GREB1L - GREB1 like retinoic acid receptor coactivator Gene

Homo sapiens

Also known as RHDA3; DFNA80; C18orf6; KIAA1772

Gene ID: 80000 | Gene type: protein coding

About GREB1L

Cytogenetic location: 18q11.1-q11.2 Genomic coordinates (GRCh38): 18:21,242,232-21,526,112 (from NCBI)

This gene has 11 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 5 phenotypes. Biased expression in testis (RPKM 2.5), thyroid (RPKM 1.4) and 11 other tissues.

Summary

Acts upstream of or within kidney development. Predicted to be integral component of membrane. Implicated in autosomal dominant nonsyndromic deafness and renal agenesis. [provided by Alliance of Genome Resources, Apr 2022]

GREB1L Products(3)

mRNA	Protein	Name
NM_001142966.3	NP_001136438.1	GREB1-like protein isoform 2
NM_001410867.1	NP_001397796.1	GREB1-like protein isoform 1
NM_001410868.1	NP_001397797.1	GREB1-like protein isoform 3

Protein Preferred Names

Protein Names

GREB1-like protein

growth regulation by estrogen in breast cancer 1 like

Related Diseases

Diseases

Alias

Renal Hypodysplasia/Aplasia 3

RHDA3	Renal Agenesis, Unilateral
Unilateral Renal Agenesis

Deafness, Autosomal Dominant 80

DFNA80

Deafness, Autosomal Dominant, 80

Mayer-Rokitansky-Kuster-Hauser Syndrome

Mrkh Syndrome	Rokitansky Syndrome
Mullerian Aplasia	Mrkh Anomaly
Congenital Absence Of Uterus And Vagina	Congenital Absence Of The Uterus And Vagina
Genital Renal Ear Syndrome	Mayer-Rokitansky-Küster-Hauser Syndrome
Mullerian Dysgenesis	Müllerian Agenesis
Rokitansky Kuster Hauser Syndrome	MRKH
Mullerian Aplasia/Dysgenesis	Von Mayer-Rokitansky-Kuster Anomaly
Mrk Anomaly	Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida
Cauv	Mullerian Agenesis
Aplasia Of The Mullerian Ducts	Mullerian Duct Failure
Müllerian Aplasia	Rokitansky-Kuster-Hauser Syndrome
RKH SYNDROME

Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies

Murcs Association	Mayer-Rokitansky-Kuster-Hauser Syndrome Type 2
Mrkh Syndrome Type 2	Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
MURCS	Klippel-Feil Deformity, Conductive Deafness, And Absent Vagina
Atypical Mrkh Syndrome	Mullerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome
Mayer-Rokitansky-Kuster-Hauser Syndrome, Type Ii	Mrkh, Type Ii
Mullerian Duct Aplasia, Unilateral Renal Aplasia, And Cervicothoracic Somite Dysplasia	Klippel-Feil Deformity - Conductive Deafness - Absent Vagina
Müllerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia

Renal Agenesis, Bilateral

Bilateral Renal Agenesis

Cakut

Renal Or Urinary Tract Malformation	Congenital Anomalies Of Kidney And Urinary Tract
Congenital Anomaly Of Kidney And Urinary Tract	Congenital Anomalies Of The Kidney And Urinary Tract
Kidney And Urinary Tract, Anomalies, Congenital	Renal Hypodysplasia, Nonsyndromic, 1

Bilateral Renal Aplasia

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Renal Hypodysplasia/Aplasia 1

Renal Agenesis	Renal Adysplasia
Renal Aplasia	RHDA1
Hereditary Renal Aplasia	Hra
Hereditary Urogenital Adysplasia	Hypodysplasia/Aplasia, Renal, Type 1
Congenital Absence Of Kidneys Syndrome	Congenital Absence Of Kidney
Aplastic Kidney

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Superior Semicircular Canal Dehiscence

Superior Canal Dehiscence Syndrome	Superior Semicircular Canal Dehiscence Syndrome
Canal Dehiscence Syndrome	Superior Canal Dehiscence
Superior Canal Syndrome	Third Mobile Window Syndrome
Scds	Anemia, Sickle Cell

Branchiootic Syndrome

Bo Syndrome	Branchiootic Dysplasia
Bor	Bo Syndrome 1
Bos1	Branchiootic Syndrome 1

3mc Syndrome

Craniofacial-Ulnar-Renal Syndrome	Malpuech Facial Clefting Syndrome
Oculopalatoskeletal Syndrome	Carnevale Syndrome
Michels Syndrome	Malpuech-Michels-Mingarelli-Carnevale Syndrome
Carnevale-Krajewska-Fischetto Syndrome	Craniosynostosis With Lid Anomalies
Malpuech Syndrome	Mingarelli Syndrome
Oculo-Skeletal-Abdominal Syndrome	Osa Syndrome
Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia	Ptosis-Strabismus-Rectus Abdominis Diastasis

End Stage Renal Disease

End Stage Renal Failure	End-Stage Kidney Disease
Kidney Failure, Chronic	Chronic Kidney Disease Stage 5

Potter'S Syndrome

Potter Sequence	Potter Syndrome
Oligohydramnios Sequence	Congenital Absence Of Kidneys Syndrome

Schwartz-Jampel Syndrome, Type 1

Schwartz-Jampel Syndrome	SJS1
Schwartz-Jampel-Aberfeld Syndrome	Sjs
Chondrodystrophic Myotonia	Schwartz-Jampel Syndrome Type 1
Sja Syndrome	Aberfeld Syndrome
Burton Skeletal Dysplasia	Burton Syndrome
Catel-Hempel Syndrome	Myotonic Chondrodystrophy
Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular And Facial Anomalies	Osteochondromuscular Dystrophy
Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities	Schwartz-Jampel Syndrome 1
Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type	Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria
Schwartz Jampel Syndrome	Myotonic Myopathy Dwarfism Chondrodystrophy And Ocular And Facial Abnormalities
Schwartz Jampel Aberfeld Syndrome	Congenital Blepharophimosis, Myopia, Myopathy Syndrome
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05783	GREB1L Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GREB1L	VGNC	VGNC:104225
Rattus norvegicus	GREB1L	RGD	RGD:1562371
Felis catus	GREB1L	VGNC	VGNC:62707
Mus musculus	GREB1L	MGD	MGI:3576497
Canis familiaris	GREB1L	VGNC	VGNC:53615
Bos taurus	GREB1L	VGNC	VGNC:53641

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