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    DHRS12 dehydrogenase/reductase 12 [ Homo sapiens (human) ]

    Gene ID: 79758, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DHRS12provided by HGNC
    Official Full Name
    dehydrogenase/reductase 12provided by HGNC
    Primary source
    HGNC:HGNC:25832
    See related
    Ensembl:ENSG00000102796 MIM:616163; AllianceGenome:HGNC:25832
    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
    SDR40C1
    Summary
    This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
    Expression
    Ubiquitous expression in fat (RPKM 3.8), kidney (RPKM 3.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See DHRS12 in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (51754854..51804163, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (50969770..51018859, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52342129..52378299, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7777 Neighboring gene ATP synthase peripheral stalk-membrane subunit b pseudogene 1 Neighboring gene WD repeat and FYVE domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:52200616-52201123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:52201124-52201630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:52201812-52202431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:52202432-52203050 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:52216947-52217446 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:52220347-52220993 Neighboring gene Sharpr-MPRA regulatory region 2859 Neighboring gene uncharacterized LOC124903177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7778 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:52371189-52371717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5377 Neighboring gene uncharacterized LOC107984561 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7782 Neighboring gene transmembrane protein 272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:52423314-52423814 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:52435707-52436906 Neighboring gene coiled-coil domain containing 70 Neighboring gene CTAGE family member 3, pseudogene

    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 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. DHRS12 inhibits the proliferation and metastasis of osteosarcoma via Wnt3a/β-catenin pathway. Xu Z, et al. Future Oncol, 2020 Apr. PMID 32250163
    2. Genetic architecture of asthma in African American patients. Chang X, et al. J Allergy Clin Immunol, 2023 Apr. PMID 36089080, Free PMC Article
    3. Isolation and characterization of proteins associated with histone H3 tails in vivo. Heo K, et al. J Biol Chem, 2007 May 25. PMID 17403666
    4. Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD-associated UBQLN2 mutants. Strohm L, et al. Life Sci Alliance, 2022 Nov. PMID 35777956, Free PMC Article
    5. Multiplexed kinase interactome profiling quantifies cellular network activity and plasticity. Golkowski M, et al. Mol Cell, 2023 Mar 2. PMID 36736316, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic architecture of asthma in African American patients.
      Title: Genetic architecture of asthma in African American patients.
    2. DHRS12 inhibits the proliferation and metastasis of osteosarcoma via Wnt3a/beta-catenin pathway.
      Title: DHRS12 inhibits the proliferation and metastasis of osteosarcoma via Wnt3a/β-catenin pathway.
    Submit: New GeneRIF Correction

    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

    Homology

    Clone Names

    • FLJ13639

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dehydrogenase/reductase SDR family member 12
    Names
    dehydrogenase/reductase (SDR family) member 12
    short-chain dehydrogenase/reductase family 40C member 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_001031719.3 → NP_001026889.1  dehydrogenase/reductase SDR family member 12 isoform 1

      See identical proteins and their annotated locations for NP_001026889.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AL162377, BC009825, DB481446, R60032
      Consensus CDS
      CCDS31976.1
      UniProtKB/Swiss-Prot
      A0PJE2
      Related
      ENSP00000280056.2, ENST00000280056.6
      Conserved Domains (1) summary
      cl25409
      Location:33 → 186
      SDR; Short-chain dehydrogenases/reductases (SDR)

    2. NM_001270424.1 → NP_001257353.1  dehydrogenase/reductase SDR family member 12 isoform 3

      See identical proteins and their annotated locations for NP_001257353.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region and 3' UTR, including the use of an upstream start codon, compared to variant 1. The resulting protein (isoform 3) has distinct N- and C-termini and is longer than isoform 1.
      Source sequence(s)
      AA831151, BC026024, DB481446
      Consensus CDS
      CCDS58292.1
      UniProtKB/Swiss-Prot
      A0PJE2, Q96GB2, Q9H8H1
      Related
      ENSP00000507480.2, ENST00000682342.2
      Conserved Domains (2) summary
      cd09808
      Location:40 → 293
      DHRS-12_like_SDR_c-like; human dehydrogenase/reductase SDR family member (DHRS)-12/FLJ13639-like, classical (c)-like SDRs
      PRK06138
      Location:40 → 298
      PRK06138; short chain dehydrogenase; Provisional

    3. NM_001377533.1 → NP_001364462.1  dehydrogenase/reductase SDR family member 12 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL136525, AL162377
      Consensus CDS
      CCDS91809.1
      UniProtKB/TrEMBL
      A0A8C8L8Z5
      Related
      ENSP00000411565.3, ENST00000444610.8
      Conserved Domains (1) summary
      cl21454
      Location:33 → 244
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. NM_001377929.1 → NP_001364858.1  dehydrogenase/reductase SDR family member 12 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL136525, AL162377
      Conserved Domains (1) summary
      cl21454
      Location:40 → 235
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    5. NM_001377930.1 → NP_001364859.1  dehydrogenase/reductase SDR family member 12 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL136525, AL162377
      Conserved Domains (1) summary
      cl21454
      Location:103 → 268
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    6. NM_001377931.1 → NP_001364860.1  dehydrogenase/reductase SDR family member 12 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL136525, AL162377
      Conserved Domains (1) summary
      cd09808
      Location:40 → 296
      DHRS-12_like_SDR_c-like; human dehydrogenase/reductase SDR family member (DHRS)-12/FLJ13639-like, classical (c)-like SDRs

    7. NM_001377932.1 → NP_001364861.1  dehydrogenase/reductase SDR family member 12 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL136525, AL162377
      Conserved Domains (1) summary
      cl21454
      Location:1 → 153
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    8. NM_001377933.1 → NP_001364862.1  dehydrogenase/reductase SDR family member 12 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL136525, AL162377
      Conserved Domains (1) summary
      cl21454
      Location:40 → 205
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    9. NM_024705.2 → NP_078981.1  dehydrogenase/reductase SDR family member 12 isoform 2

      See identical proteins and their annotated locations for NP_078981.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' terminal exon, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA831151, AK023701, DB481446
      Consensus CDS
      CCDS9430.1
      UniProtKB/Swiss-Prot
      A0PJE2
      Related
      ENSP00000218981.1, ENST00000218981.5
      Conserved Domains (1) summary
      cl21454
      Location:33 → 232
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RNA

    1. NR_165330.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136525, AL162377

    2. NR_165332.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136525, AL162377

    3. NR_165333.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136525, AL162377

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      51754854..51804163 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430642.1 → XP_047286598.1  dehydrogenase/reductase SDR family member 12 isoform X24

    2. XM_047430638.1 → XP_047286594.1  dehydrogenase/reductase SDR family member 12 isoform X20

    3. XM_047430637.1 → XP_047286593.1  dehydrogenase/reductase SDR family member 12 isoform X19

    4. XM_047430632.1 → XP_047286588.1  dehydrogenase/reductase SDR family member 12 isoform X14

    5. XM_047430634.1 → XP_047286590.1  dehydrogenase/reductase SDR family member 12 isoform X16

    6. XM_047430629.1 → XP_047286585.1  dehydrogenase/reductase SDR family member 12 isoform X11

    7. XM_047430631.1 → XP_047286587.1  dehydrogenase/reductase SDR family member 12 isoform X13

    8. XM_047430628.1 → XP_047286584.1  dehydrogenase/reductase SDR family member 12 isoform X10

    9. XM_047430624.1 → XP_047286580.1  dehydrogenase/reductase SDR family member 12 isoform X6

    10. XM_047430621.1 → XP_047286577.1  dehydrogenase/reductase SDR family member 12 isoform X3

    11. XM_047430645.1 → XP_047286601.1  dehydrogenase/reductase SDR family member 12 isoform X26

    12. XM_047430630.1 → XP_047286586.1  dehydrogenase/reductase SDR family member 12 isoform X12

    13. XM_047430627.1 → XP_047286583.1  dehydrogenase/reductase SDR family member 12 isoform X9

    14. XM_047430626.1 → XP_047286582.1  dehydrogenase/reductase SDR family member 12 isoform X8

    15. XM_047430639.1 → XP_047286595.1  dehydrogenase/reductase SDR family member 12 isoform X21

    16. XM_047430625.1 → XP_047286581.1  dehydrogenase/reductase SDR family member 12 isoform X7

    17. XM_047430623.1 → XP_047286579.1  dehydrogenase/reductase SDR family member 12 isoform X5

    18. XM_047430620.1 → XP_047286576.1  dehydrogenase/reductase SDR family member 12 isoform X2

    19. XM_047430635.1 → XP_047286591.1  dehydrogenase/reductase SDR family member 12 isoform X17

    20. XM_047430622.1 → XP_047286578.1  dehydrogenase/reductase SDR family member 12 isoform X4

    21. XM_047430619.1 → XP_047286575.1  dehydrogenase/reductase SDR family member 12 isoform X1

    22. XM_047430647.1 → XP_047286603.1  dehydrogenase/reductase SDR family member 12 isoform X27

    23. XM_047430646.1 → XP_047286602.1  dehydrogenase/reductase SDR family member 12 isoform X27

    24. XM_047430641.1 → XP_047286597.1  dehydrogenase/reductase SDR family member 12 isoform X23

    25. XM_047430640.1 → XP_047286596.1  dehydrogenase/reductase SDR family member 12 isoform X22

    26. XM_047430636.1 → XP_047286592.1  dehydrogenase/reductase SDR family member 12 isoform X18

    27. XM_047430633.1 → XP_047286589.1  dehydrogenase/reductase SDR family member 12 isoform X15

    28. XM_047430643.1 → XP_047286599.1  dehydrogenase/reductase SDR family member 12 isoform X25

    RNA

    1. XR_007063698.1 RNA Sequence

    2. XR_007063697.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      50969770..51018859 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375000.1 → XP_054230975.1  dehydrogenase/reductase SDR family member 12 isoform X24

    2. XM_054374996.1 → XP_054230971.1  dehydrogenase/reductase SDR family member 12 isoform X20

    3. XM_054374995.1 → XP_054230970.1  dehydrogenase/reductase SDR family member 12 isoform X19

    4. XM_054374990.1 → XP_054230965.1  dehydrogenase/reductase SDR family member 12 isoform X14

    5. XM_054374992.1 → XP_054230967.1  dehydrogenase/reductase SDR family member 12 isoform X16

    6. XM_054374987.1 → XP_054230962.1  dehydrogenase/reductase SDR family member 12 isoform X11

    7. XM_054374989.1 → XP_054230964.1  dehydrogenase/reductase SDR family member 12 isoform X13

    8. XM_054374986.1 → XP_054230961.1  dehydrogenase/reductase SDR family member 12 isoform X10

    9. XM_054374982.1 → XP_054230957.1  dehydrogenase/reductase SDR family member 12 isoform X6

    10. XM_054374979.1 → XP_054230954.1  dehydrogenase/reductase SDR family member 12 isoform X3

    11. XM_054375002.1 → XP_054230977.1  dehydrogenase/reductase SDR family member 12 isoform X26

    12. XM_054374988.1 → XP_054230963.1  dehydrogenase/reductase SDR family member 12 isoform X12

    13. XM_054374985.1 → XP_054230960.1  dehydrogenase/reductase SDR family member 12 isoform X9

    14. XM_054374984.1 → XP_054230959.1  dehydrogenase/reductase SDR family member 12 isoform X8

    15. XM_054374997.1 → XP_054230972.1  dehydrogenase/reductase SDR family member 12 isoform X21

    16. XM_054374983.1 → XP_054230958.1  dehydrogenase/reductase SDR family member 12 isoform X7

    17. XM_054374981.1 → XP_054230956.1  dehydrogenase/reductase SDR family member 12 isoform X5

    18. XM_054374978.1 → XP_054230953.1  dehydrogenase/reductase SDR family member 12 isoform X2

    19. XM_054374993.1 → XP_054230968.1  dehydrogenase/reductase SDR family member 12 isoform X17

    20. XM_054374980.1 → XP_054230955.1  dehydrogenase/reductase SDR family member 12 isoform X4

    21. XM_054374977.1 → XP_054230952.1  dehydrogenase/reductase SDR family member 12 isoform X1

    22. XM_054375004.1 → XP_054230979.1  dehydrogenase/reductase SDR family member 12 isoform X27

    23. XM_054375003.1 → XP_054230978.1  dehydrogenase/reductase SDR family member 12 isoform X27

    24. XM_054374999.1 → XP_054230974.1  dehydrogenase/reductase SDR family member 12 isoform X23

    25. XM_054374998.1 → XP_054230973.1  dehydrogenase/reductase SDR family member 12 isoform X22

    26. XM_054374994.1 → XP_054230969.1  dehydrogenase/reductase SDR family member 12 isoform X18

    27. XM_054374991.1 → XP_054230966.1  dehydrogenase/reductase SDR family member 12 isoform X15

    28. XM_054375001.1 → XP_054230976.1  dehydrogenase/reductase SDR family member 12 isoform X25

    RNA

    1. XR_008488781.1 RNA Sequence

    2. XR_008488780.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0PJE2.2 GenPept UniProtKB/Swiss-Prot:A0PJE2

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