SDR9C7 Gene (Protein Coding)

Short Chain Dehydrogenase/Reductase Family 9C Member 7

GC12M056923
GIFtS:
38
This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010] See more...

Aliases for SDR9C7 Gene

Aliases for SDR9C7 Gene

  • Short Chain Dehydrogenase/Reductase Family 9C Member 7 2 3 5
  • SDR-O 2 3 4
  • RDHS 2 3 4
  • Short-Chain Dehydrogenase/Reductase Family 9C Member 7 3 4
  • Orphan Short-Chain Dehydrogenase/Reductase 3 4
  • RDH-S 3 4
  • SDRO 3 4
  • Short Chain Dehydrogenase/Reductase Family 9C, Member 7 2
  • Orphan Short-Chain Dehydrogenase / Reductase 3
  • Retinol Dehydrogenase Similar Protein 3
  • EC 1.1.1.- 4
  • EC 1.1.1 51
  • ARCI13 3
  • SDR9C7 5

External Ids for SDR9C7 Gene

Previous GeneCards Identifiers for SDR9C7 Gene

  • GC12M055604
  • GC12M057316
  • GC12M054355

Summaries for SDR9C7 Gene

Entrez Gene Summary for SDR9C7 Gene

  • This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]

GeneCards Summary for SDR9C7 Gene

SDR9C7 (Short Chain Dehydrogenase/Reductase Family 9C Member 7) is a Protein Coding gene. Diseases associated with SDR9C7 include Ichthyosis, Congenital, Autosomal Recessive 13 and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Signaling by GPCR and the visual cycle I (vertebrates). Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is RDH16.

UniProtKB/Swiss-Prot Summary for SDR9C7 Gene

  • Displays weak conversion of all-trans-retinal to all-trans-retinol in the presence of NADH. Has apparently no steroid dehydrogenase activity.

Additional gene information for SDR9C7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SDR9C7 Gene

Genomics for SDR9C7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SDR9C7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SDR9C7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SDR9C7

Top Transcription factor binding sites by QIAGEN in the SDR9C7 gene promoter:
  • AP-1
  • AP-2alpha
  • c-Fos
  • c-Jun
  • FOXO4
  • HNF-1
  • HNF-1A
  • Ik-2
  • p53
  • Pax-5

Genomic Locations for SDR9C7 Gene

Latest Assembly
chr12:56,923,133-56,934,408
(GRCh38/hg38)
Size:
11,276 bases
Orientation:
Minus strand

Previous Assembly
chr12:57,316,917-57,328,192
(GRCh37/hg19 by Entrez Gene)
Size:
11,276 bases
Orientation:
Minus strand

chr12:57,316,938-57,328,189
(GRCh37/hg19 by Ensembl)
Size:
11,252 bases
Orientation:
Minus strand

Genomic View for SDR9C7 Gene

Genes around SDR9C7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDR9C7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDR9C7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SDR9C7 Gene

Proteins for SDR9C7 Gene

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  • Protein details for SDR9C7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEX9-DR9C7_HUMAN
    Recommended name:
    Short-chain dehydrogenase/reductase family 9C member 7
    Protein Accession:
    Q8NEX9
    Secondary Accessions:
    • B3KVB4

    Protein attributes for SDR9C7 Gene

    Size:
    313 amino acids
    Molecular mass:
    35263 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SDR9C7 Gene

Protein Expression for SDR9C7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for SDR9C7 Gene

Q8NEX9:
  • GVEAFSD
  • TGCDSGFG

Post-translational modifications for SDR9C7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SDR9C7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SDR9C7 Gene

Gene Families for SDR9C7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SDR9C7 Gene

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

Suggested Antigen Peptide Sequences for SDR9C7 Gene

GenScript: Design optimal peptide antigens:
  • RDH-S (DR9C7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NEX9

UniProtKB/Swiss-Prot:

DR9C7_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 SDR9C7: view

Function for SDR9C7 Gene

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  6. Cell Lines for research

Molecular function for SDR9C7 Gene

UniProtKB/Swiss-Prot Function:
Displays weak conversion of all-trans-retinal to all-trans-retinol in the presence of NADH. Has apparently no steroid dehydrogenase activity.

Enzyme Numbers (IUBMB) for SDR9C7 Gene

Phenotypes From GWAS Catalog for SDR9C7 Gene

Gene Ontology (GO) - Molecular Function for SDR9C7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004745 retinol dehydrogenase activity IDA 19703561
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with SDR9C7: view
genes like me logo Genes that share phenotypes with SDR9C7: view

Human Phenotype Ontology for SDR9C7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for SDR9C7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDR9C7

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for SDR9C7 Gene

Localization for SDR9C7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDR9C7 Gene

Cytoplasm. Note=Granular distribution in the whole cell.

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 SDR9C7 gene
Compartment Confidence
cytosol 4
mitochondrion 3
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SDR9C7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SDR9C7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SDR9C7 Gene

Pathways & Interactions for SDR9C7 Gene

genes like me logo Genes that share pathways with SDR9C7: view

Pathways by source for SDR9C7 Gene

Gene Ontology (GO) - Biological Process for SDR9C7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IDA --
genes like me logo Genes that share ontologies with SDR9C7: view

No data available for SIGNOR curated interactions for SDR9C7 Gene

Drugs & Compounds for SDR9C7 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for SDR9C7 Gene

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mRNA/cDNA for SDR9C7 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDR9C7

Alternative Splicing Database (ASD) splice patterns (SP) for SDR9C7 Gene

No ASD Table

Relevant External Links for SDR9C7 Gene

GeneLoc Exon Structure for
SDR9C7

Expression for SDR9C7 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SDR9C7 Gene

mRNA expression in normal human tissues for SDR9C7 Gene
mRNA expression by GTEx for SDR9C7 GenemRNA expression by BioGPS for SDR9C7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SDR9C7 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x17.8), Skin - Not Sun Exposed (Suprapubic) (x15.4), Vagina (x7.0), and Esophagus - Mucosa (x4.6).

Protein differential expression in normal tissues from HIPED for SDR9C7 Gene

This gene is overexpressed in Cervix (67.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SDR9C7 Gene



Protein tissue co-expression partners for SDR9C7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SDR9C7

SOURCE GeneReport for Unigene cluster for SDR9C7 Gene:

Hs.380178

mRNA Expression by UniProt/SwissProt for SDR9C7 Gene:

Q8NEX9-DR9C7_HUMAN
Tissue specificity: Expressed in the skin (PubMed:28173123). Expressed in granular and cornified layers of the epidermis (at protein level) (PubMed:28173123). Highly expressed in liver (PubMed:12234675).

Evidence on tissue expression from TISSUES for SDR9C7 Gene

  • Liver(4.3)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with SDR9C7: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SDR9C7 Gene

Orthologs for SDR9C7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SDR9C7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SDR9C7 30 31
  • 99.36 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SDR9C7 30 31
  • 89.56 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SDR9C7 30 31
  • 89.03 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Sdr9c7 30 17 31
  • 83.6 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Sdr9c7 30
  • 83.17 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia SDR9C7 31
  • 76 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 51 (a)
 ManyToMany
Zebrafish
(Danio rerio)
 Actinopterygii dhrs9 31
  • 45 (a)
 OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.691 30
Species where no ortholog for SDR9C7 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)
  • Chicken (Gallus gallus)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SDR9C7 Gene

ENSEMBL:
Gene Tree for SDR9C7 (if available)
TreeFam:
Gene Tree for SDR9C7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SDR9C7: view image

Paralogs for SDR9C7 Gene

Paralogs for SDR9C7 Gene

(7) SIMAP similar genes for SDR9C7 Gene using alignment to 1 proteins:

  • DR9C7_HUMAN
genes like me logo Genes that share paralogs with SDR9C7: view

Variants for SDR9C7 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SDR9C7 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs138435128 Pathogenic: Ichthyosis, congenital, autosomal recessive 13; not provided 56,930,235(-) T/C
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) 		MISSENSE
rs147081896 Likely Benign: not provided 56,929,412(-) G/A
NM_148897.3(SDR9C7):c.702C>T (p.Tyr234=) 		SYNONYMOUS
rs530109812 Pathogenic: Ichthyosis, congenital, autosomal recessive 13. Ichthyosis, congenital, autosomal recessive 13 (ARCI13) [MIM:617574] 56,934,048(-) G/Ap.Arg72Trp
NM_148897.3(SDR9C7):c.214C>T (p.Arg72Trp) 		MISSENSE
rs538068583 Likely Pathogenic: Congenital ichthyosis of skin 56,930,431(-) C/T
NM_148897.3(SDR9C7):c.355G>A (p.Glu119Lys) 		MISSENSE
rs749359344 Uncertain Significance: not provided 56,934,261(-) T/C
NM_148897.3(SDR9C7):c.1A>G (p.Met1Val) 		INITIATIOR_CODON_VARIANT,MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SDR9C7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SDR9C7 Gene

Variant ID Type Subtype PubMed ID
nsv1043846 CNV gain 25217958
nsv438213 CNV loss 16468122
nsv482992 CNV gain+loss 15286789

Variation tolerance for SDR9C7 Gene

Residual Variation Intolerance Score: 43.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.31; 53.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SDR9C7 Gene

Human Gene Mutation Database (HGMD)
SDR9C7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SDR9C7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDR9C7 Gene

Disorders for SDR9C7 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SDR9C7 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DR9C7_HUMAN
  • Ichthyosis, congenital, autosomal recessive 13 (ARCI13) [MIM:617574]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:28173123}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SDR9C7

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SDR9C7: view

No data available for Genatlas for SDR9C7 Gene

Publications for SDR9C7 Gene

  1. SDR-O: an orphan short-chain dehydrogenase/reductase localized at mouse chromosome 10/human chromosome 12. (PMID: 12234675) Chen W … Napoli JL (Gene 2002) 2 3 4 23
  2. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. (PMID: 28173123) Shigehara Y … Shimomura Y (Human molecular genetics 2016) 3 4 74
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 4
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

ExternalLinks

View latest publications for SDR9C7 gene in Mastermind

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