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DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 [ Homo sapiens (human) ]

Gene ID: 3338, updated on 3-Apr-2024

Summary

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Official Symbol
DNAJC4provided by HGNC
Official Full Name
DnaJ heat shock protein family (Hsp40) member C4provided by HGNC
Primary source
HGNC:HGNC:5271
See related
Ensembl:ENSG00000110011 MIM:604189; AllianceGenome:HGNC:5271
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSPF2; MCG18; DANJC4
Summary
Predicted to be involved in response to unfolded protein. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 43.6), spleen (RPKM 17.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11q13.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64230432..64234281)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64220128..64224226)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (63997904..64001753)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene FERM domain containing kindlin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63992564-63993286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63993887-63994406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63994407-63994924 Neighboring gene tRNA phosphotransferase 1 Neighboring gene uncharacterized LOC124902687 Neighboring gene nudix hydrolase 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3467 Neighboring gene vascular endothelial growth factor B Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64007574-64008476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64008477-64009377 Neighboring gene Uncharacterized protein LOC114841035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64010280-64011180 Neighboring gene FKBP prolyl isomerase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Characterisation of a new human and murine member of the DnaJ family of proteins. Silins G, et al. Biochem Biophys Res Commun, 1998 Feb 4. PMID 9473517
  2. Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature. Ohtsuka K, et al. Cell Stress Chaperones, 2000 Apr. PMID 11147971, Free PMC Article
  3. Regulation of epidermal growth factor receptor trafficking by lysine deacetylase HDAC6. Deribe YL, et al. Sci Signal, 2009 Dec 22. PMID 20029029
  4. Huntingtin interacting proteins are genetic modifiers of neurodegeneration. Kaltenbach LS, et al. PLoS Genet, 2007 May 11. PMID 17500595, Free PMC Article
  5. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC19482, MGC57189, MGC71863

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables unfolded protein binding NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein folding NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in response to unfolded protein TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
dnaJ homolog subfamily C member 4
Names
DnaJ (Hsp40) homolog, subfamily C, member 4
dnaJ-like protein HSPF2
heat shock 40kD protein 2
multiple endocrine neoplasia type 1 candidate protein number 18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001307980.1 → NP_001294909.1  dnaJ homolog subfamily C member 4 isoform 1

    See identical proteins and their annotated locations for NP_001294909.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF036874, AP001453, BC032137, BC044584
    Consensus CDS
    CCDS76424.1
    UniProtKB/TrEMBL
    J3KNJ8, Q86VG4
    Related
    ENSP00000320548.5, ENST00000321460.5
    Conserved Domains (1) summary
    pfam00226
    Location:34 → 96
    DnaJ; DnaJ domain

  2. NM_001307981.1 → NP_001294910.1  dnaJ homolog subfamily C member 4 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at an internal exon. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AP001453, BC044584, BC051008
    UniProtKB/TrEMBL
    Q86VG4
    Conserved Domains (1) summary
    pfam00226
    Location:34 → 96
    DnaJ; DnaJ domain

  3. NM_005528.4 → NP_005519.2  dnaJ homolog subfamily C member 4 isoform 3

    See identical proteins and their annotated locations for NP_005519.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' and 3' UTRs and uses alternate splice sites in the 3' coding region, resulting in a frameshift and novel 3' coding region compared to variant 1. It encodes isoform 3, which is shorter than and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC053947
    Consensus CDS
    CCDS41666.1
    UniProtKB/Swiss-Prot
    O14716, Q9NNZ3
    Related
    ENSP00000486499.2, ENST00000628077.3
    Conserved Domains (1) summary
    pfam00226
    Location:34 → 96
    DnaJ; DnaJ domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    64230432..64234281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426865.1 → XP_047282821.1  dnaJ homolog subfamily C member 4 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    64220128..64224226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368615.1 → XP_054224590.1  dnaJ homolog subfamily C member 4 isoform X2

  2. XM_054368617.1 → XP_054224592.1  dnaJ homolog subfamily C member 4 isoform X3

    UniProtKB/Swiss-Prot
    O14716, Q9NNZ3

  3. XM_054368616.1 → XP_054224591.1  dnaJ homolog subfamily C member 4 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NNZ3.1 GenPept UniProtKB/Swiss-Prot:Q9NNZ3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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