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Aliases for HSDL2 Gene

Aliases for HSDL2 Gene

  • Hydroxysteroid Dehydrogenase Like 2 2 3 5
  • 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
  • Chromosome 9 Open Reading Frame 99 2
  • EC 1.1.1.100 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.

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

Enhancers for HSDL2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HSDL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for HSDL2 Gene

Chromosome:
9
Start:
112,379,909 bp from pter
End:
112,472,410 bp from pter
Size:
92,502 bases
Orientation:
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:
    Q6YN16-HSDL2_HUMAN
    Recommended name:
    Hydroxysteroid dehydrogenase-like protein 2
    Protein Accession:
    Q6YN16
    Secondary Accessions:
    • A8K1L4
    • A8K8X1
    • A8MSV3
    • Q658M8
    • Q9BT58

    Protein attributes for HSDL2 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSDL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for HSDL2 Gene

Gene Families for HSDL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6YN16

UniProtKB/Swiss-Prot:

HSDL2_HUMAN :
  • Contains 1 SCP2 domain.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Domain:
  • Contains 1 SCP2 domain.
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

Gene Ontology (GO) - Molecular Function for HSDL2 Gene

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

Animal Model Products

miRNA for HSDL2 Gene

miRTarBase miRNAs that target 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

Peroxisome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSDL2 Gene COMPARTMENTS Subcellular localization image for HSDL2 gene
Compartment Confidence
peroxisome 5
mitochondrion 4
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
genes like me logo Genes that share ontologies with HSDL2: view

Pathways & Interactions 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:0008152 metabolic 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

Unigene Clusters for HSDL2 Gene

Hydroxysteroid dehydrogenase like 2:
Representative Sequences:

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: - - -
SP6:

Relevant External Links for HSDL2 Gene

GeneLoc Exon Structure for
HSDL2
ECgene alternative splicing isoforms for
HSDL2

Expression for HSDL2 Gene

mRNA expression in normal human tissues 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, 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

Q6YN16-HSDL2_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with HSDL2: view

Protein tissue co-expression partners for HSDL2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia HSDL2 35
  • 89.47 (n)
  • 89.23 (a)
HSDL2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSDL2 35
  • 90.67 (n)
  • 88.28 (a)
HSDL2 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HSDL2 35
  • 99.52 (n)
  • 100 (a)
HSDL2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsdl2 35
  • 85.14 (n)
  • 86.08 (a)
oppossum
(Monodelphis domestica)
Mammalia HSDL2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsdl2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves HSDL2 35
  • 73.04 (n)
  • 73.12 (a)
HSDL2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSDL2 36
  • 69 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii hsdl2 35
  • 68.43 (n)
  • 70.36 (a)
wufb58f08 35
hsdl2 36
  • 69 (a)
OneToOne
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)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dhs-18 35
  • 60.48 (n)
  • 65.45 (a)
dhs-18 36
  • 61 (a)
OneToMany
dhs-6 36
  • 53 (a)
OneToMany
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)
OneToOne
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

ENSEMBL:
Gene Tree for HSDL2 (if available)
TreeFam:
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
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
rs950267 -- 112,421,556(-) TTTTT(A/T)TAAAT intron-variant
rs7469234 -- 112,467,529(+) tgcca(A/C)taaat 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

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for HSDL2 Gene

Disorders for HSDL2 Gene

Relevant External Links for HSDL2

Genetic Association Database (GAD)
HSDL2
Human Genome Epidemiology (HuGE) Navigator
HSDL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSDL2

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. (Biochem. Genet. 2003) 2 3 4 23 67
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  3. 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 23
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for HSDL2 Gene

Sources for HSDL2 Gene

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