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Aliases for HSDL2 Gene

Aliases for HSDL2 Gene

  • Hydroxysteroid Dehydrogenase Like 2 2 3
  • Short Chain Dehydrogenase/Reductase Family 13C Member 1 3 4
  • C9orf99 3 4
  • SDR13C1 3 4
  • Short Chain Dehydrogenase/Reductase Family 13C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 13C 2
  • Hydroxysteroid Dehydrogenase-Like Protein 2 3
  • Chromosome 9 Open Reading Frame 99 2
  • EC 63
  • EC 1.-.-.- 4
  • Member 1 2
  • EC 1.1.1 63

External Ids for HSDL2 Gene

Previous HGNC Symbols for HSDL2 Gene

  • C9orf99

Previous GeneCards Identifiers for HSDL2 Gene

  • GC09P112222
  • GC09P114182
  • GC09P115142
  • GC09P084741

Summaries for HSDL2 Gene

GeneCards Summary for HSDL2 Gene

HSDL2 (Hydroxysteroid Dehydrogenase Like 2) is a Protein Coding gene. GO annotations related to this gene include oxidoreductase activity and sterol binding.

UniProtKB/Swiss-Prot for HSDL2 Gene

  • Has apparently no steroid dehydrogenase activity.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSDL2 Gene

Genomics for HSDL2 Gene

Regulatory Elements for HSDL2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HSDL2 Gene

112,379,909 bp from pter
112,472,410 bp from pter
92,502 bases
Plus strand

Genomic View for HSDL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HSDL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSDL2 Gene

Proteins for HSDL2 Gene

  • Protein details for HSDL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Hydroxysteroid dehydrogenase-like protein 2
    Protein Accession:
    Secondary Accessions:
    • A8K1L4
    • A8K8X1
    • A8MSV3
    • Q658M8
    • Q9BT58

    Protein attributes for HSDL2 Gene

    418 amino acids
    Molecular mass:
    45395 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for HSDL2 Gene

    Alternative splice isoforms for HSDL2 Gene


neXtProt entry for HSDL2 Gene

Proteomics data for HSDL2 Gene at MOPED

Selected DME Specific Peptides for HSDL2 Gene

Post-translational modifications for HSDL2 Gene

  • Ubiquitination at Lys49
  • Modification sites at PhosphoSitePlus

Other Protein References for HSDL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for HSDL2 Gene

Gene Families for HSDL2 Gene

  • SDRC1 :Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1

Graphical View of Domain Structure for InterPro Entry



  • Q6YN16
  • Contains 1 SCP2 domain.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSDL2: view

Function for HSDL2 Gene

Molecular function for HSDL2 Gene

UniProtKB/Swiss-Prot Function:
Has apparently no steroid dehydrogenase activity.

Enzyme Numbers (IUBMB) for HSDL2 Gene

Gene Ontology (GO) - Molecular Function for HSDL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with HSDL2: view

Phenotypes for HSDL2 Gene

genes like me logo Genes that share phenotypes with HSDL2: view

Animal Model Products

miRNA for HSDL2 Gene

miRTarBase miRNAs that target HSDL2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HSDL2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for HSDL2 Gene

Localization for HSDL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSDL2 Gene


Subcellular locations from

Jensen Localization Image for HSDL2 Gene COMPARTMENTS Subcellular localization image for HSDL2 gene
Compartment Confidence
peroxisome 5
mitochondrion 3
cytosol 2

Gene Ontology (GO) - Cellular Components for HSDL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IDA 19703561
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with HSDL2: view

Pathways for HSDL2 Gene

SuperPathways for HSDL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HSDL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0008152 metabolic process --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HSDL2: view

No data available for Pathways by source for HSDL2 Gene

Transcripts for HSDL2 Gene

Unigene Clusters for HSDL2 Gene

Hydroxysteroid dehydrogenase like 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HSDL2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSDL2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: -
SP2: - - -
SP3: - -
SP4: - - - -
SP5: - - -

Relevant External Links for HSDL2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HSDL2 Gene

mRNA expression in normal human tissues for HSDL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSDL2 Gene

This gene is overexpressed in Heart - Left Ventricle (4.4) and Muscle - Skeletal (4.2).

Protein differential expression in normal tissues for HSDL2 Gene

This gene is overexpressed in Heart (11.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HSDL2 Gene

SOURCE GeneReport for Unigene cluster for HSDL2 Gene Hs.59486

mRNA Expression by UniProt/SwissProt for HSDL2 Gene

Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with HSDL2: view

Expression partners for HSDL2 Gene

In Situ Assay Products

Orthologs for HSDL2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSDL2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HSDL2 35
  • 89.47 (n)
  • 89.23 (a)
HSDL2 36
  • 89 (a)
(Canis familiaris)
Mammalia HSDL2 35
  • 90.67 (n)
  • 88.28 (a)
HSDL2 36
  • 88 (a)
(Pan troglodytes)
Mammalia HSDL2 35
  • 99.52 (n)
  • 100 (a)
HSDL2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Hsdl2 35
  • 85.14 (n)
  • 86.08 (a)
(Mus musculus)
Mammalia Hsdl2 16
Hsdl2 36
  • 74 (a)
(Monodelphis domestica)
Mammalia HSDL2 36
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
-- 36
  • 61 (a)
(Gallus gallus)
Aves HSDL2 35
  • 73.04 (n)
  • 73.12 (a)
HSDL2 36
  • 72 (a)
(Anolis carolinensis)
Reptilia HSDL2 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hsdl2 35
  • 71.54 (n)
  • 73.86 (a)
Str.15284 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68498 35
(Danio rerio)
Actinopterygii hsdl2 35
  • 68.43 (n)
  • 70.36 (a)
wufb58f08 35
hsdl2 36
  • 69 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012513 35
  • 57.44 (n)
  • 59.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5590 35
  • 57.15 (n)
  • 59.8 (a)
CG5590 36
  • 56 (a)
(Caenorhabditis elegans)
Secernentea dhs-18 35
  • 60.48 (n)
  • 65.45 (a)
dhs-18 36
  • 61 (a)
dhs-6 36
  • 53 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4883 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00305 35
  • 45.07 (n)
  • 36.4 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8410 36
  • 56 (a)
Species with no ortholog for HSDL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSDL2 Gene

Gene Tree for HSDL2 (if available)
Gene Tree for HSDL2 (if available)

Paralogs for HSDL2 Gene

No data available for Paralogs for HSDL2 Gene

Variants for HSDL2 Gene

Sequence variations from dbSNP and Humsavar for HSDL2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs7095 -- 112,472,114(+) GGACA(C/G)TTTCA utr-variant-3-prime, nc-transcript-variant
rs7096 -- 112,472,331(+) ctggc(A/G)gggct utr-variant-3-prime, nc-transcript-variant
rs944356 -- 112,421,555(-) TTTTT(A/T)AAATG intron-variant
rs944357 -- 112,459,858(-) AATAT(A/G)ATGAA intron-variant
rs949904 -- 112,421,656(-) TGGGA(A/G)GCCGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HSDL2 Gene

Variant ID Type Subtype PubMed ID
nsv466487 CNV Loss 19166990
nsv511430 CNV Loss 21212237
nsv6668 CNV Insertion 18451855
nsv893732 CNV Gain 21882294
nsv825046 CNV Gain 20364138
esv2678312 CNV Deletion 23128226
nsv6669 CNV Insertion 18451855
esv32838 CNV Gain 17666407
dgv1231n67 CNV Gain 20364138

Relevant External Links for HSDL2 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSDL2 Gene

Disorders for HSDL2 Gene

Relevant External Links for HSDL2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator

No disorders were found for HSDL2 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for HSDL2 Gene

Publications for HSDL2 Gene

  1. Molecular cloning and characterization of a novel human hydroxysteroid dehydrogenase-like 2 (HSDL2) cDNA from fetal brain. (PMID: 12834046) Dai J. … Mao Y. (Biochem. Genet. 2003) 2 3 4 23
  2. In search for function of two human orphan SDR enzymes: Hydroxysteroid dehydrogenase like 2 (HSDL2) and short-chain dehydrogenase/reductase-orphan (SDR-O). (PMID: 19703561) Kowalik D. … Moeller G. (J. Steroid Biochem. Mol. Biol. 2009) 3 4 23
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PMID: 20583170) Letra A. … Vieira A.R. (Am. J. Med. Genet. A 2010) 3 48
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for HSDL2 Gene

Sources for HSDL2 Gene

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