protein 2

ARID2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ARID2	Q68CP9	SMARCA4	Homo sapiens	P51532	GMS	15985610
Intra	ARID2	Q68CP9	SMARCA4	Homo sapiens	P51532	Anti Tag CoIP	15985610
Intra	ARID2	Q68CP9	SMARCA4	Homo sapiens	P51532	Anti Bait CoIP	15985610
Intra	ARID2	Q68CP9	SMARCB1	Homo sapiens	Q12824	GMS	15985610
Intra	ARID2	Q68CP9	SMARCB1	Homo sapiens	Q12824	Anti Tag CoIP	15985610
Intra	ARID2	Q68CP9	SMARCE1	Homo sapiens	Q969G3	Anti Tag CoIP	15985610
Intra	ARID2	Q68CP9	SMARCE1	Homo sapiens	Q969G3	GMS	15985610
Intra	ARID2	Q68CP9	PBRM1	Homo sapiens	Q86U86	Anti Bait CoIP	15985610
Intra	ARID2	Q68CP9	PBRM1	Homo sapiens	Q86U86	GMS	15985610
Intra	ARID2	Q68CP9	PBRM1	Homo sapiens	Q86U86	Anti Tag CoIP	15985610

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Coffin-Siris Syndrome 6	CSS6 Coffin-Siris Syndrome, Type 6
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
Adenoid Cystic Carcinoma	Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Carcinoma Adenoid Cystic Carcinoma, Adenoid Cystic Adenoid Cystic Carcinoma Of Salivary Gland Eccrine Dermal Cylindroma Carcinoma, Cribriform
Coffin-Siris Syndrome 4	CSS4 Mrd16 Mental Retardation, Autosomal Dominant 16 Autosomal Dominant Mental Retardation 16 Coffin-Siris Syndrome, Type 4
Hypertrichosis
Hypothyroidism, Congenital, Nongoitrous, 6	CHNG6 Congenital Nongoitrous Hypothyroidism 6 Hypothyroidism, Congenital, Non-Goitrous, 6 Hypothyroidism, Congenital, Nongoitrous, Type 6
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
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
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
Ovarian Clear Cell Carcinoma	Clear-Cell Ovarian Carcinoma
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
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
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]
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 Melanoma, Malignant CMM1 Melanoma, Cutaneous Malignant Cmm Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00968	ARID2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21484	Arid2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28002	Arid2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ARID2	VGNC	VGNC:26125
Rattus norvegicus	ARID2	RGD	RGD:1311105
Canis familiaris	ARID2	VGNC	VGNC:38094
Macaca mulatta	ARID2	VGNC	VGNC:69858
Felis catus	ARID2	VGNC	VGNC:59913
Mus musculus	ARID2	MGD	MGI:1924294
Others	ARID2	NCBI