Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
134218
Gene name Gene Name - the full gene name approved by the HGNC.
DnaJ heat shock protein family (Hsp40) member C21
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAJC21
Synonyms (NCBI Gene) Gene synonyms aliases
BMFS3, DNAJA5, GS3, JJJ1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617048 27030 ENSG00000168724
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Bone Marrow Failure Syndrome bone marrow failure syndrome 3 rs770282904, rs368148362, rs771063992, rs1561183139, rs1561180439, rs1580531090, rs1580526958, rs879253818, rs150576702 N/A
Shwachman-Diamond Syndrome shwachman-diamond syndrome 1 rs368148362 N/A
Associations from Text Mining Disease 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