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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	121214
Gene name	Short chain dehydrogenase/reductase family 9C member 7
Gene symbol	SDR9C7
Synonyms (NCBI Gene)	ARCI13RDHSSDR-OSDRO
Chromosome	12
Chromosome location	12q13.3
Summary	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

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)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital ichthyosis of skin	Pathogenic; Likely pathogenic	rs774363396, rs538068583	RCV000782401 RCV000782400	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis, congenital, autosomal recessive 13	Pathogenic	rs530109812, rs774363396, rs760309815	RCV000495852 RCV000578258 RCV000624722	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lamellar ichthyosis	Pathogenic; Likely pathogenic	rs760309815, rs538068583	RCV004800494 RCV005240566	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ICHTHYOSIFORM ERYTHRODERMA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ICHTHYOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis and erythrokeratoderma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal recessive 53	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SDR9C7-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	29924316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	28173123, 31671075		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ichthyosis	Congenital Ichthyosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	28173123		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	ORPHANET_DG	28369735, 28906551		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASDB_DG	22605921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	33422619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	31671075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	28173123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	33422619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13	Ichthyosis with hypotrichosis	UNIPROT_DG	28173123		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13	Ichthyosis with hypotrichosis	GENOMICS_ENGLAND_DG	28173123, 28369735		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13	Ichthyosis with hypotrichosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis	Lamellar ichthyosis	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lamellar ichthyosis type 3	Lamellar ichthyosis	Pubtator	30978464, 33422619, 36980989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23341893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	33422619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23341893		★★★★★ ★☆☆☆☆ Found in Text Mining only

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