Free for academic non-profit institutions. Other users need a Commercial license

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 2
  • Hydroxysteroid Dehydrogenase-Like Protein 2 3
  • Chromosome 9 Open Reading Frame 99 2
  • EC 1.1.1.100 61
  • EC 1.-.-.- 4
  • EC 1.1.1 61

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. An important paralog of this gene is SCP2.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F112376 1.1 ENCODE 45.2 -0.6 -565 4.8 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 HSDL2 PRPF4 UGCG FKBP15 SUSD1 PTBP3 GC09M112376 RPL32P22
GH09F112383 1 Ensembl ENCODE 43.5 +4.9 4869 2.4 SOX13 PKNOX1 ESRRA SAP130 FEZF1 THRB RARA ZNF121 ZNF316 CTBP1 HSDL2 SUSD1 PIR60820
GH09F112445 1 Ensembl ENCODE 35.1 +66.8 66793 2.2 PKNOX1 FEZF1 BMI1 ZNF316 FOXK2 POLR2A SCRT2 EED NFE2 ETV6 HSDL2 C9orf147 KIAA1958 INIP ENSG00000226609 SNX30 PIR60820
GH09F112382 0.8 ENCODE 42.3 +2.9 2942 0.6 SOX13 SAP130 ARID4B CEBPG RARA TEAD3 RERE NR2F6 CREM MIXL1 HSDL2 PIR60820
GH09F112485 1.1 ENCODE 19.1 +107.3 107329 2.6 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207 HSDL2 C9orf147 KIAA1958
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Selected DME Specific Peptides for HSDL2 Gene

Q6YN16:
  • TGASRGIG
  • SRGIGKA

Post-translational modifications for HSDL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSDL2 Gene

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 --
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

Animal Model Products

miRNA for HSDL2 Gene

miRTarBase miRNAs that target HSDL2

Inhibitory RNA Products

Flow Cytometry Products

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
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
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 IEA,IDA 19703561
GO:0016020 membrane IDA 19946888
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: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

Transcripts for HSDL2 Gene

Unigene Clusters for HSDL2 Gene

Hydroxysteroid dehydrogenase like 2:
Representative Sequences:

Inhibitory RNA 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: - - -
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 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, PaxDb, MaxQB, and MOPED for HSDL2 Gene



Protein tissue co-expression partners for HSDL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSDL2 Gene:

HSDL2

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

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
chimpanzee
(Pan troglodytes)
Mammalia HSDL2 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia HSDL2 34 35
  • 90.67 (n)
cow
(Bos Taurus)
Mammalia HSDL2 34 35
  • 89.47 (n)
rat
(Rattus norvegicus)
Mammalia Hsdl2 34
  • 85.14 (n)
oppossum
(Monodelphis domestica)
Mammalia HSDL2 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 81 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Hsdl2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSDL2 34 35
  • 73.04 (n)
lizard
(Anolis carolinensis)
Reptilia HSDL2 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsdl2 34
  • 71.54 (n)
Str.15284 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68498 34
zebrafish
(Danio rerio)
Actinopterygii hsdl2 34 35
  • 68.43 (n)
wufb58f08 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012513 34
  • 57.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5590 34 35
  • 57.15 (n)
worm
(Caenorhabditis elegans)
Secernentea dhs-18 34 35
  • 60.48 (n)
dhs-6 35
  • 53 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8410 35
  • 56 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00305 34
  • 45.07 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4883 34
Species where no ortholog for HSDL2 was found in the sources mined by GeneCards:
  • 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

Paralogs for HSDL2 Gene

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

Variants for HSDL2 Gene

Sequence variations from dbSNP and Humsavar for HSDL2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10114856 -- 112,465,465(+) TGACA(A/T)TTAAT intron-variant
rs10114968 -- 112,467,947(+) CTTCA(A/T)TTTGG intron-variant
rs10115837 -- 112,378,777(+) TAATA(A/T)TTTGC upstream-variant-2KB
rs10115884 -- 112,378,917(+) CGCGG(A/C)GGCTC upstream-variant-2KB
rs10116486 -- 112,391,899(+) AAAAA(A/G)AAAAG intron-variant

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
nsv825046 CNV gain 20364138
nsv6669 CNV insertion 18451855

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)

Relevant External Links for HSDL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSDL2

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)
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 22 64
  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 22 64
  3. 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 46 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3 64

Products for HSDL2 Gene

Sources for HSDL2 Gene

Content
Loading form....