DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJC2provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member C2provided by HGNC
Primary source: HGNC:HGNC:13192
See related: Ensembl:ENSG00000105821 MIM:605502; AllianceGenome:HGNC:13192
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ZRF1; ZUO1; MPP11; MPHOSPH11
Summary: This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 19.0), testis (RPKM 17.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (103312289..103344767, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (104626740..104659211, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (102952736..102985214, complement)

Chromosome 7 - NC_000007.14 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
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?

p113 isoform encoded by CUX1 circular RNA drives tumor progression via facilitating ZRF1/BRD4 transactivation.
Title: p113 isoform encoded by CUX1 circular RNA drives tumor progression via facilitating ZRF1/BRD4 transactivation.
DNAJC2 is reversely regulated by miR6273p, promoting the proliferation of colorectal cancer.
Title: DNAJC2 is reversely regulated by miR‑627‑3p, promoting the proliferation of colorectal cancer.
These findings suggest that ZRF1 plays a crucial role in tumor malignant potential through its overexpression and highlight its usefulness as a prognostic factor and potential therapeutic target in gastric cancer
Title: Overexpression of ZRF1 is related to tumor malignant potential and a poor outcome of gastric carcinoma.
Unexplored functions of ZRF1-mediated remodeling in replication and double strand break repair are discussed.
Title: On-site remodeling at chromatin: How multiprotein complexes are rebuilt during DNA repair and transcriptional activation.
In response to UV irradiation, DICER is recruited to chromatin in a ZRF1-mediated manner. The H2A-ubiquitin binding protein ZRF1 and DICER together impact on the chromatin conformation via PARP1.
Title: DICER and ZRF1 contribute to chromatin decondensation during nucleotide excision repair.
ZRF1 mediates remodeling of this E3 ligase complex directly at the DNA lesion site.
Title: ZRF1 mediates remodeling of E3 ligases at DNA lesion sites during nucleotide excision repair.
The antibody response to ZRF1 was higher in sera of patients with invasive ductal carcinoma than in sera of patients with other histological types of breast tumors.
Title: Autoantibody Response to ZRF1 and KRR1 SEREX Antigens in Patients with Breast Tumors of Different Histological Types and Grades.
Zrf1 is transcriptional regulator of neural fate downstream of Id1 in embryonic stem cells.During embryonic stem cell differentiation, Id1 levels decrease allowing Zrf1 to activate neural genes.
Title: Direct interaction between Id1 and Zrf1 controls neural differentiation of embryonic stem cells.
our data reveal that ZRF1 is a key transcriptional regulator in leukemia progression
Title: ZRF1 controls the retinoic acid pathway and regulates leukemogenic potential in acute myeloid leukemia.
Zrf1 plays an essential role in neural progenitor cell generation and maintenance
Title: Zrf1 is required to establish and maintain neural progenitor identity.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

MARC_17457-17458:1023121715:1 (e-PCR)
- UniSTS:268304

STS-W90638 (e-PCR)
- UniSTS:20766

D8S2279 (e-PCR)
- UniSTS:473907

G67883 (e-PCR)
- UniSTS:225616

SGC32790 (e-PCR)
- UniSTS:78435

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

RH71304 (e-PCR)
- UniSTS:47597

WI-14926 (e-PCR)
- UniSTS:59631

RH103967 (e-PCR)
- UniSTS:98292

SHGC-54619 (e-PCR)
- UniSTS:9979

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase activator activity	TAS Traceable Author Statement more info
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
enables RNA binding	HDA more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables histone binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribosome binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-modified histone reader activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in 'de novo' cotranslational protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in 'de novo' cotranslational protein folding	TAS Traceable Author Statement more info	PubMed
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cellular response to heat	TAS Traceable Author Statement more info
involved_in regulation of translational fidelity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dnaJ homolog subfamily C member 2

Names: DnaJ (Hsp40) homolog, subfamily C, member 2; M-phase phosphoprotein 11; zuotin-related factor 1

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_001129887.3 → NP_001123359.1 dnaJ homolog subfamily C member 2 isoform 2

See identical proteins and their annotated locations for NP_001123359.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC004668, AI140595, X98260

Consensus CDS

CCDS47679.1

UniProtKB/Swiss-Prot

Q99543

Related

ENSP00000249270.7, ENST00000249270.11

Conserved Domains (4) summary

smart00717
Location:498 → 549

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

COG5269
Location:75 → 361

ZUO1; Ribosome-associated chaperone zuotin [Translation, ribosomal structure and biogenesis / Posttranslational modification, protein turnover, chaperones]

cd00167
Location:500 → 547

SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

pfam00226
Location:88 → 158

DnaJ; DnaJ domain
NM_001362667.2 → NP_001349596.1 dnaJ homolog subfamily C member 2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in its 5' UTR, resulting in the use of a downstream start codon relative to variant 1. The encoded protein (isoform 3) has a shorter N-terminus than isoform 1.

Source sequence(s)

AI140595, BC000859, BC056682, BX279826, DA691752

Conserved Domains (3) summary

COG5269
Location:1 → 294

ZUO1; Ribosome-associated chaperone zuotin [Translation, ribosomal structure and biogenesis / Posttranslational modification, protein turnover, chaperones]

cd00167
Location:479 → 526

SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

pfam16717
Location:270 → 346

RAC_head; Ribosome-associated complex head domain
NM_001362668.2 → NP_001349597.1 dnaJ homolog subfamily C member 2 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate exon in its 5' UTR, resulting in the use of a downstream start codon relative to variant 1. The encoded protein (isoform 3) has a shorter N-terminus than isoform 1.

Source sequence(s)

AI140595, BC000859, BC056682, BX279826, DA691752

Conserved Domains (3) summary

cd00167
Location:407 → 454

SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

pfam16717
Location:198 → 274

RAC_head; Ribosome-associated complex head domain

cl28246
Location:1 → 222

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_014377.3 → NP_055192.1 dnaJ homolog subfamily C member 2 isoform 1

See identical proteins and their annotated locations for NP_055192.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AI140595, AI621015, BC000859, BC012376, DA272314, DA691752, X98260

Consensus CDS

CCDS43628.1

UniProtKB/Swiss-Prot

A4VCI0, Q99543, Q9BVX1

Related

ENSP00000368565.3, ENST00000379263.8

Conserved Domains (5) summary

smart00717
Location:551 → 602

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

COG5269
Location:75 → 368

ZUO1; Ribosome-associated chaperone zuotin [Translation, ribosomal structure and biogenesis / Posttranslational modification, protein turnover, chaperones]

cd00167
Location:553 → 600

SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

pfam00226
Location:88 → 158

DnaJ; DnaJ domain

pfam16717
Location:349 → 420

RAC_head; Ribosome-associated complex head 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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

103312289..103344767 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516030.3 → XP_011514332.1 dnaJ homolog subfamily C member 2 isoform X1

Conserved Domains (3) summary

COG5269
Location:2 → 165

ZUO1; Ribosome-associated chaperone zuotin [Translation, ribosomal structure and biogenesis / Posttranslational modification, protein turnover, chaperones]

cd00167
Location:350 → 397

SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

pfam16717
Location:141 → 217

RAC_head; Ribosome-associated complex head domain
XM_047420191.1 → XP_047276147.1 dnaJ homolog subfamily C member 2 isoform X1