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BDH2 3-hydroxybutyrate dehydrogenase 2 [ Homo sapiens (human) ]

Gene ID: 56898, updated on 27-Nov-2024

Summary

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Official Symbol
BDH2provided by HGNC
Official Full Name
3-hydroxybutyrate dehydrogenase 2provided by HGNC
Primary source
HGNC:HGNC:32389
See related
Ensembl:ENSG00000164039 AllianceGenome:HGNC:32389
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
DHRS6; EFA6R; SDR15C1; UCPA-OR; UNQ6308; PRO20933
Summary
Enables 3-hydroxybutyrate dehydrogenase activity and NAD binding activity. Involved in epithelial cell differentiation and fatty acid beta-oxidation. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in kidney (RPKM 50.7), duodenum (RPKM 25.0) and 23 other tissues See more
Orthologs
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Genomic context

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See BDH2 in Genome Data Viewer
Location:
4q24
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (103077592..103099834, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (106389483..106411725, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (103998749..104020991, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 9 member B1 Neighboring gene ACTR3B pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:103940703-103941203 Neighboring gene solute carrier family 9 member B2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21763 Neighboring gene centromere protein E Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:104119362-104119916 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:104176632-104177831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:104228025-104228542 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:104295695-104296229 Neighboring gene NANOG hESC enhancer GRCh37_chr4:104345927-104346428 Neighboring gene long intergenic non-protein coding RNA 2428

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. Human BDH2, an anti-apoptosis factor, is a novel poor prognostic factor for de novo cytogenetically normal acute myeloid leukemia. Yang WC, et al. J Biomed Sci, 2013 Aug 14. PMID 23941109, Free PMC Article
  2. Inflammation and ER stress downregulate BDH2 expression and dysregulate intracellular iron in macrophages. Zughaier SM, et al. J Immunol Res, 2014. PMID 25762501, Free PMC Article
  3. The Effects of Human BDH2 on the Cell Cycle, Differentiation, and Apoptosis and Associations with Leukemia Transformation in Myelodysplastic Syndrome. Yang WC, et al. Int J Mol Sci, 2020 Apr 25. PMID 32344823, Free PMC Article
  4. Inactivation of 3-hydroxybutyrate dehydrogenase type 2 promotes proliferation and metastasis of nasopharyngeal carcinoma by iron retention. Li B, et al. Br J Cancer, 2020 Jan. PMID 31819181, Free PMC Article
  5. Siderophore-mediated iron trafficking in humans is regulated by iron. Liu Z, et al. J Mol Med (Berl), 2012 Oct. PMID 22527885, Free PMC Article

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BDH2 triggers ROS-induced cell death and autophagy by promoting Nrf2 ubiquitination in gastric cancer.
    Title: BDH2 triggers ROS-induced cell death and autophagy by promoting Nrf2 ubiquitination in gastric cancer.
  2. The Effects of Human BDH2 on the Cell Cycle, Differentiation, and Apoptosis and Associations with Leukemia Transformation in Myelodysplastic Syndrome.
    Title: The Effects of Human BDH2 on the Cell Cycle, Differentiation, and Apoptosis and Associations with Leukemia Transformation in Myelodysplastic Syndrome.
  3. BDH2 expression is downregulated in nasopharyngeal carcinoma. Overexpression of BDH2 in nasopharyngeal carcinoma cells decreased the levels of intracellular iron, thereby inhibiting cell proliferation. In addition, overexpression of BDH2 reduced invasion and migration of nasopharyngeal carcinoma cells by reversing epithelial-mesenchymal transition.
    Title: Inactivation of 3-hydroxybutyrate dehydrogenase type 2 promotes proliferation and metastasis of nasopharyngeal carcinoma by iron retention.
  4. LncRNA TP73 antisense RNA 1T (TP73-AS1) positively regulates 3-hydroxybutyrate dehydrogenase type 2 (BDH2) by regulating miR-141.
    Title: LncRNA TP73-AS1 sponges miR-141-3p to promote the migration and invasion of pancreatic cancer cells through the up-regulation of BDH2.
  5. Data demonstrated that the dysregulation of iron homeostasis in CD4(+) T cells induced by BDH2 deficiency contributes to DNA demethylation and self-reactive T cells in SLE.
    Title: Downregulation of BDH2 modulates iron homeostasis and promotes DNA demethylation in CD4(+) T cells of systemic lupus erythematosus.
  6. High expression level of BDH2 is associated with esophageal squamous cell carcinoma.
    Title: Knockdown of long non-coding RNA TP73-AS1 inhibits cell proliferation and induces apoptosis in esophageal squamous cell carcinoma.
  7. intracellular expression in macrophages is downregulated by stress and inflammation
    Title: Inflammation and ER stress downregulate BDH2 expression and dysregulate intracellular iron in macrophages.
  8. BDH2 expression is an independent poor prognostic factor for CN-AML, with an anti-apoptotic role. Patients with high BDH2 expression have relatively shorter overall survival and a low complete response rate.
    Title: Human BDH2, an anti-apoptosis factor, is a novel poor prognostic factor for de novo cytogenetically normal acute myeloid leukemia.
  9. Iron-mediated post-transcriptional regulation of hBDH2 controls mitochondrial iron homeostasis in human cells.
    Title: Siderophore-mediated iron trafficking in humans is regulated by iron.
  10. Data show that the ketone body metabolizing enzymes BDH1, BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level in all glioma cell lines.
    Title: Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

  • FLJ13261

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3-hydroxybutyrate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 3-hydroxybutyrate dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 4-oxoproline reductase activity IEA
Inferred from Electronic Annotation
more info
  
enables NAD binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in epithelial cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid beta-oxidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in heme metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_positive_effect intracellular sequestering of iron ion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in siderophore biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in siderophore biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
NOT located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
dehydrogenase/reductase SDR family member 6
Names
(R)-beta-hydroxybutyrate dehydrogenase
3-hydroxybutyrate dehydrogenase, type 2
4-oxo-L-proline reductase
R-beta-hydroxybutyrate dehydrogenase
oxidoreductase UCPA
short chain dehydrogenase/reductase family 15C member 1
NP_064524.3
XP_005263197.1
XP_006714337.1
XP_047271937.1
XP_047271938.1
XP_047271939.1
XP_047271940.1
XP_047271941.1
XP_047271942.1
XP_054206515.1
XP_054206516.1
XP_054206517.1
XP_054206518.1
XP_054206519.1
XP_054206520.1
XP_054206521.1
XP_054206522.1

NCBI Reference Sequences (RefSeq)

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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_020139.4 → NP_064524.3  dehydrogenase/reductase SDR family member 6

    See identical proteins and their annotated locations for NP_064524.3

    Status: VALIDATED

    Source sequence(s)
    AC097485, AW136198, BC001953, BC095414, BI544872
    Consensus CDS
    CCDS3663.1
    UniProtKB/Swiss-Prot
    A8K295, B4DUF6, Q503A0, Q6IA46, Q6UWD3, Q9BUT1, Q9H8S8, Q9NRX8
    Related
    ENSP00000296424.4, ENST00000296424.9
    Conserved Domains (1) summary
    cd05368
    Location:5 → 245
    DHRS6_like_SDR_c; human DHRS6-like, classical (c) SDRs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    103077592..103099834 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263140.4 → XP_005263197.1  dehydrogenase/reductase SDR family member 6 isoform X3

    Conserved Domains (2) summary
    cd05368
    Location:5 → 207
    DHRS6_like_SDR_c; human DHRS6-like, classical (c) SDRs
    PRK06138
    Location:2 → 206
    PRK06138; short chain dehydrogenase; Provisional

  2. XM_006714274.4 → XP_006714337.1  dehydrogenase/reductase SDR family member 6 isoform X1

    See identical proteins and their annotated locations for XP_006714337.1

    Conserved Domains (1) summary
    cd05368
    Location:5 → 259
    DHRS6_like_SDR_c; human DHRS6-like, classical (c) SDRs

  3. XM_047415985.1 → XP_047271941.1  dehydrogenase/reductase SDR family member 6 isoform X3

  4. XM_047415983.1 → XP_047271939.1  dehydrogenase/reductase SDR family member 6 isoform X2

    UniProtKB/Swiss-Prot
    A8K295, B4DUF6, Q503A0, Q6IA46, Q6UWD3, Q9BUT1, Q9H8S8, Q9NRX8

  5. XM_047415981.1 → XP_047271937.1  dehydrogenase/reductase SDR family member 6 isoform X1

  6. XM_047415984.1 → XP_047271940.1  dehydrogenase/reductase SDR family member 6 isoform X2

    UniProtKB/Swiss-Prot
    A8K295, B4DUF6, Q503A0, Q6IA46, Q6UWD3, Q9BUT1, Q9H8S8, Q9NRX8

  7. XM_047415982.1 → XP_047271938.1  dehydrogenase/reductase SDR family member 6 isoform X1

  8. XM_047415986.1 → XP_047271942.1  dehydrogenase/reductase SDR family member 6 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    106389483..106411725 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350545.1 → XP_054206520.1  dehydrogenase/reductase SDR family member 6 isoform X3

  2. XM_054350540.1 → XP_054206515.1  dehydrogenase/reductase SDR family member 6 isoform X1

  3. XM_054350546.1 → XP_054206521.1  dehydrogenase/reductase SDR family member 6 isoform X3

  4. XM_054350543.1 → XP_054206518.1  dehydrogenase/reductase SDR family member 6 isoform X2

    UniProtKB/Swiss-Prot
    A8K295, B4DUF6, Q503A0, Q6IA46, Q6UWD3, Q9BUT1, Q9H8S8, Q9NRX8

  5. XM_054350541.1 → XP_054206516.1  dehydrogenase/reductase SDR family member 6 isoform X1

  6. XM_054350544.1 → XP_054206519.1  dehydrogenase/reductase SDR family member 6 isoform X2

    UniProtKB/Swiss-Prot
    A8K295, B4DUF6, Q503A0, Q6IA46, Q6UWD3, Q9BUT1, Q9H8S8, Q9NRX8

  7. XM_054350542.1 → XP_054206517.1  dehydrogenase/reductase SDR family member 6 isoform X1

  8. XM_054350547.1 → XP_054206522.1  dehydrogenase/reductase SDR family member 6 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BUT1.2 GenPept UniProtKB/Swiss-Prot:Q9BUT1

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