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    SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 [ Homo sapiens (human) ]

    Gene ID: 100288072, updated on 3-Apr-2024

    Summary

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    Official Symbol
    SDR42E2provided by HGNC
    Official Full Name
    short chain dehydrogenase/reductase family 42E, member 2provided by HGNC
    Primary source
    HGNC:HGNC:35414
    See related
    Ensembl:ENSG00000183921 AllianceGenome:HGNC:35414
    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
    Summary
    Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See SDR42E2 in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (22162506..22191751)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (22025463..22054707, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (22173827..22203072)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene modulator of smoothened Neighboring gene uncharacterized LOC105371129 Neighboring gene von Willebrand factor A domain containing 3A Neighboring gene uncharacterized LOC124903666 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:22196551-22197050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22201633-22202132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7263 Neighboring gene tRNA-Leu (anticodon TAG) 3-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22221261-22221761 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43156 Neighboring gene GATA motif-containing MPRA enhancer 198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22229709-22230208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22237029-22237652 Neighboring gene eukaryotic elongation factor 2 kinase Neighboring gene Sharpr-MPRA regulatory region 4253

    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. The sequence and analysis of duplication-rich human chromosome 16. Martin J, et al. Nature, 2004 Dec 23. PMID 15616553
    2. Comparative Interactomes of VRK1 and VRK3 with Their Distinct Roles in the Cell Cycle of Liver Cancer. Lee N, et al. Mol Cells, 2017 Sep 30. PMID 28927264, 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. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, 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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    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase activity IEA
    Inferred from Electronic Annotation
    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 steroid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    putative short-chain dehydrogenase/reductase family 42E member 2
    Names
    putative 3-beta-HSD family protein ENSP00000330812
    NP_001352217.1
    NP_001381248.1
    XP_016879466.1
    XP_016879467.1
    XP_016879469.1
    XP_016879470.1
    XP_016879471.1
    XP_054188109.1
    XP_054188110.1
    XP_054188111.1
    XP_054188112.1
    XP_054188113.1
    XP_054235294.1
    XP_054235295.1
    XP_054235296.1
    XP_054235297.1
    XP_054235298.1

    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_001365288.2 → NP_001352217.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC009019
      Conserved Domains (2) summary
      cl25409
      Location:239 → 577
      SDR; Short-chain dehydrogenases/reductases (SDR)
      cl26386
      Location:31 → 222
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    2. NM_001394319.2 → NP_001381248.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC009019
      Consensus CDS
      CCDS92125.1
      UniProtKB/Swiss-Prot
      A6NKP2
      Related
      ENSP00000473474.2, ENST00000602312.3
      Conserved Domains (1) summary
      cd09812
      Location:35 → 373
      3b-HSD_like_1_SDR_e; 3beta-hydroxysteroid dehydrogenase (3b-HSD)-like, subgroup1, extended (e) 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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      22162506..22191751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023977.2 → XP_016879466.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X1

      Conserved Domains (2) summary
      cl25409
      Location:239 → 577
      SDR; Short-chain dehydrogenases/reductases (SDR)
      cl26386
      Location:31 → 222
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    2. XM_017023978.3 → XP_016879467.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X2

      UniProtKB/TrEMBL
      A0A8I5KWA0
      Related
      ENSP00000509391.1, ENST00000686682.1
      Conserved Domains (2) summary
      cl25409
      Location:239 → 542
      SDR; Short-chain dehydrogenases/reductases (SDR)
      cl26386
      Location:31 → 222
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    3. XM_017023980.3 → XP_016879469.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KWA0
      Conserved Domains (2) summary
      cl25409
      Location:239 → 497
      SDR; Short-chain dehydrogenases/reductases (SDR)
      cl26386
      Location:31 → 222
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    4. XM_017023981.3 → XP_016879470.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X4

      UniProtKB/TrEMBL
      A0A8I5KWA0
      Conserved Domains (2) summary
      cl25409
      Location:239 → 474
      SDR; Short-chain dehydrogenases/reductases (SDR)
      cl26386
      Location:31 → 222
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    5. XM_017023982.3 → XP_016879471.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X5

      UniProtKB/TrEMBL
      A0A8I5KQB5, A0A8I5QKM4
      Related
      ENSP00000509796.1, ENST00000687571.1
      Conserved Domains (2) summary
      cl25409
      Location:239 → 316
      SDR; Short-chain dehydrogenases/reductases (SDR)
      cl26386
      Location:31 → 224
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852933.1 Reference GRCh38.p14 PATCHES

      Range
      913288..942532 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332134.1 → XP_054188109.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X1

    2. XM_054332135.1 → XP_054188110.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X2

    3. XM_054332136.1 → XP_054188111.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X3

    4. XM_054332137.1 → XP_054188112.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X4

    5. XM_054332138.1 → XP_054188113.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X5

      UniProtKB/TrEMBL
      A0A8I5KQB5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      22025463..22054707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379319.1 → XP_054235294.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X1

    2. XM_054379320.1 → XP_054235295.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X2

    3. XM_054379321.1 → XP_054235296.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X3

    4. XM_054379322.1 → XP_054235297.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X4

    5. XM_054379323.1 → XP_054235298.1  putative short-chain dehydrogenase/reductase family 42E member 2 isoform X5

      UniProtKB/TrEMBL
      A0A8I5KQB5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NKP2.3 GenPept UniProtKB/Swiss-Prot:A6NKP2

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