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

Gene ID: 84263, updated on 3-Nov-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. Involved in cholesterol homeostasis. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in fat (RPKM 44.0), liver (RPKM 33.8) and 24 other tissues See more
Orthologs
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Genomic context

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See HSDL2 in Genome Data Viewer
Location:
9q32
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (112380108..112472405)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (124551300..124643585)
RS_2024_09 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 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. 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
  2. Lentivirus-mediated silencing of HSDL2 suppresses cell proliferation in human gliomas. Ruokun C, et al. Tumour Biol, 2016 Nov. PMID 27658777
  3. Molecular cloning and characterization of a novel human hydroxysteroid dehydrogenase-like 2 (HSDL2) cDNA from fetal brain. Dai J, et al. Biochem Genet, 2003 Jun. PMID 12834046
  4. HSDL2 knockdown promotes the progression of cholangiocarcinoma by inhibiting ferroptosis through the P53/SLC7A11 axis. Ma S, et al. World J Surg Oncol, 2023 Sep 18. PMID 37718459, 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 (88) 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. Circular RNA HSDL2 promotes breast cancer progression via miR-7978 ZNF704 axis and regulating hippo signaling pathway.
    Title: Circular RNA HSDL2 promotes breast cancer progression via miR-7978 ZNF704 axis and regulating hippo signaling pathway.
  3. 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.
  4. [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].
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. High expression of HSDL2 is associated with glioma.
    Title: Lentivirus-mediated silencing of HSDL2 suppresses cell proliferation in human gliomas.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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
  
involved_in cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane HDA PubMed 
located_in mitochondrion HTP 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 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_2024_08

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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