1. Gene
  2. ARID1A - AT-rich interaction domain 1A Gene

ARID1A - AT-rich interaction domain 1A Gene

Homo sapiens

Also known as ELD; B120; CSS2; OSA1; P270; hELD; BM029; MRD14; hOSA1; BAF250; C1orf4; BAF250a; SMARCF1

Gene ID: 8289 | Gene type: protein coding

About ARID1A

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:26,696,015-26,782,104 (from NCBI)

This gene has 16 transcripts (splice variants), 287 orthologues, 1 paralogue and is associated with 186 phenotypes. Ubiquitous expression in spleen (RPKM 14.3), lymph node (RPKM 13.2) and 25 other tissues.

Summary

This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ARID1A Products(2)

mRNA Protein Name
NM_006015.6 NP_006006.3 AT-rich interactive domain-containing protein 1A isoform a
NM_139135.4 NP_624361.1 AT-rich interactive domain-containing protein 1A isoform b

ARID1A Protein Structure

ARID

ARID: ARID/BRIGHT DNA binding domain (1017 - 1104)

BAF250_C

BAF250_C: SWI/SNF-like complex subunit BAF250/Osa (1975 - 2231)

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  • 2285 a.a.
Protein Preferred Names Protein Names

AT-rich interactive domain-containing protein 1A

ARID domain-containing protein 1A

Related Diseases

Diseases Alias
Coffin-Siris Syndrome 2

CSS2

Mrd14

Mental Retardation, Autosomal Dominant 14

Autosomal Dominant Mental Retardation 14

Coffin-Siris Syndrome, Type 2

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

Hydrops Fetalis, Nonimmune

Hydrops Fetalis

Non-Immune Hydrops Fetalis

NIHF

Familial Non-Immune Hydrops Fetalis

Hydrops Fetalis Nonimmune

Idiopathic Hydrops Fetalis

Hb Bart'S Hydrops Fetalis

Alpha-Thalassemia Hydrops Fetalis

Alpha-Thalassemia Major

Hemoglobin Bart'S Hydrops Fetalis

Homozygous Alpha0-Thalassemia

Fetal Anasarca

Fetal Hydrops

Generalized Fetal Edema

Hf

Non-Immune Hf

Non-Immune Fetal Edema

Non-Immune Fetal Hydrops

Hydrops Fetalis, Non-Immune

Hemoglobin Bart'S Hydrops Syndrome

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Periventricular Leukomalacia

Leukomalacia, Periventricular

Pvl

Leukomalacia Periventricular

Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

CHEGDD

Endometrioid Ovary Carcinoma

Endometrioid Carcinoma Of Ovary

Endometrioid Carcinoma Ovary

Ovarian Endometrioid Carcinoma

Malignant Ovarian Endometrioid Tumor

Ovarian Endometrioid Tumor

Uterine Corpus Endometrial Carcinoma
Endocervical Adenocarcinoma

Endocervical Carcinoma

Clear Cell Adenofibroma

Cystadenofibroma

Ovarian Clear Cell Carcinoma

Clear-Cell Ovarian Carcinoma

Female Reproductive Endometrioid Cancer

Endometrioid Tumor

Endometrioid Neoplasm

Female Reproductive Endometrioid Neoplasm

Endometrial Hyperplasia
Ovarian Small Cell Carcinoma

Small Cell Carcinoma Of The Ovary

Scco

Small Cell Ovarian Carcinoma

Endometriosis Of Ovary

Ovarian Endometriosis

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1

Eec Syndrome

Rudiger Syndrome 1

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1

EEC1

Eec Syndrome 1

Eec Syndrome-1

Walker-Clodius Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome

Eec

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly-Cleft Lip/Palate Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

Ectrodactyly-Cleft Lip-Palate Syndrome

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome

Ovarian Clear Cell Adenocarcinoma
Mixed Cell Type Cancer

Malignant Mixed Neoplasm

Malignant Mixed Tumor

Mixed Neoplasm

Mixed Tumor, Malignant

Malignant Mixed Cancer

Mixed Tumor

Malignant Mixed Tumor, Not Otherwise Specified

Mixed Salivary Gland Tumor

Mixed Tumor, Not Otherwise Specified

Hypertrichosis
Bile Duct Cancer

Bile Duct Carcinoma

Extrahepatic Bile Duct Carcinoma

Carcinoma Of Extrahepatic Bile Duct

Extrahepatic Bile Duct Cancer

Bile Duct Neoplasms

Bile Duct Tumor

Ca Extrahepatic Bile Ducts

Malignant Neoplasm Of The Extrahepatic Bile Duct

Bile Duct Extrahepatic Carcinoma

Malignant Tumor Of Extrahepatic Bile Duct

Cervical Squamous Cell Carcinoma

Squamous Cell Carcinoma Of The Cervix Uteri

Squamous Cell Carcinoma Of Cervix

Serous Cystadenocarcinoma

Serous Adenocarcinoma

Cystadenocarcinoma, Serous

Serous Carcinoma

Cystadenocarcinoma Serous

Adenofibroma
Small Intestine Cancer

Small Intestine Carcinoma

Cancer Of The Small Bowel

Small Bowel Cancer

Small Intestinal Carcinoma

Malignant Neoplasms Of The Small Intestine

Small Bowel Tumors

Malignant Tumor Of Small Intestine

Neoplasm Of Small Intestine

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

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

Ovary Adenocarcinoma

Ovarian Adenocarcinoma

Adenocarcinoma Of The Ovary

Ovarian Adenoacanthoma

Adenocarcinoma Of Ovary

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

Uterine Body Mixed Cancer

Malignant Mixed Tumor Of Corpus Uteri

Malignant Mixed Tumor, Not Otherwise Specified

Uterine Corpus Cancer

Corpus Uteri Cancer

Malignant Uterine Corpus Neoplasm

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

Medullary Colon Carcinoma
Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type

Hypercalcemic Type Ovarian Small Cell Carcinoma

Small Cell Carcinoma Of The Ovary, Hypercalcemic Type

Ovarian Small Cell Carcinoma, Hypercalcemic Type

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

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

Endometrial Serous Adenocarcinoma

Uterine Serous Carcinoma

Uterine Corpus Serous Adenocarcinoma

Uterine Papillary Serous Carcinoma

Malignant Ovarian Surface Epithelial-Stromal Neoplasm

Malignant Ovarian Surface Epithelial-Stromal Tumor

Clear Cell Adenocarcinoma

Mesonephroma

Water-Clear Cell Adenocarcinoma

Adenocarcinoma, Clear Cell

Malignant Mesonephroma

Mesonephroid Clear Cell Carcinoma

Mesonephroma, Malignant

Water-Clear Cell Carcinoma

Wolffian Duct Neoplasm

Adenocarcinoma Clear Cell

Mesonephric Tumor

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]

Mismatch Repair Cancer Syndrome

Turcot Syndrome

Brain Tumor-Polyposis Syndrome 1

Btp1 Syndrome

Btps1

Childhood Cancer Syndrome

Cmmr-D Syndrome

Cmmrds

Constitutional Mismatch Repair Deficiency Syndrome

Mmr Deficiency

Cancer Syndrome, Mismatch Repair

Malignant Childhood Neoplasm

Spinal Meningioma

Spinal Cord Meningioma

Meningioma, Spine

Meningioma

Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma
Intrahepatic Cholangiocarcinoma

Cholangiocarcinoma

Intrahepatic Bile Duct Carcinoma

Peripheral Cholangiocarcinoma

Peripheral Intrahepatic Cholangiocarcinoma

Adenocarcinoma Of Intra-Hepatic Bile Ducts

Cholangiocarcinoma, Unspecified Site

Cholangiocarcinoma Of Liver

Bartholin'S Gland Adenoid Cystic Carcinoma

Bartholin Gland Adenoid Cystic Carcinoma

Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma

Uterine Carcinosarcoma

Carcinosarcoma Of The Corpus Uteri

Mixed Mullerian Sarcoma Of Uterus

Malignant Mixed Müllerian Tumor Of The Corpus Uteri

Malignant Mixed Müllerian Tumor Of Corpus Uteri

Mixed Müllerian Cancer Of Corpus Uteri

Malignant Mixed Mullerian Tumor Of The Corpus Uteri

Mixed Mullerian Cancer Of Corpus Uteri

Uterine Corpus Carcinosarcoma

Cystadenocarcinoma
Gallbladder Cancer

Gallbladder Carcinoma

Gallbladder Neoplasm

Malignant Neoplasm Of Gallbladder

Malignant Tumour Of Gallbladder

Gallbladder Ca

Localized Malignant Gallbladder Neoplasm

Malignant Tumor Of The Gallbladder

Tumor Of The Gallbladder

Cancer Of The Gallbladder

Carcinoma Gallbladder

Carcinoma Of Gallbladder

Gallbladder Neoplasms

Malignant Neoplasm Of Gallbladder Localized

Cancer Of Gallbladder

Primary Malignant Neoplasm Of Gallbladder

Uterine Benign Neoplasm
Reproductive Organ Benign Neoplasm
Ovary Epithelial Cancer

Ovarian Surface Epithelial-Stromal Tumor

Epithelial Tumor Of Ovary

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Endocervical Carcinoma

Carcinoma Of Endocervix

Carcinoma Of The Endocervix

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Ovarian Seromucinous Carcinoma

Mixed Epithelial Carcinoma Of Ovary

Ovary Mixed Epithelial Carcinoma

Ovarian Cystadenocarcinoma

Cystadenocarcinoma Of Ovary

Cystadenocarcinoma Of The Ovary

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Breast Juvenile Papillomatosis

Juvenile Papillomatosis Of The Breast

Papillary Adenofibroma
Fallopian Tube Endometrioid Adenocarcinoma

Endometrioid Carcinoma Of The Fallopian Tube

Fallopian Tube Endometrioid Cancer

Fallopian Tube Endometrioid Neoplasm

Fallopian Tube Endometrioid Tumor

Salpingitis Isthmica Nodosa
Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

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

Orthologs Information

Species Symbol Source ID
Mus musculus ARID1A MGD MGI:1935147
Rattus norvegicus ARID1A RGD RGD:1310500
Bos taurus ARID1A VGNC VGNC:26123
Canis familiaris ARID1A VGNC VGNC:38093
Felis catus ARID1A VGNC VGNC:59911
Macaca mulatta ARID1A VGNC VGNC:69822