Gene: Esrrg

Basic information

Tag Content
Uniprot ID P62509; O75454; O96021; Q8CHC9; Q9R1F3;
Entrez ID 26381
Genbank protein ID BAC41450.1; AAH82324.1; AAD48369.1; BAC35120.1;
Genbank nucleotide ID XM_006497165.3; NM_001243792.1; XM_006497164.3; NM_011935.3; XM_006497170.1; XM_006497167.3;
Ensembl protein ID ENSMUSP00000106563; ENSMUSP00000027906; ENSMUSP00000106564;
Ensembl nucleotide ID ENSMUSG00000026610
Gene name Estrogen-related receptor gamma
Gene symbol Esrrg
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Orphan receptor that acts as transcription activator in the absence of bound ligand. Binds specifically to an estrogen response element and activates reporter genes controlled by estrogen response elements. Induces the expression of PERM1 in the skeletal muscle.
Sequence
MDSVELCLPE SFSLHYEEEL LCRMSNKDRH IDSSCSSFIK TEPSSPASLT DSVNHHSPGG 60
SSDASGSYSS TMNGHQNGLD SPPLYPSAPI LGGSGPVRKL YDDCSSTIVE DPQTKCEYML 120
NSMPKRLCLV CGDIASGYHY GVASCEACKA FFKRTIQGNI EYSCPATNEC EITKRRRKSC 180
QACRFMKCLK VGMLKEGVRL DRVRGGRQKY KRRIDAENSP YLNPQLVQPA KKPYNKIVSH 240
LLVAEPEKIY AMPDPTVPDS DIKALTTLCD LADRELVVII GWAKHIPGFS TLSLADQMSL 300
LQSAWMEILI LGVVYRSLSF EDELVYADDY IMDEDQSKLA GLLDLNNAIL QLVKKYKSMK 360
LEKEEFVTLK AIALANSDSM HIEDVEAVQK LQDVLHEALQ DYEAGQHMED PRRAGKMLMT 420
LPLLRQTSTK AVQHFYNIKL EGKVPMHKLF LEMLEAKV 458

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologESRRG478961J9NWD9Canis lupus familiarisPredictionMore>>
1:1 orthologESRRGA0A452FEX0Capra hircusPredictionMore>>
1:1 orthologESRRG2104P62508Homo sapiensPublicationMore>>
1:1 orthologEsrrg26381P62509Mus musculusPredictionMore>>
1:1 orthologESRRG457738A0A2I3T916Pan troglodytesPredictionMore>>
1:1 orthologESRRG100355568G1SEH2Oryctolagus cuniculusPredictionMore>>
1:1 orthologEsrrg360896P62510Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
ESRRGrs11117745GWAS29535761
ESRRGrs1339221;GWAS29535761

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIDA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIDA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIMP
GO:0003677 DNA bindingNAS
GO:0003707 steroid hormone receptor activityIEA
GO:0004879 nuclear receptor activityNAS
GO:0005496 steroid bindingIEA
GO:0005515 protein bindingIPI
GO:0005516 calmodulin bindingNAS
GO:0008270 zinc ion bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0006355 regulation of transcription, DNA-templatedISS
GO:0006355 regulation of transcription, DNA-templatedISO
GO:0006355 regulation of transcription, DNA-templatedNAS
GO:0007275 multicellular organism developmentNAS
GO:0043401 steroid hormone mediated signaling pathwayIEA
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0048384 retinoic acid receptor signaling pathwayIEA
GO:0120162 positive regulation of cold-induced thermogenesisIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusNAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-212436 Generic Transcription PathwayIEA
R-MMU-383280 Nuclear Receptor transcription pathwayIEA
R-MMU-73857 RNA Polymerase II TranscriptionIEA
R-MMU-74160 Gene expression (Transcription)IEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0007 Acetylation
KW-0010 Activator
KW-0025 Alternative splicing
KW-0238 DNA-binding
KW-1017 Isopeptide bond
KW-0479 Metal-binding
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-0675 Receptor
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0832 Ubl conjugation
KW-0862 Zinc
KW-0863 Zinc-finger

Interpro

InterPro ID InterPro Term
IPR035500 NHR-like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR027289 Oest-rel_rcp
IPR024178 Oest_rcpt/oest-rel_rcp
IPR003078 Retinoic_acid_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA

PROSITE

PROSITE ID PROSITE Term
PS51843 NR_LBD
PS00031 NUCLEAR_REC_DBD_1
PS51030 NUCLEAR_REC_DBD_2

Pfam

Pfam ID Pfam Term
PF00104 Hormone_recep
PF00105 zf-C4

Protein-protein interaction

Protein-miRNA interaction