GREB1L (GREB1 like retinoic acid receptor coactivator)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80000
Gene name Gene Name - the full gene name approved by the HGNC.
GREB1 like retinoic acid receptor coactivator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GREB1L
Synonyms (NCBI Gene) Gene synonyms aliases
C18orf6, DFNA80, KIAA1772, RHDA3
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q11.1-q11.2
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
SNP ID Visualize variation Clinical significance Consequence
rs1480442865 C>T Likely-pathogenic Missense variant, coding sequence variant
rs1555654020 C>T Pathogenic Missense variant, coding sequence variant
rs1555659101 C>T Pathogenic Stop gained, coding sequence variant
rs1555660209 ->C Pathogenic Frameshift variant, coding sequence variant
rs1555661490 G>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(25)
miRTarBase ID miRNA Experiments Reference
MIRT029726 hsa-miR-26b-5p Microarray 19088304
MIRT041893 hsa-miR-484 CLASH 23622248
MIRT040794 hsa-miR-18a-3p CLASH 23622248
MIRT708124 hsa-miR-8485 HITS-CLIP 21572407
MIRT708123 hsa-miR-329-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0001656 Process Metanephros development IEA
GO:0001658 Process Branching involved in ureteric bud morphogenesis IEA
GO:0001822 Process Kidney development IBA
GO:0001822 Process Kidney development IDA 29100091
GO:0001822 Process Kidney development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617782 31042 ENSG00000141449
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9C091
Protein name GREB1-like protein (Growth regulation by estrogen in breast cancer 1-like protein)
Protein function Plays a major role in early metanephros and genital development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15782 GREB1 1 → 1923 Gene regulated by oestrogen in breast cancer Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with prominent expression in the cochlea (PubMed:29955957). Expressed at high levels in fetal kidney (PubMed:29100091). In adult tissues, highest levels in vagina, cervix and epididymis (PubMed:29100091). {ECO:0000269
Sequence 
MGNSYAGQLKSARFEEALHNSIEASLRCSSVVPRPIFSQLYLDPDQHPFSSADVKPKVED
LDKDLVNRYTQNGSLDFSNNLTVNEMEDDEDDEEMSDSNSPPIPYSQKPAPEGSCTTDGF
CQAGKDLRLVSLCMEQIDIPAGFLLVGAKSPNLPEHILVCAVDKRFLPDDHGKNALLGFS
GNCIGCGERGFRYFTEFSNHINLKLTTQPKKQKHLKYYLVRSSQGVLSKGPLICWKECRS
RQSSASCHSIKPSSSVSSTVTPENGTTNGYKSGFTQTDAANGNSSHGGKGSASSSTPAHT
GNYSLSPRPSYASGDQATMFISGPPKKRHRGWYPGSPLPQPGLVVPVPTVRPLSRTEPLL
SAPVPQTPLTGILQPRPIPAGETVIVPENLLSNSGVRPVILIGYGTLPYFYGNVGDIVVS
PLLVNCYKIPQLENKDLEKLGLTGSQFLSVENMILLTIQYLVRLGPDQVPLREEFEQIML
KAMQEFTLRERALQIGAQCVPVSPGQLPWLARLIASVSQDLVHVVVTQNSLAEGISETLR
TLSEMRHYQRLPDYVVVICASKIRGNEFCVVVLGQHQSRALAESMLTTSEFLKEISYELI
TGKVSFLASHFKTTSLGDDLDKLLEKMQQRRGDSVVTPFDGDLNECVSPQEAAAMIPTQN
LDLDNETFHIYQPQLTVARKLLSQVCAIADSGSQSLDLGHFSKVDFIIIVPRSEVLVQQT
LQRIRQSGVLVDLGLEENGTAHQRAEKYVVRLDNEIQTKFEVFMRRVKQNPYTLFVLVHD
NSHVELTSVISGSLSHSEPSHGLADRVINCREVLEAFNLLVLQVSSFPYTLQTQQSRISS
SNEVHWIQLDTGEDVGCEEKLYFGLSEYSKSLQWGITSPLLRCDETFEKMVNTLLERYPR
LHSMVVRCYLLIQQYSEALMALTTMASLRDHSTPETLSIMDDLISSPGKNKSGRGHMLII
RVPSVQLAMLAKERLQEVRDKLGLQYRFEIILGNPATELSVATHFVARLKSWRGNEPEEW
IPRTYQDLDGLPCIVILTGKDPLGETFPRSLKYCDLRLIDSSYLTRTALEQEVGLACCYV
SKEVIRGPTVALDLSGKEQERAAVSENDSDELLIDLERPQSNSSAVTGTSGSIMENGVSS
SSTADKSQKQSLTPSFQSPATSLGLDEGVSASSAGAGAGETLKQECDSLGPQMASSTTSK
PSSSSSGPRTLPWPGQPIRGCRGPQAALPPVVILSKAAYSLLGSQKSGKLPSSSSLLPHA
DVAWVSSLRPLLNKDMSSEEQSLYYRQWTLARQHHADYSNQLDPASGTRNFHPRRLLLTG
PPQVGKTGSYLQFLRILFRMLIRLLEVDVYDEEEINTDHNESSEVSQSEGEPWPDIESFS
KMPFDVSVHDPKYSLMSLVYTEKLAGVKQEVIKESKVEEPRKRETVSIMLTKYAAYNTFH
HCEQCRQYMDFTSASQMSDSTLHAFTFSSSMLGEEVQLYFIIPKSKESHFVFSKQGKHLE
SMRLPLVSDKNLNAVKSPIFTPSSGRHEHGLLNLFHAMEGISHLHLLVVKEYEMPLYRKY
WPNHIMLVLPGMFNNAGVGAARFLIKELSYHNLELERNRLEELGIKRQCVWPFIVMMDDS
CVLWNIHSVQEPSSQPMEVGVSSKNVSLKTVLQHIEATPKIVHYAILGIQKWSSKLTSQS
LKAPFSRCHVHDFILLNTDLTQNVQYDFNRYFCEDADFNLRTNSSGLLICRFNNFSLMKK
HVQVGGQRDFIIKPKIMVSESLAPILPLQYICAPDSEHTLLAAPAQFLLEKFLQHASYKL
FPKAIHNFRSPVLAIDCYLNIGPEVAICYISSRPHSSNVNCEGVFFSGLLLYLCDSFVGA
DLKKFKFLKGATLCVICQDRSSLRQTIVRLELEDEWQFRLRDEFQTANSSDDKPLYFLTG
RHV
Sequence length 1923
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
RENAL HYPODYSPLASIA/APLASIA renal hypodysplasia/aplasia 3 rs1555649811, rs1555661907, rs1555650110, rs1555662027, rs1480442865, rs1555664772, rs1555665627, rs1555660209, rs1555662052, rs1555662061, rs1555659101 N/A
Hearing Loss Hearing loss, autosomal dominant 80 rs1555648043, rs1555661490, rs2033773650 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital anomalies of kidney and urinary tract Congenital anomaly of kidney and urinary tract N/A N/A ClinVar
Renal Agenesis renal agenesis, unilateral, bilateral renal agenesis N/A N/A GenCC
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 39684334
Adenocarcinoma of Lung Stimulate 34168239
Adenocarcinoma of Lung Associate 37964281
Atrial Fibrillation Associate 36653368
Breast Neoplasms Associate 37964281
Hereditary renal agenesis Associate 29261186, 32378186, 36371238, 38309594
Jensen syndrome Associate 31985533
Kidney Neoplasms Associate 36371238
Labyrinth Diseases Associate 31985533
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa Associate 38614076