1. Gene
  2. DNAJC19 - DnaJ heat shock protein family (Hsp40) member C19 Gene

DNAJC19 - DnaJ heat shock protein family (Hsp40) member C19 Gene

Homo sapiens

Also known as PAM18; TIM14; TIMM14

Gene ID: 131118 | Gene type: protein coding

About DNAJC19

Cytogenetic location: 3q26.33 Genomic coordinates (GRCh38): 3:180,983,709-180,989,838 (from NCBI)

This gene has 12 transcripts (splice variants), 230 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 18.0), adrenal (RPKM 14.8) and 25 other tissues.

Summary

The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]

DNAJC19 Products(2)

mRNA Protein Name
NM_001190233.2 NP_001177162.1 mitochondrial import inner membrane translocase subunit TIM14 isoform 2
NM_145261.4 NP_660304.1 mitochondrial import inner membrane translocase subunit TIM14 isoform 1

DNAJC19 Protein Structure

DnaJ

DnaJ: DnaJ domain (66 - 114)

  • 0
  • 100
  • 116 a.a.
Protein Preferred Names Protein Names

mitochondrial import inner membrane translocase subunit TIM14

DnaJ (Hsp40) homolog, subfamily C, member 19

Related Diseases

Diseases Alias
3-Methylglutaconic Aciduria, Type V

3-Methylglutaconic Aciduria Type 5

Mga5

MGCA5

Dcma

Dcma Syndrome

Dilated Cardiomyopathy With Ataxia

3-Methylglutaconic Aciduria Type V

Mga Type V

Cardiomyopathy, Dilated, With Ataxia

Mga, Type V

Dilated Cardiomyopathy With Ataxia Syndrome

Dnajc19 Defect

3-Methylglutaconic Aciduria 5

3-Alpha-Methylglutaconic Aciduria Type 5

3-@Methylglutaconic Aciduria, Type V

3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria

3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome

Megdel Syndrome

MEGDEL

Mgca6

3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome

Megdhel

3-Methylglutaconic Aciduria, Type Vi

Serac1 Defect

3-Methylglutaconic Aciduria Type 6

3-Mgca Type Iv

3-Mgca-4

3-Methylglutaconic Aciduria Type Vi

3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome

Megdhel Syndrome

3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome

3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome

3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome

3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome

Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

SMDMDM

Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type

Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type

Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type

Chondrodysplasia, Megarbane-Dagher-Melki Type

Megarbane-Dagher-Melike Type Chondrodysplasia

Chondrodysplasia, Megarbane-Dagher-Melike Type

Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type

Deafness, Dystonia, And Cerebral Hypomyelination

Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome

DDCH

Cadds

Severe Motor And Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome

Contiguous Abcd1 Dxs1357e Deletion Syndrome

Zellweger-Like Contiguous Gene Deletion Syndrome

Contiguous Abcd1/Dxs1375e Deletion Syndrome

Deafness, Dystonia, Cerebral Hypomyelination

Contiguous Abcd1-Dxs1375e Deletion Syndrome

Sengers Syndrome

Mitochondrial Dna Depletion Syndrome 10

Cardiomyopathy And Cataract

Cataract And Cardiomyopathy

MTDPS10

Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome

Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10

Senger Syndrome

Combined Oxidative Phosphorylation Deficiency 31

Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome

COXPD31

3-Methylglutaconic Aciduria, Type I

3-Methylglutaconyl-Coa Hydratase Deficiency

3-Methylglutaconic Aciduria Type 1

Mga1

MGCA1

3mg-Coa Hydratase Deficiency

Mga Type I

Mga, Type I

3-Mg-Coa-Hydratase Deficiency

3 Methylglutaconyl Coa Hydratase Deficiency

3-Methylglutaconic Aciduria Type I

3 Alpha Methylglutaconic Aciduria Type I

3 Methylglutaconic Aciduria Type 1

3-Mgca Type I

3mg Coa Hydratase Deficiency

Auh Defect

Primary 3-Methylglutaconic Aciduria

3-Methylglutaconic Aciduria 1

3-Alpha-Methylglutaconic Aciduria Type 1

3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency

3-@Methylglutaconic Aciduria, Type I

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Mohr-Tranebjaerg Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome

Jensen Syndrome

Deafness Dystonia Syndrome

MTS

Dds

Deafness-Dystonia-Optic Atrophy Syndrome

Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency

Opticoacoustic Nerve Atrophy With Dementia

Dystonia-Deafness Syndrome

Ddp

Ddon Syndrome

Mohr-Tranebjærg Syndrome

Deafness Dystonia Optic Atrophy Syndrome

Deafness Dystonia Optic Neuronopathy Syndrome

Dystonia Deafness Syndrome

Ddon

Deafness - Dystonia - Optic Neuronopathy Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome

Hearing Loss-Dystonia-Optic Neuronopathy Syndrome

Dfn-1

X-Linked Progressive Deafness Type 1

Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

Combined Oxidative Phosphorylation Deficiency 4

COXPD4

Combined Oxidative Phosphorylation Defect Type 4

Combined Oxidative Phosphorylation Deficiency, Type 4

Organic Acidemia

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic

3-Methylglutaconic Aciduria, Type Iv

3-Methylglutaconic Aciduria Type 4

Mga4

MGCA4

3-Methylglutaconic Aciduria Type Iv

Mga, Type Iv

Mga Type Iv

Not Otherwise Specified 3-Mga-Uria Type

3 Alpha Methylglutaconic Aciduria Type Iv

3 Methylglutaconic Aciduria Type Iv

Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h

Dilated Cardiomyopathy With Conduction Defect

CMD1H

Cardiomyopathy, Dilated, With Conduction Defect

Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome

Charcot-Marie-Tooth Disease X-Linked Recessive 4

Cmt4x

Cmtx4

Cowchock Syndrome

X-Linked Charcot-Marie-Tooth Disease Type 4

Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation

Charcot-Marie-Tooth Disease With Deafness And Mental Retardation

Nadmr

Namsd

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DNAJC19 RGD RGD:1560220
Canis familiaris DNAJC19 VGNC VGNC:53460
Macaca mulatta DNAJC19 VGNC VGNC:84190
Mus musculus DNAJC19 MGD MGI:1914963