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DHRS7C dehydrogenase/reductase 7C [ Homo sapiens (human) ]

Gene ID: 201140, updated on 11-Apr-2024

Summary

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Official Symbol
DHRS7Cprovided by HGNC
Official Full Name
dehydrogenase/reductase 7Cprovided by HGNC
Primary source
HGNC:HGNC:32423
See related
Ensembl:ENSG00000184544 MIM:616161; AllianceGenome:HGNC:32423
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SDR32C2
Summary
Predicted to enable NAD-retinol dehydrogenase activity. Predicted to be involved in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum. Predicted to be located in extracellular region and longitudinal sarcoplasmic reticulum. Predicted to be active in sarcoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward heart (RPKM 31.7) See more
Orthologs
mouse all
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Genomic context

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Location:
17p13.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (9771438..9791592, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (9679162..9699310, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (9674755..9694909, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 52 Neighboring gene uncharacterized LOC124903924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8198 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9549075-9549722 Neighboring gene uncharacterized LOC107985011 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:9550412-9551611 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9565481-9565980 Neighboring gene ubiquitin specific peptidase 43 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:9579536-9580735 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:9604114-9605313 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:9612165-9612329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9630942-9631442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9631443-9631943 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:9680825-9681382 Neighboring gene DHRS7C intron CAGE-defined high expression enhancer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47652 Neighboring gene uncharacterized LOC124903925 Neighboring gene GSG1 like 2 Neighboring gene glucagon like peptide 2 receptor Neighboring gene nucleophosmin 1 pseudogene 45

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. DHRS7c, a novel cardiomyocyte-expressed gene that is down-regulated by adrenergic stimulation and in heart failure. Lu B, et al. Eur J Heart Fail, 2012 Jan. PMID 22143674
  2. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. Persson B, et al. Chem Biol Interact, 2009 Mar 16. PMID 19027726, Free PMC Article
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: GSG1L2

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables all-trans-retinol dehydrogenase (NAD+) activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in glucose import ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intracellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in longitudinal sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in sarcoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
dehydrogenase/reductase SDR family member 7C
Names
dehydrogenase/reductase (SDR family) member 7C
sarcoplasmic reticulum protein of 35 kDa
short-chain dehydrogenase/reductase family 32C member 2
NP_001099041.1
NP_001207422.1

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)

  1. NM_001105571.3 → NP_001099041.1  dehydrogenase/reductase SDR family member 7C isoform 2 precursor

    See identical proteins and their annotated locations for NP_001099041.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC027045, AI091419, AI168267, BC147024
    Consensus CDS
    CCDS58517.1
    UniProtKB/Swiss-Prot
    A6NNS2
    Related
    ENSP00000459579.1, ENST00000571134.2
    Conserved Domains (1) summary
    cd05332
    Location:35 → 296
    11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs

  2. NM_001220493.2 → NP_001207422.1  dehydrogenase/reductase SDR family member 7C isoform 1 precursor

    See identical proteins and their annotated locations for NP_001207422.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC027045, AI091419, AI168267, BC171909
    Consensus CDS
    CCDS56020.1
    UniProtKB/Swiss-Prot
    A6NNS2, B7ZW74, B9EJH3
    Related
    ENSP00000327975.4, ENST00000330255.9
    Conserved Domains (1) summary
    cd05332
    Location:35 → 297
    11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    9771438..9791592 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    9679162..9699310 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NNS2.3 GenPept UniProtKB/Swiss-Prot:A6NNS2

Gene LinkOut

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