ESRRB - estrogen related receptor beta Gene

Also Known as ERR2; ERRb; ESRL2; NR3B2; DFNB35; ERRbeta2; ERR beta-2

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 2103

About ESRRB

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:76,310,777-76,501,837 (from NCBI)

This gene has 8 transcripts (splice variants), 264 orthologues, 8 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 4.2), heart (RPKM 1.8) and 2 other tissues.

Summary

This gene encodes a protein with similarity to the Estrogen Receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]

ESRRB Products (10)

mRNA	Protein	Name
XM_011536547.3	XP_011534849.1	steroid hormone receptor ERR2 isoform X1
XM_024449508.2	XP_024305276.1	steroid hormone receptor ERR2 isoform X5
NM_001411038.1	NP_001397967.1	steroid hormone receptor ERR2 isoform 3
NM_004452.4	NP_004443.3	steroid hormone receptor ERR2 isoform 1
XM_047431080.1	XP_047287036.1	steroid hormone receptor ERR2 isoform X6
XM_011536550.3	XP_011534852.1	steroid hormone receptor ERR2 isoform X2
XM_011536553.3	XP_011534855.1	steroid hormone receptor ERR2 isoform X3
XM_047431079.1	XP_047287035.1	steroid hormone receptor ERR2 isoform X2
XM_011536554.3	XP_011534856.1	steroid hormone receptor ERR2 isoform X4
NM_001379180.1	NP_001366109.1	steroid hormone receptor ERR2 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	17920186	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17920186	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	12654265	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cell population proliferation	IDA IDA: Inferred from direct assay	19755138	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	23836911	GOA
involved in stem cell population maintenance	IDA IDA: Inferred from direct assay	25522312	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

ESRRB Protein Structure

zf-C4

Hormone_recep

0
100
200
300
400
508 a.a.

Protein Preferred Names	Protein Names
steroid hormone receptor ERR2	estrogen receptor-like 2 estrogen-related nuclear receptor beta nuclear receptor ERRB2 nuclear receptor subfamily 3 group B member 2 orphan nuclear receptor

関連疾患

Diseases	Alias
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma Primitive Neuroectodermal Tumor ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Ewing Family Of Tumors Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
Rare Genetic Deafness	Rare Genetic Hearing Loss
Amelogenesis Imperfecta, Type Ig	Enamel-Renal Syndrome Ers Amelogenesis Imperfecta Type 1g AI1G Enamel-Renal-Gingival Syndrome Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome Aigfs Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis Amelogenesis Imperfecta Type Ig Amelogenesis Imperfecta-Nephrocalcinosis Syndrome Amelogenesis Imperfecta 1g Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis Amelogenesis Imperfecta Nephrocalcinosis
Teeth Hard Tissue Disease
Deafness, Autosomal Recessive 35	DFNB35 Autosomal Recessive Nonsyndromic Deafness 35 Autosomal Recessive Deafness 35 Deafness, Autosomal Recessive, 35 Deafness, Autosomal Recessive, Type 35
Germ Cell And Embryonal Cancer	Germ Cell And Embryonal Neoplasm
Hypoadrenocorticism, Familial	Addison Disease Addison'S Disease Primary Adrenocortical Insufficiency Adrenal Gland Hypofunction Adrenal Hypoplasia Adrenal Aplasia Addison Disease, Chronic Adrenal Insufficiency Primary Hypoadrenalism Hypoadrenocorticism Familial Autoimmune Addison Disease Autoimmune Adrenalitis Classic Addison Disease Primary Addison Disease Addisons Disease Addison Disease, Susceptibility To Autoimmune Primary Adrenal Insufficiency Addison'S Disease Due To Autoimmunity
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Adrenal Hypoplasia, Congenital	X-Linked Adrenal Hypoplasia Congenita Congenital Adrenal Hypoplasia AHC Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism Adrenal Hypoplasia Congenita X-Linked Ahc Ahch Ahx Ahc With Hhg Cytomegalic Adrenocortical Hypoplasia Ahc With Isolated Gonadotropin Deficiency X-Linked Congenital Adrenal Hypoplasia Congenital Adrenal Hypoplasia, X-Linked Addison Disease, X-Linked Primary Adrenal Hypoplasia Adrenal Hypoplasia Congenital, X-Linked X-Linked Addison Disease X-Linked Adrenal Hypoplasia Congenital Congenital Hypoplasia Of Adrenal Gland Congenital Adrenal Gland Hypoplasia Congenital Small Adrenal Gland Adrenal Hypoplasia Cah - [Congenital Adrenal Hypoplasia]
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females
Deafness, Autosomal Recessive

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)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS04540	ESRRB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04541	Esrrb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04542	ESRRB Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Felis catus	ESRRB	VGNC	VGNC:61968
Rattus norvegicus	ESRRB	RGD	RGD:1359557
Macaca mulatta	ESRRB	VGNC	VGNC:72434
Bos taurus	ESRRB	VGNC	VGNC:28609
Mus musculus	ESRRB	MGD	MGI:1346832
Canis familiaris	ESRRB	VGNC	VGNC:40480
Others	ESRRB	NCBI