Gene Gene information from NCBI Gene database.
Entrez ID 134218
Gene name DnaJ heat shock protein family (Hsp40) member C21
Gene symbol DNAJC21
Synonyms (NCBI Gene)
BMFS3DNAJA5GS3JJJ1
Chromosome 5
Chromosome location 5p13.2
Summary 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 i
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs150576702 C>T Pathogenic Coding sequence variant, stop gained
rs368148362 G>A,T Pathogenic, uncertain-significance Splice donor variant
rs770282904 G>C,T Pathogenic Coding sequence variant, stop gained, missense variant
rs771063992 C>T Pathogenic Coding sequence variant, stop gained
rs879253818 C>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
461
miRTarBase ID miRNA Experiments Reference
MIRT049403 hsa-miR-92a-3p CLASH 23622248
MIRT644829 hsa-miR-3133 HITS-CLIP 23824327
MIRT644828 hsa-miR-186-5p HITS-CLIP 23824327
MIRT644827 hsa-miR-500a-5p HITS-CLIP 23824327
MIRT644826 hsa-miR-8063 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 17500595, 20195357
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617048 27030 ENSG00000168724
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5F1R6
Protein name DnaJ homolog subfamily C member 21 (DnaJ homolog subfamily A member 5) (Protein GS3)
Protein function May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00226 DnaJ 3 66 DnaJ domain Domain
PF12171 zf-C2H2_jaz 313 339 Zinc-finger double-stranded RNA-binding Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, placenta, kidney and pancreas. {ECO:0000269|PubMed:15067379}.
Sequence
MKCHYEALGVRRDASEEELKKAYRKLALKWHPDKNLDNAAEAAEQFKLIQAAYDVLSDPQ
ERAWYD
NHREALLKGGFDGEYQDDSLDLLRYFTVTCYSGYGDDEKGFYTVYRNVFEMIAK
EELESVLEEEVDDFPTFGDSQSDYDTVVHPFYAYWQSFCTQKNFAWKEEYDTRQASNRWE
KRAMEKENKKIRDKARKEKNELVRQLVAFIRKRDKRVQAHRKLVEEQNAEKARKAEEMRR
QQKLKQAKLVEQYREQSWMTMANLEKELQEMEARYEKEFGDGSDENEMEEHELKDEEDGK
DSDEAEDAELYDDLYCPACDKSFKTEKAMKNHEKSKKHREMVALLKQQLEEEEENFSRPQ
IDENPLDDNSEEEMEDAPKQKLSKKQKKKKQKPAQNYDDNFNVNGPGEGVKVDPEDTNLN
QDSAKELEDSPQENVSVTEIIKPCDDPKSEAKSVPKPKGKKTKDMKKPVRVPAEPQTMSV
LISCTTCHSEFPSRNKLFDHLKATGHARAPSSSSLNSATSSQSKKEKRKNR
Sequence length 531
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
113
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely pathogenic; Pathogenic rs368148362 RCV005893796
Bone marrow failure syndrome 3 Pathogenic; Likely pathogenic rs765411726, rs2112024354, rs2112039335, rs556917839, rs2480631479, rs879253818, rs368148362, rs150576702, rs770282904, rs2480589765, rs2480590275, rs771063992, rs1561183139, rs1561180439, rs1580531090
View all (1 more)
RCV001329489
RCV001824280
RCV001824282
RCV002471182
RCV002283793
RCV000239470
RCV000784914
RCV000239500
RCV000239519
RCV000239558
RCV003337763
RCV003990712
RCV005400466
RCV000754769
RCV000754770
RCV000987508
RCV000995537
Cervical cancer Likely pathogenic; Pathogenic rs368148362 RCV005893797
DNAJC21-related disorder Likely pathogenic; Pathogenic rs1764893772, rs771063992 RCV003414422
RCV004754553
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs17244979 RCV005914498
Cholangiocarcinoma Benign rs17244979 RCV005909320
Colorectal cancer Benign rs17244979 RCV005909317
Familial cancer of breast Conflicting classifications of pathogenicity; Uncertain significance rs144046917, rs146933471 RCV005913146
RCV005910985
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 30755392
Bone Marrow Failure Disorders Associate 27346687, 37450374
Developmental Disabilities Associate 30755392
Immune System Diseases Associate 30755392
Leukemia Myeloid Acute Associate 27346687
Neoplasms Associate 27346687, 30755392, 37226705
Pigmentation Disorders Associate 19030707
Shwachman Diamond Syndrome Associate 38408162