This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-tr... See more...

Aliases for SDR16C5 Gene

Aliases for SDR16C5 Gene

  • Short Chain Dehydrogenase/Reductase Family 16C Member 5 2 3 5
  • Epidermal Retinol Dehydrogenase 2 2 3 4
  • Retinal Short-Chain Dehydrogenase Reductase 2 3 4
  • RetSDR2 3 4
  • EPHD-2 3 4
  • RDH-E2 3 4
  • RDHE2 3 4
  • Short Chain Dehydrogenase/Reductase Family 16C, Member 5 2
  • Short-Chain Dehydrogenase/Reductase Family 16C Member 5 4
  • Retinal Short Chain Dehydrogenase Reductase 3
  • Epidermal Retinal Dehydrogenase 2 3
  • EC 1.1.1.105 4
  • RDH#2 3

External Ids for SDR16C5 Gene

Previous GeneCards Identifiers for SDR16C5 Gene

  • GC08M057376
  • GC08M057212
  • GC08M052679

Summaries for SDR16C5 Gene

Entrez Gene Summary for SDR16C5 Gene

  • This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for SDR16C5 Gene

SDR16C5 (Short Chain Dehydrogenase/Reductase Family 16C Member 5) is a Protein Coding gene. Diseases associated with SDR16C5 include Siberian Tick Typhus and Psoriasis. Among its related pathways are Drug metabolism - cytochrome P450 and Signaling by Retinoic Acid. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is RDH10.

UniProtKB/Swiss-Prot Summary for SDR16C5 Gene

  • Oxidoreductase with strong preference for NAD. Active in both the oxidative and reductive directions. Oxidizes all-trans-retinol in all-trans-retinaldehyde. No activity was detected with 11-cis-retinol or 11-cis-retinaldehyde as substrates with either NAD(+)/NADH or NADP(+)/NADPH.

Additional gene information for SDR16C5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SDR16C5 Gene

Genomics for SDR16C5 Gene

GeneHancer (GH) Regulatory Elements for SDR16C5 Gene

Promoters and enhancers for SDR16C5 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
GH08J056319 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500.7 +0.3 335 2.1 ZNF217 POLR2A KLF4 EP300 CTCF CEBPB STAT3 MAX TAF15 RFX5 SDR16C5 piR-50308-615
GH08J056323 Enhancer 0.2 Ensembl 500.7 -1.5 -1525 0.2 SDR16C5 piR-48553-310
GH08J056270 Enhancer 0.7 Ensembl 10.8 +49.7 49675 0.2 FOS EP300 CTBP1 CEBPB CHD2 RCOR1 JUND FOXA1 MAX DPF2 piR-43408-226 piR-41399-461 piR-45471-587 piR-45504-524 piR-31162-483 piR-36260-076 piR-59409-084 piR-50308-615 piR-43097-071 piR-56759-548
GH08J056292 Enhancer 0.3 Ensembl ENCODE 12.5 +27.4 27447 1.5 SDR16C5 piR-50308-615
GH08J056447 Enhancer 0.7 FANTOM5 1.6 -127.3 -127337 0.5 CTCF RAD21 SMC3 GABPB1 ZNF654 FOXP2 SIN3A SMARCA4 ZNF48 ZNF580 PENK lnc-SDR16C5-2 SDR16C5 ENSG00000254254 LOC101929415 lnc-CHCHD7-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SDR16C5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SDR16C5

Top Transcription factor binding sites by QIAGEN in the SDR16C5 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • FosB
  • FOXF2
  • Fra-1
  • JunB
  • JunD
  • POU2F1
  • POU2F1a

Genomic Locations for SDR16C5 Gene

Genomic Locations for SDR16C5 Gene
chr8:56,300,010-56,320,776
(GRCh38/hg38)
Size:
20,767 bases
Orientation:
Minus strand
chr8:57,212,569-57,233,335
(GRCh37/hg19)
Size:
20,767 bases
Orientation:
Minus strand

Genomic View for SDR16C5 Gene

Genes around SDR16C5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDR16C5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDR16C5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SDR16C5 Gene

Proteins for SDR16C5 Gene

  • Protein details for SDR16C5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3Y7-RDHE2_HUMAN
    Recommended name:
    Epidermal retinol dehydrogenase 2
    Protein Accession:
    Q8N3Y7
    Secondary Accessions:
    • B4DGK2
    • Q330K3
    • Q8TDV9
    • Q96LX1

    Protein attributes for SDR16C5 Gene

    Size:
    309 amino acids
    Molecular mass:
    34095 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71545.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for SDR16C5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SDR16C5 Gene

Post-translational modifications for SDR16C5 Gene

No Post-translational modifications

Other Protein References for SDR16C5 Gene

No data available for DME Specific Peptides for SDR16C5 Gene

Domains & Families for SDR16C5 Gene

Gene Families for SDR16C5 Gene

Protein Domains for SDR16C5 Gene

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

Suggested Antigen Peptide Sequences for SDR16C5 Gene

GenScript: Design optimal peptide antigens:
  • Short-chain dehydrogenase/reductase family 16C member 5 (RDHE2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N3Y7

UniProtKB/Swiss-Prot:

RDHE2_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 SDR16C5: view

Function for SDR16C5 Gene

Molecular function for SDR16C5 Gene

UniProtKB/Swiss-Prot Function:
Oxidoreductase with strong preference for NAD. Active in both the oxidative and reductive directions. Oxidizes all-trans-retinol in all-trans-retinaldehyde. No activity was detected with 11-cis-retinol or 11-cis-retinaldehyde as substrates with either NAD(+)/NADH or NADP(+)/NADPH.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=all-trans-retinol--[retinol-binding protein] + NAD(+) = all-trans-retinal--[retinol-binding protein] + H(+) + NADH; Xref=Rhea:RHEA:48488, Rhea:RHEA-COMP:14428, Rhea:RHEA-COMP:14430, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17898, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:83228; EC=1.1.1.105;.

Enzyme Numbers (IUBMB) for SDR16C5 Gene

Phenotypes From GWAS Catalog for SDR16C5 Gene

Gene Ontology (GO) - Molecular Function for SDR16C5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IDA 16691198
GO:0004745 retinol dehydrogenase activity IDA,IEA 18926804
GO:0008134 transcription factor binding IPI 16691198
GO:0016491 oxidoreductase activity IEA --
GO:0033613 activating transcription factor binding IPI 16691198
genes like me logo Genes that share ontologies with SDR16C5: view
genes like me logo Genes that share phenotypes with SDR16C5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDR16C5

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SDR16C5 Gene

Localization for SDR16C5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDR16C5 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 SDR16C5 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 4
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
cytosol 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for SDR16C5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 colocalizes_with chromatin IDA 16691198
GO:0005634 nucleus IDA 16691198
GO:0005783 colocalizes_with endoplasmic reticulum IDA 16691198
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid droplet IBA 21873635
genes like me logo Genes that share ontologies with SDR16C5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SDR16C5 Gene

Pathways & Interactions for SDR16C5 Gene

genes like me logo Genes that share pathways with SDR16C5: view

Pathways by source for SDR16C5 Gene

1 KEGG pathway for SDR16C5 Gene

UniProtKB/Swiss-Prot Q8N3Y7-RDHE2_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism.

Gene Ontology (GO) - Biological Process for SDR16C5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 16691198
GO:0031065 positive regulation of histone deacetylation IDA 16691198
GO:0035067 negative regulation of histone acetylation IDA 16691198
GO:0042572 retinol metabolic process IBA,IEA --
GO:0042574 retinal metabolic process IBA,IDA 18926804
genes like me logo Genes that share ontologies with SDR16C5: view

No data available for SIGNOR curated interactions for SDR16C5 Gene

Drugs & Compounds for SDR16C5 Gene

(3) Drugs for SDR16C5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra 0
Vitamin A Approved, Vet_approved Nutra 658
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(2) Additional Compounds for SDR16C5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
Retinal
  • (13cis)-Retinal
  • (2Z,4E,6E,8E)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenal
  • 13-cis-Retinaldehyde
  • RETINAL
  • 13Z-Retinal
116-31-4, 564-87-4
genes like me logo Genes that share compounds with SDR16C5: view

Transcripts for SDR16C5 Gene

mRNA/cDNA for SDR16C5 Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 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 SDR16C5

Alternative Splicing Database (ASD) splice patterns (SP) for SDR16C5 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: -
SP3: - -

Relevant External Links for SDR16C5 Gene

GeneLoc Exon Structure for
SDR16C5

Expression for SDR16C5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SDR16C5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SDR16C5 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x9.9), Esophagus - Mucosa (x9.2), Skin - Not Sun Exposed (Suprapubic) (x8.4), and Lung (x7.9).

Protein differential expression in normal tissues from HIPED for SDR16C5 Gene

This gene is overexpressed in Nasal epithelium (35.3) and Cervix (23.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SDR16C5 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SDR16C5

SOURCE GeneReport for Unigene cluster for SDR16C5 Gene:

Hs.170673

mRNA Expression by UniProt/SwissProt for SDR16C5 Gene:

Q8N3Y7-RDHE2_HUMAN
Tissue specificity: Detected in adult lung. Detected at low levels in adult brain, heart, testis, placenta, cervix, pancreas, uterus, stomach, rectum, small intestine, colon, esophagus, thymus, skin, and skin keratinocyte. Expression is higher in psoriasis lesions relative to unaffected skin from psoriasis patients. Detected in fetal kidney, skin and lung.

Evidence on tissue expression from TISSUES for SDR16C5 Gene

  • Skin(4.4)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SDR16C5: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SDR16C5 Gene

Orthologs for SDR16C5 Gene

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

Orthologs for SDR16C5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SDR16C5 31 30
  • 99.78 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sdr16c5 30
  • 83.44 (n)
cow
(Bos Taurus)
Mammalia SDR16C5 31 30
  • 82.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sdr16c5 17 31 30
  • 82.36 (n)
dog
(Canis familiaris)
Mammalia SDR16C5 31 30
  • 82.03 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SDR16C5 31
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SDR16C5 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SDR16C5 31 30
  • 64.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 52 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
-- 31
  • 47 (a)
OneToMany
-- 31
  • 46 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sdr16c5 30
  • 64.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29444 30
zebrafish
(Danio rerio)
Actinopterygii sdr16c5b 30
  • 61.51 (n)
SDR16C5 31
  • 44 (a)
OneToOne
Dr.26431 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5426 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010232 30
  • 53.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9265 31 30
  • 52.92 (n)
ManyToMany
CG15629 31
  • 35 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dhs-19 31 30
  • 58.39 (n)
OneToMany
dhs-3 31
  • 46 (a)
OneToMany
dhs-4 31
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 24 (a)
ManyToMany
TDA5 31
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5456 31
  • 46 (a)
OneToOne
Cin.12306 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12306 30
Species where no ortholog for SDR16C5 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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 SDR16C5 Gene

ENSEMBL:
Gene Tree for SDR16C5 (if available)
TreeFam:
Gene Tree for SDR16C5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SDR16C5: view image

Paralogs for SDR16C5 Gene

(4) SIMAP similar genes for SDR16C5 Gene using alignment to 2 proteins:

  • RDHE2_HUMAN
  • G3V145_HUMAN

Pseudogenes.org Pseudogenes for SDR16C5 Gene

genes like me logo Genes that share paralogs with SDR16C5: view

Variants for SDR16C5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SDR16C5 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs4151643 - p.Arg62Trp

Additional dbSNP identifiers (rs#s) for SDR16C5 Gene

Structural Variations from Database of Genomic Variants (DGV) for SDR16C5 Gene

Variant ID Type Subtype PubMed ID
esv2737024 CNV deletion 23290073

Variation tolerance for SDR16C5 Gene

Residual Variation Intolerance Score: 20% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SDR16C5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SDR16C5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDR16C5 Gene

Disorders for SDR16C5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SDR16C5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
siberian tick typhus
  • manchurian typhus
psoriasis
borjeson-forssman-lehmann syndrome
  • bfls
coffin-siris syndrome 1
  • css1
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SDR16C5

genes like me logo Genes that share disorders with SDR16C5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SDR16C5 Gene

Publications for SDR16C5 Gene

  1. Identification of the hRDH-E2 gene, a novel member of the SDR family, and its increased expression in psoriatic lesion. (PMID: 12372410) Matsuzaka Y … Inoko H (Biochemical and biophysical research communications 2002) 2 3 4 23 54
  2. Biochemical characterization of human epidermal retinol dehydrogenase 2. (PMID: 18926804) Lee SA … Kedishvili NY (Chemico-biological interactions 2009) 3 4 23 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. hRDH-E2 gene polymorphisms, variable transcriptional start sites, and psoriasis. (PMID: 15457346) Matsuzaka Y … Inoko H (Mammalian genome : official journal of the International Mammalian Genome Society 2004) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for SDR16C5 Gene

Sources for SDR16C5 Gene