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    HSPA12B heat shock protein family A (Hsp70) member 12B [ Homo sapiens (human) ]

    Gene ID: 116835, updated on 7-Apr-2024

    Summary

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    Official Symbol
    HSPA12Bprovided by HGNC
    Official Full Name
    heat shock protein family A (Hsp70) member 12Bprovided by HGNC
    Primary source
    HGNC:HGNC:16193
    See related
    Ensembl:ENSG00000132622 MIM:610702; AllianceGenome:HGNC:16193
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C20orf60
    Summary
    The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
    Expression
    Broad expression in fat (RPKM 15.5), spleen (RPKM 11.6) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20p13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (3732685..3753111)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (3763655..3784065)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3713332..3733758)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3651223-3651828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3657784-3658386 Neighboring gene ADAM metallopeptidase domain 33 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3658990-3659591 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3662082-3662975 Neighboring gene sialic acid binding Ig like lectin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3678505-3679004 Neighboring gene Sharpr-MPRA regulatory region 3812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12624 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3713394-3713973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3722898-3723425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3725082-3725992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3729440-3729992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3729993-3730543 Neighboring gene adipose secreted signaling protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3747545-3748309 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3748437-3749023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3759113-3759730 Neighboring gene Sharpr-MPRA regulatory region 2213 Neighboring gene sperm flagellar 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. HSPA12B Attenuated Acute Myocardial Ischemia/reperfusion Injury via Maintaining Endothelial Integrity in a PI3K/Akt/mTOR-dependent Mechanism. Kong Q, et al. Sci Rep, 2016 Sep 20. PMID 27644317, Free PMC Article
    2. HSPA12B: a novel facilitator of lung tumor growth. Ma H, et al. Oncotarget, 2015 Apr 30. PMID 25909170, Free PMC Article
    3. HSPA12B inhibits lipopolysaccharide-induced inflammatory response in human umbilical vein endothelial cells. Wu J, et al. J Cell Mol Med, 2015 Mar. PMID 25545050, Free PMC Article
    4. Novel Role of Endothelial Derived Exosomal HSPA12B in Regulating Macrophage Inflammatory Responses in Polymicrobial Sepsis. Tu F, et al. Front Immunol, 2020. PMID 32457753, Free PMC Article
    5. MiR-4505 aggravates lipopolysaccharide-induced vascular endothelial injury by targeting heat shock protein A12B. Zhang X, et al. Mol Med Rep, 2018 Jan. PMID 29115487

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel Role of Endothelial Derived Exosomal HSPA12B in Regulating Macrophage Inflammatory Responses in Polymicrobial Sepsis.
      Title: Novel Role of Endothelial Derived Exosomal HSPA12B in Regulating Macrophage Inflammatory Responses in Polymicrobial Sepsis.
    2. miR4505 downregulates the expression of HSPA12B and aggravates the LPSinduced vascular endothelial cell injury.
      Title: MiR-4505 aggravates lipopolysaccharide-induced vascular endothelial injury by targeting heat shock protein A12B.
    3. HSPA12B overexpression attenuated acute myocardial I/R injury. This protective action of HSPA12B was mediated, at least in part, through activation of PI3K/Akt/mTOR signaling.
      Title: HSPA12B Attenuated Acute Myocardial Ischemia/reperfusion Injury via Maintaining Endothelial Integrity in a PI3K/Akt/mTOR-dependent Mechanism.
    4. HSPA12B plays a protective role in vascular endothelial barrier dysfunction by preserving the endothelial permeability during sepsis.
      Title: Heat shock protein A12B protects against sepsis-induced impairment in vascular endothelial permeability.
    5. The HSPA12B might regulate the expression and activity of SSeCKS to promote astrocyte inflammatory activation and release of inflammatory mediators, such as TNF-alpha and IL-1beta in spinal cord primary astroglial cultures exposed to LPS treatment.
      Title: HSPA12B regulates SSeCKS-mediated astrocyte inflammatory activation in neuroinflammation.
    6. Results indicate that HSPA12B stimulates lung tumor growth via a Cox-2-dependent mechanism. The present study identified HSPA12B as a novel facilitator of lung tumor growth.
      Title: HSPA12B: a novel facilitator of lung tumor growth.
    7. HSPA12B attenuates lipopolysaccharide-induced inflammatory responses in human umbilical vein endothelial cells via activation of PI3K/Akt signalling pathway.
      Title: HSPA12B inhibits lipopolysaccharide-induced inflammatory response in human umbilical vein endothelial cells.
    8. Plasma extracellular HSPA12B is elevated in both septic mice and patients.
      Title: Plasma HSPA12B is a potential predictor for poor outcome in severe sepsis.
    9. inhibition of eNOS abrogated the protection of HSPA12B against cardiac dysfunction and remodelling after myocardial infarction
      Title: HSPA12B attenuates cardiac dysfunction and remodelling after myocardial infarction through an eNOS-dependent mechanism.
    10. Overexpression of HSPA12B protects against cerebral ischemia/reperfusion injury via a PI3K/Akt-dependent mechanism.
      Title: Overexpression of HSPA12B protects against cerebral ischemia/reperfusion injury via a PI3K/Akt-dependent mechanism.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Over expression of hsp70 with a herpes viral amplicon vector protects cultured hippocampal rat neurons from gp120 neurotoxicity PubMed
    env The exposure of permissive CD4+ cells to HIV-1 gp120 increases the synthesis and nuclear translocation of 70kDa heat shock protein PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32150, MGC131912, dJ1009E24.2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    heat shock 70 kDa protein 12B

    NCBI Reference Sequences (RefSeq)

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    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_001197327.2 → NP_001184256.1  heat shock 70 kDa protein 12B isoform 2

      See identical proteins and their annotated locations for NP_001184256.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL109804, BC110881, BC117284, BC143932
      UniProtKB/TrEMBL
      B4DVZ0, B7ZLP2
      Conserved Domains (1) summary
      cl17037
      Location:61 → 528
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    2. NM_001318322.2 → NP_001305251.1  heat shock 70 kDa protein 12B isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon, resulting in a distinct 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK297120, AL109804, BC090857
      Consensus CDS
      CCDS82596.1
      UniProtKB/TrEMBL
      B4DVZ0, Q5JX83
      Related
      ENSP00000382608.1, ENST00000399701.1
      Conserved Domains (1) summary
      cl17037
      Location:1 → 443
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    3. NM_052970.5 → NP_443202.3  heat shock 70 kDa protein 12B isoform 1

      See identical proteins and their annotated locations for NP_443202.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL109804, BC110881, BC117284
      Consensus CDS
      CCDS13061.1
      UniProtKB/Swiss-Prot
      D3DVX7, Q2TAK3, Q96MM6, Q9BR52
      UniProtKB/TrEMBL
      B4DVZ0
      Related
      ENSP00000254963.2, ENST00000254963.7
      Conserved Domains (1) summary
      cl17037
      Location:61 → 529
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      3732685..3753111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439869.1 → XP_047295825.1  heat shock 70 kDa protein 12B isoform X1

      UniProtKB/Swiss-Prot
      D3DVX7, Q2TAK3, Q96MM6, Q9BR52

    2. XM_047439870.1 → XP_047295826.1  heat shock 70 kDa protein 12B isoform X2

    3. XM_017027635.2 → XP_016883124.1  heat shock 70 kDa protein 12B isoform X5

    4. XM_017027632.3 → XP_016883121.1  heat shock 70 kDa protein 12B isoform X1

      UniProtKB/Swiss-Prot
      D3DVX7, Q2TAK3, Q96MM6, Q9BR52
      UniProtKB/TrEMBL
      B4DVZ0
      Conserved Domains (1) summary
      cl17037
      Location:61 → 529
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    5. XM_017027633.2 → XP_016883122.1  heat shock 70 kDa protein 12B isoform X3

    6. XM_017027634.1 → XP_016883123.1  heat shock 70 kDa protein 12B isoform X5

    7. XM_011529151.3 → XP_011527453.1  heat shock 70 kDa protein 12B isoform X4

      See identical proteins and their annotated locations for XP_011527453.1

      UniProtKB/TrEMBL
      B4DLR4, B4DVZ0
      Conserved Domains (1) summary
      cl17037
      Location:1 → 363
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      3763655..3784065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322931.1 → XP_054178906.1  heat shock 70 kDa protein 12B isoform X1

    2. XM_054322932.1 → XP_054178907.1  heat shock 70 kDa protein 12B isoform X2

    3. XM_054322936.1 → XP_054178911.1  heat shock 70 kDa protein 12B isoform X5

    4. XM_054322930.1 → XP_054178905.1  heat shock 70 kDa protein 12B isoform X1

    5. XM_054322933.1 → XP_054178908.1  heat shock 70 kDa protein 12B isoform X3

    6. XM_054322935.1 → XP_054178910.1  heat shock 70 kDa protein 12B isoform X5

    7. XM_054322934.1 → XP_054178909.1  heat shock 70 kDa protein 12B isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MM6.2 GenPept UniProtKB/Swiss-Prot:Q96MM6

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