Format

Send to:

Choose Destination

DPH2 diphthamide biosynthesis 2 [ Homo sapiens (human) ]

Gene ID: 1802, updated on 13-Mar-2020

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
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
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

Genomic context

See DPH2 in Genome Data Viewer
Location:
1p34.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (43969997..43973369)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44435653..44439043)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378688 Neighboring gene uncharacterized LOC101929609 Neighboring gene importin 13 Neighboring gene ATPase H+ transporting V0 subunit b 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2-(3-amino-3-carboxypropyl)histidine synthase activity EXP
Inferred from Experiment
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
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_016855991.1

NCBI Reference Sequences (RefSeq)

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
    B3KRB8
    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
    B3KRB8
    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
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    43969997..43973369
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000502.2XP_016855991.1  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.
Support Center