Dph2 DPH2 homolog [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dph2provided by MGI
Official Full Name: DPH2 homologprovided by MGI
Primary source: MGI:MGI:1914978
See related: Ensembl:ENSMUSG00000028540 AllianceGenome:MGI:1914978
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dph2l2; 9130020C19Rik
Summary: Predicted to enable 4 iron, 4 sulfur cluster binding activity. Predicted to contribute to 2-(3-amino-3-carboxypropyl)histidine synthase activity. Predicted to be involved in protein histidyl modification to diphthamide. Predicted to be part of 2-(3-amino-3-carboxypropyl)histidine synthase complex. Is expressed in liver lobe. Human ortholog(s) of this gene implicated in diphthamide deficiency syndrome 2. Orthologous to human DPH2 (diphthamide biosynthesis 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thymus adult (RPKM 10.0), spleen adult (RPKM 8.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D1; 4 53.74 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (117745838..117749220, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (117888643..117892003, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235012

AI467389 (e-PCR)
- UniSTS:159275

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2-(3-amino-3-carboxypropyl)histidine synthase activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in protein histidyl modification to diphthamide	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of 2-(3-amino-3-carboxypropyl)histidine synthase complex	IDA Inferred from Direct Assay more info	PubMed
part_of 2-(3-amino-3-carboxypropyl)histidine synthase complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cellular_component	ND No biological Data available more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2

Names: DPH2-like 2; S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase DPH2; diphthamide biosynthesis protein 2 homolog-like 2; diphtheria toxin resistance protein 2; diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1; diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 2

NP_001406090.1

EC 2.5.1.108

NP_080620.1

EC 2.5.1.108

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)

NM_001419161.1 → NP_001406090.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL627128
NM_026344.4 → NP_080620.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform 1

See identical proteins and their annotated locations for NP_080620.1

Status: VALIDATED

Source sequence(s)

AL627128

Consensus CDS

CCDS18541.1

UniProtKB/Swiss-Prot

Q8K0L8, Q9CR25

Related

ENSMUSP00000030265.4, ENSMUST00000030265.4

Conserved Domains (1) summary

TIGR00322
Location:32 → 368

diphth2_R; diphthamide biosynthesis enzyme Dph1/Dph2 domain