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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
External Ids for SDR9C7 Gene
- HGNC: 29958
- Entrez Gene: 121214
- Ensembl: ENSG00000170426
- OMIM: 609769
- UniProtKB: Q8NEX9
Previous GeneCards Identifiers for SDR9C7 Gene
- GC12M055604
- GC12M057316
- GC12M054355
Summaries 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 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 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
- HGNC(29958)
- Entrez Gene(121214)
- Ensembl(ENSG00000170426)
- OMIM(609769)
- UniProtKB(Q8NEX9)
- Open Targets Platform(ENSG00000170426)
- Monarch Initiative
- Search for SDR9C7 at DataMed
- Search for SDR9C7 at HumanCyc
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
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
Genomic Locations for SDR9C7 Gene
- chr12:56,923,133-56,934,408
- (GRCh38/hg38)
- Size:
- 11,276 bases
- Orientation:
- Minus strand
- chr12:57,316,938-57,328,189
- (GRCh37/hg19)
- 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:
-
- 12q13.3 by HGNC
- 12q13.3 by Entrez Gene
- 12q13.3 by Ensembl
SDR9C7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SDR9C7 Gene
Proteins for SDR9C7 Gene
-
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
- B3KVB4
Protein attributes for SDR9C7 Gene
- Size:
- 313 amino acids
- Molecular mass:
- 35263 Da
- Quaternary structure:
- No Data Available
Protein Expression for SDR9C7 Gene
Selected DME Specific Peptides for SDR9C7 Gene
- Q8NEX9:
-
- GVEAFSD
- TGCDSGFG
Post-translational modifications for SDR9C7 Gene
Other Protein References for SDR9C7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-SDR9C7 monoclonal antibody, clone 5I0
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- Invitrogen Antibodies for SDR9C7 (AFLGC-SDR9C7)
-
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Protein Products
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- antibodies-online: Show 4 available SDR9C7 Proteins ranked by validation data
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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
Q8NEX9UniProtKB/Swiss-Prot:
DR9C7_HUMAN :- Belongs to the short-chain dehydrogenases/reductases (SDR) family.
- Family:
-
- Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Function for SDR9C7 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004745 | retinol dehydrogenase activity | IDA | 19703561 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
Phenotypes for SDR9C7 Gene
- GenomeRNAi human phenotypes for SDR9C7:
Animal Model Products
-
Taconic Biosciences Mouse Models for SDR9C7
CRISPR Products
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miRNA for SDR9C7 Gene
- miRTarBase miRNAs that target SDR9C7
-
- mmu-miR-1199-5p (MIRT603406)
- hsa-miR-8061 (MIRT711267)
- hsa-miR-4760-5p (MIRT711268)
- hsa-miR-4443 (MIRT711269)
- hsa-miR-4279 (MIRT711270)
- hsa-miR-376a-5p (MIRT711271)
- hsa-miR-876-3p (MIRT711272)
- hsa-miR-650 (MIRT711273)
- hsa-miR-3612 (MIRT711274)
- hsa-miR-1976 (MIRT711275)
- hsa-miR-3653-5p (MIRT711276)
- hsa-miR-4254 (MIRT711277)
- hsa-miR-3690 (MIRT711278)
- hsa-miR-6876-5p (MIRT711279)
- hsa-miR-4476 (MIRT711280)
miRNA Products
Inhibitory RNA Products
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Clone Products
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Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| mitochondrion | 3 |
| nucleus | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SDR9C7 Gene
Pathways & Interactions for SDR9C7 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by GPCR | ||
| 2 | the visual cycle I (vertebrates) | ||
| 3 | Metabolism of fat-soluble vitamins | ||
Pathways by source for SDR9C7 Gene
3 Reactome pathways for SDR9C7 Gene
Interacting Proteins for SDR9C7 Gene
GPS-Prot Interaction Network for SDR9C7
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0055114 | oxidation-reduction process | IEA,IDA | 19703561 |
No data available for SIGNOR curated interactions for SDR9C7 Gene
Transcripts for SDR9C7 Gene
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 :
-
- ENST00000293502 1789 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SDR9C7 - Select products 50% OFF >
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-
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-
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miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for SDR9C7
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Relevant External Links for SDR9C7 Gene
- GeneLoc Exon Structure for
- SDR9C7
Expression 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).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SDR9C7
SOURCE GeneReport for Unigene cluster for SDR9C7 Gene:
Hs.380178mRNA 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(4.4)
- Skin(2.5)
- Kidney(2.1)
- Eye(2)
Primer Products
-
OriGene qPCR primer pairs for SDR9C7
-
OriGene qPCR primer pairs and template standards for SDR9C7
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SDR9C7 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SDR9C7 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SDR9C7 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sdr9c7 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sdr9c7 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SDR9C7 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| Zebrafish (Danio rerio) |
Actinopterygii | dhrs9 31 |
|
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
Variants for SDR9C7 Gene
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 |
|---|---|---|---|---|---|
| 776722 | Benign: not provided | 56,929,422(-) | C/T | MISSENSE_VARIANT | |
| 781081 | Benign: not provided | 56,929,455(-) | C/T | MISSENSE_VARIANT | |
| 799773 | Likely Benign: not provided | 56,929,412(-) | G/A | SYNONYMOUS_VARIANT | |
| 807680 | Pathogenic: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13; not provided | 56,930,235(-) | T/C | MISSENSE_VARIANT | |
| rs530109812 | Pathogenic: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13. Ichthyosis, congenital, autosomal recessive 13 (ARCI13) [MIM:617574] | 56,934,048(-) | G/Ap.Arg72Trp | MISSENSE_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDR9C7 Gene
Disorders for SDR9C7 Gene
(11) MalaCards diseases for SDR9C7 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ichthyosis, congenital, autosomal recessive 13 |
|
|
| autosomal recessive congenital ichthyosis |
|
|
| ichthyosis |
|
|
| ichthyosis, congenital, autosomal recessive 7 |
|
|
| ichthyosis, congenital, autosomal recessive 1 |
|
|
Search SDR9C7 in MalaCards
View complete list of genes associated with diseases
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 mutations affecting the gene represented in this entry.
Additional Disease Information for SDR9C7
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for SDR9C7 Gene
Publications for SDR9C7 Gene
- 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
- The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for SDR9C7 Gene
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- Biorbyt antibodies for SDR9C7
Sources for SDR9C7 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
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