SDR9C7 short chain dehydrogenase/reductase family 9C member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SDR9C7provided by HGNC
Official Full Name: short chain dehydrogenase/reductase family 9C member 7provided by HGNC
Primary source: HGNC:HGNC:29958
See related: Ensembl:ENSG00000170426 MIM:609769; AllianceGenome:HGNC:29958
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RDHS; SDRO; SDR-O; ARCI13
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]
Expression: Biased expression in skin (RPKM 17.6) and esophagus (RPKM 5.2) See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (56923133..56934408, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (56891006..56902282, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (57316917..57328192, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of SDR9C7 Impairs Epidermal Barrier Function.
Title: Knockdown of SDR9C7 Impairs Epidermal Barrier Function.
Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.
Title: Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.
The results strongly support the findings of previous studies,2-5 and thus provide further evidence that SDR9C7 is a novel causative gene for ARCI.
Title: Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.
The authors report a novel mutation in SDR9C7 responsible for ARCI in a Pakistani family.
Title: Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family.
Missense mutations in SDR9C7 gene were identified in families with autosomal recessive congenital ichthyosis: two families shared an identical homozygous mutation c.599T > C (p.Ile200Thr) and one family had another homozygous mutation c.214C > T (p.Arg72Trp). The mutations severely affected a stability of the protein. In a patient's skin, SDR9C7 gene expression in the cornified layer was decreased.
Title: Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital ichthyosis of skin MedGen: C0020758 GeneReviews: Autosomal Recessive Congenital Ichthyosis	Compare labs
Ichthyosis, congenital, autosomal recessive 13 MedGen: C4539772 OMIM: 617574 GeneReviews: Not available	Compare labs
Lamellar ichthyosis MedGen: C5848247 GeneReviews: Autosomal Recessive Congenital Ichthyosis	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables all-trans-retinol dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables all-trans-retinol dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in retinol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: short-chain dehydrogenase/reductase family 9C member 7

Names: RDH-S; orphan short-chain dehydrogenase / reductase; orphan short-chain dehydrogenase/reductase; retinol dehydrogenase similar protein

NP_683695.1

EC 1.1.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_148897.3 → NP_683695.1 short-chain dehydrogenase/reductase family 9C member 7

See identical proteins and their annotated locations for NP_683695.1

Status: REVIEWED

Source sequence(s)

AC026120, AK122782, BC101551

Consensus CDS

CCDS8926.1

UniProtKB/Swiss-Prot

B3KVB4, Q8NEX9

Related

ENSP00000293502.1, ENST00000293502.2

Conserved Domains (1) summary

cd09805
Location:26 → 302

type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs