Aliases for RDH16 Gene

Aliases for RDH16 Gene

  • Retinol Dehydrogenase 16 2 3 4 5
  • SDR9C8 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 9C, Member 8 2 3
  • Retinol Dehydrogenase 16 (All-Trans And 13-Cis) 2 3
  • Human Epidermal Retinol Dehydrogenase 3 4
  • Retinol Dehydrogenase 16 (All-Trans) 2 3
  • Sterol/Retinol Dehydrogenase 3 4
  • EC 1.1.1.105 4 51
  • RODH-4 2 3
  • HRDH-E 3 4
  • Short Chain Dehydrogenase/Reductase Family 9C Member 8 4
  • Microsomal NAD(+)-Dependent Retinol Dehydrogenase 4 4
  • Microsomal NAD+ Dependent Retinol Dehydrogenase 4 2
  • Microsomal NAD+-Dependent Retinol Dehydrogenase 4 3
  • EC 1.1.1.209 4
  • EC 1.1.1.315 4
  • EC 1.1.1.53 4
  • EC 1.1.1 51
  • RoDH-4 4
  • RDH16 5
  • RODH4 4

External Ids for RDH16 Gene

Previous GeneCards Identifiers for RDH16 Gene

  • GC12M055632
  • GC12M057346
  • GC12M054383

Summaries for RDH16 Gene

GeneCards Summary for RDH16 Gene

RDH16 (Retinol Dehydrogenase 16) is a Protein Coding gene. Diseases associated with RDH16 include Ainhum and Ras-Associated Autoimmune Leukoproliferative Disorder. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is HSD17B6.

UniProtKB/Swiss-Prot Summary for RDH16 Gene

  • Oxidoreductase with a preference for NAD. Oxidizes all-trans-retinol, 9-cis-retinol, 11-cis-retinol and 13-cis-retinol to the corresponding aldehydes (PubMed:10329026, PubMed:12534290, PubMed:9677409). Has higher activity towards CRBP-bound retinol than with free retinol (PubMed:12534290). Oxidizes also 3-alpha-hydroxysteroids. Oxidizes androstanediol and androsterone to dihydrotestosterone and androstanedione. Can also catalyze the reverse reaction (PubMed:10329026, PubMed:9677409, PubMed:29541409).

Additional gene information for RDH16 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RDH16 Gene

Genomics for RDH16 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RDH16 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
GH12J056957 Promoter/Enhancer 0.9 EPDnew Ensembl 600.7 +1.7 1674 0.2 FOXA1 SP1 FOXA2 YY1 GATA3 NFIB ZNF687 HNF4A RXRA MAX RDH16 piR-34657 LOC100420982 SDR9C7 NONHSAG011408.2 lnc-MYO1A-2
GH12J056768 Enhancer 0.7 FANTOM5 25.5 +190.7 190706 0.2 CEBPG GATAD2A FOXA1 SP1 CEBPA CEBPB CTBP1 FOXA2 YY1 ZBTB33 APOF HSD17B6 RDH16 SPRYD4 GLS2 GPR182 NACA MYO1A PAN2 piR-60246-040
GH12J056877 Enhancer 1 Ensembl ENCODE 10.9 +81.6 81574 4 GATAD2A LEF1 SOX13 IKZF1 JUND PKNOX1 NR2C1 ZNF24 SP1 DPF2 NONHSAG011408.2 piR-45471-120 RDH16 SDR9C7 GPR182 MYO1A ENSG00000270039 YWHAQP3 PRIM1 lnc-MYO1A-2
GH12J056990 Enhancer 1 Ensembl ENCODE 10.9 -32.0 -32027 2.4 IKZF1 PKNOX1 ZNF24 IKZF2 SP1 BRD9 ETV6 EP300 EED MGA NEMP1 RDH16 MYO1A SDR9C7 ENSG00000287715 GPR182 lnc-ZBTB39-2 lnc-MYO1A-2 NONHSAG011408.2
GH12J056987 Enhancer 1 ENCODE 11 -29.2 -29211 1.9 CTCF RFX1 LEF1 IKZF1 JUND ETV6 DDX20 PRDM1 ZNF143 MTA2 ENSG00000287715 BAZ2A NEMP1 MBD6 RN7SL809P PRIM1 ZC3H10 ZBTB39 MYO1A SDR9C7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RDH16 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RDH16

Top Transcription factor binding sites by QIAGEN in the RDH16 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • SRF
  • SRF (504 AA)
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • YY1

Genomic Locations for RDH16 Gene

Genomic Locations for RDH16 Gene
chr12:56,951,431-56,959,374
(GRCh38/hg38)
Size:
7,944 bases
Orientation:
Minus strand
chr12:57,345,215-57,353,158
(GRCh37/hg19)
Size:
7,944 bases
Orientation:
Minus strand

Genomic View for RDH16 Gene

Genes around RDH16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RDH16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RDH16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RDH16 Gene

Proteins for RDH16 Gene

  • Protein details for RDH16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75452-RDH16_HUMAN
    Recommended name:
    Retinol dehydrogenase 16
    Protein Accession:
    O75452
    Secondary Accessions:
    • Q9UNV2

    Protein attributes for RDH16 Gene

    Size:
    317 amino acids
    Molecular mass:
    35673 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for RDH16 Gene

Selected DME Specific Peptides for RDH16 Gene

O75452:
  • GLVNNAG
  • TGCDSGFG
  • GVEAFSD
  • RVLAACLTEKGAEQLR
  • EAFSDSLRR

Post-translational modifications for RDH16 Gene

Other Protein References for RDH16 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for RDH16 Gene

Gene Families for RDH16 Gene

Protein Domains for RDH16 Gene

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

Suggested Antigen Peptide Sequences for RDH16 Gene

GenScript: Design optimal peptide antigens:
  • Sterol/retinol dehydrogenase (RDH16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75452

UniProtKB/Swiss-Prot:

RDH16_HUMAN :
  • The C-terminal region plays a crucial role in controlling the activity of RDH16 and its required for endoplasmic reticulum (ER) retention.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Domain:
  • The C-terminal region plays a crucial role in controlling the activity of RDH16 and its required for endoplasmic reticulum (ER) retention.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with RDH16: view

Function for RDH16 Gene

Molecular function for RDH16 Gene

UniProtKB/Swiss-Prot Function:
Oxidoreductase with a preference for NAD. Oxidizes all-trans-retinol, 9-cis-retinol, 11-cis-retinol and 13-cis-retinol to the corresponding aldehydes (PubMed:10329026, PubMed:12534290, PubMed:9677409). Has higher activity towards CRBP-bound retinol than with free retinol (PubMed:12534290). Oxidizes also 3-alpha-hydroxysteroids. Oxidizes androstanediol and androsterone to dihydrotestosterone and androstanedione. Can also catalyze the reverse reaction (PubMed:10329026, PubMed:9677409, PubMed:29541409).
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; Evidence={ECO:0000269|PubMed:10329026, ECO:0000269|PubMed:12534290, ECO:0000269|PubMed:9677409};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=all-trans-retinol + NAD(+) = all-trans-retinal + H(+) + NADH; Xref=Rhea:RHEA:21284, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17898, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.105; Evidence={ECO:0000269|PubMed:10329026, ECO:0000269|PubMed:9677409};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=13-cis-retinol + NAD(+) = 13-cis-retinal + H(+) + NADH; Xref=Rhea:RHEA:42056, ChEBI:CHEBI:15378, ChEBI:CHEBI:45479, ChEBI:CHEBI:45487, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:9677409};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=11-cis-retinol + NAD(+) = 11-cis-retinal + H(+) + NADH; Xref=Rhea:RHEA:42060, ChEBI:CHEBI:15378, ChEBI:CHEBI:16066, ChEBI:CHEBI:16302, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.315; Evidence={ECO:0000250|UniProtKB:O54909};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=9-cis-retinol + NAD(+) = 9-cis-retinal + H(+) + NADH; Xref=Rhea:RHEA:42052, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78272, ChEBI:CHEBI:78273; Evidence={ECO:0000250|UniProtKB:O54909};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH; Xref=Rhea:RHEA:42004, ChEBI:CHEBI:15378, ChEBI:CHEBI:16330, ChEBI:CHEBI:36713, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.53; Evidence={ECO:0000269|PubMed:10329026, ECO:0000269|PubMed:9677409};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3alpha-hydroxy-5alpha-androstan-17-one + NAD(+) = 5alpha-androstan-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:20381, ChEBI:CHEBI:15378, ChEBI:CHEBI:15994, ChEBI:CHEBI:16032, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.209; Evidence={ECO:0000269|PubMed:12534290, ECO:0000269|PubMed:29541409, ECO:0000269|PubMed:9677409};.
UniProtKB/Swiss-Prot Induction:
Transiently up-regulated by retinoic acid.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.14 uM for 3alpha-hydroxy-5alpha-androstan-17-one (androsterone) {ECO:0000269|PubMed:12534290, ECO:0000269|PubMed:9677409}; KM=0.22 uM for 5alpha-androstane-3,17-dione (androstanediol) {ECO:0000269|PubMed:9677409}; KM=0.80 uM for 17beta-hydroxy-5alpha-androstan-3-one (dihydrotestosterone) {ECO:0000269|PubMed:9677409}; KM=0.13 uM for NAD {ECO:0000269|PubMed:9677409}; KM=190 uM for NADP {ECO:0000269|PubMed:9677409}; KM=5.8 uM for all-trans-retinol {ECO:0000269|PubMed:9677409}; KM=3.5 uM for 13-cis-retinol {ECO:0000269|PubMed:9677409}; KM=3.6 uM for CRBP-all-trans-retinol {ECO:0000269|PubMed:9677409};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by citral, perillyl alcohol, geraniol, farnesol and geranyl geraniol.

Enzyme Numbers (IUBMB) for RDH16 Gene

Phenotypes From GWAS Catalog for RDH16 Gene

Gene Ontology (GO) - Molecular Function for RDH16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004745 retinol dehydrogenase activity TAS,IDA 9677409
GO:0009055 electron transfer activity TAS 9677409
GO:0016491 oxidoreductase activity IEA --
GO:0042802 identical protein binding ISS --
GO:0047023 androsterone dehydrogenase activity IEA,IDA 9677409
genes like me logo Genes that share ontologies with RDH16: view
genes like me logo Genes that share phenotypes with RDH16: view

Animal Models for RDH16 Gene

MGI Knock Outs for RDH16:
  • Rdh9 Rdh9<tm1Jln>
  • Rdh1 Rdh1<tm1.1Jln>
  • Rdh16 Rdh16<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for RDH16 Gene

miRTarBase miRNAs that target RDH16

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RDH16

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RDH16 Gene

Localization for RDH16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RDH16 Gene

Microsome membrane. Endoplasmic reticulum membrane. Single-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 RDH16 gene
Compartment Confidence
endoplasmic reticulum 4
mitochondrion 3
extracellular 2
peroxisome 2
plasma membrane 1
cytoskeleton 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for RDH16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with RDH16: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RDH16 Gene

Pathways & Interactions for RDH16 Gene

genes like me logo Genes that share pathways with RDH16: view

Pathways by source for RDH16 Gene

UniProtKB/Swiss-Prot O75452-RDH16_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism.

Interacting Proteins for RDH16 Gene

Gene Ontology (GO) - Biological Process for RDH16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 9677409
GO:0008202 steroid metabolic process IEA,IDA 9677409
GO:0022900 electron transport chain IEA --
GO:0042572 retinol metabolic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with RDH16: view

No data available for SIGNOR curated interactions for RDH16 Gene

Drugs & Compounds for RDH16 Gene

(2) Drugs for RDH16 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
farnesol Experimental Pharma Inhibitor, Competitive 0
NAD Experimental Pharma Agonist, Full agonist, Activator 0

(2) Additional Compounds for RDH16 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
androstanediol
  • Androstane-3,17-diol
  • 3-a-Androstanediol
  • 3-alpha-Androstanediol
  • 3alpha-Androstanediol
  • 5 a-Androstane-3 a, 17 b-diol
25126-76-5
Androsterone
  • (3alpha,5alpha)-3-Hydroxyandrostan-17-one
  • 3-Epihydroxyetioallocholan-17-one
  • 3alpha-Hydroxy-5alpha-androstan-17-one
  • 3alpha-Hydroxyetioallocholan-17-one
  • 5alpha-Androstane-3alpha-ol-17-one
53-41-8
genes like me logo Genes that share compounds with RDH16: view

Transcripts for RDH16 Gene

mRNA/cDNA for RDH16 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 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 RDH16

Alternative Splicing Database (ASD) splice patterns (SP) for RDH16 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4
SP1:
SP2: -

Relevant External Links for RDH16 Gene

GeneLoc Exon Structure for
RDH16

Expression for RDH16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RDH16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RDH16 Gene

This gene is overexpressed in Liver (x47.6).

Protein differential expression in normal tissues from HIPED for RDH16 Gene

This gene is overexpressed in Gallbladder (43.4) and Liver (25.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RDH16 Gene



Protein tissue co-expression partners for RDH16 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RDH16

SOURCE GeneReport for Unigene cluster for RDH16 Gene:

Hs.134958

mRNA Expression by UniProt/SwissProt for RDH16 Gene:

O75452-RDH16_HUMAN
Tissue specificity: Highly expressed in adult liver (at protein level) (PubMed:9677409). Detected in endometrium, liver and foreskin (PubMed:10329026, PubMed:11967490). Detected in the spineous layers of adult skin, and at lower levels in basal and granular skin layers (PubMed:10329026). Detected in fetal liver and lung.

Evidence on tissue expression from TISSUES for RDH16 Gene

  • Liver(4.7)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with RDH16: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RDH16 Gene

Orthologs for RDH16 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RDH16 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RDH16 30 31
  • 99.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RDH16 30 31
  • 81.91 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RDH16 30 31
  • 80.86 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rdh1 30 17 31
  • 78.65 (n)
OneToMany
Rdh16 17 31
  • 73 (a)
OneToMany
Rdh7 31
  • 73 (a)
OneToMany
RP23-386P10.11 31
  • 73 (a)
OneToMany
Rdh9 17 31
  • 72 (a)
OneToMany
Rdh19 17 31
  • 71 (a)
OneToMany
BC089597 31
  • 69 (a)
OneToMany
Rdh16f2 17
Rat
(Rattus norvegicus)
Mammalia Rdh16 30
  • 78.02 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 67 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia RDH16 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC776432 30
  • 64.91 (n)
-- 31
  • 59 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 62 (a)
ManyToMany
-- 31
  • 62 (a)
ManyToMany
-- 31
  • 61 (a)
ManyToMany
-- 31
  • 61 (a)
ManyToMany
-- 31
  • 60 (a)
ManyToMany
-- 31
  • 59 (a)
ManyToMany
-- 31
  • 58 (a)
ManyToMany
-- 31
  • 56 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rdh16 30
  • 62.64 (n)
Zebrafish
(Danio rerio)
Actinopterygii dhrs9 30 31
  • 58.46 (n)
OneToMany
wufb64b07 30
Species where no ortholog for RDH16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for RDH16 Gene

ENSEMBL:
Gene Tree for RDH16 (if available)
TreeFam:
Gene Tree for RDH16 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RDH16: view image

Paralogs for RDH16 Gene

(8) SIMAP similar genes for RDH16 Gene using alignment to 1 proteins:

  • RDH16_HUMAN

Pseudogenes.org Pseudogenes for RDH16 Gene

genes like me logo Genes that share paralogs with RDH16: view

Variants for RDH16 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RDH16 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
776723 Benign: not provided 56,957,245(-) G/C MISSENSE_VARIANT
780148 Benign: not provided 56,952,967(-) AC/A NONSENSE

Additional dbSNP identifiers (rs#s) for RDH16 Gene

Structural Variations from Database of Genomic Variants (DGV) for RDH16 Gene

Variant ID Type Subtype PubMed ID
dgv2649n54 CNV loss 21841781
esv24053 CNV gain+loss 19812545
esv2760274 CNV gain 21179565
esv2761077 CNV loss 21179565
esv3580284 CNV loss 25503493
esv3581649 CNV gain 25503493
esv3629605 CNV loss 21293372
esv3629606 CNV gain 21293372
esv3892203 CNV gain+loss 25118596
nsv1043846 CNV gain 25217958
nsv1051116 CNV loss 25217958
nsv436148 CNV deletion 17901297
nsv482992 CNV gain+loss 15286789
nsv512276 CNV loss 21212237
nsv516039 CNV loss 19592680
nsv559020 CNV loss 21841781
nsv832428 CNV gain 17160897
nsv975650 CNV duplication 23825009

Variation tolerance for RDH16 Gene

Residual Variation Intolerance Score: 73.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RDH16 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RDH16

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RDH16 Gene

Disorders for RDH16 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RDH16 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ainhum
  • dactylolysis spontanea
ras-associated autoimmune leukoproliferative disorder
  • rald
- elite association - COSMIC cancer census association via MalaCards
Search RDH16 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with RDH16: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RDH16 Gene

Publications for RDH16 Gene

  1. cDNA cloning and characterization of a new human microsomal NAD+-dependent dehydrogenase that oxidizes all-trans-retinol and 3alpha-hydroxysteroids. (PMID: 9677409) Gough WH … Kedishvili NY (The Journal of biological chemistry 1998) 2 3 4 23
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 4
  3. Cloning and characterization of retinol dehydrogenase transcripts expressed in human epidermal keratinocytes. (PMID: 10329026) Jurukovski V … Simon M (Molecular genetics and metabolism 1999) 2 3 4
  4. Differential recognition of the free versus bound retinol by human microsomal retinol/sterol dehydrogenases: characterization of the holo-CRBP dehydrogenase activity of RoDH-4. (PMID: 12534290) Lapshina EA … Kedishvili NY (Biochemistry 2003) 3 4
  5. Expression of a retinol dehydrogenase (hRoDH-4), a member of the retinol/steroid dehydrogenase family implicated in retinoic acid biosynthesis, in normal and neoplastic endometria. (PMID: 11967490) Cain JM … Weisz J (American journal of obstetrics and gynecology 2002) 3 4

Products for RDH16 Gene

  • Signalway Proteins for RDH16

Sources for RDH16 Gene