GRHL3 - grainyhead like transcription factor 3 Gene

Homo sapiens

Also known as SOM; VWS2; TFCP2L4

Gene ID: 57822 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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

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