SDR9C7 (short chain dehydrogenase/reductase family 9C member 7)

2013-08-01  

Identity

HGNC
SDR9C7
LOCATION
12q13.3
LOCUSID
121214
ALIAS
ARCI13,RDHS,SDR-O,SDRO

Other Information

Locus ID:

NCBI: 121214
MIM: 609769
HGNC: 29958
Ensembl: ENSG00000170426

Variants:

dbSNP: 121214
ClinVar: 121214
TCGA: ENSG00000170426
COSMIC: SDR9C7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170426ENST00000293502Q8NEX9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902

References

Pubmed IDYearTitleCitations
334226192021Knockdown of SDR9C7 Impairs Epidermal Barrier Function.3
334226192021Knockdown of SDR9C7 Impairs Epidermal Barrier Function.3
319538432020Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.8
319538432020Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.8
289065512018Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.5
289065512018Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.5
283697352017Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family.3
283697352017Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family.3
281731232016Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.22
281731232016Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.22

Citation

Dessen P

SDR9C7 (short chain dehydrogenase/reductase family 9C member 7)

Atlas Genet Cytogenet Oncol Haematol. 2013-08-01

Online version: http://atlasgeneticsoncology.org/gene/53488/sdr9c7-(short-chain-dehydrogenase-reductase-family-9c-member-7)