GRHL2 - grainyhead like transcription factor 2 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 79977

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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS27463	Grhl2 Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

生物種	Symbol	由来	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