1. Gene
  2. ARID2 - AT-rich interaction domain 2 Gene

ARID2 - AT-rich interaction domain 2 Gene

中文名称:AT-rich 交互域 2

种属: Homo sapiens

同用名: CSS6; p200; BAF200; SMARCF3

基因 ID: 196528 | 基因类型: protein coding

关于 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.


该基因编码富含 AT 相互作用结构域 (ARID) 的 DNA 结合蛋白家族成员。 ARID 家族的成员在胚胎模式、细胞谱系基因调控、细胞周期控制、转录调控和染色质结构修饰中发挥作用。这种蛋白质作为多溴和 BRG1 相关因子或 PBAF (SWI/SNF-B) 染色质重塑复合物的亚基发挥作用,可促进核受体的配体依赖性转录激活。该基因的突变与肝细胞癌有关。在 1 号染色体上发现了该基因的假基因。[RefSeq 提供,2016 年 12 月]

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 基因产物(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

ARID2 蛋白结构


ARID: ARID/BRIGHT DNA binding domain (14 - 101)


RFX_DNA_binding: RFX DNA-binding domain (520 - 602)

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  • 1835 a.a.
蛋白主名 其他名称

AT-rich interactive domain-containing protein 2

ARID domain-containing protein 2


疾病名称 别名
Coffin-Siris Syndrome 6


Coffin-Siris Syndrome, Type 6

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome




Mental Retardation, Autosomal Dominant 12



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


Carcinoma Adenoid Cystic

Carcinoma, Adenoid Cystic

Adenoid Cystic Carcinoma Of Salivary Gland

Eccrine Dermal Cylindroma

Carcinoma, Cribriform

Coffin-Siris Syndrome 4



Mental Retardation, Autosomal Dominant 16

Autosomal Dominant Mental Retardation 16

Coffin-Siris Syndrome, Type 4

Hypothyroidism, Congenital, Nongoitrous, 6


Congenital Nongoitrous Hypothyroidism 6

Hypothyroidism, Congenital, Non-Goitrous, 6

Hypothyroidism, Congenital, Nongoitrous, Type 6

Clark-Baraitser Syndrome


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


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


Malignant Melanoma

Cutaneous Melanoma


Malignant Melanomas



Neurofibromatosis Type 3


Neurilemmomatosis Congenital Cutaneous


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 Type 1

Hereditary Hemochromatosis



Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis


Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis



Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis


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


Melanoma, Cutaneous Malignant


Familial Atypical Mole-Malignant Melanoma Syndrome


Melanoma, Familial


Dysplastic Nevus Syndrome, Hereditary


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

疾病名称 别名
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


种属 基因名 来源 基因 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