GRHL2 - grainyhead like transcription factor 2 Gene

中文名称：grainyhead 样转录因子 2

种属: Homo sapiens

同用名: BOM; ECTDS; PPCD4; DFNA28; TFCP2L3

基因 ID: 79977 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是一种转录因子，可以作为同二聚体或与 GRHL1 或 GRHL3 形成异二聚体。该基因的缺陷是导致非综合征性感音神经性耳聋常染色体显性遗传 28 型 (DFNA28) 的原因。[RefSeq 提供，2009 年 3 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA-binding transcription activator activity	IDA IDA: 通过直接分析推断	20938050	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	23814079	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: 通过突变表型推断	29309642	GOA
enables DNA-binding transcription factor activity	IDA IDA: 通过直接分析推断	23254293	GOA
enables DNA-binding transcription factor binding	IPI IPI: 通过物理相互作用推断	35013237	GOA
enables chromatin DNA binding	IDA IDA: 通过直接分析推断	21081122	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	12175488	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12175488	GOA
enables sequence-specific DNA binding	IDA IDA: 通过直接分析推断	19015635	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in bicellular tight junction assembly	IMP IMP: 通过突变表型推断	25152456	GOA
involved in cell adhesion	IMP IMP: 通过突变表型推断	25152456	GOA
involved in cell junction assembly	IMP IMP: 通过突变表型推断	25152456	GOA
involved in epithelial cell morphogenesis	IMP IMP: 通过突变表型推断	25152456	GOA
involved in keratinocyte differentiation	IDA IDA: 通过直接分析推断	23254293	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	23814079	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: 通过突变表型推断	29309642	GOA
involved in regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	23254293	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cell-cell junction	IDA IDA: 通过直接分析推断	25152456	GOA
located in nucleus	IDA IDA: 通过直接分析推断	20938050	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GRHL2 蛋白结构

CP2

0
100
200
300
400
500
625 a.a.

蛋白主名

其他名称

grainyhead-like protein 2 homolog

brother of mammalian grainyhead

GRHL2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05788	GRHL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

GRHL2 - grainyhead like transcription factor 2 Gene

关于 GRHL2

功能概要

GRHL2 基因产物(2)

GRHL2 蛋白结构

GRHL2 蛋白互作信息

关联疾病

直系同源

热门区域

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GRHL2 - grainyhead like transcription factor 2 Gene

关于 GRHL2

功能概要

GRHL2 基因产物(2)

GRHL2 蛋白结构

GRHL2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z