• Gene id: 1802

Gene Summary

• Gene Symbol: DPH2   Gene   UCSC   Ensembl
• Aliases: DPH2L2
• Gene name: diphthamide biosynthesis 2
• Alternate names: 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2, DPH2 homolog, DPH2-like 2, S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2, diphthamide biosynthesis protein 2 homolog-like 2, diphthamide biosynthesis-like protein 2, diphtheria ,
• Gene location: 1p34.1 (43969996: 43973368)     Exons: 5     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 603456

Protein Summary

• Protein general information: Q9BQC3  
  • Name: 2 (3 amino 3 carboxypropyl)histidine synthase subunit 2 (EC 2.5.1.108) (Diphthamide biosynthesis protein 2) (Diphtheria toxin resistance protein 2) (S adenosyl L methionine:L histidine 3 amino 3 carboxypropyltransferase 2)
  • Length: 489  
  • Mass: 52083
  • 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
• Sequence:

  MESMFSSPAEAALQRETGVPGLLTPLPDLDGVYELERVAGFVRDLGCERVALQFPDQLLGDAVAVAARLEETTGS
  KMFILGDTAYGSCCVDVLGAEQAGAQALIHFGPACLSPPARPLPVAFVLRQRSVALELCVKAFEAQNPDPKAPVV
  LLSEPACAHALEALATLLRPRYLDLLVSSPAFPQPVGSLSPEPMPLERFGRRFPLAPGRRLEEYGAFYVGGSKAS
  PDPDLDPDLSRLLLGWAPGQPFSSCCPDTGKTQDEGARAGRLRARRRYLVERARDARVVGLLAGTLGVAQHREAL
  AHLRNLTQAAGKRSYVLALGRPTPAKLANFPEVDVFVLLACPLGALAPQLSGSFFQPILAPCELEAACNPAWPPP
  GLAPHLTHYADLLPGSPFHVALPPPESELWETPDVSLITGDLRPPPAWKSSNDHGSLALTPRPQLELAESSPAAS
  FLSSRSWQGLEPRLGQTPVTEAVSGRRGIAIAYEDEGSG

• Structural information:
  • Interpro: IPR010014  IPR016435  IPR042263  IPR042264  IPR042265  
  • STRING: ENSP00000255108
• Other Databases: GeneCards:  DPH2  Malacards:  DPH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IBA	biological process
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0090560	2-(3-amino-3-carboxypropyl)histidine synthase activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R