GRHL2 - grainyhead like transcription factor 2 Gene

Homo sapiens

Also known as BOM; ECTDS; PPCD4; DFNA28; TFCP2L3

Gene ID: 79977 | Gene type: protein coding

About GRHL2

Cytogenetic location: 8q22.3 Genomic coordinates (GRCh38): 8:101,492,439-101,681,200 (from NCBI)

This gene has 6 transcripts (splice variants), 276 orthologues, 5 paralogues and is associated with 8 phenotypes. Broad expression in skin (RPKM 14.0), prostate (RPKM 13.5) and 14 other tissues.

Summary

The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]

GRHL2 Products(2)

mRNA	Protein	Name
NM_001330593.2	NP_001317522.1	grainyhead-like protein 2 homolog isoform 2
NM_024915.4	NP_079191.2	grainyhead-like protein 2 homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity	IDA IDA: Inferred from direct assay	20938050	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	23814079	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	29309642	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	23254293	GOA
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	35013237	GOA
enables chromatin DNA binding	IDA IDA: Inferred from direct assay	21081122	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	12175488	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12175488	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	19015635	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in bicellular tight junction assembly	IMP IMP: Inferred from mutant phenotype	25152456	GOA
involved in cell adhesion	IMP IMP: Inferred from mutant phenotype	25152456	GOA
involved in cell junction assembly	IMP IMP: Inferred from mutant phenotype	25152456	GOA
involved in epithelial cell morphogenesis	IMP IMP: Inferred from mutant phenotype	25152456	GOA
involved in keratinocyte differentiation	IDA IDA: Inferred from direct assay	23254293	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	23814079	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	29309642	GOA
involved in regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	23254293	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell-cell junction	IDA IDA: Inferred from direct assay	25152456	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20938050	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

GRHL2 Protein Structure

CP2

0
100
200
300
400
500
625 a.a.

Protein Preferred Names

Protein Names

grainyhead-like protein 2 homolog

brother of mammalian grainyhead

GRHL2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GRHL2	Q6ISB3	GRHL1	Homo sapiens	Q9NZI5	Anti Tag CoIP	28514442
Intra	GRHL2	Q6ISB3	GRHL2	Homo sapiens	Q6ISB3	Y2H	12175488
Intra	GRHL2	Q6ISB3	LMO4	Homo sapiens	P61968	Y2H Array	25416956
Intra	GRHL2	Q6ISB3	PIAS2	Homo sapiens	O75928-2	Y2H Array	32296183
Intra	GRHL2	Q6ISB3	LMO4	Homo sapiens	P61968	Y2H Prey Pooling	25416956
Intra	GRHL2	Q6ISB3	PAX5	Homo sapiens	Q02548	Y2H Array	32296183
Intra	GRHL2	Q6ISB3	PAX6	Homo sapiens	P26367	Y2H Prey Pooling	32296183
Intra	GRHL2	Q6ISB3	GRHL2	Homo sapiens	Q6ISB3	Pull Down	12175488
Intra	GRHL2	Q6ISB3	PAX5	Homo sapiens	Q02548	Y2H Prey Pooling	32296183
Intra	GRHL2	Q6ISB3	GRHL1	Homo sapiens	Q9NZI5	Anti Tag CoIP	33961781
Intra	GRHL2	Q6ISB3	PAX6	Homo sapiens	P26367	Y2H Array	32296183
Intra	GRHL2	Q6ISB3	LMO4	Homo sapiens	P61968	Validated Y2H	25416956
Intra	GRHL2	Q6ISB3	PIAS2	Homo sapiens	O75928-2	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Ectodermal Dysplasia/Short Stature Syndrome

Nail And Teeth Abnormalities-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome	ECTDS
Ectodermal Dysplasia-Short Stature Syndrome	Short Stature-Nail Dysplasia-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome
Dysplasia, Ectodermal/Short Stature Syndrome

Corneal Dystrophy, Posterior Polymorphous, 4

PPCD4

Posterior Polymorphous Corneal Dystrophy 4

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

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy	Ppcd
Maumenee Corneal Dystrophy	Posterior Polymorphous Corneal Dystrophy 1
PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior
Corneal Endothelial Dystrophy 1, Autosomal Dominant	Schlichting Dystrophy
Ched1	Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
Ched1, Formerly	Hereditary Polymorphus Posterior Corneal Dystrophy
Posterior Polymorphous Dystrophy	Hereditary Polymorphous Posterior Corneal Dystrophy
Dystrophy, Corneal, Posterior Polymorphous	Dystrophy, Corneal, Posterior Polymorphous, Type 1
Polymorphous Corneal Dystrophy	Corneal Endothelial Dystrophy 2

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna	Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Corneal Dystrophy

Posterior Corneal Dystrophy

Corneal Edema

Corneal Oedema

Infiltrate Of Cornea

Ectodermal Dysplasia

Congenital Ectodermal Defect	Congenital Ectodermal Dysplasia
Ectodermal Dysplasia Syndrome	Dysplasia, Ectodermal

Deafness, Autosomal Dominant 18

DFNA18	Autosomal Dominant Nonsyndromic Deafness 18
Autosomal Dominant Deafness 18

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

Corneal Dystrophy, Posterior Polymorphous, 3

Posterior Polymorphous Corneal Dystrophy 3	PPCD3
Dystrophy, Corneal, Posterior Polymorphous, Type 3

Ectodermal Dysplasia 9, Hair/Nail Type

ECTD9	Ectodermal Dysplasia 9
Dysplasia, Ectodermal, Type 9, Hair/Nail

Gastric Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Stomach

Squamous Cell Carcinoma Of The Stomach

Deafness, Autosomal Dominant 10

DFNA10	Autosomal Dominant Nonsyndromic Deafness 10
Autosomal Dominant Deafness 10	Deafness, Autosomal Dominant, 10
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10
Deafness, Autosomal Dominant, Type 10

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

Ectodermal Dysplasia 4, Hair/Nail Type

Pure Hair And Nail Ectodermal Dysplasia	ECTD4
Ectodermal Dysplasia, Pure Hair-Nail Type	Ectodermal Dysplasia, 'Pure' Hair/Nail Type
Hned	Hair-Nail Ectodermal Dysplasia
Phned	Ectodermal Dysplasia Pure Hair-Nail Type
Ectodermal Dysplasia, 'Pure' Hair-Nail Type	Dysplasia, Ectodermal, Type 4, Hair/Nail

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

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

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

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-RS05788	GRHL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GRHL2	RGD	RGD:1561191
Felis catus	GRHL2	VGNC	VGNC:62710
Canis familiaris	GRHL2	VGNC	VGNC:41477
Macaca mulatta	GRHL2	VGNC	VGNC:73248
Bos taurus	GRHL2	VGNC	VGNC:29635
Mus musculus	GRHL2	MGD	MGI:2182543
Others	GRHL2	NCBI

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