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

Gene ID: 285605, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 4.3), kidney (RPKM 2.3) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
5q23.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (118836074..118988547, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (119349130..119501614, complement)
105.20220307 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
  • 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 (22) 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 IEA
Inferred from Electronic Annotation
more info
  
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_2023_10

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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