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

    Gene ID: 201140, updated on 10-Dec-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 all-trans-retinol dehydrogenase (NAD+) activity. Predicted to be involved in D-glucose import; intracellular calcium ion homeostasis; and regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum. Predicted to be located in longitudinal sarcoplasmic reticulum and sarcoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward heart (RPKM 31.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See DHRS7C in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (9771438..9791592, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (9679162..9699310, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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)

    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 D-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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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