DNAJC21 Chromosome 5

DnaJ heat shock protein family (Hsp40) member C21

53 variants 53 Health Risk

Upload your DNA to see your personal genotypes for variants in DNAJC21.

What This Gene Does

This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]

Gene Info

Gene Group

"Zinc fingers C2H2-type|Zinc fingers matrin-type|DNAJ (HSP40) heat shock proteins"

Locus Type

gene with protein product

Location

5p13.2

Ensembl

ENSG00000168724

Associated Conditions (10)

DNAJC21-related disorder

Inborn genetic diseases

Bone marrow failure syndrome 3

Shwachman-Diamond syndrome 1

Familial cancer of breast

Familial pancreatic carcinoma

Lung cancer

Inherited bone marrow failure syndrome

Acute myeloid leukemia

Cervical cancer

Key Variants

RS115834468

Conflicting classifications of pathogenicity

Health Risk

RS139629564

Conflicting classifications of pathogenicity

Inborn genetic diseases, DNAJC21-related disorder, Inborn genetic diseases

Health Risk

RS142389949

Conflicting classifications of pathogenicity

Bone marrow failure syndrome 3, Shwachman-Diamond syndrome 1, Inborn genetic diseases

Health Risk

RS144046917

Conflicting classifications of pathogenicity

Health Risk

RS144600070

Conflicting classifications of pathogenicity

Bone marrow failure syndrome 3, DNAJC21-related disorder, Bone marrow failure syndrome 3

Health Risk

RS146564466

Conflicting classifications of pathogenicity

Health Risk

RS148374246

Conflicting classifications of pathogenicity

Bone marrow failure syndrome 3, Inborn genetic diseases, Bone marrow failure syndrome 3

Health Risk

RS182094106

Conflicting classifications of pathogenicity

Familial pancreatic carcinoma, Lung cancer, Familial pancreatic carcinoma

Health Risk

RS2112094320

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS368399096

Conflicting classifications of pathogenicity

Bone marrow failure syndrome 3, DNAJC21-related disorder, Bone marrow failure syndrome 3

Health Risk

RS371751945

Conflicting classifications of pathogenicity

Health Risk

RS540408227

Conflicting classifications of pathogenicity

Health Risk

All Variants (53)

RSID	Category	Clinical Significance	Conditions
RS115834468	Health Risk	Conflicting classifications of pathogenicity	DNAJC21-related disorder, DNAJC21-related disorder
RS139629564	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, DNAJC21-related disorder, Inborn genetic diseases
RS142389949	Health Risk	Conflicting classifications of pathogenicity	Bone marrow failure syndrome 3, Shwachman-Diamond syndrome 1, Inborn genetic diseases
RS144046917	Health Risk	Conflicting classifications of pathogenicity	DNAJC21-related disorder, Familial cancer of breast, DNAJC21-related disorder
RS144600070	Health Risk	Conflicting classifications of pathogenicity	Bone marrow failure syndrome 3, DNAJC21-related disorder, Bone marrow failure syndrome 3
RS146564466	Health Risk	Conflicting classifications of pathogenicity	DNAJC21-related disorder, Inborn genetic diseases, DNAJC21-related disorder
RS148374246	Health Risk	Conflicting classifications of pathogenicity	Bone marrow failure syndrome 3, Inborn genetic diseases, Bone marrow failure syndrome 3
RS182094106	Health Risk	Conflicting classifications of pathogenicity	Familial pancreatic carcinoma, Lung cancer, Familial pancreatic carcinoma
RS2112094320	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS368399096	Health Risk	Conflicting classifications of pathogenicity	Bone marrow failure syndrome 3, DNAJC21-related disorder, Bone marrow failure syndrome 3
RS371751945	Health Risk	Conflicting classifications of pathogenicity	—
RS540408227	Health Risk	Conflicting classifications of pathogenicity	DNAJC21-related disorder, Inborn genetic diseases, DNAJC21-related disorder
RS541503410	Health Risk	Conflicting classifications of pathogenicity	—
RS758909394	Health Risk	Conflicting classifications of pathogenicity	DNAJC21-related disorder, Bone marrow failure syndrome 3, DNAJC21-related disorder
RS888250694	Health Risk	Conflicting classifications of pathogenicity	—
RS1362830842	Health Risk	Likely pathogenic	—
RS1764526690	Health Risk	Likely pathogenic	—
RS1764812018	Health Risk	Likely pathogenic	—
RS1764893772	Health Risk	Likely pathogenic	DNAJC21-related disorder, DNAJC21-related disorder
RS2480589765	Health Risk	Likely pathogenic	Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS2480631479	Health Risk	Likely pathogenic	Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS368148362	Health Risk	Likely pathogenic	Inherited bone marrow failure syndrome, Bone marrow failure syndrome 3, Shwachman-Diamond syndrome 1
RS376653237	Health Risk	Likely pathogenic	—
RS771409328	Health Risk	Likely pathogenic	—
RS1208669621	Health Risk	Pathogenic	—
RS1396292043	Health Risk	Pathogenic	—
RS1420750905	Health Risk	Pathogenic	—
RS150576702	Health Risk	Pathogenic	Inherited bone marrow failure syndrome, Bone marrow failure syndrome 3, Inherited bone marrow failure syndrome
RS1561180439	Health Risk	Pathogenic	Bone marrow failure syndrome 3, Inborn genetic diseases, Bone marrow failure syndrome 3
RS1561183139	Health Risk	Pathogenic	Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS1580531090	Health Risk	Pathogenic	Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS1764767232	Health Risk	Pathogenic	—
RS1764773836	Health Risk	Pathogenic	—
RS1764826248	Health Risk	Pathogenic	—
RS1765124377	Health Risk	Pathogenic	—
RS1765158546	Health Risk	Pathogenic	—
RS2112024354	Health Risk	Pathogenic	Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS2112039335	Health Risk	Pathogenic	Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS2480590275	Health Risk	Pathogenic	Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS2480597949	Health Risk	Pathogenic	—
RS2480599117	Health Risk	Pathogenic	—
RS556917839	Health Risk	Pathogenic	Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS745759931	Health Risk	Pathogenic	—
RS761105777	Health Risk	Pathogenic	—
RS764382519	Health Risk	Pathogenic	—
RS765411726	Health Risk	Pathogenic	Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS767907460	Health Risk	Pathogenic	—
RS770282904	Health Risk	Pathogenic	Inherited bone marrow failure syndrome, Bone marrow failure syndrome 3, Inherited bone marrow failure syndrome
RS774730633	Health Risk	Pathogenic	—
RS777941059	Health Risk	Pathogenic	—

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