ID   ERR2_HUMAN              Reviewed;         500 AA.
AC   O95718; Q9HCB4;
DT   21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT   01-MAY-1999, sequence version 1.
DT   16-JUN-2009, entry version 87.
DE   RecName: Full=Steroid hormone receptor ERR2;
DE   AltName: Full=Estrogen-related receptor, beta;
DE            Short=ERR-beta;
DE   AltName: Full=Estrogen receptor-like 2;
DE   AltName: Full=ERR beta-2;
DE   AltName: Full=Nuclear receptor subfamily 3 group B member 2;
GN   Name=ESRRB; Synonyms=ERRB2, ESRL2, NR3B2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Testis;
RX   MEDLINE=99173874; PubMed=10072763; DOI=10.1016/S0378-1119(98)00619-2;
RA   Chen F., Zhang Q., McDonald T., Davidoff M.J., Bailey W., Bai C.,
RA   Liu Q., Caskey C.T.;
RT   "Identification of two hERR2-related novel nuclear receptors utilizing
RT   bioinformatics and inverse PCR.";
RL   Gene 228:101-109(1999).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   MEDLINE=22459283; PubMed=12508121; DOI=10.1038/nature01348;
RA   Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA   Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA   Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S.,
RA   Sun H., Du H., Pepin K., Artiguenave F., Robert C., Cruaud C.,
RA   Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P.,
RA   Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N.,
RA   Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C.,
RA   Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S.,
RA   Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B.,
RA   Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M.,
RA   Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S.,
RA   Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D.,
RA   Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A.,
RA   Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA   Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA   Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L.,
RA   Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J.,
RA   Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W.,
RA   Quetier F., Waterston R., Hood L., Weissenbach J.;
RT   "The DNA sequence and analysis of human chromosome 14.";
RL   Nature 421:601-607(2003).
RN   [3]
RP   VARIANTS DFNB35 VAL-110; PRO-320; LEU-342; PRO-347 AND MET-389, AND
RP   VARIANT SER-386.
RX   PubMed=18179891; DOI=10.1016/j.ajhg.2007.09.008;
RA   Collin R.W.J., Kalay E., Tariq M., Peters T., van der Zwaag B.,
RA   Venselaar H., Oostrik J., Lee K., Ahmed Z.M., Caylan R., Li Y.,
RA   Spierenburg H.A., Eyupoglu E., Heister A., Riazuddin S., Bahat E.,
RA   Ansar M., Arslan S., Wollnik B., Brunner H.G., Cremers C.W.R.J.,
RA   Karaguzel A., Ahmad W., Cremers F.P.M., Vriend G., Friedman T.B.,
RA   Riazuddin S., Leal S.M., Kremer H.;
RT   "Mutations of ESRRB encoding estrogen-related receptor beta cause
RT   autosomal-recessive nonsyndromic hearing impairment DFNB35.";
RL   Am. J. Hum. Genet. 82:125-138(2008).
CC   -!- SUBUNIT: Homodimer (By similarity).
CC   -!- SUBCELLULAR LOCATION: Nucleus (Potential).
CC   -!- DISEASE: Defects in ESRRB are the cause of non-syndromic
CC       sensorineural deafness autosomal recessive type 35 (DFNB35)
CC       [MIM:608565]. DFNB35 is a form of sensorineural hearing loss.
CC       Sensorineural deafness results from damage to the neural receptors
CC       of the inner ear, the nerve pathways to the brain, or the area of
CC       the brain that receives sound information.
CC   -!- SIMILARITY: Belongs to the nuclear hormone receptor family. NR3
CC       subfamily.
CC   -!- SIMILARITY: Contains 1 nuclear receptor DNA-binding domain.
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DR   EMBL; AF094517; AAC99409.1; -; mRNA.
DR   EMBL; AC008050; AAG17472.1; -; Genomic_DNA.
DR   EMBL; AC016543; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   IPI; IPI00032812; -.
DR   RefSeq; NP_004443.2; -.
DR   UniGene; Hs.435845; -.
DR   PDB; 1LO1; NMR; -; A=97-192.
DR   PDBsum; 1LO1; -.
DR   SMR; O95718; 211-432.
DR   PRIDE; O95718; -.
DR   Ensembl; ENSG00000119715; Homo sapiens.
DR   GeneID; 2103; -.
DR   KEGG; hsa:2103; -.
DR   GeneCards; GC14P075907; -.
DR   HGNC; HGNC:3473; ESRRB.
DR   MIM; 602167; gene.
DR   MIM; 608565; phenotype.
DR   Orphanet; 90636; Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB.
DR   PharmGKB; PA27889; -.
DR   HOVERGEN; O95718; -.
DR   OMA; O95718; ALGAHAN.
DR   NextBio; 8507; -.
DR   ArrayExpress; O95718; -.
DR   Bgee; O95718; -.
DR   CleanEx; HS_ESRRB; -.
DR   GermOnline; ENSG00000119715; Homo sapiens.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro.
DR   GO; GO:0005496; F:steroid binding; IEA:InterPro.
DR   GO; GO:0003707; F:steroid hormone receptor activity; IEA:InterPro.
DR   GO; GO:0003700; F:transcription factor activity; IEA:InterPro.
DR   GO; GO:0008270; F:zinc ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0006355; P:regulation of transcription, DNA-dependent; IEA:UniProtKB-KW.
DR   GO; GO:0007605; P:sensory perception of sound; IEA:UniProtKB-KW.
DR   GO; GO:0006350; P:transcription; IEA:UniProtKB-KW.
DR   InterPro; IPR008946; Nucl_hormone_rcpt_ligand-bd.
DR   InterPro; IPR000536; Nucl_hrmn_rcpt_lig-bd_core.
DR   InterPro; IPR000003; RtnoidX_rcpt.
DR   InterPro; IPR001723; Str_hrmn_rcpt.
DR   InterPro; IPR001628; Znf_hrmn_rcpt.
DR   InterPro; IPR013088; Znf_NHR/GATA.
DR   Gene3D; G3DSA:1.10.565.10; Nucl_hrmn_rcpt_lig_bd; 1.
DR   Gene3D; G3DSA:3.30.50.10; Znf_NHR/GATA; 1.
DR   Pfam; PF00104; Hormone_recep; 1.
DR   Pfam; PF00105; zf-C4; 1.
DR   PRINTS; PR00545; RETINOIDXR.
DR   PRINTS; PR00398; STRDHORMONER.
DR   PRINTS; PR00047; STROIDFINGER.
DR   ProDom; PD000035; Znf_C4steroid; 1.
DR   SMART; SM00430; HOLI; 1.
DR   SMART; SM00399; ZnF_C4; 1.
DR   PROSITE; PS00031; NUCLEAR_REC_DBD_1; 1.
DR   PROSITE; PS51030; NUCLEAR_REC_DBD_2; 1.
PE   1: Evidence at protein level;
KW   3D-structure; Deafness; Disease mutation; DNA-binding; Metal-binding;
KW   Non-syndromic deafness; Nucleus; Receptor; Transcription;
KW   Transcription regulation; Zinc; Zinc-finger.
FT   CHAIN         1    500       Steroid hormone receptor ERR2.
FT                                /FTId=PRO_0000053662.
FT   DNA_BIND    100    175       Nuclear receptor.
FT   ZN_FING     103    123       NR C4-type.
FT   ZN_FING     139    163       NR C4-type.
FT   VARIANT     110    110       A -> V (in DFNB35).
FT                                /FTId=VAR_043503.
FT   VARIANT     320    320       L -> P (in DFNB35).
FT                                /FTId=VAR_043504.
FT   VARIANT     342    342       V -> L (in DFNB35).
FT                                /FTId=VAR_043505.
FT   VARIANT     347    347       L -> P (in DFNB35).
FT                                /FTId=VAR_043506.
FT   VARIANT     386    386       P -> S.
FT                                /FTId=VAR_043507.
FT   VARIANT     389    389       T -> M (in DFNB35; uncertain pathological
FT                                significance).
FT                                /FTId=VAR_043508.
FT   TURN        104    107
FT   STRAND      111    119
FT   HELIX       121    132
FT   HELIX       149    154
FT   HELIX       156    166
FT   HELIX       170    172
SQ   SEQUENCE   500 AA;  55619 MW;  C219C84D914DF1C6 CRC64;
     MSSDDRHLGS SCGSFIKTEP SSPSSGIDAL SHHSPSGSSD ASGGFGLALG THANGLDSPP
     MFAGAGLGGT PCRKSYEDCA SGIMEDSAIK CEYMLNAIPK RLCLVCGDIA SGYHYGVASC
     EACKAFFKRT IQGNIEYSCP ATNECEITKR RRKSCQACRF MKCLKVGMLK EGVRLDRVRG
     GRQKYKRRLD SESSPYLSLQ ISPPAKKPLT KIVSYLLVAE PDKLYAMPPP GMPEGDIKAL
     TTLCDLADRE LVVIIGWAKH IPGFSSLSLG DQMSLLQSAW MEILILGIVY RSLPYDDKLV
     YAEDYIMDEE HSRLAGLLEL YRAILQLVRR YKKLKVEKEE FVTLKALALA NSDSMYIEDL
     EAVQKLQDLL HEALQDYELS QRHEEPWRTG KLLLTLPLLR QTAAKAVQHF YSVKLQGKVP
     MHKLFLEMLE AKAWARADSL QEWRPLEQVP SPLHRATKRQ HVHFLTPLPP PPSVAWVGTA
     QAGYHLEVFL PQRAGWPRAA
//