Aliases for HSDL2 Gene

Aliases for HSDL2 Gene

  • Hydroxysteroid Dehydrogenase Like 2 2 3 5
  • SDR13C1 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 13C Member 1 3 4
  • Hydroxysteroid Dehydrogenase-Like Protein 2 3 4
  • C9orf99 3 4
  • Short Chain Dehydrogenase/Reductase Family 13C, Member 1 2
  • Chromosome 9 Open Reading Frame 99 2
  • EC 51
  • EC 1.-.-.- 4
  • EC 1.1.1 51
  • HSDL2 5

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. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity. An important paralog of this gene is CBR1.

UniProtKB/Swiss-Prot Summary for HSDL2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSDL2 Gene

Genomics for HSDL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HSDL2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J112376 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 295.1 -0.7 -707 4.8 TBP ZBTB10 FEZF1 CEBPA MNT IKZF1 SMAD5 IRF2 MBD2 POLR2A HSDL2 HSALNG0073770 lnc-PTBP3-4 SUSD1 PTBP3 lnc-PTBP3-7
GH09J112485 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 19.1 +108.6 108630 6.6 ZSCAN16 TBP ZBTB10 SP1 MXD4 FEZF1 CEBPA MNT SMAD5 ETS1 C9orf147 HSALNG0073775 KIAA1958 HSDL2 INIP ENSG00000226609 SNX30 piR-39663-002
GH09J112382 Enhancer 0.8 ENCODE 42.2 +2.8 2799 0.6 CEBPA FOXA2 SMAD4 SAP130 RXRA MIER3 RARA TEAD3 BCL6 JUND piR-57135-124 HSDL2 HSALNG0073770 KIAA1958
GH09J112447 Enhancer 0.8 Ensembl ENCODE 37.3 +66.5 66549 3.6 IKZF1 VEZF1 ZEB2 ZFP91 ZNF316 NFE2 FOXK2 ZNF384 MEIS2 DPF2 HSDL2 C9orf147 KIAA1958 INIP ENSG00000226609 SNX30 SUSD1 HSALNG0073773 piR-41306-268
GH09J112383 Enhancer 0.7 ENCODE 43.4 +4.8 4821 2.2 MAFF SMAD4 SAP130 RXRA CTBP1 RARA ZNF316 FOXP1 MAFK HNF4A piR-57135-124 HSDL2 SUSD1 HSALNG0073770 piR-46847-286 KIAA1958
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSDL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSDL2

Top Transcription factor binding sites by QIAGEN in the HSDL2 gene promoter:
  • COUP
  • COUP-TF1
  • ER-alpha
  • HNF-4alpha1
  • HNF-4alpha2
  • HSF1 (long)
  • HSF1short

Genomic Locations for HSDL2 Gene

Latest Assembly
92,359 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
92,298 bases
Plus strand

(GRCh37/hg19 by Ensembl)
92,474 bases
Plus strand

Genomic View for HSDL2 Gene

Genes around HSDL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSDL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

Domains & Families for HSDL2 Gene

Gene Families for HSDL2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for HSDL2 Gene

  • Short-chain dehydrogenase/reductase SDR
  • Glucose/ribitol dehydrogenase family signature
  • Sterol-binding

Suggested Antigen Peptide Sequences for HSDL2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52979, highly similar to Homo sapiens hydroxysteroid dehydrogenase like 2 (HSDL2), mRNA (B4DWC7_HUMAN)
  • cDNA FLJ61200, highly similar to Homo sapiens hydroxysteroid dehydrogenase like 2 (HSDL2), mRNA (B4E136_HUMAN)
  • Hydroxysteroid dehydrogenase-like protein 2 (HSDL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
  • 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

Phenotypes From GWAS Catalog 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
genes like me logo Genes that share phenotypes with HSDL2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSDL2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HSDL2 Gene

Localization for HSDL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSDL2 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSDL2 gene
Compartment Confidence
mitochondrion 5
peroxisome 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HSDL2 Gene

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

Pathways & Interactions for HSDL2 Gene

PathCards logo

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:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HSDL2: view

No data available for Pathways by source and SIGNOR curated interactions for HSDL2 Gene

Drugs & Compounds for HSDL2 Gene

No Compound Related Data Available

Transcripts for HSDL2 Gene

mRNA/cDNA for HSDL2 Gene

15 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSDL2

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

Expression for HSDL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSDL2 Gene

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

This gene is overexpressed in Heart - Left Ventricle (x4.4) and Muscle - Skeletal (x4.2).

Protein differential expression in normal tissues from HIPED for HSDL2 Gene

This gene is overexpressed in Heart (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSDL2 Gene

Protein tissue co-expression partners for HSDL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSDL2

SOURCE GeneReport for Unigene cluster for HSDL2 Gene:


mRNA Expression by UniProt/SwissProt for HSDL2 Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for HSDL2 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Stomach(4.3)
  • Heart(3.1)
  • Kidney(2.5)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with HSDL2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSDL2 Gene

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
(Pan troglodytes)
Mammalia HSDL2 30 31
  • 99.52 (n)
(Canis familiaris)
Mammalia HSDL2 30 31
  • 90.67 (n)
(Bos Taurus)
Mammalia HSDL2 30 31
  • 89.47 (n)
(Rattus norvegicus)
Mammalia Hsdl2 30
  • 85.14 (n)
(Monodelphis domestica)
Mammalia HSDL2 31
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 81 (a)
-- 31
  • 61 (a)
(Mus musculus)
Mammalia Hsdl2 31
  • 74 (a)
(Gallus gallus)
Aves HSDL2 30 31
  • 73.04 (n)
(Anolis carolinensis)
Reptilia HSDL2 31
  • 69 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hsdl2 30
  • 71.54 (n)
Str.15284 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68498 30
(Danio rerio)
Actinopterygii hsdl2 30 31
  • 68.43 (n)
wufb58f08 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012513 30
  • 57.44 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5590 30 31
  • 57.15 (n)
(Caenorhabditis elegans)
Secernentea dhs-18 30 31
  • 60.48 (n)
dhs-6 31
  • 53 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8410 31
  • 56 (a)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00305 30
  • 45.07 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4883 30
Species where no ortholog for HSDL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Evolutionary constrained regions (ECRs) for HSDL2: view image

Paralogs for HSDL2 Gene

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

Variants for HSDL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSDL2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs3739696 Benign: not provided 112,454,041(+) A/G
NM_032303.5(HSDL2):c.894A>G (p.Lys298=)
rs41280175 Benign: not provided 112,405,714(+) A/T
NM_032303.5(HSDL2):c.272A>T (p.Lys91Ile)
rs77339398 Benign: not provided 112,409,029(+) T/C

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HSDL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1231n67 CNV gain 20364138
esv2678312 CNV deletion 23128226
esv32838 CNV gain 17666407
esv3621513 CNV loss 21293372
esv3621514 CNV loss 21293372
esv3621515 CNV loss 21293372
nsv1047919 CNV loss 25217958
nsv1051625 CNV loss 25217958
nsv466487 CNV loss 19166990
nsv511430 CNV loss 21212237
nsv615196 CNV loss 21841781
nsv6668 CNV insertion 18451855
nsv6669 CNV insertion 18451855
nsv825046 CNV gain 20364138

Variation tolerance for HSDL2 Gene

Residual Variation Intolerance Score: 26.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.41; 63.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSDL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

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

Disorders for HSDL2 Gene

Additional Disease Information for HSDL2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for HSDL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot 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 (Biochemical genetics 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 (The Journal of steroid biochemistry and molecular biology 2009) 3 4 23
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PMID: 20583170) Letra A … Vieira AR (American journal of medical genetics. Part A 2010) 3 41
  5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3

Products for HSDL2 Gene

Sources for HSDL2 Gene