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 1.1.1.100 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 DHRS4.

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
Score
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 645.1 -0.6 -564 4.8 RNF2 CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 LEF1 IKZF1 ZNF692 HSDL2 lnc-PTBP3-4 SUSD1 PTBP3 lnc-PTBP3-7
GH09J112485 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas 19.1 +109.6 109595 8.2 SP1 GATAD2A PRDM10 ZNF629 TFE3 RFX1 NFKBIZ ZNF692 POLR2A BACH1 C9orf147 KIAA1958 HSDL2 INIP ENSG00000226609 SNX30 piR-39663-002
GH09J112382 Enhancer 0.8 ENCODE 42.2 +2.9 2942 0.6 GATAD2A RCOR2 RXRB SP1 CEBPA SOX13 TCF7 ZKSCAN8 FOXA2 TEAD1 piR-57135-124 HSDL2 KIAA1958
GH09J112447 Enhancer 0.8 Ensembl ENCODE 37.3 +66.7 66692 3.6 IKZF1 PKNOX1 SCRT2 CEBPB NFE2 FOXK2 ZNF316 ZNF384 ZFP91 DPF2 HSDL2 KIAA1958 C9orf147 INIP ENSG00000226609 SNX30 SUSD1 piR-37775 piR-41306-268
GH09J112383 Enhancer 0.7 ENCODE 43.4 +5.0 4964 2.2 SOX13 ESR1 CTBP1 ZNF316 MAFF ESRRA MAFK MAFG FOXP1 SAP130 piR-57135-124 HSDL2 SUSD1 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-TF
  • COUP-TF1
  • ER-alpha
  • HNF-4alpha1
  • HNF-4alpha2
  • HSF1 (long)
  • HSF1short

Genomic Locations for HSDL2 Gene

Genomic Locations for HSDL2 Gene
chr9:112,379,909-112,472,410
(GRCh38/hg38)
Size:
92,502 bases
Orientation:
Plus strand
chr9:115,142,189-115,234,690
(GRCh37/hg19)
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

  • Ubiquitination at Lys49
  • Modification sites at PhosphoSitePlus

Other Protein References for HSDL2 Gene

Domains & Families for HSDL2 Gene

Gene Families for HSDL2 Gene

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

Protein Domains for HSDL2 Gene

InterPro:
Blocks:
  • Short-chain dehydrogenase/reductase SDR
  • Glucose/ribitol dehydrogenase family signature
  • Sterol-binding
ProtoNet:

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

Q6YN16

UniProtKB/Swiss-Prot:

HSDL2_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • 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

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
mitochondrion 5
peroxisome 5
cytosol 2
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 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

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

CRISPR Products

Inhibitory RNA Products

  • 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: - - -
SP6:

Relevant External Links for HSDL2 Gene

GeneLoc Exon Structure 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, 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:

Hs.59486

mRNA Expression by UniProt/SwissProt for HSDL2 Gene:

Q6YN16-HSDL2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for HSDL2 Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Stomach(4.3)
  • Heart(3.2)
  • Kidney(2.6)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with HSDL2: view

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
Chimpanzee
(Pan troglodytes)
Mammalia HSDL2 30 31
  • 99.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HSDL2 30 31
  • 90.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HSDL2 30 31
  • 89.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hsdl2 30
  • 85.14 (n)
Oppossum
(Monodelphis domestica)
Mammalia HSDL2 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 81 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Hsdl2 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HSDL2 30 31
  • 73.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HSDL2 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hsdl2 30
  • 71.54 (n)
Str.15284 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68498 30
Zebrafish
(Danio rerio)
Actinopterygii hsdl2 30 31
  • 68.43 (n)
OneToOne
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)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea dhs-18 30 31
  • 60.48 (n)
OneToMany
dhs-6 31
  • 53 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8410 31
  • 56 (a)
OneToOne
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

ENSEMBL:
Gene Tree for HSDL2 (if available)
TreeFam:
Gene Tree for HSDL2 (if available)
Aminode:
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
715507 Benign: not provided 112,454,041(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
770752 Benign: not provided 112,405,714(+) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
781186 Benign: not provided 112,409,029(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HSDL2 Gene

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
HSDL2

SNP Genotyping and Copy Number Assay Products

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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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

  • Signalway Proteins for HSDL2

Sources for HSDL2 Gene