DNAJB12 DnaJ heat shock protein family (Hsp40) member B12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJB12provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member B12provided by HGNC
Primary source: HGNC:HGNC:14891
See related: Ensembl:ENSG00000148719 MIM:608376; AllianceGenome:HGNC:14891
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: DJ10
Summary: DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in testis (RPKM 9.5), kidney (RPKM 9.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (72332863..72354919, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (73203895..73225949, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (74092621..74114677, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNAJB12 and DNJB14 are non-redundant Hsp40 redox chaperones involved in endoplasmic reticulum protein reflux.
Title: DNAJB12 and DNJB14 are non-redundant Hsp40 redox chaperones involved in endoplasmic reticulum protein reflux.
ER-located J-protein chaperones were identified as key regulators for the iogenesis and physiological function of ERG K+ channels. They regulate two distinct aspects of K+ channel biogenesis, the stabilization and assembly of channel subunits.
Title: Tetrameric Assembly of K(+) Channels Requires ER-Located Chaperone Proteins.
Data suggest that endoplasmic reticulum (ER) stress-induced apoptosis in hepatoma cells is regulated by highly labile and ER-associated BCL-2 family member BOK, which is controlled at level of protein stability by ER-associated degradation components; DNAJB12 is required in hepatoma cells to maintain BOK at low levels and suppress ER stress. (DNAJB12 = DnaJ (Hsp40) homolog, subfamily B, member 12)
Title: Endoplasmic reticulum stress-induced degradation of DNAJB12 stimulates BOK accumulation and primes cancer cells for apoptosis.
Over-expression of DNAJB12 or DNAJB14 causes the formation of elaborate membranous structures within cell nuclei, designated DJANGOS for DNAJ-associated nuclear globular structures.
Title: Expression of DNAJB12 or DNAJB14 causes coordinate invasion of the nucleus by membranes associated with a novel nuclear pore structure.
JB12 cooperates with cytosolic Hsc70 and the ubiquitin ligase RMA1 to target CFTR and CFTRDeltaF508 for degradation.
Title: The endoplasmic reticulum-associated Hsp40 DNAJB12 and Hsc70 cooperate to facilitate RMA1 E3-dependent degradation of nascent CFTRDeltaF508.
DNAJB12 is a novel mammalian ER-localized J-protein that plays a vital role in the quality control of membrane proteins
Title: A novel ER J-protein DNAJB12 accelerates ER-associated degradation of membrane proteins including CFTR.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A002G40 (e-PCR)
- UniSTS:29740

RH44259 (e-PCR)
- UniSTS:29370

DNAJB12_8056 (e-PCR)
- UniSTS:467653

RH99109 (e-PCR)
- UniSTS:91894

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Hsp70 protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Hsp70 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to misfolded protein	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to misfolded protein	IDA Inferred from Direct Assay more info	PubMed
involved_in chaperone cofactor-dependent protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in chaperone cofactor-dependent protein refolding	IDA Inferred from Direct Assay more info	PubMed
involved_in protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: dnaJ homolog subfamily B member 12

Names: DnaJ (Hsp40) homolog, subfamily B, member 12

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)

NM_001002762.5 → NP_001002762.3 dnaJ homolog subfamily B member 12 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1, 2 and 4 encode the same protein.

Source sequence(s)

AC091769, AL833358, BC011812, BC064920, DC397260

Consensus CDS

CCDS7316.3

UniProtKB/Swiss-Prot

B7Z7I3, Q9H6H0, Q9NXW2

UniProtKB/TrEMBL

J3KPS0

Related

ENSP00000345575.3, ENST00000338820.7

Conserved Domains (2) summary

pfam09320
Location:268 → 368

DUF1977; Domain of unknown function (DUF1977)

cl28246
Location:110 → 236

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_001365080.3 → NP_001352009.1 dnaJ homolog subfamily B member 12 isoform 2

Status: VALIDATED

Source sequence(s)

AC091769

UniProtKB/TrEMBL

J3KPS0

Conserved Domains (2) summary

pfam09320
Location:268 → 368

DUF1977; Domain of unknown function (DUF1977)

cl28246
Location:110 → 236

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_001365081.3 → NP_001352010.1 dnaJ homolog subfamily B member 12 isoform 1

Status: VALIDATED

Source sequence(s)

AC091769

Consensus CDS

CCDS7316.3

UniProtKB/Swiss-Prot

B7Z7I3, Q9H6H0, Q9NXW2

UniProtKB/TrEMBL

J3KPS0

Conserved Domains (2) summary

pfam09320
Location:268 → 368

DUF1977; Domain of unknown function (DUF1977)

cl28246
Location:110 → 236

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_017626.7 → NP_060096.4 dnaJ homolog subfamily B member 12 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1, 2 and 4 encode the same protein.

Source sequence(s)

AL833358, BC064920, DC397260

Consensus CDS

CCDS7316.3

UniProtKB/Swiss-Prot

B7Z7I3, Q9H6H0, Q9NXW2

UniProtKB/TrEMBL

J3KPS0

Related

ENSP00000403313.2, ENST00000444643.8

Conserved Domains (2) summary

pfam09320
Location:268 → 368

DUF1977; Domain of unknown function (DUF1977)

cl28246
Location:110 → 236

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]