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

Homo sapiens

Also known as JDP1; HPANBH4

Gene ID: 56521 | Gene type: protein coding

About 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.

Summary

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 Products(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

DNAJC12 Protein Structure

DnaJ

0
100
198 a.a.

Protein Preferred Names

Protein Names

dnaJ homolog subfamily C member 12

DnaJ (Hsp40) homolog, subfamily C, member 12

Related Diseases

Diseases

Alias

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]

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03875	DNAJC12 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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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