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

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, Nov 2024]
Expression: Broad expression in kidney (RPKM 50.7), duodenum (RPKM 25.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
intracellular expression in macrophages is downregulated by stress and inflammation
Title: Inflammation and ER stress downregulate BDH2 expression and dysregulate intracellular iron in macrophages.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH120792 (e-PCR)
- UniSTS:132873

STS-N58734 (e-PCR)
- UniSTS:53588

RH94279 (e-PCR)
- UniSTS:84839

RH91916 (e-PCR)
- UniSTS:84585

SHGC-67353 (e-PCR)
- UniSTS:84439

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 more info	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

EC 1.1.1.104

EC 1.1.1.30

XP_005263197.1

EC 1.1.1.104

EC 1.1.1.30

XP_006714337.1

EC 1.1.1.104

EC 1.1.1.30

XP_047271937.1

EC 1.1.1.104

EC 1.1.1.30

XP_047271938.1

EC 1.1.1.104

EC 1.1.1.30

XP_047271939.1

EC 1.1.1.104

EC 1.1.1.30

XP_047271940.1

EC 1.1.1.104

EC 1.1.1.30

XP_047271941.1

EC 1.1.1.104

EC 1.1.1.30

XP_047271942.1

EC 1.1.1.104

EC 1.1.1.30

XP_054206515.1

EC 1.1.1.104

EC 1.1.1.30

XP_054206516.1

EC 1.1.1.104

EC 1.1.1.30

XP_054206517.1

EC 1.1.1.104

EC 1.1.1.30

XP_054206518.1

EC 1.1.1.104

EC 1.1.1.30

XP_054206519.1

EC 1.1.1.104

EC 1.1.1.30

XP_054206520.1

EC 1.1.1.104

EC 1.1.1.30

XP_054206521.1

EC 1.1.1.104

EC 1.1.1.30

XP_054206522.1

EC 1.1.1.104

EC 1.1.1.30

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)

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

103077592..103099834 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_047415985.1 → XP_047271941.1 dehydrogenase/reductase SDR family member 6 isoform X3
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
XM_047415981.1 → XP_047271937.1 dehydrogenase/reductase SDR family member 6 isoform X1
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
XM_047415982.1 → XP_047271938.1 dehydrogenase/reductase SDR family member 6 isoform X1
XM_047415986.1 → XP_047271942.1 dehydrogenase/reductase SDR family member 6 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

106389483..106411725 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054350545.1 → XP_054206520.1 dehydrogenase/reductase SDR family member 6 isoform X3
XM_054350540.1 → XP_054206515.1 dehydrogenase/reductase SDR family member 6 isoform X1
XM_054350546.1 → XP_054206521.1 dehydrogenase/reductase SDR family member 6 isoform X3
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
XM_054350541.1 → XP_054206516.1 dehydrogenase/reductase SDR family member 6 isoform X1
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
XM_054350542.1 → XP_054206517.1 dehydrogenase/reductase SDR family member 6 isoform X1
XM_054350547.1 → XP_054206522.1 dehydrogenase/reductase SDR family member 6 isoform X4