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Hsdl2 hydroxysteroid dehydrogenase like 2 [ Mus musculus (house mouse) ]

Gene ID: 72479, updated on 2-Nov-2024

Summary

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Official Symbol
Hsdl2provided by MGI
Official Full Name
hydroxysteroid dehydrogenase like 2provided by MGI
Primary source
MGI:MGI:1919729
See related
Ensembl:ENSMUSG00000028383 AllianceGenome:MGI:1919729
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
2610207I16Rik
Summary
Predicted to enable oxidoreductase activity. Involved in cholesterol homeostasis. Located in mitochondrion. Orthologous to human HSDL2 (hydroxysteroid dehydrogenase like 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in heart adult (RPKM 26.3), bladder adult (RPKM 20.5) and 25 other tissues See more
Orthologs
human all
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Genomic context

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See Hsdl2 in Genome Data Viewer
Location:
4 B3; 4 32.69 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (59581515..59618694)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (59581517..59618694)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene sushi domain containing 1 Neighboring gene zinc finger, MYND domain containing 19 pseudogene Neighboring gene STARR-seq mESC enhancer starr_10375 Neighboring gene STARR-positive B cell enhancer ABC_E4630 Neighboring gene STARR-seq mESC enhancer starr_10376 Neighboring gene polypyrimidine tract binding protein 3 Neighboring gene STARR-seq mESC enhancer starr_10379 Neighboring gene STARR-positive B cell enhancer ABC_E4631 Neighboring gene STARR-positive B cell enhancer ABC_E6183 Neighboring gene STARR-positive B cell enhancer ABC_E835 Neighboring gene STARR-seq mESC enhancer starr_10381 Neighboring gene RIKEN cDNA E130308A19 gene Neighboring gene predicted gene, 54283 Neighboring gene STARR-seq mESC enhancer starr_10382 Neighboring gene STARR-positive B cell enhancer ABC_E421 Neighboring gene INTS3 and NABP interacting protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. [Cloning and characterization of a novel mouse short-chain dehydrogenase/reductases cDNA mHsdl2#, encoding a protein with a SDR domaid and a SCP2 domain]. Dai J, et al. Mol Biol (Mosk), 2005 Sep-Oct. PMID 16240713
  2. HSDL2 links nutritional cues to bile acid and cholesterol homeostasis. Samson N, et al. Sci Adv, 2024 May 31. PMID 38820148, Free PMC Article
  3. Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. Calvo SE, et al. Proc Natl Acad Sci U S A, 2009 May 5. PMID 19372376, Free PMC Article
  4. Upregulation of μ3A Drives Homeostatic Plasticity by Rerouting AMPAR into the Recycling Endosomal Pathway. Steinmetz CC, et al. Cell Rep, 2016 Sep 6. PMID 27568566, Free PMC Article
  5. Proteomic and yeast 2-hybrid screens to identify PTEN binding partners. Tibarewal P, et al. Adv Biol Regul, 2024 Jan. PMID 37839992

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HSDL2 links nutritional cues to bile acid and cholesterol homeostasis.
    Title: HSDL2 links nutritional cues to bile acid and cholesterol homeostasis.
  2. Includes the study of an upstream ORF in this gene, and shows that it functions to reduce protein levels by ~35%.
    Title: Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.
  3. Hsdl2 is widely expressed in normal mouse tissues and its expression level in liver increases after inducement with cholesterol food.
    Title: [Cloning and characterization of a novel mouse short-chain dehydrogenase/reductases cDNA mHsdl2#, encoding a protein with a SDR domaid and a SCP2 domain].
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in cholesterol homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in peroxisome IEA
Inferred from Electronic Annotation
more info
  
located_in peroxisome ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
hydroxysteroid dehydrogenase-like protein 2

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_001301367.1 → NP_001288296.1  hydroxysteroid dehydrogenase-like protein 2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' region, which causes translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded protein (isoform 2) is shorter at the N-terminus than isoform 1.
    Source sequence(s)
    AL806512, BX005031
    Consensus CDS
    CCDS80104.1
    UniProtKB/TrEMBL
    B1AX78, Q99JH2
    Related
    ENSMUSP00000103152.2, ENSMUST00000107528.8
    Conserved Domains (2) summary
    pfam02036
    Location:270 → 363
    SCP2; SCP-2 sterol transfer family
    cl21454
    Location:1 → 128
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  2. NM_024255.3 → NP_077217.2  hydroxysteroid dehydrogenase-like protein 2 isoform 1

    See identical proteins and their annotated locations for NP_077217.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
    Source sequence(s)
    AA545425, AY725196, BE944922, BY327952
    Consensus CDS
    CCDS38772.1
    UniProtKB/Swiss-Prot
    Q2TPA8, Q3ULY5, Q3UVZ3, Q8C3H3, Q99LV2
    Related
    ENSMUSP00000030078.6, ENSMUST00000030078.12
    Conserved Domains (3) summary
    cd09762
    Location:8 → 248
    HSDL2_SDR_c; human hydroxysteroid dehydrogenase-like protein 2 (HSDL2), classical (c) SDRs
    pfam00106
    Location:12 → 197
    adh_short; short chain dehydrogenase
    pfam02036
    Location:390 → 483
    SCP2; SCP-2 sterol transfer family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    59581515..59618694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036164461.1 → XP_036020354.1  hydroxysteroid dehydrogenase-like protein 2 isoform X3

    UniProtKB/TrEMBL
    Q99JH2
    Conserved Domains (2) summary
    pfam02036
    Location:186 → 278
    SCP2; SCP-2 sterol transfer family
    cl21454
    Location:3 → 69
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  2. XM_006538277.4 → XP_006538340.1  hydroxysteroid dehydrogenase-like protein 2 isoform X2

    Conserved Domains (2) summary
    pfam02036
    Location:358 → 450
    SCP2; SCP-2 sterol transfer family
    cl21454
    Location:8 → 215
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  3. XM_036164460.1 → XP_036020353.1  hydroxysteroid dehydrogenase-like protein 2 isoform X1

    Conserved Domains (2) summary
    cd09762
    Location:8 → 248
    HSDL2_SDR_c; human hydroxysteroid dehydrogenase-like protein 2 (HSDL2), classical (c) SDRs
    pfam02036
    Location:391 → 456
    SCP2; SCP-2 sterol transfer family
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2TPA8.1 GenPept UniProtKB/Swiss-Prot:Q2TPA8

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