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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
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Genomic context

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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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