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    DPH2 diphthamide biosynthesis 2 [ Homo sapiens (human) ]

    Gene ID: 1802, updated on 27-Nov-2024

    Summary

    Official Symbol
    DPH2provided by HGNC
    Official Full Name
    diphthamide biosynthesis 2provided by HGNC
    Primary source
    HGNC:HGNC:3004
    See related
    Ensembl:ENSG00000132768 MIM:603456; AllianceGenome:HGNC:3004
    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
    DPH2L2; DEDSSH2
    Summary
    This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.6), appendix (RPKM 6.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DPH2 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43970010..43973369)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43841090..43844449)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44435682..44439041)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 796 Neighboring gene importin 13 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44426574-44427773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44436478-44437024 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44437355-44438554 Neighboring gene uncharacterized LOC124904167 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44439785-44440618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44440619-44441451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44443584-44444175 Neighboring gene ATPase H+ transporting V0 subunit b Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44444176-44444766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44444767-44445358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44447723-44448312 Neighboring gene beta-1,4-galactosyltransferase 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2-(3-amino-3-carboxypropyl)histidine synthase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    contributes_to 2-(3-amino-3-carboxypropyl)histidine synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables 4 iron, 4 sulfur cluster binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein histidyl modification to diphthamide IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein histidyl modification to diphthamide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein histidyl modification to diphthamide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein histidyl modification to diphthamide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein histidyl modification to diphthamide TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    part_of 2-(3-amino-3-carboxypropyl)histidine synthase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    2-(3-amino-3-carboxypropyl)histidine synthase subunit 2
    Names
    DPH2 homolog
    DPH2-like 2
    S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2
    diphthamide biosynthesis protein 2 homolog-like 2
    diphthamide biosynthesis-like protein 2
    diphtheria toxin resistance protein 2
    diptheria toxin resistance protein required for diphthamide biosynthesis-like 2
    NP_001034678.1
    NP_001306094.1
    NP_001306095.1
    NP_001306096.1
    NP_001306097.1
    NP_001306098.1
    NP_001306099.1
    NP_001306100.1
    NP_001375.2
    XP_047304023.1
    XP_047304026.1
    XP_054190773.1
    XP_054190774.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001039589.2NP_001034678.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform b

      See identical proteins and their annotated locations for NP_001034678.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AA252672, AL357079
      Consensus CDS
      CCDS41314.1
      UniProtKB/Swiss-Prot
      Q9BQC3
      Related
      ENSP00000379981.2, ENST00000396758.6
      Conserved Domains (1) summary
      cl19374
      Location:32162
      Diphthamide_syn; Putative diphthamide synthesis protein
    2. NM_001319165.2NP_001306094.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 6 both encode the same isoform (c).
      Source sequence(s)
      AA252672, AK091303, BQ056213, DA906783
      UniProtKB/TrEMBL
      B3KRB8
      Conserved Domains (1) summary
      TIGR00322
      Location:2292
      diphth2_R; diphthamide biosynthesis enzyme Dph1/Dph2 domain
    3. NM_001319166.2NP_001306095.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AA252672, AK091303, AK315506, BG385934
      UniProtKB/Swiss-Prot
      Q9BQC3
      UniProtKB/TrEMBL
      B3KRB8
      Conserved Domains (1) summary
      TIGR00322
      Location:32277
      diphth2_R; diphthamide biosynthesis enzyme Dph1/Dph2 domain
    4. NM_001319167.2NP_001306096.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses two alternate splice junctions compared to variant 1. The resulting isoform (e) is shorter at the N-terminus compared to isoform a. Variants 5 and 8 both encode the same isoform (e).
      Source sequence(s)
      AA252672, AK091303, AL357079, BG747150
      UniProtKB/TrEMBL
      H0YCR5
      Conserved Domains (1) summary
      cl19374
      Location:7290
      Diphthamide_syn; Putative diphthamide synthesis protein
    5. NM_001319168.2NP_001306097.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 6 both encode the same isoform (c).
      Source sequence(s)
      AA252672, AK091303, CX164803
      UniProtKB/TrEMBL
      B3KRB8
      Conserved Domains (1) summary
      TIGR00322
      Location:2292
      diphth2_R; diphthamide biosynthesis enzyme Dph1/Dph2 domain
    6. NM_001319169.2NP_001306098.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate exon compared to variant 1. The resulting isoform (f) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AA252672, AK091303, AK297933
      UniProtKB/Swiss-Prot
      Q9BQC3
      UniProtKB/TrEMBL
      B3KRB8
      Conserved Domains (1) summary
      cl19374
      Location:65348
      Diphthamide_syn; Putative diphthamide synthesis protein
    7. NM_001319170.2NP_001306099.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses an alternate splice junction compared to variant 1. The resulting isoform (e) is shorter at the N-terminus compared to isoform a. Variants 5 and 8 both encode the same isoform (e).
      Source sequence(s)
      AA252672, AK091303, BG472282, DA906783
      UniProtKB/TrEMBL
      H0YCR5
      Conserved Domains (1) summary
      cl19374
      Location:7290
      Diphthamide_syn; Putative diphthamide synthesis protein
    8. NM_001319171.2NP_001306100.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) uses an alternate splice junction compared to variant 1. The resulting isoform (g) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AA252672, AK091303, AL357079, BM564151, DA906783
      UniProtKB/TrEMBL
      B3KRB8
      Conserved Domains (1) summary
      cl19374
      Location:52335
      Diphthamide_syn; Putative diphthamide synthesis protein
    9. NM_001384.5NP_001375.2  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform a

      See identical proteins and their annotated locations for NP_001375.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AA252672, AL357079
      Consensus CDS
      CCDS504.1
      UniProtKB/Swiss-Prot
      A8MVC9, B2RDE3, B4DNI8, O60623, Q9BQC3
      Related
      ENSP00000255108.3, ENST00000255108.8
      Conserved Domains (1) summary
      TIGR00322
      Location:32368
      diphth2_R; diphthamide biosynthesis enzyme Dph1/Dph2 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      43970010..43973369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448067.1XP_047304023.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform X1

    2. XM_047448070.1XP_047304026.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      43841090..43844449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334798.1XP_054190773.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform X1

    2. XM_054334799.1XP_054190774.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_201399.1: Suppressed sequence

      Description
      NM_201399.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.