Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	121214
Gene name Gene Name - the full gene name approved by the HGNC.	Short chain dehydrogenase/reductase family 9C member 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SDR9C7
Synonyms (NCBI Gene) Gene synonyms aliases	ARCI13, RDHS, SDR-O, SDRO
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.3
Summary Summary of gene provided in NCBI Entrez 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]

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138435128	T>C	Pathogenic	Coding sequence variant, missense variant
rs530109812	G>A	Pathogenic	Missense variant, coding sequence variant
rs538068583	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs760309815	->T	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs764593071	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs770729222	A>G	Pathogenic	Coding sequence variant, missense variant
rs774363396	G>A	Pathogenic	Stop gained, coding sequence variant

Show/Hide all(59)

miRTarBase ID	miRNA	Experiments	Reference
MIRT711280	hsa-miR-4476	HITS-CLIP	19536157
MIRT711279	hsa-miR-6876-5p	HITS-CLIP	19536157
MIRT711278	hsa-miR-3690	HITS-CLIP	19536157
MIRT711277	hsa-miR-4254	HITS-CLIP	19536157
MIRT711276	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT711275	hsa-miR-1976	HITS-CLIP	19536157
MIRT711274	hsa-miR-3612	HITS-CLIP	19536157
MIRT711273	hsa-miR-650	HITS-CLIP	19536157
MIRT711272	hsa-miR-876-3p	HITS-CLIP	19536157
MIRT711271	hsa-miR-376a-5p	HITS-CLIP	19536157
MIRT711270	hsa-miR-4279	HITS-CLIP	19536157
MIRT711269	hsa-miR-4443	HITS-CLIP	19536157
MIRT711268	hsa-miR-4760-5p	HITS-CLIP	19536157
MIRT711267	hsa-miR-8061	HITS-CLIP	19536157
MIRT711280	hsa-miR-4476	HITS-CLIP	19536157
MIRT711279	hsa-miR-6876-5p	HITS-CLIP	19536157
MIRT711278	hsa-miR-3690	HITS-CLIP	19536157
MIRT711277	hsa-miR-4254	HITS-CLIP	19536157
MIRT711276	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT711275	hsa-miR-1976	HITS-CLIP	19536157
MIRT711274	hsa-miR-3612	HITS-CLIP	19536157
MIRT711273	hsa-miR-650	HITS-CLIP	19536157
MIRT711272	hsa-miR-876-3p	HITS-CLIP	19536157
MIRT711271	hsa-miR-376a-5p	HITS-CLIP	19536157
MIRT711270	hsa-miR-4279	HITS-CLIP	19536157
MIRT711269	hsa-miR-4443	HITS-CLIP	19536157
MIRT711268	hsa-miR-4760-5p	HITS-CLIP	19536157
MIRT711267	hsa-miR-8061	HITS-CLIP	19536157
MIRT1332106	hsa-miR-1207-3p	CLIP-seq
MIRT1332107	hsa-miR-4455	CLIP-seq
MIRT1332108	hsa-miR-4663	CLIP-seq
MIRT1332109	hsa-miR-609	CLIP-seq
MIRT2098150	hsa-miR-196a	CLIP-seq
MIRT2098151	hsa-miR-196b	CLIP-seq
MIRT2098152	hsa-miR-3622a-5p	CLIP-seq
MIRT2098153	hsa-miR-3927	CLIP-seq
MIRT2098154	hsa-miR-4423-3p	CLIP-seq
MIRT2322886	hsa-miR-136	CLIP-seq
MIRT2098150	hsa-miR-196a	CLIP-seq
MIRT2098151	hsa-miR-196b	CLIP-seq
MIRT2322887	hsa-miR-3180-5p	CLIP-seq
MIRT2098152	hsa-miR-3622a-5p	CLIP-seq
MIRT2098153	hsa-miR-3927	CLIP-seq
MIRT2098154	hsa-miR-4423-3p	CLIP-seq
MIRT2322888	hsa-miR-4659a-3p	CLIP-seq
MIRT2322889	hsa-miR-4659b-3p	CLIP-seq
MIRT2322890	hsa-miR-515-5p	CLIP-seq
MIRT2322891	hsa-miR-665	CLIP-seq
MIRT2322892	hsa-miR-942	CLIP-seq
MIRT2098150	hsa-miR-196a	CLIP-seq
MIRT2098151	hsa-miR-196b	CLIP-seq
MIRT2098152	hsa-miR-3622a-5p	CLIP-seq
MIRT2098153	hsa-miR-3927	CLIP-seq
MIRT2098154	hsa-miR-4423-3p	CLIP-seq
MIRT2098150	hsa-miR-196a	CLIP-seq
MIRT2098151	hsa-miR-196b	CLIP-seq
MIRT2098152	hsa-miR-3622a-5p	CLIP-seq
MIRT2098153	hsa-miR-3927	CLIP-seq
MIRT2098154	hsa-miR-4423-3p	CLIP-seq

Show/Hide all(8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IBA
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IDA	19703561
GO:0005737	Component	Cytoplasm	IEA
GO:0008202	Process	Steroid metabolic process	IBA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0042572	Process	Retinol metabolic process	IBA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA

MIM	HGNC	e!Ensembl
609769	29958	ENSG00000170426

Protein

UniProt ID

Q8NEX9

Protein name

Short-chain dehydrogenase/reductase family 9C member 7 (SDR9C7) (EC 1.1.1.-) (O-acylceramide dehydrogenase) (Orphan short-chain dehydrogenase/reductase) (SDR-O) (RDH-S)

Protein function

Plays a crucial role in the formation of the epidermal permeability barrier (PubMed:31671075). Catalyzes the NAD+-dependent dehydrogenation of the linoleate 9,10-trans-epoxy-11E-13-alcohol esterified in omega-O-acylceramides (such as in N-[omega

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00106	adh_short	26 → 218	short chain dehydrogenase	Domain

Tissue specificity

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). {ECO:0000269|PubMed:12234675}.

Sequence

MAALTDLSFMYRWFKNCNLVGNLSEKYVFITGCDSGFGNLLAKQLVDRGMQVLAACFTEE
GSQKLQRDTSYRLQTTLLDVTKSESIKAAAQWVRDKVGEQGLWALVNNAGVGLPSGPNEW
LTKDDFVKVINVNLVGLIEVTLHMLPMVKRARGRVVNMSSSGGRVAVIGGGYCVSKFGVE
AFSDSIRRELYYFGVKVCIIEPGNYRTAILGKENLESRMRKLWERLPQETRDSYGEDYFR
IYTDKLKNIMQVAEPRVRDVINSMEHAIVSRSPRIRYNPGLDAKLLYIPLAKLPTPVTDF
ILSRYLPRPADSV

Sequence length

313

Interactions

View interactions

	Reactome
			The canonical retinoid cycle in rods (twilight vision)

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
congenital ichthyosis	Congenital ichthyosis of skin	rs774363396, rs538068583	N/A
Ichthyosis with hypotrichosis	ichthyosis, congenital, autosomal recessive 13	rs530109812, rs774363396, rs760309815	N/A
Lamellar ichthyosis	lamellar ichthyosis	rs538068583, rs760309815	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Insomnia	Insomnia	N/A	N/A	GWAS
Renal Carcinoma	Renal cell carcinoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Dermatitis Exfoliative	Associate	33422619
Hyperkeratosis Epidermolytic	Associate	33422619
Ichthyosis	Associate	33422619
Keratoderma Palmoplantar	Associate	33422619
Lamellar ichthyosis type 3	Associate	30978464, 33422619, 36980989
Skin Diseases	Associate	33422619

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