Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	80000
Gene name	GREB1 like retinoic acid receptor coactivator
Gene symbol	GREB1L
Synonyms (NCBI Gene)	C18orf6DFNA80KIAA1772RHDA3
Chromosome	18
Chromosome location	18q11.1-q11.2

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
rs1555661907	G>C	Pathogenic	Splice acceptor variant
rs1555662027	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555662052	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555662061	T>C	Pathogenic	Missense variant, coding sequence variant
rs1555663997	G>A	Pathogenic	Missense variant, coding sequence variant
rs1555664772	T>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1555665627	G>-	Pathogenic	Genic downstream transcript variant, splice donor variant, coding sequence variant

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
MIRT708122	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT708121	hsa-miR-603	HITS-CLIP	21572407
MIRT708120	hsa-miR-4704-5p	HITS-CLIP	21572407
MIRT708119	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT708118	hsa-miR-4719	HITS-CLIP	21572407
MIRT708117	hsa-miR-3941	HITS-CLIP	21572407
MIRT708116	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT708115	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT708114	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT708124	hsa-miR-8485	HITS-CLIP	21572407
MIRT708123	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT708122	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT708121	hsa-miR-603	HITS-CLIP	21572407
MIRT708120	hsa-miR-4704-5p	HITS-CLIP	21572407
MIRT708119	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT708118	hsa-miR-4719	HITS-CLIP	21572407
MIRT708117	hsa-miR-3941	HITS-CLIP	21572407
MIRT708116	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT708115	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT708114	hsa-miR-1277-5p	HITS-CLIP	21572407

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
GO:0001822	Process	Kidney development	IMP	29100090
GO:0002009	Process	Morphogenesis of an epithelium	IBA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003231	Process	Cardiac ventricle development	IEA
GO:0016020	Component	Membrane	IEA
GO:0030539	Process	Male genitalia development	IEA
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0048384	Process	Retinoic acid receptor signaling pathway	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0060065	Process	Uterus development	IEA
GO:0060562	Process	Epithelial tube morphogenesis	IEA
GO:0061205	Process	Paramesonephric duct development	IEA
GO:0072177	Process	Mesonephric duct development	IEA

MIM	HGNC	e!Ensembl
617782	31042	ENSG00000141449

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital anomaly of kidney and urinary tract	Likely pathogenic	rs2036991057	RCV001849619	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GREB1L-related disorder	Likely pathogenic; Pathogenic	rs2511627573, rs2511479478, rs2511868254, rs2511993759, rs2511464204	RCV003405773 RCV003402401 RCV003408482 RCV003404548 RCV003982696	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing loss, autosomal dominant 80	Likely pathogenic; Pathogenic	rs2146025908, rs2145813286, rs1555648043, rs1555661490, rs2033773650	RCV001808066 RCV001808265 RCV001374396 RCV001374395 RCV001374397	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inner ear malformation	Pathogenic	rs1555648043, rs1555661490	RCV000677230 RCV000677231	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs1212136611, rs1254264958	RCV003991611 RCV003991612	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mayer Rokitansky Kuster Hauser syndrome type 1	Likely pathogenic; Pathogenic	rs2146025908, rs2511829096	RCV003153249 RCV003153271	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mayer-Rokitansky-Kuster-Hauser syndrome	Pathogenic	rs2035545895, rs2036272504	RCV001257332 RCV001257331	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Pathogenic	rs1377926237, rs2512030033	RCV002247756 RCV003153281	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Profound hearing impairment	Likely pathogenic	rs2033773650	RCV001030796	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal agenesis and hypodysplasia	Likely pathogenic	rs777707946	RCV000845159	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal hypodysplasia/aplasia 3	Pathogenic; Likely pathogenic	rs2144522176, rs2145944441, rs2145944530, rs2511464713, rs2511740184, rs2511993857, rs2036715609, rs2511868849, rs2510948012, rs1208372191, rs2511364809, rs2511868697, rs1555664772, rs1555665627, rs1555660209 View all (14 more)	RCV001374712 RCV001526471 RCV001526472 RCV003148500 RCV003154319 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short stature	Likely pathogenic	rs1567966432	RCV000736151	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Anhydramnios	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant nonsyndromic hearing loss	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL RENAL AGENESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF KIDNEY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF KIDNEYS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 80	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAYER-ROKITANSKY-KUSTER SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME TYPE 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal agenesis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal cortical hyperechogenicity	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, isolated, susceptibility to, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrial Fibrillation	Atrial fibrillation	Pubtator	36653368	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37964281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	29100091		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidney	Renal agenesis	BEFREE	29261186, 31424080		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	ORPHANET_DG	29100090, 29100091		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	29261186, 31424080		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	36371238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	29261186, 31424080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal agenesis, bilateral	Renal Agenesis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal agenesis, unilateral	Renal Agenesis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RENAL HYPODYSPLASIA/APLASIA 3	RENAL HYPODYSPLASIA/APLASIA	UNIPROT_DG	28739660, 29100090, 29100091		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RENAL HYPODYSPLASIA/APLASIA 3	RENAL HYPODYSPLASIA/APLASIA	GENOMICS_ENGLAND_DG	29100091		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RENAL HYPODYSPLASIA/APLASIA 3	RENAL HYPODYSPLASIA/APLASIA	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Scoliosis	Scoliosis	Pubtator	37124138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sirenomelia	Sirenomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	ORPHANET_DG	29100090, 29100091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	BEFREE	31424080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	37124138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GREB1L (GREB1 like retinoic acid receptor coactivator)