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

Gene ID: 84263, updated on 27-Nov-2024

Summary

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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ25855, MGC10940

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables steroid dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
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

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

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_001195822.2NP_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:246339
    SCP2; SCP-2 sterol transfer family
    cl21454
    Location:8175
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. NM_032303.5NP_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:8248
    HSDL2_SDR_c; human hydroxysteroid dehydrogenase-like protein 2 (HSDL2), classical (c) SDRs
    pfam02036
    Location:319412
    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_017015203.3XP_016870692.1  hydroxysteroid dehydrogenase-like protein 2 isoform X2

    UniProtKB/TrEMBL
    B4DWC7
    Conserved Domains (2) summary
    pfam02036
    Location:144238
    SCP2; SCP-2 sterol transfer family
    cl21454
    Location:1100
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_011519091.4XP_011517393.1  hydroxysteroid dehydrogenase-like protein 2 isoform X1

    Conserved Domains (2) summary
    cd09762
    Location:8248
    HSDL2_SDR_c; human hydroxysteroid dehydrogenase-like protein 2 (HSDL2), classical (c) SDRs
    pfam00106
    Location:12197
    adh_short; short chain dehydrogenase
  3. XM_047423969.1XP_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_054363980.1XP_054219955.1  hydroxysteroid dehydrogenase-like protein 2 isoform X2

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

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