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

Gene

• Entrez ID: 121214
• Gene name: Short chain dehydrogenase/reductase family 9C member 7
• Gene symbol: SDR9C7
• Synonyms (NCBI Gene): ARCI13, RDHS, SDR-O, SDRO
• Disease Acronyms (UniProt): ARCI13
• 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]

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004745	Function	Retinol dehydrogenase activity	IDA	19703561
GO:0005737	Component	Cytoplasm	IEA

Other IDs

• MIM: 609769
• HGNC: 29958
• e!Ensembl: 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

Pathways

Reactome:

The canonical retinoid cycle in rods (twilight vision)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Congenital ichthyosis	Congenital ichthyosis	rs118203935, rs118203936, rs118203937, rs199422216, rs199422217, rs1561831582, rs28940268, rs28940269, rs28940568, rs28940270, rs387906284, rs387906285, rs137853289, rs267606622, rs121434232, rs121434233, rs121434234, rs137852931, rs137852932, rs137853131, rs387906349, rs137853023, rs137853024, rs2139023508, rs121918719, rs121918728, rs121918716, rs121918717, rs121918718, rs121918720, rs121918721, rs121918722, rs121918723, rs2139018490, rs121918725, rs121918726, rs121918727, rs121918730, rs121918731, rs121918732, rs398122900, rs397514522, rs398122901, rs878853259, rs397514523, rs397514524, rs397514525, rs143473912, rs398122902, rs398122903, rs398122904, rs398122905, rs397514526, rs397514527, rs397514528, rs397514529, rs1598181810, rs397514532, rs199766569, rs397514533, rs786205120, rs745480657, rs1355284797, rs1561864453, rs1561853847, rs587776996, rs762679102, rs141340759, rs587777262, rs587777263, rs199545653, rs863223405, rs370031870, rs864321707, rs753798494, rs114863111, rs11891778, rs780990272, rs886039654, rs752509098, rs750066836, rs142634031, rs886041250, rs886041950, rs200491579, rs147149459, rs531800013, rs781006633, rs370356566, rs201868387, rs1057517836, rs904122716, rs151054393, rs531650682, rs139208806, rs959284348, rs1170446813, rs781053760, rs369445146, rs922934422, rs202128350, rs745368359, rs139375856, rs199503269, rs1064794422, rs367699137, rs762667660, rs1114167426, rs1114167425, rs1114167424, rs762765702, rs1131692156, rs1555643304, rs775524204, rs1554138062, rs771820315, rs1555306238, rs760429286, rs1553520468, rs774363396, rs1555305836, rs1220151696, rs1555306172, rs140000324, rs752349623, rs1555305725, rs1555305783, rs1555306113, rs779287673, rs1437822062, rs776068111, rs1555306117, rs1322979131, rs199678720, rs1211601030, rs147916609, rs1156392436, rs773303931, rs1044429462, rs1555306089, rs1555306102, rs1296165092, rs1199770893, rs972054392, rs201432046, rs758568142, rs118091316, rs369811073, rs1568357749, rs773886415, rs1382435790, rs770500550, rs776275777, rs1568360348, rs1568360387, rs1568360475, rs1568360526, rs1568360554, rs1568361250, rs751937099, rs768098854, rs767352854, rs755885838, rs370734976, rs1568362605, rs1568362644, rs769229606, rs201129618, rs1568364101, rs1568364107, rs1568364117, rs200581968, rs144961059, rs1568365205, rs1167473603, rs1360295659, rs1187032187, rs1559120651, rs200806519, rs1566380103, rs1182312612, rs761068277, rs764355087, rs1559134341, rs1561831443, rs373501601, rs1373230987, rs533584507, rs1582086407, rs746575171, rs538068583, rs1566377068, rs1202280089, rs1381998109, rs543521135, rs1247223599, rs773777400, rs1230140208, rs1566381457, rs1567644030, rs1567980596, rs746723399, rs1028050037, rs1567985231, rs1567985261, rs1311967606, rs1296095311, rs765682032, rs1568005543, rs1449980834, rs745942843, rs112419023, rs1566378425, rs1581262988, rs1581265561, rs775903553, rs900769357, rs371608909, rs777992589, rs1581271869, rs1581272003, rs1212378071, rs1027052344, rs375688767, rs1581272834, rs886060339, rs1581273254, rs1452328130, rs1581269752, rs1581271844, rs1207879599, rs1582078740, rs766188849, rs753687060, rs1594571148, rs1598181642, rs1574984736, rs1596772428, rs867950920, rs1594568541, rs760428119
Glaucoma	Glaucoma, Open-Angle	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644	22605921
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Ichthyosis with hypotrichosis	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13	rs1114167426, rs1114167425, rs1114167424, rs762765702, rs530109812, rs774363396, rs760309815, rs140526640, rs1303127476	28173123, 28369735
Lamellar ichthyosis	Lamellar ichthyosis	rs118203935, rs118203937, rs199422216, rs199422217, rs28940270, rs137853289, rs137853134, rs121918716, rs121918717, rs121918718, rs121918720, rs121918722, rs121918723, rs121918725, rs121918731, rs121918732, rs397514525, rs143473912, rs397514532, rs199766569, rs587779765, rs587776384, rs370031870, rs757520757, rs752509098, rs142634031, rs886041250, rs200491579, rs147149459, rs781006633, rs370356566, rs781053760, rs199503269, rs367699137, rs938583000, rs1554138062, rs771820315, rs760429286, rs781631629, rs760309815, rs779287673, rs1322979131, rs1296165092, rs118091316, rs369811073, rs1382435790, rs768098854, rs767352854, rs769229606, rs1567982673, rs761068277, rs538068583, rs543521135, rs1230140208, rs1311967606, rs1296095311, rs375688767
Lung carcinoma	Carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	29924316
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease term	Disease name	Evidence	References	Source
Otitis media	Chronic otitis media			ClinVar
Insomnia	Insomnia			GWAS
Renal Carcinoma	Renal Carcinoma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
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