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

201

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital anomaly of kidney and urinary tract	Likely pathogenic	rs2036991057	RCV001849619
GREB1L-related disorder	Likely pathogenic; Pathogenic	rs2511627573, rs2511479478, rs2511868254, rs2511993759, rs2511464204	RCV003405773 RCV003402401 RCV003408482 RCV003404548 RCV003982696
Hearing loss, autosomal dominant 80	Likely pathogenic; Pathogenic	rs2146025908, rs2145813286, rs1555648043, rs1555661490, rs2033773650	RCV001808066 RCV001808265 RCV001374396 RCV001374395 RCV001374397
Inner ear malformation	Pathogenic	rs1555648043, rs1555661490	RCV000677230 RCV000677231
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs1212136611, rs1254264958	RCV003991611 RCV003991612
Mayer Rokitansky Kuster Hauser syndrome type 1	Likely pathogenic; Pathogenic	rs2146025908, rs2511829096	RCV003153249 RCV003153271
Mayer-Rokitansky-Kuster-Hauser syndrome	Pathogenic	rs2035545895, rs2036272504	RCV001257332 RCV001257331
	Pathogenic	rs1377926237, rs2512030033	RCV002247756 RCV003153281
Profound hearing impairment	Likely pathogenic	rs2033773650	RCV001030796
Renal agenesis and hypodysplasia	Likely pathogenic	rs777707946	RCV000845159
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 RCV003219195 RCV003236636 RCV003323267 RCV003331740 RCV003384291 RCV003991337 RCV004566644 RCV000534553 RCV000551574 RCV000526997 RCV000534917 RCV000547388 RCV000540979 RCV000548919 RCV000524866 RCV000541288 RCV000553765 RCV005414332 RCV000853334 RCV001174892 RCV001257332 RCV001257331 RCV001281297 RCV001261996
Short stature	Likely pathogenic	rs1567966432	RCV000736151

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Anhydramnios	Uncertain significance	rs2145730102, rs2145407319, rs2036549131	RCV001807661 RCV001807662 RCV001807663
Autosomal dominant nonsyndromic hearing loss	Uncertain significance	rs1333304296	RCV001194620
Renal agenesis	Uncertain significance	rs2145730102, rs2145407319, rs2036549131	RCV001807661 RCV001807662 RCV001807663
Renal cortical hyperechogenicity	Conflicting classifications of pathogenicity	rs1343579561	RCV001526584
Scoliosis, isolated, susceptibility to, 1	Uncertain significance	rs2511782457, rs2511628442	RCV003153276 RCV003153277

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Mullerian aplasia	Associate	32378186, 35361250, 37124138
Neoplasm Metastasis	Associate	37964281
Scoliosis	Associate	37124138
Urogenital adysplasia	Associate	32378186
Uterine Diseases	Associate	37124138

GREB1L (GREB1 like retinoic acid receptor coactivator)