2. Gene
  3. DNAJC12 - DnaJ heat shock protein family (Hsp40) member C12 Gene

DNAJC12 - DnaJ heat shock protein family (Hsp40) member C12 Gene

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

中文名称：DnaJ 热休克蛋白家族 (Hsp40) 成员 C12

种属: Homo sapiens

同用名: JDP1; HPANBH4

基因 ID: 56521 | 基因类型: protein coding

关于 DNAJC12

Cytogenetic location: 10q21.3 Genomic coordinates (GRCh38): 10:67,796,669-67,838,188 (from NCBI)

This gene has 5 transcripts (splice variants), 214 orthologues, 20 paralogues and is associated with 3 phenotypes. Broad expression in adrenal (RPKM 18.5), liver (RPKM 12.0) and 15 other tissues.

功能概要

该基因编码 HSP40/DnaJ 蛋白家族的一个子类成员。这个蛋白质家族的成员与复杂的组装、蛋白质折叠和输出有关。已经为该基因鉴定了编码不同亚型的两个转录物变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

DNAJC12 基因产物(2)

mRNA Protein Name
NM_021800.3 NP_068572.1 dnaJ homolog subfamily C member 12 isoform a
NM_201262.2 NP_957714.1 dnaJ homolog subfamily C member 12 isoform b
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
24122553 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
24122553 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

DNAJC12 蛋白结构

DnaJ

DnaJ: DnaJ domain (14 - 76)

  • 0
  • 100
  • 198 a.a.
蛋白主名 其他名称

dnaJ homolog subfamily C member 12

DnaJ (Hsp40) homolog, subfamily C, member 12

DNAJC12 抗体

目录号 产品名 应用 反应物种
HY-P83125 DNAJC12 Antibody (YA2870) WB Human

关联疾病

疾病名称 别名
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Hyperphenylalaninemia Due To Dnajc12 Deficiency

HPANBH4

Non-Phenylketonuric Non-Bh4-Deficiency Hyperphenylalaninemia
Hyperphenylalaninemia

Hyperphenylalaninaemia
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency

Sepiapterin Reductase Deficiency

Spr Deficiency

Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency

Srd

Drd Due To Srd

Dopa-Responsive Hypersomnia

Dyt-Spr

Dyt/Park-Spr

Sr-Deficient Drd

Autosomal Recessive Sepiapterin Reductase-Deficient Drd

Spr

DRDSPRD

Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency

Psychomotor Disorders
Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Pts Deficiency

HPABH4A

Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency

Ptsd

Bh4-Deficient Hyperphenylalaninemia A

Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency

Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency

Hyperphenylalanemia, Bh4-Deficient, A

Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

6-Pyruvoyltetrahydropterin Synthase Deficiency

Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency

Ptpsd

Hyperphenylalaninemia, Bh4-Deficient, Type A
Brunner Syndrome

Monoamine Oxidase A Deficiency

Antisocial Behavior

BRNRS

Deficiency Of Monoamine Oxidase A

X-Linked Monoamine Oxidase Deficiency

Susceptibility To Antisocial Behavior

Antisocial Behavior, Susceptibility To

Anti-Social Behavior
Hypoinsulinemic Hypoglycemia With Hemihypertrophy

Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy

HIHGHH
Dopamine Beta-Hydroxylase Deficiency

Noradrenaline Deficiency

Norepinephrine Deficiency

Dopamine Beta Hydroxylase Deficiency

Congenital Dopamine Beta-Hydroxylase Deficiency

Dopamine Beta-Hydroxylase Deficiency, Congenital

Dopamine Β-Hydroxylase

Dbh Deficiency
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Aromatic L-Amino Acid Decarboxylase Deficiency

Aadc Deficiency

Dopa Decarboxylase Deficiency

Ddc Deficiency

Aromatic Amino Acid Decarboxylase Deficiency

Deficiency Of Aromatic-L-Amino-Acid Decarboxylase

AADCD

Aromatic-L-Amino-Acid Decarboxylase Deficiency

Aromatic L-Amino-Acid Decarboxylase Deficiency
Phenylketonuria

Phenylalanine Hydroxylase Deficiency

PKU

Pah Deficiency

Folling Disease

Maternal Phenylketonuria

Phenylketonurias

Oligophrenia Phenylpyruvica

Hyperphenylalaninemia, Non-Pku Mild

Folling'S Disease

Phenylalaninemia

Mild Phenylketonuria

Mild Pku

Variant Pku

Variant Phenylketonuria

Mpku

Deficiency Disease, Phenylalanine Hydroxylase

Phenylketonuria, Maternal

Phenylalanine Hydroxylase Deficiency Disease

Hyperphenylalaninemic Embryopathy

Maternal Pku

Maternal Hyperphenylalaninemia

Phenylketonuric Embryopathy

Hyperphenylalaninemia

HPA

Non-Phenylketonuria Hyperphenylalaninemia

NON-PKU HPA

Phenylketonuria Maternal

Classical Phenylketonuria

Hyperphenylalaninaemia

Pku - [Phenylketonuria]
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-RS03875 DNAJC12 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus DNAJC12 RGD RGD:1591898
Macaca mulatta DNAJC12 VGNC VGNC:106034
Mus musculus DNAJC12 MGD MGI:1353428
Bos taurus DNAJC12 VGNC VGNC:55984
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