GRHL3 - grainyhead like transcription factor 3 Gene

Also Known as SOM; VWS2; TFCP2L4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57822

About GRHL3

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:24,319,357-24,364,482 (from NCBI)

This gene has 12 transcripts (splice variants), 209 orthologues, 5 paralogues and is associated with 7 phenotypes. Biased expression in esophagus (RPKM 31.7), skin (RPKM 14.0) and 1 other tissue.

Summary

This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]

GRHL3 Products (4)

mRNA	Protein	Name
NM_001195010.2	NP_001181939.1	grainyhead-like protein 3 homolog isoform 4
NM_021180.4	NP_067003.2	grainyhead-like protein 3 homolog isoform 1
NM_198173.3	NP_937816.1	grainyhead-like protein 3 homolog isoform 2
NM_198174.3	NP_937817.3	grainyhead-like protein 3 homolog isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	23685552	GOA
enables chromatin DNA binding	IDA IDA: Inferred from direct assay	21081122	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23455924	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	23685552	GOA
acts upstream of or within regulation of actin cytoskeleton organization	IGI IGI: Inferred from genetic interaction	20643356	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	21081122	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

GRHL3 Protein Structure

CP2

0
100
200
300
400
500
626 a.a.

Protein Preferred Names	Protein Names
grainyhead-like protein 3 homolog	sister of mammalian grainyhead

GRHL3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GRHL3	Q8TE85	PRMT5	Homo sapiens	O14744	Anti Tag CoIP	23455924
Intra	GRHL3	Q8TE85	PRMT5	Homo sapiens	O14744	Y2H	23455924
Intra	GRHL3	Q8TE85	PRMT6	Homo sapiens	Q96LA8	Anti Tag CoIP	23455924
Intra	GRHL3	Q8TE85	PRMT6	Homo sapiens	Q96LA8	Y2H	23455924

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Van Der Woude Syndrome 2	VWS2
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Van Der Woude Syndrome	Lip-Pit Syndrome Vws Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip Vdws Lps Lip Pit Syndrome Cleft Lip/Palate With Mucous Cysts Of Lower Lip Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Cleft Soft Palate	Cleft Velum Cleft Velum Palatinum Soft Cleft Palate Soft Palate Perforation
Cleft Hard Palate	Cleft Of Hard Palate Hard Palate Perforation
Submucosal Cleft Palate
Van Der Woude Syndrome 1	Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip VWS1 Vdws Lip-Pit Syndrome Lps Pit Lip Pit Van Der Woude Syndrome
Uvula, Bifid	Bifid Uvula Uvular Cleft Uvula, Cleft Bifidity Of The Uvula
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Deafness, Autosomal Dominant 28	DFNA28 Autosomal Dominant Nonsyndromic Deafness 28 Autosomal Dominant Deafness 28 Deafness, Autosomal Dominant, 28 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28 Deafness, Autosomal Dominant, Type 28
Popliteal Pterygium Syndrome	PPS Faciogenitopopliteal Syndrome Facio-Genito-Popliteal Syndrome Popliteal Web Syndrome Autosomal Dominant Popliteal Pterygium Syndrome Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies Popliteal Pterygium Syndrome 1 Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies Popliteal Pterygium
Fetal Encasement Syndrome	Cocoon Syndrome COCOS Fetal Diseases
Acrofacial Dysostosis, Cincinnati Type	Acrofacial Dysostosis Cincinnati Type AFDCIN Dysostosis, Acrofacial, Cincinnati Type
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hay-Wells Syndrome Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome Aec Syndrome AEC Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome Seres-Santamaria Arimany Muniz Syndrome Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects Ankyloblepharon Ectodermal Defects Cleft Lip/Palate Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate Rapp-Hodgkin Syndrome
Myelomeningocele	Meningomyelocele
Orofacial Cleft	Cleft, Orofacial
Anencephaly	Aprosencephaly Anencephalus Congenital Absence Of Brain Absence Of A Large Part Of The Brain And The Skull Anencephalia Anencephalic Monster Brain Absence Brain Agenesis Brain Aplasia Absent Brain Anencephalic Congenital Absence Of Cerebrum Congenital Hemicrania Incomplete Anencephaly
Meningocele	Isolated Spina Bifida Spina Bifida Cleft Spine Open Spine Rachischisis Spinal Dysraphism Spinal Meningocele Congenital Meningocele
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05789	GRHL3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GRHL3	MGD	MGI:2655333
Felis catus	GRHL3	VGNC	VGNC:62711
Bos taurus	GRHL3	VGNC	VGNC:29636
Macaca mulatta	GRHL3	VGNC	VGNC:73235
Canis familiaris	GRHL3	VGNC	VGNC:41478
Rattus norvegicus	GRHL3	RGD	RGD:1308320
Others	GRHL3	NCBI