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    DTWD2 DTW domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 285605, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DTWD2provided by HGNC
    Official Full Name
    DTW domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:19334
    See related
    Ensembl:ENSG00000169570 AllianceGenome:HGNC:19334
    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
    Enables tRNA-uridine aminocarboxypropyltransferase activity. Involved in tRNA modification. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.3), kidney (RPKM 2.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DTWD2 in Genome Data Viewer
    Location:
    5q23.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (118836074..118988547, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (119349130..119501614, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (118171769..118324242, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901052 Neighboring gene RNA, U7 small nuclear 34 pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:118134858-118136057 Neighboring gene NANOG hESC enhancer GRCh37_chr5:118158043-118158570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:118282316-118282836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:118282837-118283356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:118285193-118285694 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:118286400-118287290 Neighboring gene microRNA 1244-2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16260 Neighboring gene prothymosin alpha pseudogene 2 Neighboring gene N-acetylneuraminic acid phosphatase pseudogene Neighboring gene DMXL1 divergent transcript Neighboring gene RNA, U6 small nuclear 373, pseudogene Neighboring gene CATSPER2 pseudogene 2

    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. Genome-wide association studies of maximum number of drinks. Pan Y, et al. J Psychiatr Res, 2013 Nov. PMID 23953852, Free PMC Article
    2. Isolation and partial sequencing of the human prothymosin alpha gene family. Evidence against export of the gene products. Eschenfeldt WH, et al. J Biol Chem, 1989 May 5. PMID 2708378
    3. The human prothymosin alpha gene family contains several processed pseudogenes lacking deleterious lesions. Manrow RE, et al. Genomics, 1992 Jun. PMID 1612591
    4. Biogenesis and functions of aminocarboxypropyluridine in tRNA. Takakura M, et al. Nat Commun, 2019 Dec 5. PMID 31804502, Free PMC Article
    5. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. Hasson SA, et al. Nature, 2013 Dec 12. PMID 24270810, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The rs17144687 near DTWD2 associated with MaxDirnks.
      Title: Genome-wide association studies of maximum number of drinks.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    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

    • FLJ33977, MGC138579, MGC138580

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables tRNA-uridine aminocarboxypropyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in tRNA modification IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tRNA-uridine aminocarboxypropyltransferase 2
    Names
    DTW domain-containing protein 2
    NP_001295010.1
    NP_775937.1
    XP_011541640.3
    XP_011541642.1
    XP_054208407.1
    XP_054208408.1

    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_001308081.2 → NP_001295010.1  tRNA-uridine aminocarboxypropyltransferase 2 isoform b

      See identical proteins and their annotated locations for NP_001295010.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AC010462, AW009893, BX648369
      Consensus CDS
      CCDS78050.1
      UniProtKB/TrEMBL
      J3KND6
      Related
      ENSP00000302892.4, ENST00000304058.8
      Conserved Domains (1) summary
      pfam03942
      Location:7 → 186
      DTW; DTW domain

    2. NM_173666.4 → NP_775937.1  tRNA-uridine aminocarboxypropyltransferase 2 isoform a

      See identical proteins and their annotated locations for NP_775937.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC010462, AW009893, BC114508, HY055818
      Consensus CDS
      CCDS34216.1
      UniProtKB/Swiss-Prot
      J3KND6, Q8NBA8
      Related
      ENSP00000425048.1, ENST00000510708.6
      Conserved Domains (1) summary
      pfam03942
      Location:66 → 256
      DTW; DTW domain

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      118836074..118988547 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543338.4 → XP_011541640.3  tRNA-uridine aminocarboxypropyltransferase 2 isoform X1

      Conserved Domains (1) summary
      pfam03942
      Location:66 → 276
      DTW; DTW domain

    2. XM_011543340.3 → XP_011541642.1  tRNA-uridine aminocarboxypropyltransferase 2 isoform X2

      Conserved Domains (1) summary
      pfam03942
      Location:7 → 210
      DTW; DTW domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      119349130..119501614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352432.1 → XP_054208407.1  tRNA-uridine aminocarboxypropyltransferase 2 isoform X1

    2. XM_054352433.1 → XP_054208408.1  tRNA-uridine aminocarboxypropyltransferase 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBA8.1 GenPept UniProtKB/Swiss-Prot:Q8NBA8

    Gene LinkOut

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

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