Free for academic non-profit institutions. Other users need a Commercial license
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]
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004745 | retinol dehydrogenase activity | IDA | 19703561 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by GPCR | ||
2 | the visual cycle I (vertebrates) | ||
3 | Metabolism of fat-soluble vitamins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0055114 | oxidation-reduction process | IDA | -- |
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 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ichthyosis, congenital, autosomal recessive 13 |
|
|
autosomal recessive congenital ichthyosis |
|
|
ichthyosis |
|
|
ichthyosis, congenital, autosomal recessive 7 |
|
|
root caries |
|
|