DNAJC21 Chromosome 5
DnaJ heat shock protein family (Hsp40) member C21
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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
DNAJC21-related disorder, DNAJC21-related disorder
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
DNAJC21-related disorder, Familial cancer of breast, DNAJC21-related disorder
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
DNAJC21-related disorder, Inborn genetic diseases, DNAJC21-related disorder
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
DNAJC21-related disorder, Inborn genetic diseases, DNAJC21-related disorder
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS879253818 | Health Risk | Pathogenic | Bone marrow failure syndrome 3, Inherited bone marrow failure syndrome, Bone marrow failure syndrome 3 |
| RS1580526958 | Health Risk | Pathogenic/Likely pathogenic | Bone marrow failure syndrome 3, Bone marrow failure syndrome 3 |
| RS771063992 | Health Risk | Pathogenic/Likely pathogenic | DNAJC21-related disorder, Bone marrow failure syndrome 3, DNAJC21-related disorder |