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    DNAJB12 DnaJ heat shock protein family (Hsp40) member B12 [ Homo sapiens (human) ]

    Gene ID: 54788, updated on 5-Mar-2024

    Summary

    Official Symbol
    DNAJB12provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member B12provided by HGNC
    Primary source
    HGNC:HGNC:14891
    See related
    Ensembl:ENSG00000148719 MIM:608376; AllianceGenome:HGNC:14891
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DJ10
    Summary
    DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in testis (RPKM 9.5), kidney (RPKM 9.2) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    10q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (72332863..72354919, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (73203895..73225949, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (74092621..74114677, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74030711-74031211 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74032179-74032702 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74032703-74033226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:74035325-74035848 Neighboring gene DDIT4 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74046277-74046777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2471 Neighboring gene Sharpr-MPRA regulatory region 1217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2472 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74057879-74058535 Neighboring gene DNA damage inducible transcript 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:74069939-74070924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3540 Neighboring gene Sharpr-MPRA regulatory region 14427 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:74081426-74082625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74084563-74085524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3549 Neighboring gene mitochondrial calcium uptake 1 Neighboring gene RNA, U6 small nuclear 805, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74182311-74183044 Neighboring gene sorting nexin 19 pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp586B2023

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Hsp70 protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables Hsp70 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    dnaJ homolog subfamily B member 12
    Names
    DnaJ (Hsp40) homolog, subfamily B, member 12

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001002762.5NP_001002762.3  dnaJ homolog subfamily B member 12 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1, 2 and 4 encode the same protein.
      Source sequence(s)
      AC091769, AL833358, BC011812, BC064920, DC397260
      Consensus CDS
      CCDS7316.3
      UniProtKB/Swiss-Prot
      B7Z7I3, Q9H6H0, Q9NXW2
      UniProtKB/TrEMBL
      J3KPS0
      Related
      ENSP00000345575.3, ENST00000338820.7
      Conserved Domains (2) summary
      pfam09320
      Location:268368
      DUF1977; Domain of unknown function (DUF1977)
      cl28246
      Location:110236
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    2. NM_001365080.3NP_001352009.1  dnaJ homolog subfamily B member 12 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC091769
      UniProtKB/TrEMBL
      J3KPS0
      Conserved Domains (2) summary
      pfam09320
      Location:268368
      DUF1977; Domain of unknown function (DUF1977)
      cl28246
      Location:110236
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    3. NM_001365081.3NP_001352010.1  dnaJ homolog subfamily B member 12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC091769
      Consensus CDS
      CCDS7316.3
      UniProtKB/Swiss-Prot
      B7Z7I3, Q9H6H0, Q9NXW2
      UniProtKB/TrEMBL
      J3KPS0
      Conserved Domains (2) summary
      pfam09320
      Location:268368
      DUF1977; Domain of unknown function (DUF1977)
      cl28246
      Location:110236
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    4. NM_017626.7NP_060096.4  dnaJ homolog subfamily B member 12 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1, 2 and 4 encode the same protein.
      Source sequence(s)
      AL833358, BC064920, DC397260
      Consensus CDS
      CCDS7316.3
      UniProtKB/Swiss-Prot
      B7Z7I3, Q9H6H0, Q9NXW2
      UniProtKB/TrEMBL
      J3KPS0
      Related
      ENSP00000403313.2, ENST00000444643.8
      Conserved Domains (2) summary
      pfam09320
      Location:268368
      DUF1977; Domain of unknown function (DUF1977)
      cl28246
      Location:110236
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    RNA

    1. NR_157570.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC091769

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      72332863..72354919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      73203895..73225949 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)