PIGG - phosphatidylinositol glycan anchor biosynthesis class G Gene

中文名称：磷脂酰肌醇聚糖锚生物合成 G 类

种属: Homo sapiens

同用名: EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405; RLGS1930

基因 ID: 54872 | 基因类型: protein coding

关于 PIGG

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:499,210-540,200 (from NCBI)

This gene has 26 transcripts (splice variants), 208 orthologues and is associated with 5 phenotypes. Ubiquitous expression in skin (RPKM 5.1), thyroid (RPKM 4.0) and 25 other tissues.

功能概要

该基因编码一种参与糖基磷脂酰肌醇锚生物合成的酶。编码的蛋白质定位于内质网，参与将磷酸乙醇胺转移到糖基磷脂酰肌醇种类 H7 的甘露糖 2 以形成种类 H8。该基因的等位基因变异与智力障碍、肌张力减退和早发性癫痫发作有关。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 9 月]

This gene encodes an Enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

PIGG 基因产物(14)

mRNA	Protein	Name
NM_001127178.3	NP_001120650.1	GPI ethanolamine phosphate transferase 2 isoform 1
NM_001289051.2	NP_001275980.1	GPI ethanolamine phosphate transferase 2 isoform 3
NM_001289052.2	NP_001275981.1	GPI ethanolamine phosphate transferase 2 isoform 4
NM_001289053.2	NP_001275982.1	GPI ethanolamine phosphate transferase 2 isoform 5
NM_001289055.2	NP_001275984.1	GPI ethanolamine phosphate transferase 2 isoform 6
NM_001289057.2	NP_001275986.1	GPI ethanolamine phosphate transferase 2 isoform 7
NM_001345986.2	NP_001332915.1	GPI ethanolamine phosphate transferase 2 isoform 3
NM_001345987.2	NP_001332916.1	GPI ethanolamine phosphate transferase 2 isoform 8
NM_001345988.2	NP_001332917.1	GPI ethanolamine phosphate transferase 2 isoform 9
NM_001345989.2	NP_001332918.1	GPI ethanolamine phosphate transferase 2 isoform 10
NM_001345990.2	NP_001332919.1	GPI ethanolamine phosphate transferase 2 isoform 11 precursor
NM_001345991.2	NP_001332920.1	GPI ethanolamine phosphate transferase 2 isoform 11 precursor
NM_001345994.2	NP_001332923.1	GPI ethanolamine phosphate transferase 2 isoform 12
NM_017733.5	NP_060203.3	GPI ethanolamine phosphate transferase 2 isoform 2

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 CP2 mannose-ethanolamine phosphotransferase activity	IDA IDA: 通过直接分析推断	15632136	GOA
enables transferase activity	IMP IMP: 通过突变表型推断	34113002	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within GPI anchor biosynthetic process	IDA IDA: 通过直接分析推断	15632136	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	15632136	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

PIGG 蛋白结构

Phosphodiest

0
200
400
600
800
983 a.a.

蛋白主名

其他名称

GPI ethanolamine phosphate transferase 2

EMM blood group antigen

关联疾病

疾病名称

别名

Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy

Glycosylphosphatidylinositol Biosynthesis Defect 13	Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Gpibd13	NEDHCAS
Glycosylphosphatidylinositol Biosynthesis Defect 22	Gpibd22
NEDHSCA	Intellectual Developmental Disorder, Autosomal Recessive 53, Formerly
Mrt53, Formerly	Mental Retardation, Autosomal Recessive 53, Formerly
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Congenital Disorder Of Glycosylation Due To Pigg Deficiency
Pigg-Cdg	Intellectual Developmental Disorder, Autosomal Recessive 53
MRT53

Blood Group, Emm System

EMM

Hyperphosphatasia With Mental Retardation Syndrome 1

Mabry Syndrome	Hyperphosphatasia With Intellectual Disability Syndrome 1
HPMRS1	Glycosylphosphatidylinositol Biosynthesis Defect 2
Gpibd2	Hyperphosphatasia With Mental Retardation Syndrome
Hyperphosphatasia With Seizures And Neurologic Deficit	Hyperphosphatasia, With Mental Retardation Syndrome, Type 1
Hyperphosphatasia With Mental Retardation

Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome	WHS
Chromosome 4p16.3 Deletion Syndrome	Wittwer Syndrome
4p- Syndrome	Pitt Syndrome
4p Deletion Syndrome	Distal Deletion 4p
Distal Monosomy 4p	Telomeric Deletion 4p
Prds	4p Syndrome
Chromosome 4p Syndrome	Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
Wolf Syndrome	Chromosome 4p Deletion Syndrome
Chromosome 4p Monosomy	Del Syndrome
Monosomy 4p	Partial Monosomy 4p
Chromosome 4 Short Arm Deletion

Anterior Segment Dysgenesis 4

Iridogoniodysgenesis Syndrome	Iridogoniodysgenesis, Type 2
Irid2	Iridogoniodysgenesis Type 2
ASGD4	Igds
Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant	Ihga
Irid 1	Irid 2
Iridogoniodysgenesis Type 1	Igds2
Iridogoniodysgenesis Syndrome 2	Iridogoniodysgenesis, Type 1

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

MCAHS1	Glycosylphosphatidylinositol Biosynthesis Defect 3
Gpibd3	Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1

Hypotonia

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Pign-Cdg	Congenital Disorder Of Glycosylation Due To Pign Deficiency
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Mcahs1

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome

Chime Syndrome	Zunich Neuroectodermal Syndrome
Zunich-Kaye Syndrome	CHIME
Glycosylphosphatidylinositol Biosynthesis Defect 5	Gpibd5
Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome	Congenital Disorder Of Glycosylation Due To Pigl Deficiency
Neuroectodermal Dysplasia, Chime Type	Neuroectodermal Syndrome, Zunich Type
Pigl-Cdg	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability And Ear Anomalies Syndrome
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, And Ear Anomalies Syndrome

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

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-RS10491	PIGG Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	PIGG	VGNC	VGNC:54468
Canis familiaris	PIGG	VGNC	VGNC:44533
Mus musculus	PIGG	MGD	MGI:3576484
Macaca mulatta	PIGG	VGNC	VGNC:75865
Felis catus	PIGG	VGNC	VGNC:64164
Rattus norvegicus	PIGG	RGD	RGD:1560335

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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）

PIGG - phosphatidylinositol glycan anchor biosynthesis class G Gene

关于 PIGG

功能概要

PIGG 基因产物(14)

PIGG 蛋白结构

关联疾病

直系同源

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PIGG - phosphatidylinositol glycan anchor biosynthesis class G Gene

关于 PIGG

功能概要

PIGG 基因产物(14)

PIGG 蛋白结构

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