GREB1L - GREB1 like retinoic acid receptor coactivator Gene

Also Known as RHDA3; DFNA80; C18orf6; KIAA1772

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80000

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

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Referencias	Source
acts upstream of or within kidney development	IDA IDA: Inferred from direct assay	29100091	GOA
involved in kidney development	IMP IMP: Inferred from mutant phenotype	29100090	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS05783	GREB1L Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	GREB1L	NCBI