2. Gene
  3. PDZD8 - PDZ domain containing 8 Gene

PDZD8 - PDZ domain containing 8 Gene

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

中文名称：含 PDZ 域 8

种属: Homo sapiens

同用名: PDZK8; IDDADF

基因 ID: 118987 | 基因类型: protein coding

关于 PDZD8

Cytogenetic location: 10q25.3-q26.11 Genomic coordinates (GRCh38): 10:117,277,274-117,375,440 (from NCBI)

This gene has 4 transcripts (splice variants) and 207 orthologues. Broad expression in bone marrow (RPKM 51.5), testis (RPKM 17.7) and 24 other tissues.

功能概要

预计能够实现脂质结合活性和金属离子结合活性。参与多个过程，包括线粒体钙离子稳态；线粒体-内质网膜束缚；和细胞形态发生的调节。位于内质网膜和线粒体相关内质网膜。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable lipid binding activity and metal ion binding activity. Involved in several processes, including mitochondrial calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and regulation of cell morphogenesis. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

PDZD8 基因产物(1)

mRNA Protein Name
NM_173791.5 NP_776152.1 PDZ domain-containing protein 8
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
34237247 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cytoskeleton organization IMP
IMP: 通过突变表型推断
21834987 GOA
involved in mitochondrial calcium ion homeostasis IDA
IDA: 通过直接分析推断
29097544 GOA
involved in mitochondrion-endoplasmic reticulum membrane tethering IDA
IDA: 通过直接分析推断
29097544 GOA
involved in regulation of cell morphogenesis IMP
IMP: 通过突变表型推断
21834987 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
29097544 GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site IDA
IDA: 通过直接分析推断
29097544 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

PDZD8 蛋白结构

PDZ_2

PDZ_2: PDZ domain (385 - 447)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (841 - 884)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1154 a.a.
蛋白主名 其他名称

PDZ domain-containing protein 8

sarcoma antigen NY-SAR-84/NY-SAR-104

关联疾病

疾病名称 别名
Intellectual Developmental Disorder With Autism And Dysmorphic Facies

IDDADF
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10304 PDZD8 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21687 Pdzd8 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28205 Pdzd8 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus PDZD8 VGNC VGNC:64104
Mus musculus PDZD8 MGD MGI:2677270
Bos taurus PDZD8 VGNC VGNC:32728
Macaca mulatta PDZD8 VGNC VGNC:106086
Rattus norvegicus PDZD8 RGD RGD:1308622
Canis familiaris PDZD8 VGNC VGNC:44402
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