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    HSDL2 hydroxysteroid dehydrogenase like 2 [ Homo sapiens (human) ]

    Gene ID: 84263, updated on 7-Apr-2024

    Summary

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    Official Symbol
    HSDL2provided by HGNC
    Official Full Name
    hydroxysteroid dehydrogenase like 2provided by HGNC
    Primary source
    HGNC:HGNC:18572
    See related
    Ensembl:ENSG00000119471 AllianceGenome:HGNC:18572
    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
    C9orf99; SDR13C1
    Summary
    Predicted to enable oxidoreductase activity. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in fat (RPKM 44.0), liver (RPKM 33.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9q32
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (112380108..112472405)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (124551300..124643585)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (115142388..115234685)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene polypyrimidine tract binding protein 3 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 28 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:115086563-115087088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20189 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:115095973-115096943 Neighboring gene HNF4 motif-containing MPRA enhancer 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28823 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:115141971-115142570 Neighboring gene ribosomal protein L32 pseudogene 22 Neighboring gene HSDL2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28825 Neighboring gene KIAA1958 Neighboring gene Sharpr-MPRA regulatory region 4745 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:115309395-115309946 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:115309947-115310499 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:115310500-115311051 Neighboring gene Sharpr-MPRA regulatory region 8480 Neighboring gene NANOG hESC enhancer GRCh37_chr9:115313867-115314374 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:115357836-115358025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:115380828-115381410 Neighboring gene MPRA-validated peak7319 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28826 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: 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. [HSDL2 overexpression promotes rectal cancer progression by regulating cancer cell cycle and promoting cell proliferation]. Cheng Y, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2023 Apr 20. PMID 37202189, Free PMC Article
    2. Lipid metabolism regulator human hydroxysteroid dehydrogenase-like 2 (HSDL2) modulates cervical cancer cell proliferation and metastasis. Yang Y, et al. J Cell Mol Med, 2021 May. PMID 33738911, Free PMC Article
    3. HSDL2 Promotes Bladder Cancer Growth In Vitro and In Vivo. Jia LH, et al. Int J Med Sci, 2019. PMID 31217732, Free PMC Article
    4. Down-regulated HSDL2 expression suppresses cell proliferation and promotes apoptosis in papillary thyroid carcinoma. Zeng J, et al. Biosci Rep, 2019 Jun 28. PMID 31101684, Free PMC Article
    5. Role of Hydroxysteroid Dehydrogenase-Like 2 (HSDL2) in Human Ovarian Cancer. Sun Q, et al. Med Sci Monit, 2018 Jun 12. PMID 29894468, Free PMC Article

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HSDL2 knockdown promotes the progression of cholangiocarcinoma by inhibiting ferroptosis through the P53/SLC7A11 axis.
      Title: HSDL2 knockdown promotes the progression of cholangiocarcinoma by inhibiting ferroptosis through the P53/SLC7A11 axis.
    2. [HSDL2 overexpression promotes rectal cancer progression by regulating cancer cell cycle and promoting cell proliferation].
      Title: [HSDL2 overexpression promotes rectal cancer progression by regulating cancer cell cycle and promoting cell proliferation].
    3. Lipid metabolism regulator human hydroxysteroid dehydrogenase-like 2 (HSDL2) modulates cervical cancer cell proliferation and metastasis.
      Title: Lipid metabolism regulator human hydroxysteroid dehydrogenase-like 2 (HSDL2) modulates cervical cancer cell proliferation and metastasis.
    4. Knockdown of HSDL2 inhibits lung adenocarcinoma progression via down-regulating AKT2 expression.
      Title: Knockdown of HSDL2 inhibits lung adenocarcinoma progression via down-regulating AKT2 expression.
    5. Hydroxysteroid dehydrogenase like 2 (HSDL2) expression was increased in papillary thyroid carcinoma (PTC) tissues and cells, which could promote tumor progression in vitro and in vivo.
      Title: Down-regulated HSDL2 expression suppresses cell proliferation and promotes apoptosis in papillary thyroid carcinoma.
    6. Study reported that HSDL2 was upregulated in two human bladder cancer cell lines 5637 and T24 compared to normal human urothelial cells. Lentiviral-mediated HSDL2 knockdown inhibited the proliferation and colony formation while promoted the apoptosis of human bladder cancer T24 cells in vitro and in nude mice T24 derived xenografts in vivo. Results suggest that HSDL2 plays an oncogenic role in bladder cancer.
      Title: HSDL2 Promotes Bladder Cancer Growth In Vitro and In Vivo.
    7. Study shows that HSDL2 upregulation is associated with ovarian cancer progression. HSDL2 knockdown inhibited cell proliferation, colony formation, motility, and tumorigenesis.
      Title: Role of Hydroxysteroid Dehydrogenase-Like 2 (HSDL2) in Human Ovarian Cancer.
    8. High expression of HSDL2 is associated with glioma.
      Title: Lentivirus-mediated silencing of HSDL2 suppresses cell proliferation in human gliomas.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of hydroxysteroid dehydrogenase like 2 (HSDL2) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25855, MGC10940

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    NOT enables steroid dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane 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
    		  
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    hydroxysteroid dehydrogenase-like protein 2
    Names
    short chain dehydrogenase/reductase family 13C member 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001195822.2 → NP_001182751.1  hydroxysteroid dehydrogenase-like protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001182751.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two consecutive exons in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AL162732, BC004331
      Consensus CDS
      CCDS56582.1
      UniProtKB/TrEMBL
      B2R923
      Related
      ENSP00000381783.1, ENST00000398803.1
      Conserved Domains (2) summary
      pfam02036
      Location:246 → 339
      SCP2; SCP-2 sterol transfer family
      cl21454
      Location:8 → 175
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_032303.5 → NP_115679.2  hydroxysteroid dehydrogenase-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_115679.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK098721, AY093428, BC004331, BC095451
      Consensus CDS
      CCDS43864.1
      UniProtKB/Swiss-Prot
      A8K1L4, A8K8X1, A8MSV3, Q658M8, Q6YN16, Q9BT58
      UniProtKB/TrEMBL
      B2R923
      Related
      ENSP00000381785.3, ENST00000398805.8
      Conserved Domains (2) summary
      cd09762
      Location:8 → 248
      HSDL2_SDR_c; human hydroxysteroid dehydrogenase-like protein 2 (HSDL2), classical (c) SDRs
      pfam02036
      Location:319 → 412
      SCP2; SCP-2 sterol transfer family

    RNA

    1. NR_036651.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK303645, AL162732, BC004331

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      112380108..112472405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015203.3 → XP_016870692.1  hydroxysteroid dehydrogenase-like protein 2 isoform X2

      UniProtKB/TrEMBL
      B4DWC7
      Conserved Domains (2) summary
      pfam02036
      Location:144 → 238
      SCP2; SCP-2 sterol transfer family
      cl21454
      Location:1 → 100
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. XM_011519091.4 → XP_011517393.1  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
      pfam00106
      Location:12 → 197
      adh_short; short chain dehydrogenase

    3. XM_047423969.1 → XP_047279925.1  hydroxysteroid dehydrogenase-like protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      124551300..124643585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363980.1 → XP_054219955.1  hydroxysteroid dehydrogenase-like protein 2 isoform X2

    2. XM_054363979.1 → XP_054219954.1  hydroxysteroid dehydrogenase-like protein 2 isoform X1

    3. XM_054363981.1 → XP_054219956.1  hydroxysteroid dehydrogenase-like protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6YN16.1 GenPept UniProtKB/Swiss-Prot:Q6YN16

    Gene LinkOut

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

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