DPH2

Protein identityUniProt · HPA

UniProt accession

Q9BQC3

Gene

DPH2

Ensembl

ENSG00000132768

Chromosome

1

Canonical length

489 aa

Protein class

Disease related genes, Predicted intracellular proteins

Subcellular location

Endoplasmic reticulum,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

489 residues, UniProt reviewed canonical sequence.

>Q9BQC3|DPH2
     1  MESMFSSPAE AALQRETGVP GLLTPLPDLD GVYELERVAG FVRDLGCERV ALQFPDQLLG
    61  DAVAVAARLE ETTGSKMFIL GDTAYGSCCV DVLGAEQAGA QALIHFGPAC LSPPARPLPV
   121  AFVLRQRSVA LELCVKAFEA QNPDPKAPVV LLSEPACAHA LEALATLLRP RYLDLLVSSP
   181  AFPQPVGSLS PEPMPLERFG RRFPLAPGRR LEEYGAFYVG GSKASPDPDL DPDLSRLLLG
   241  WAPGQPFSSC CPDTGKTQDE GARAGRLRAR RRYLVERARD ARVVGLLAGT LGVAQHREAL
   301  AHLRNLTQAA GKRSYVLALG RPTPAKLANF PEVDVFVLLA CPLGALAPQL SGSFFQPILA
   361  PCELEAACNP AWPPPGLAPH LTHYADLLPG SPFHVALPPP ESELWETPDV SLITGDLRPP
   421  PAWKSSNDHG SLALTPRPQL ELAESSPAAS FLSSRSWQGL EPRLGQTPVT EAVSGRRGIA
   481  IAYEDEGSG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DPH2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

31 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DPH2.

Disease | AllUniProt

Conditions DPH2 is implicated in, by any mechanism.

• Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 (DEDSSH2) MIM:620062

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 99 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
• diphthamide-deficiency syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.95

gnomAD pLI

0

gnomAD missense Z

0.76

DepMap mean gene effect

-0.26

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• protein histidyl modification to diphthamide

Molecular functions

• 2-(3-amino-3-carboxypropyl)histidine synthase activity
• 4 iron, 4 sulfur cluster binding
• metal ion binding

Cellular components

• 2-(3-amino-3-carboxypropyl)histidine synthase complex
• cytosol

Protein domainsUniProt · Pfam · InterPro

• Diphthamide synthesis DPH1/DPH2
• Diphthamide synthesis DPH1/DPH2, domain 1
• Diphthamide synthesis DPH1/DPH2, domain 3
• Putative diphthamide synthesis protein
• Diphthamide synthesis DHP2

KeywordsUniProt

• Acetylation
• Dwarfism
• Ectodermal dysplasia
• Hypotrichosis
• Intellectual disability
• Iron
• Iron-sulfur
• Metal-binding
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of DPH2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DPH1
• HSPA8