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  2. GRHL3 - grainyhead like transcription factor 3 Gene

GRHL3 - grainyhead like transcription factor 3 Gene

中文名称:grainyhead 样转录因子 3

种属: Homo sapiens

同用名: SOM; VWS2; TFCP2L4

基因 ID: 57822 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 grainyhead 转录因子家族的成员。编码的蛋白质可能在发育过程中充当转录因子,并已被证明可以刺激内皮细胞的迁移。已为该基因鉴定出编码不同亚型的多个转录变体。[RefSeq 提供,2010 年 8 月]

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 基因产物(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
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, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
23685552 GOA
enables chromatin DNA binding IDA
IDA: 通过直接分析推断
21081122 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23455924 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
23685552 GOA
acts upstream of or within regulation of actin cytoskeleton organization IGI
IGI: 通过遗传相互作用推断
20643356 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
21081122 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

GRHL3 蛋白结构

CP2

CP2: CP2 transcription factor (225 - 422)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 626 a.a.
蛋白主名 其他名称

grainyhead-like protein 3 homolog

sister of mammalian grainyhead

GRHL3 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
种属内
GRHL3 Q8TE85 PRMT5 Homo sapiens O14744 23455924
种属内
GRHL3 Q8TE85 PRMT5 Homo sapiens O14744
Y2H
23455924
种属内
GRHL3 Q8TE85 PRMT6 Homo sapiens Q96LA8 23455924
种属内
GRHL3 Q8TE85 PRMT6 Homo sapiens Q96LA8
Y2H
23455924
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
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

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

直系同源

种属 基因名 来源 基因 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