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

Also Known as JDP1; HPANBH4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56521

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24122553	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	24122553	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

DNAJC12 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83125	DNAJC12 Antibody (YA2870)	WB	Human
HY-P83125A	DNAJC12 Antibody (YA2870)(PBS only)	WB	Human

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

Pre-clinical Phase

Bioactive Molecules (1)

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