Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1802
Gene name	Diphthamide biosynthesis 2
Gene symbol	DPH2
Synonyms (NCBI Gene)	DEDSSH2DPH2L2
Chromosome	1
Chromosome location	1p34.1
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 modi

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miRTarBase ID	miRNA	Experiments	Reference
MIRT039820	hsa-miR-615-3p	CLASH	23622248
MIRT461612	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT461611	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT461610	hsa-miR-6871-5p	PAR-CLIP	23592263
MIRT461608	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT461609	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT461606	hsa-miR-6086	PAR-CLIP	23592263
MIRT461607	hsa-miR-6132	PAR-CLIP	23592263
MIRT461604	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT461605	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT461602	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT461603	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT461601	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT461599	hsa-miR-4736	PAR-CLIP	23592263
MIRT461600	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT461598	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT461597	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT461596	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT461595	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT461594	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT461593	hsa-miR-4525	PAR-CLIP	23592263
MIRT461592	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT461591	hsa-miR-7150	PAR-CLIP	23592263
MIRT461590	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT461589	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT461588	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT461587	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT461586	hsa-miR-3689c	PAR-CLIP	23592263
MIRT461585	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT461584	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT461612	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT461611	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT461610	hsa-miR-6871-5p	PAR-CLIP	23592263
MIRT461608	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT461609	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT461606	hsa-miR-6086	PAR-CLIP	23592263
MIRT461607	hsa-miR-6132	PAR-CLIP	23592263
MIRT461604	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT461605	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT461602	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT461603	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT461601	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT461599	hsa-miR-4736	PAR-CLIP	23592263
MIRT461600	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT461598	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT461597	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT461596	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT461595	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT461594	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT461593	hsa-miR-4525	PAR-CLIP	23592263
MIRT461592	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT461591	hsa-miR-7150	PAR-CLIP	23592263
MIRT461590	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT461589	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT461588	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT461587	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT461586	hsa-miR-3689c	PAR-CLIP	23592263
MIRT461585	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT461584	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT943846	hsa-miR-125a-5p	CLIP-seq
MIRT943847	hsa-miR-125b	CLIP-seq
MIRT943848	hsa-miR-1266	CLIP-seq
MIRT943849	hsa-miR-134	CLIP-seq
MIRT943850	hsa-miR-198	CLIP-seq
MIRT943851	hsa-miR-2114	CLIP-seq
MIRT943852	hsa-miR-299-5p	CLIP-seq
MIRT943853	hsa-miR-3118	CLIP-seq
MIRT943854	hsa-miR-3120-5p	CLIP-seq
MIRT943855	hsa-miR-3126-3p	CLIP-seq
MIRT943856	hsa-miR-3136-5p	CLIP-seq
MIRT943857	hsa-miR-3143	CLIP-seq
MIRT943858	hsa-miR-3164	CLIP-seq
MIRT943859	hsa-miR-361-3p	CLIP-seq
MIRT943860	hsa-miR-3679-3p	CLIP-seq
MIRT943861	hsa-miR-4251	CLIP-seq
MIRT943862	hsa-miR-4270	CLIP-seq
MIRT943863	hsa-miR-4287	CLIP-seq
MIRT943864	hsa-miR-4319	CLIP-seq
MIRT943865	hsa-miR-4324	CLIP-seq
MIRT943866	hsa-miR-4439	CLIP-seq
MIRT943867	hsa-miR-4441	CLIP-seq
MIRT943868	hsa-miR-4446-5p	CLIP-seq
MIRT943869	hsa-miR-4469	CLIP-seq
MIRT943870	hsa-miR-4501	CLIP-seq
MIRT943871	hsa-miR-4513	CLIP-seq
MIRT943872	hsa-miR-4518	CLIP-seq
MIRT943873	hsa-miR-4539	CLIP-seq
MIRT943874	hsa-miR-4662a-5p	CLIP-seq
MIRT943875	hsa-miR-4679	CLIP-seq
MIRT943876	hsa-miR-4685-3p	CLIP-seq
MIRT943877	hsa-miR-4687-3p	CLIP-seq
MIRT943878	hsa-miR-4695-3p	CLIP-seq
MIRT943879	hsa-miR-4732-3p	CLIP-seq
MIRT943880	hsa-miR-4738-3p	CLIP-seq
MIRT943881	hsa-miR-513a-3p	CLIP-seq
MIRT943882	hsa-miR-520a-5p	CLIP-seq
MIRT943883	hsa-miR-525-5p	CLIP-seq
MIRT943884	hsa-miR-539	CLIP-seq
MIRT943885	hsa-miR-543	CLIP-seq
MIRT943886	hsa-miR-548m	CLIP-seq
MIRT943887	hsa-miR-626	CLIP-seq
MIRT943888	hsa-miR-670	CLIP-seq
MIRT943857	hsa-miR-3143	CLIP-seq
MIRT943885	hsa-miR-543	CLIP-seq
MIRT1979509	hsa-miR-1270	CLIP-seq
MIRT1979510	hsa-miR-3145-3p	CLIP-seq
MIRT1979511	hsa-miR-3663-3p	CLIP-seq
MIRT1979512	hsa-miR-4480	CLIP-seq
MIRT1979513	hsa-miR-4663	CLIP-seq
MIRT1979514	hsa-miR-4683	CLIP-seq
MIRT1979515	hsa-miR-514	CLIP-seq
MIRT1979516	hsa-miR-514b-3p	CLIP-seq
MIRT1979517	hsa-miR-516b	CLIP-seq
MIRT1979518	hsa-miR-620	CLIP-seq
MIRT1979519	hsa-miR-659	CLIP-seq
MIRT943846	hsa-miR-125a-5p	CLIP-seq
MIRT943847	hsa-miR-125b	CLIP-seq
MIRT1979510	hsa-miR-3145-3p	CLIP-seq
MIRT2214598	hsa-miR-323b-5p	CLIP-seq
MIRT943861	hsa-miR-4251	CLIP-seq
MIRT943863	hsa-miR-4287	CLIP-seq
MIRT943864	hsa-miR-4319	CLIP-seq
MIRT943865	hsa-miR-4324	CLIP-seq
MIRT943869	hsa-miR-4469	CLIP-seq
MIRT943875	hsa-miR-4679	CLIP-seq
MIRT943876	hsa-miR-4685-3p	CLIP-seq
MIRT943878	hsa-miR-4695-3p	CLIP-seq
MIRT943879	hsa-miR-4732-3p	CLIP-seq
MIRT943884	hsa-miR-539	CLIP-seq
MIRT1979519	hsa-miR-659	CLIP-seq
MIRT943888	hsa-miR-670	CLIP-seq
MIRT2214598	hsa-miR-323b-5p	CLIP-seq
MIRT2518898	hsa-miR-1184	CLIP-seq
MIRT2518899	hsa-miR-1292	CLIP-seq
MIRT2518900	hsa-miR-1343	CLIP-seq
MIRT2518901	hsa-miR-1587	CLIP-seq
MIRT943850	hsa-miR-198	CLIP-seq
MIRT2518902	hsa-miR-2467-3p	CLIP-seq
MIRT2518903	hsa-miR-2964a-5p	CLIP-seq
MIRT2518904	hsa-miR-3187-3p	CLIP-seq
MIRT2518905	hsa-miR-3591-5p	CLIP-seq
MIRT2518906	hsa-miR-3664-3p	CLIP-seq
MIRT2518907	hsa-miR-3677-5p	CLIP-seq
MIRT2518908	hsa-miR-378g	CLIP-seq
MIRT2518909	hsa-miR-3926	CLIP-seq
MIRT2518910	hsa-miR-4290	CLIP-seq
MIRT2518911	hsa-miR-4418	CLIP-seq
MIRT2518912	hsa-miR-4435	CLIP-seq
MIRT2518913	hsa-miR-4460	CLIP-seq
MIRT2518914	hsa-miR-4471	CLIP-seq
MIRT2518915	hsa-miR-4492	CLIP-seq
MIRT2518916	hsa-miR-4498	CLIP-seq
MIRT2518917	hsa-miR-4646-5p	CLIP-seq
MIRT2518918	hsa-miR-4656	CLIP-seq
MIRT943874	hsa-miR-4662a-5p	CLIP-seq
MIRT2518919	hsa-miR-4675	CLIP-seq
MIRT2518920	hsa-miR-4701-5p	CLIP-seq
MIRT2518921	hsa-miR-4727-3p	CLIP-seq
MIRT2518922	hsa-miR-4727-5p	CLIP-seq
MIRT943880	hsa-miR-4738-3p	CLIP-seq
MIRT2518923	hsa-miR-4741	CLIP-seq
MIRT2518924	hsa-miR-509-3-5p	CLIP-seq
MIRT2518925	hsa-miR-509-5p	CLIP-seq
MIRT943881	hsa-miR-513a-3p	CLIP-seq
MIRT943882	hsa-miR-520a-5p	CLIP-seq
MIRT943883	hsa-miR-525-5p	CLIP-seq
MIRT943884	hsa-miR-539	CLIP-seq
MIRT2518926	hsa-miR-544	CLIP-seq
MIRT2518927	hsa-miR-548s	CLIP-seq
MIRT2518928	hsa-miR-588	CLIP-seq
MIRT2518929	hsa-miR-661	CLIP-seq
MIRT2518930	hsa-miR-7	CLIP-seq
MIRT2518931	hsa-miR-762	CLIP-seq
MIRT2518932	hsa-miR-873	CLIP-seq
MIRT2679413	hsa-miR-1183	CLIP-seq
MIRT2518898	hsa-miR-1184	CLIP-seq
MIRT2679414	hsa-miR-1243	CLIP-seq
MIRT2679415	hsa-miR-1275	CLIP-seq
MIRT2518899	hsa-miR-1292	CLIP-seq
MIRT2518900	hsa-miR-1343	CLIP-seq
MIRT2679416	hsa-miR-148a	CLIP-seq
MIRT2679417	hsa-miR-148b	CLIP-seq
MIRT2679418	hsa-miR-152	CLIP-seq
MIRT2518901	hsa-miR-1587	CLIP-seq
MIRT2518902	hsa-miR-2467-3p	CLIP-seq
MIRT2518903	hsa-miR-2964a-5p	CLIP-seq
MIRT2518904	hsa-miR-3187-3p	CLIP-seq
MIRT2518905	hsa-miR-3591-5p	CLIP-seq
MIRT2679419	hsa-miR-3654	CLIP-seq
MIRT2518906	hsa-miR-3664-3p	CLIP-seq
MIRT2679420	hsa-miR-3665	CLIP-seq
MIRT2518907	hsa-miR-3677-5p	CLIP-seq
MIRT2518908	hsa-miR-378g	CLIP-seq
MIRT2518909	hsa-miR-3926	CLIP-seq
MIRT2518910	hsa-miR-4290	CLIP-seq
MIRT2518911	hsa-miR-4418	CLIP-seq
MIRT2518912	hsa-miR-4435	CLIP-seq
MIRT2518913	hsa-miR-4460	CLIP-seq
MIRT2518914	hsa-miR-4471	CLIP-seq
MIRT2518915	hsa-miR-4492	CLIP-seq
MIRT2518916	hsa-miR-4498	CLIP-seq
MIRT2679421	hsa-miR-4502	CLIP-seq
MIRT2679422	hsa-miR-4520a-3p	CLIP-seq
MIRT2679423	hsa-miR-4638-3p	CLIP-seq
MIRT2518917	hsa-miR-4646-5p	CLIP-seq
MIRT2518918	hsa-miR-4656	CLIP-seq
MIRT943874	hsa-miR-4662a-5p	CLIP-seq
MIRT2679424	hsa-miR-4665-5p	CLIP-seq
MIRT2518919	hsa-miR-4675	CLIP-seq
MIRT2518920	hsa-miR-4701-5p	CLIP-seq
MIRT2679425	hsa-miR-4723-5p	CLIP-seq
MIRT2518921	hsa-miR-4727-3p	CLIP-seq
MIRT943880	hsa-miR-4738-3p	CLIP-seq
MIRT2518923	hsa-miR-4741	CLIP-seq
MIRT2679426	hsa-miR-4762-3p	CLIP-seq
MIRT2518924	hsa-miR-509-3-5p	CLIP-seq
MIRT2518925	hsa-miR-509-5p	CLIP-seq
MIRT943881	hsa-miR-513a-3p	CLIP-seq
MIRT2679427	hsa-miR-520f	CLIP-seq
MIRT943884	hsa-miR-539	CLIP-seq
MIRT2518927	hsa-miR-548s	CLIP-seq
MIRT2518928	hsa-miR-588	CLIP-seq
MIRT2679428	hsa-miR-601	CLIP-seq
MIRT2679429	hsa-miR-625	CLIP-seq
MIRT2679430	hsa-miR-637	CLIP-seq
MIRT2679431	hsa-miR-657	CLIP-seq
MIRT2518929	hsa-miR-661	CLIP-seq
MIRT2518930	hsa-miR-7	CLIP-seq
MIRT2518931	hsa-miR-762	CLIP-seq
MIRT2518932	hsa-miR-873	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0017183	Process	Protein histidyl modification to diphthamide	IBA
GO:0017183	Process	Protein histidyl modification to diphthamide	IEA
GO:0017183	Process	Protein histidyl modification to diphthamide	IMP	32576952
GO:0017183	Process	Protein histidyl modification to diphthamide	ISS
GO:0017183	Process	Protein histidyl modification to diphthamide	TAS
GO:0032991	Component	Protein-containing complex	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	ISS
GO:0090560	Function	2-(3-amino-3-carboxypropyl)histidine synthase activity	EXP	20559380
GO:0090560	Function	2-(3-amino-3-carboxypropyl)histidine synthase activity	IEA
GO:0090560	Function	2-(3-amino-3-carboxypropyl)histidine synthase activity	ISS
GO:0120513	Component	2-(3-amino-3-carboxypropyl)histidine synthase complex	IEA
GO:0120513	Component	2-(3-amino-3-carboxypropyl)histidine synthase complex	ISS

MIM	HGNC	e!Ensembl
603456	3004	ENSG00000132768

Q9BQC3

Protein name

2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 (Diphthamide biosynthesis protein 2) (Diphtheria toxin resistance protein 2) (S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2)

Protein function

Required for the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2 (PubMed:32576952). DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methion

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01866	Diphthamide_syn	54 → 375	Putative diphthamide synthesis protein	Family

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in skeletal muscle. Moderately expressed in heart, small intestine, liver, pancreas, testis and colon. Weakly expressed in brain, placenta, kidney, spleen, thymus, prostate, ovary and lymphocytes. {ECO:0000269|PubMed

Sequence

MESMFSSPAEAALQRETGVPGLLTPLPDLDGVYELERVAGFVRDLGCERVALQFPDQLLG
DAVAVAARLEETTGSKMFILGDTAYGSCCVDVLGAEQAGAQALIHFGPACLSPPARPLPV
AFVLRQRSVALELCVKAFEAQNPDPKAPVVLLSEPACAHALEALATLLRPRYLDLLVSSP
AFPQPVGSLSPEPMPLERFGRRFPLAPGRRLEEYGAFYVGGSKASPDPDLDPDLSRLLLG
WAPGQPFSSCCPDTGKTQDEGARAGRLRARRRYLVERARDARVVGLLAGTLGVAQHREAL
AHLRNLTQAAGKRSYVLALGRPTPAKLANFPEVDVFVLLACPLGALAPQLSGSFFQPILA
PCELEAACNPAWPPPGLAPHLTHYADLLPGSPFHVALPPPESELWETPDVSLITGDLRPP
PAWKSSNDHGSLALTPRPQLELAESSPAASFLSSRSWQGLEPRLGQTPVTEAVSGRRGIA
IAYEDEGSG

Sequence length

489

Interactions

View interactions

	Reactome
			Synthesis of diphthamide-EEF2

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental delay with short stature, dysmorphic facial features, and sparse hair 2	Likely pathogenic	rs577890255, rs2529100401, rs1557642000	RCV002287531 RCV003448747 RCV003990646	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
diphthamide-deficiency syndrome	Likely pathogenic	rs577890255	RCV002250397	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CRANIOFACIAL DYSPLASIA, SHORT STATURE, ECTODERMAL ANOMALIES, INTELLECTUAL DISABILITY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Macrocephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular septal defect	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Cafe au Lait Spots	Associate	25329635	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	38097948	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	30877278	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Associate	38097948	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Associate	38097948	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndrome	Associate	30877278, 32576952	★★★★★ ★☆☆☆☆ Found in Text Mining only

DPH2 (diphthamide biosynthesis 2)