DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJC30provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member C30provided by HGNC
Primary source: HGNC:HGNC:16410
See related: Ensembl:ENSG00000176410 MIM:618202; AllianceGenome:HGNC:16410
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: LHONAR; LHONAR1; MC1DN38; WBSCR18
Summary: This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (73680918..73683453, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (74881833..74884368, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (73095248..73097783, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.
Title: DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.
Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.
Title: Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
Title: Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
Title: DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Title: Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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

Associated conditions

Description	Tests
Leber-like hereditary optic neuropathy, autosomal recessive 1 MedGen: CN376811 OMIM: 619382 GeneReviews: Not available	Compare labs

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

D8S2279 (e-PCR)
- UniSTS:473907

RH36134 (e-PCR)
- UniSTS:37192

G59668 (e-PCR)
- UniSTS:136822

WBSCR18__5080 (e-PCR)
- UniSTS:466555

SHGC-56098 (e-PCR)
- UniSTS:82085

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in brain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitochondrial ATP synthesis coupled proton transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dnaJ homolog subfamily C member 30, mitochondrial

Names: DnaJ (Hsp40) homolog, subfamily C, member 30; Williams Beuren syndrome chromosome region 18; williams-Beuren syndrome chromosomal region 18 protein

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.