2. Gene
  3. PACS2 - phosphofurin acidic cluster sorting protein 2 Gene

PACS2 - phosphofurin acidic cluster sorting protein 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：磷酸呋喃酸性簇分选蛋白 2

种属: Homo sapiens

同用名: DEE66; EIEE66; PACS-2; PACS1L

基因 ID: 23241 | 基因类型: protein coding

关于 PACS2

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:105,300,774-105,398,147 (from NCBI)

This gene has 20 transcripts (splice variants), 236 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 15.4), testis (RPKM 10.2) and 25 other tissues.

功能概要

预测启用跨膜转运蛋白结合活性。参与内质网钙离子稳态；线粒体-内质网膜束缚；和蛋白质定位到质膜。在蛋白质定位到吞噬泡组装位点的上游或内部起作用。位于内质网和线粒体中。涉及发育和癫痫性脑病 66。[由基因组资源联盟提供，2022 年 4 月]

Predicted to enable transmembrane transporter binding activity. Involved in endoplasmic reticulum calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and protein localization to plasma membrane. Acts upstream of or within protein localization to phagophore assembly site. Located in endoplasmic reticulum and mitochondrion. Implicated in developmental and epileptic encephalopathy 66. [provided by Alliance of Genome Resources, Apr 2022]

PACS2 基因产物(3)

mRNA Protein Name
NM_001100913.3 NP_001094383.2 phosphofurin acidic cluster sorting protein 2 isoform 1
NM_001243127.3 NP_001230056.1 phosphofurin acidic cluster sorting protein 2 isoform 3
NM_015197.4 NP_056012.2 phosphofurin acidic cluster sorting protein 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 protein binding IPI
IPI: 通过物理相互作用推断
19481529 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within autophagosome assembly IDA
IDA: 通过直接分析推断
23455425 GOA
involved in endoplasmic reticulum calcium ion homeostasis IMP
IMP: 通过突变表型推断
15692567 GOA
involved in mitochondrion-endoplasmic reticulum membrane tethering IMP
IMP: 通过突变表型推断
15692567 GOA
acts upstream of or within protein localization to phagophore assembly site IDA
IDA: 通过直接分析推断
23455425 GOA
involved in protein localization to plasma membrane IMP
IMP: 通过突变表型推断
15692563 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
15692563 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

PACS2 蛋白结构

Pacs-1

Pacs-1: PACS-1 cytosolic sorting protein (473 - 886)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 889 a.a.
蛋白主名 其他名称

phosphofurin acidic cluster sorting protein 2

PACS1-like protein

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 66

DEE66

Epileptic Encephalopathy, Early Infantile, 66

Eiee66

Developmental And Epileptic Encephalopathy, 66

Early Infantile Epileptic Encephalopathy 66

Encephalopathy, Epileptic, Early Infantile, Type 66
Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 1
West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic
Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Neurooculocardiogenitourinary Syndrome

NOCGUS
Schuurs-Hoeijmakers Syndrome

SHMS

Pacs1-Related Syndrome

Mrd17

Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 17

Autosomal Dominant Intellectual Disability-17

Autosomal Dominant Mental Retardation 17

Pacs1 Syndrome

Mental Retardation, Autosomal Dominant 17
Intellectual Developmental Disorder, Autosomal Dominant 13

MRD13

Mental Retardation, Autosomal Dominant 13

Mental Retardation, Autosomal Dominant 13, With Neuronal Migration Defects

Autosomal Dominant Non-Syndromic Intellectual Disability 13

Autosomal Dominant Intellectual Developmental Disorder 13

Autosomal Dominant Mental Retardation 13

Mental Retardation, Autosomal Dominant, Type 13
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09956 PACS2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PACS2 VGNC VGNC:44230
Macaca mulatta PACS2 VGNC VGNC:75671
Rattus norvegicus PACS2 RGD RGD:1597262
Bos taurus PACS2 VGNC VGNC:53946
Mus musculus PACS2 MGD MGI:1924399
Felis catus PACS2 VGNC VGNC:64020
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