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

Gene ID: 317749, updated on 28-Oct-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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Related articles in PubMed

  1. CDNA cloning of a short isoform of human liver NADP (H) -dependent retinol dehydrogenase/reductase and analysis of its characteristics. Du J, et al. Yi Chuan Xue Bao, 2004 Jul. PMID 15473316
  2. Alternative transcription initiation and splicing variants of the DHRS4 gene cluster. Zhang Q, et al. Biosci Rep, 2009 Feb. PMID 18754758
  3. Non-EST based prediction of exon skipping and intron retention events using Pfam information. Hiller M, et al. Nucleic Acids Res, 2005. PMID 16204458, Free PMC Article
  4. Expression of a novel alternatively spliced variant of NADP(H)-dependent retinol dehydrogenase/reductase with deletion of exon 3 in cervical squamous carcinoma. Song XH, et al. Int J Cancer, 2007 Apr 15. PMID 17230527
  5. Bioinformatic analysis of the human DHRS4 gene cluster and a proposed mechanism for its transcriptional regulation. Su ZJ, et al. BMC Mol Biol, 2010 Jun 3. PMID 20525226, Free PMC Article

See all (21) citations in PubMed

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)

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

  • 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

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