DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJC18provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member C18provided by HGNC
Primary source: HGNC:HGNC:28429
See related: Ensembl:ENSG00000170464 AllianceGenome:HGNC:28429
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
Summary: Predicted to enable Hsp70 protein binding activity. Predicted to be involved in cellular response to misfolded protein and chaperone cofactor-dependent protein refolding. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in brain (RPKM 11.6), testis (RPKM 9.5) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (139410203..139439525, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (139936006..139965339, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (138745892..138775214, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic susceptibility to distinct bladder cancer subphenotypes.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

IB372 (e-PCR)
- UniSTS:66053

PMC156606P1 (e-PCR)
- UniSTS:271408

RH66310 (e-PCR)
- UniSTS:77678

T03718 (e-PCR)
- UniSTS:60529

D1S1423 (e-PCR)
- UniSTS:149619

RH48304 (e-PCR)
- UniSTS:75209

STS-T76997 (e-PCR)
- UniSTS:57556

IB2038 (e-PCR)
- UniSTS:64733

bac51556S (e-PCR)
- UniSTS:181482

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in cellular response to misfolded protein	IBA Inferred from Biological aspect of Ancestor more info
involved_in chaperone cofactor-dependent protein refolding	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
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

General protein information

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Preferred Names: dnaJ homolog subfamily C member 18

Names: DnaJ (Hsp40) homolog, subfamily C, member 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.