2. Gene
  3. PRDM8 - PR/SET domain 8 Gene

PRDM8 - PR/SET domain 8 Gene

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

中文名称：PR/SET 域 8

种属: Homo sapiens

同用名: PFM5; EPM10; KMT8D

基因 ID: 56978 | 基因类型: protein coding

关于 PRDM8

Cytogenetic location: 4q21.21 Genomic coordinates (GRCh38): 4:80,185,270-80,204,329 (from NCBI)

This gene has 10 transcripts (splice variants), 195 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in prostate (RPKM 8.4), brain (RPKM 5.3) and 17 other tissues.

功能概要

该基因编码的蛋白质属于保守的组蛋白甲基转移酶家族，主要充当转录的负调节因子。编码的蛋白质包含一个 N 端 Su (var) 3-9、Enhancer-of-zeste 和 Trithorax (SET) 结构域以及一个双锌指结构域。在小鼠中敲除该基因会导致背侧端脑神经元的错误定位、异常的瘙痒样行为和杆状双极细胞的分化受损。在人类中，该蛋白质已被证明与磷酸酶 laforin 和泛素连接酶 malin 相互作用，后者调节细胞质中的糖原构建。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 2 月]

This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the Phosphatase laforin and the ubiquitin Ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

PRDM8 基因产物(2)

mRNA Protein Name
NM_001099403.2 NP_001092873.1 PR domain zinc finger protein 8
NM_020226.4 NP_064611.3 PR domain zinc finger protein 8
基因本体论
  • 分子功能
  • 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
22961547 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
22961547 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
蛋白主名 其他名称

PR domain zinc finger protein 8

PR domain 8

关联疾病

疾病名称 别名
Epilepsy, Progressive Myoclonic, 10

EPM10

Epilepsy, Progressive Myoclonic 10

Early-Onset Lafora Body Disease
Progressive Myoclonus Epilepsy 10

Early-Onset Lafora Body Disease

Epm10
Progressive Myoclonus Epilepsy 6

Progressive Myoclonic Epilepsy Type 6

Epm6

Gosr2-Related Progressive Myoclonus Ataxia

North Sea Progressive Myoclonus Epilepsy

Pme Type 6

Progressive Myoclonus Epilepsy Type 6

Epilepsy, Progressive Myoclonic, 6
Progressive Myoclonus Epilepsy 1a

Epm1a
Progressive Myoclonus Epilepsy 1b

Epm1b
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
Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease

Epm1

Myoclonic Epilepsy Of Unverricht And Lundborg

Myoclonus Progressive Epilepsy Of Unverricht And Lundborg

Unverricht - Lundborg Disease

Unverricht'S Disease

Epilepsy, Progressive Myoclonic Type 1

Epilepsy, Progressive Myoclonus 1

Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy

Baltic Myoclonic Epilepsy

Baltic Myoclonus

Baltic Myoclonus Epilepsy

Lundborg-Unverricht Syndrome

Mediterranean Myoclonic Epilepsy

Pme

Progressive Myoclonic Epilepsy

Progressive Myoclonus Epilepsy 1

Uld

Myoclonic Epilepsies, Progressive
Progressive Myoclonus Epilepsy 4

Action Myoclonus-Renal Failure Syndrome

Amrf

Epm4

Myoclonus-Nephropathy Syndrome
Myoclonic Epilepsy Of Lafora

Lafora Disease

Epilepsy, Progressive Myoclonic 2b

EPM2

Melf

Epilepsy, Progressive Myoclonic 2a

Epm2a

Lafora'S Disease

Lafora Body Disease

Lbd

Epilepsy, Progressive Myoclonic, 2a

Lafora Progressive Myoclonic Epilepsy

Epilepsy Progressive Myoclonic 2

Lafora Body Disorder

Pme Type 2

Progressive Myoclonic Epilepsy Type 2

Progressive Myoclonus Epilepsy Type 2

Epilepsy, Progressive Myoclonic 2

Epm2b

Ld

Progressive Myoclonic Epilepsy 2

Progressive Myoclonic Epilepsy 2a

Progressive Myoclonic Epilepsy 2b

Progressive Myoclonic Epilepsy Lafora Type

Epilepsy, Myoclonic, Of Lafora
Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome
Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers
Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital
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-RS11072 PRDM8 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22741 Prdm8 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS29255 Prdm8 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus PRDM8 MGD MGI:1924880
Felis catus PRDM8 VGNC VGNC:107431
Macaca mulatta PRDM8 VGNC VGNC:76249
Rattus norvegicus PRDM8 RGD RGD:1311628
Canis familiaris PRDM8 VGNC VGNC:57409
Bos taurus PRDM8 VGNC VGNC:53772
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