DPH2
entrez
1802
canonical
uniprot
Q9BQC3
canonical
ensembl
ENSG00000132768
resolver
ensp
ENSP00000255108
resolver
ensp
ENSP00000379981
resolver
ensp
ENSP00000625975
resolver
genesymbol
DPH2
resolver
genesymbol_syn
DPH2L2
resolver
hgnc
HGNC:3004
resolver
uniprot
A8MVC9
resolver
uniprot
B2RDE3
resolver
uniprot
B3KRB8
resolver
uniprot
B4DNI8
resolver
uniprot
O60623
resolver
uniprot_entry
B3KRB8_HUMAN
resolver
uniprot_entry
DPH2_HUMAN
resolver
uniprot_sec
A8MVC9
resolver
uniprot_sec
B2RDE3
resolver
uniprot_sec
B4DNI8
resolver
uniprot_sec
O60623
resolver
amino_acid_sequence
MESMFSSPAEAALQRETGVPGLLTPLPDLDGVYELERVAGFVRDLGCERVALQFPDQLLGDAVAVAARLEETTGSKMFILGDTAYGSCCVDVLGAEQAGAQALIHFGPACLSPPARPLPVAFVLRQRSVALELCVKAFEAQNPDPKAPVVLLSEPACAHALEALATLLRPRYLDLLVSSPAFPQPVGSLSPEPMPLERFGRRFPLAPGRRLEEYGAFYVGGSKASPDPDLDPDLSRLLLGWAPGQPFSSCCPDTGKTQDEGARAGRLRARRRYLVERARDARVVGLLAGTLGVAQHREALAHLRNLTQAAGKRSYVLALGRPTPAKLANFPEVDVFVLLACPLGALAPQLSGSFFQPILAPCELEAACNPAWPPPGLAPHLTHYADLLPGSPFHVALPPPESELWETPDVSLITGDLRPPPAWKSSNDHGSLALTPRPQLELAESSPAASFLSSRSWQGLEPRLGQTPVTEAVSGRRGIAIAYEDEGSG
uniprot
proteins
disease_involvement
DISEASE: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 (DEDSSH2) [MIM:620062]: An autosomal recessive syndrome characterized by developmental delay with variably impaired intellectual development and speech delay, short stature, abnormal head circumference, dysmorphic facial features, and sparse scalp hair. Affected individuals may have other abnormalities, including congenital cardiac defects and distal skeletal anomalies. {ECO:0000269|PubMed:32576952}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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-methionine (SAM) to a histidine residue, the reaction is assisted by a reduction system comprising DPH3 and a NADH-dependent reductase (By similarity). Facilitates the reduction of the catalytic iron-sulfur cluster found in the DPH1 subunit (By similarity). {ECO:0000250|UniProtKB:P32461, ECO:0000269|PubMed:32576952}.
uniprot
proteins
mass_dalton
52083
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; peptidyl-diphthamide biosynthesis. {ECO:0000305|PubMed:32576952}.
uniprot
proteins
protein_family
DPH1/DPH2 family
uniprot
proteins
protein_family
DPH2 subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
32576952
uniprot
proteins
pubmed
9782084
uniprot
proteins
sequence_length
489
uniprot
proteins