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

Gene ID: 56898, updated on 8-Dec-2022

Summary

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, Apr 2022]
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

See BDH2 in Genome Data Viewer
Location:
4q24
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (103077592..103099834, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (106389483..106411725, complement)
105.20220307 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 solute carrier family 9 member B2 Neighboring gene centromere protein E Neighboring gene long intergenic non-protein coding RNA 2428

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
 
involved_in iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in iron ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in siderophore biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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

Preferred Names
dehydrogenase/reductase SDR family member 6; 3-hydroxybutyrate dehydrogenase type 2
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

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_020139.4NP_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
    Q9BUT1, Q9NRX8
    UniProtKB/TrEMBL
    A0A024RDG9
    Related
    ENSP00000296424.4, ENST00000296424.9
    Conserved Domains (1) summary
    cd05368
    Location:5245
    DHRS6_like_SDR_c; human DHRS6-like, classical (c) SDRs

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_005263140.4XP_005263197.1  3-hydroxybutyrate dehydrogenase type 2 isoform X3

    Conserved Domains (2) summary
    cd05368
    Location:5207
    DHRS6_like_SDR_c; human DHRS6-like, classical (c) SDRs
    PRK06138
    Location:2206
    PRK06138; short chain dehydrogenase; Provisional
  2. XM_006714274.4XP_006714337.1  3-hydroxybutyrate dehydrogenase type 2 isoform X1

    See identical proteins and their annotated locations for XP_006714337.1

    Conserved Domains (1) summary
    cd05368
    Location:5259
    DHRS6_like_SDR_c; human DHRS6-like, classical (c) SDRs
  3. XM_047415985.1XP_047271941.1  3-hydroxybutyrate dehydrogenase type 2 isoform X3

  4. XM_047415983.1XP_047271939.1  3-hydroxybutyrate dehydrogenase type 2 isoform X2

    UniProtKB/Swiss-Prot
    Q9NRX8
  5. XM_047415981.1XP_047271937.1  3-hydroxybutyrate dehydrogenase type 2 isoform X1

  6. XM_047415984.1XP_047271940.1  3-hydroxybutyrate dehydrogenase type 2 isoform X2

    UniProtKB/Swiss-Prot
    Q9NRX8
  7. XM_047415982.1XP_047271938.1  3-hydroxybutyrate dehydrogenase type 2 isoform X1

  8. XM_047415986.1XP_047271942.1  3-hydroxybutyrate dehydrogenase type 2 isoform X4

    UniProtKB/TrEMBL
    A0A024RDJ8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

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