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

    Gene ID: 72479, updated on 3-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 (25) 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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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