Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 9687
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol GREB1   Gene   UCSC   Ensembl
Gene name growth regulation by estrogen in breast cancer 1
Alternate names protein GREB1, gene regulated by estrogen in breast cancer, gene regulated in breast cancer 1 protein,
Gene location 2p25.1 (11534115: 11642787)     Exons: 38     NC_000002.12
Gene summary(Entrez) This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
OMIM 611736

SNPs

rs13394619

Strand: +   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000002.11   g.11727507G>A
NC_000002.12   g.11587381G>A
NG_029429.1   g.58266G>A
NM_014668.3   c.1160-1365G>A
NM_033090.2   c.1160-1365G>A
NM_148903.2   c.1160-1G>A
XM_005246191.1   c.1160-1365G>A
XM_005246192.1   c.1160-1365G>A
XM_005246192.4   c.1160-1365G>A
XM_005246  

Protein Summary

Protein general information Q4ZG55  

Name: Protein GREB1 (Gene regulated in breast cancer 1 protein)

Length: 1949  Mass: 216,467

Tissue specificity: Expressed in proliferating prostatic tissue and prostate cancer. {ECO

Sequence MGNSYAGQLKTTRFEEVLHNSIEASLRSNNLVPRPIFSQLYLEAEQQLAALEGGSRVDNEEEEEEGEGGLETNGP
PNPFQLHPLPEGCCTTDGFCQAGKDLRLVSISNEPMDVPAGFLLVGVKSPSLPDHLLVCAVDKRFLPDDNGHNAL
LGFSGNCVGCGKKGFCYFTEFSNHINLKLTTQPKKQKHLKYYLVRNAQGTLTKGPLICWKGSEFRSRQIPASTCS
SSLFPALESTAAFPSEPVPGTNPSILMGAQQAGPASDHPSLNAAMGPAVFNGKDSPKCQQLAKNNLLALPRPSAL
GILSNSGPPKKRHKGWSPESPSAPDGGCPQGGGNRAKYESAGMSCVPQVGLVGPASVTFPVVASGEPVSVPDNLL
KICKAKPVIFKGHGNFPYLCGNLNDVVVSPLLYTCYQNSQSVSRAYEQYGASAIQPISEEMQLLLTVYYLVQLAA
DQVPLMEDLEQIFLRSWRESHLTEIRQYQQAPPQPFPPAPSAAAPVTSAQLPWLASLAASSCNDSVHVIECAYSL
AEGLSEMFRLLVEGKLAKTNYVVIICACRSAAIDSCIAVTGKYQARILSESLLTPAEYQKEVNYELVTGKVDSLG
AFFSTLCPEGDIDILLDKFHQENQGHISSSLAASSVTKAASLDVSGTPVCTSYNLEPHSIRPFQLAVAQKLLSHV
CSIADSSTQNLDLGSFEKVDFLICIPPSEVTYQQTLLHVWHSGVLLELGLKKEHMTKQRVEQYVLKLDTEAQTKF
KAFLQNSFQNPHTLFVLIHDHAHWDLVSSTVHNLYSQSDPSVGLVDRLLNCREVKEAPNIVTLHVTSFPYALQTQ
HTLISPYNEIHWPASCSNGVDLYHENKKYFGLSEFIESTLSGHSLPLLRYDSSFEAMVTALGKRFPRLHSAVIRT
FVLVQHYAAALMAVSGLPQMKNYTSVETLEITQNLLNSPKQCPCGHGLMVLLRVPCSPLAVVAYERLAHVRARLA
LEEHFEIILGSPSSGVTVGKHFVKQLRMWQKIEDVEWRPQTYLELEGLPCILIFSGMDPHGESLPRSLRYCDLRL
INSSCLVRTALEQELGLAAYFVSNEVPLEKGARNEALESDAEKLSSTDNEDEELGTEGSTSEKRSPMKRERSRSH
DSASSSLSSKASGSALGGESSAQPTALPQGEHARSPQPRGPAEEGRAPGEKQRPRASQGPPSAISRHSPGPTPQP
DCSLRTGQRSVQVSVTSSCSQLSSSSGSSSSSVAPAAGTWVLQASQCSLTKACRQPPIVFLPKLVYDMVVSTDSS
GLPKAASLLPSPSVMWASSFRPLLSKTMTSTEQSLYYRQWTVPRPSHMDYGNRAEGRVDGFHPRRLLLSGPPQIG
KTGAYLQFLSVLSRMLVRLTEVDVYDEEEININLREESDWHYLQLSDPWPDLELFKKLPFDYIIHDPKYEDASLI
CSHYQGIKSEDRGMSRKPEDLYVRRQTARMRLSKYAAYNTYHHCEQCHQYMGFHPRYQLYESTLHAFAFSYSMLG
EEIQLHFIIPKSKEHHFVFSQPGGQLESMRLPLVTDKSHEYIKSPTFTPTTGRHEHGLFNLYHAMDGASHLHVLV
VKEYEMAIYKKYWPNHIMLVLPSIFNSAGVGAAHFLIKELSYHNLELERNRQEELGIKPQDIWPFIVISDDSCVM
WNVVDVNSAGERSREFSWSERNVSLKHIMQHIEAAPDIMHYALLGLRKWSSKTRASEVQEPFSRCHVHNFIILNV
DLTQNVQYNQNRFLCDDVDFNLRVHSAGLLLCRFNRFSVMKKQIVVGGHRSFHITSKVSDNSAAVVPAQYICAPD
SKHTFLAAPAQLLLEKFLQHHSHLFFPLSLKNHDHPVLSVDCYLNLGSQISVCYVSSRPHSLNISCSDLLFSGLL
LYLCDSFVGASFLKKFHFLKGATLCVICQDRSSLRQTVVRLELEDEWQFRLRDEFQTANAREDRPLFFLTGRHI
Structural information
Interpro:  IPR028422

Pfam:  
PF15782
STRING:   ENSP00000234142;
Other Databases GeneCards:  GREB1;  Malacards:  GREB1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component

Diseases

Associated diseases References
Celiac disease PMID: 19240061
Endometriosis PMID: 22884659
Hyperandrogenism PMID: 23876972
Polycystic ovary syndrome (PCOS) PMID: 23876972
Endometriosis INFBASE22884659

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26337243 Endometrio
sis
rs7521902, rs13394619, rs4141819, rs6542095, rs1519761, rs7739264, rs12700667, rs1537377, and rs10859871 Belgian
, Europ
ean
1977 (1077 endo
metriosis cases
, 900 controls)
CDKN2BAS
GREB1
Show abstract
25788566 Endometrio
sis
rs13394619
>6500 (>2500 ca
ses and >4000 c
ontrols)

Show abstract
23104006 Endometrio
sis
rs12700667, rs7521902, rs13394619, rs10859871, rs7739264, rs1537377 Europea
n, Japa
nese
13997 (4,604 en
dometriosis cas
es, 9,393 contr
ols)
WNT4
GREB1
VEZT
Show abstract
22884659 Endometrio
sis

91 (59 patients
with endometri
osis, 32 contro
ls)
c-myc
cyclin D1
GREB1
Show abstract