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    DHRS4L2 dehydrogenase/reductase 4 like 2 [ Homo sapiens (human) ]

    Gene ID: 317749, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DHRS4L2provided by HGNC
    Official Full Name
    dehydrogenase/reductase 4 like 2provided by HGNC
    Primary source
    HGNC:HGNC:19731
    See related
    Ensembl:ENSG00000187630 MIM:615196; AllianceGenome:HGNC:19731
    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
    SDR25C3
    Summary
    This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
    Expression
    Broad expression in kidney (RPKM 43.2), small intestine (RPKM 16.8) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See DHRS4L2 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23969874..24006408)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18170291..18210072)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24439083..24475617)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene DHRS4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8181 Neighboring gene uncharacterized LOC124903290 Neighboring gene dehydrogenase/reductase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5615 Neighboring gene dehydrogenase/reductase 4 like 1 (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24521876-24522575 Neighboring gene capping protein regulator and myosin 1 linker 3 Neighboring gene uncharacterized LOC105370412

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DHRS4L2 is a duplicate syntenic form of the human DHRS4 gene.
      Title: Molecular and functional evolution of human DHRS2 and DHRS4 duplicated genes.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC905, FLJ11525

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbonyl reductase (NADPH) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in retinal metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    dehydrogenase/reductase SDR family member 4-like 2
    Names
    NADPH-dependent retinol dehydrogenase/reductase-like protein 2
    dehydrogenase/reductase (SDR family) member 4 like 2
    dehydrogenase/reductase (SDR family) member 4 like 2A3
    short chain dehydrogenase/reductase family 25C member 3

    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.

    Genomic

    1. NG_023545.1 RefSeqGene

      Range
      24056..41530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193635.1 → NP_001180564.1  dehydrogenase/reductase SDR family member 4-like 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform 2.
      Source sequence(s)
      AL136419, DN237882, GU564234
      UniProtKB/TrEMBL
      D5KJA1
      Conserved Domains (2) summary
      pfam13900
      Location:2 → 15
      GVQW; Putative domain of unknown function
      cl21454
      Location:16 → 148
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_001193636.1 → NP_001180565.1  dehydrogenase/reductase SDR family member 4-like 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform 3.
      Source sequence(s)
      AL136419, DA738374, DQ088987, GU564234, GU564235
      Consensus CDS
      CCDS86376.1
      UniProtKB/TrEMBL
      A0A087WSZ6, H0YKN3
      Related
      ENSP00000441433.3, ENST00000543805.6
      Conserved Domains (1) summary
      cl21454
      Location:1 → 109
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    3. NM_001193637.1 → NP_001180566.1  dehydrogenase/reductase SDR family member 4-like 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL136419, DA738374, DN237881, GU564234
      Consensus CDS
      CCDS73621.1
      UniProtKB/TrEMBL
      F6VUV4
      Related
      ENSP00000441095.2, ENST00000534993.5
      Conserved Domains (1) summary
      cl21454
      Location:1 → 68
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. NM_001412315.1 → NP_001399244.1  dehydrogenase/reductase SDR family member 4-like 2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses the same exon combination as variant 4 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (5) has a frameshifted C-terminus compared to isoform 4.
      Source sequence(s)
      CP068264

    5. NM_198083.4 → NP_932349.2  dehydrogenase/reductase SDR family member 4-like 2 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform 1.
      Source sequence(s)
      AL136419, BC101814, GU564234
      Consensus CDS
      CCDS9606.2
      UniProtKB/Swiss-Prot
      H0YN69, Q3YLD4, Q6PKH6
      UniProtKB/TrEMBL
      A0AAG2UWK5
      Related
      ENSP00000334801.6, ENST00000335125.11
      Conserved Domains (1) summary
      cl21454
      Location:24 → 210
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RNA

    1. NR_178184.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: Transcript Variant: This variant (1, non-coding) uses the same exon combination as variant (1, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      CP068264

    2. NR_178185.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: Transcript Variant: This variant (2, non-coding) uses the same exon combination as variant (2, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      CP068264

    3. NR_178186.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: Transcript Variant: This variant (3, non-coding) uses the same exon combination as variant (3, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      CP068264

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      23969874..24006408
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      270855..312739
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18170291..18210072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PKH6.2 GenPept UniProtKB/Swiss-Prot:Q6PKH6

    Gene LinkOut

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

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