DPH2 - diphthamide biosynthesis 2 Gene

Homo sapiens

Also known as DPH2L2; DEDSSH2

Gene ID: 1802 | Gene type: protein coding

About DPH2

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:43,970,010-43,973,369 (from NCBI)

This gene has 17 transcripts (splice variants), 200 orthologues and 1 paralogue. Ubiquitous expression in lymph node (RPKM 6.6), appendix (RPKM 6.4) and 25 other tissues.

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]

DPH2 Products(9)

mRNA	Protein	Name
NM_001039589.2	NP_001034678.1	2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform b
NM_001319165.2	NP_001306094.1	2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform c
NM_001319166.2	NP_001306095.1	2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform d
NM_001319167.2	NP_001306096.1	2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform e
NM_001319168.2	NP_001306097.1	2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform c
NM_001319169.2	NP_001306098.1	2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform f
NM_001319170.2	NP_001306099.1	2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform e
NM_001319171.2	NP_001306100.1	2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform g
NM_001384.5	NP_001375.2	2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables 2-(3-amino-3-carboxypropyl)histidine synthase activity	EXP EXP: Inferred from Experiment	20559380	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein histidyl modification to diphthamide	IMP IMP: Inferred from mutant phenotype	32576952	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DPH2 Protein Structure

Diphthamide_syn

0
100
200
300
400
489 a.a.

Protein Preferred Names

Protein Names

2-(3-amino-3-carboxypropyl)histidine synthase subunit 2

DPH2 homolog

DPH2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	DPH2	Q9BQC3	IL17A	Homo sapiens	Q16552	Validated Y2H	25416956
Intra	DPH2	Q9BQC3	IL17A	Homo sapiens	Q16552	Y2H Array	25416956
Intra	DPH2	Q9BQC3	NEK6	Homo sapiens	Q9HC98-4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2

DEDSSH2

Diphthamide Deficiency Syndrome 2

Diphtheria

Corynebacterium Infections	Corynebacterium Infection
Diphtherial Infection	Infection Due To Corynebacterium Diphtheriae

Immunodeficiency 24

Severe Combined Immunodeficiency Due To Ctps1 Deficiency	IMD24
Scid Due To Ctps1 Deficiency	Immunodeficiency, Type 24

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1	Jeune Syndrome
SRTD1	Atd1
Asphyxiating Thoracic Dystrophy Of The Newborn	Jatd
Jeune Asphyxiating Thoracic Dystrophy	Thoracic-Pelvic-Phalangeal Dystrophy
Atd	Asphyxiating Thoracic Dystrophy
Chondroectodermal Dysplasia-Like Syndrome	Infantile Thoracic Dystrophy
Jeune'S Syndrome	Thoracic Pelvic Phalangeal Dystrophy
Jeune Thoracic Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03953	DPH2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DPH2	VGNC	VGNC:28179
Macaca mulatta	DPH2	VGNC	VGNC:71974
Felis catus	DPH2	VGNC	VGNC:61597
Canis familiaris	DPH2	VGNC	VGNC:40068
Mus musculus	DPH2	MGD	MGI:1914978
Rattus norvegicus	DPH2	RGD	RGD:1304634

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