• Gene id: 30846

Gene Summary

• Gene Symbol: EHD2   Gene   UCSC   Ensembl
• Aliases: PAST2
• Gene name: EH domain containing 2
• Alternate names: EH domain-containing protein 2, PAST homolog 2,
• Gene location: 19q13.33 (47713421: 47743133)     Exons: 6     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein

Protein Summary

• Protein general information: Q9NZN4  
  • Name: EH domain containing protein 2 (PAST homolog 2)
  • Length: 543  
  • Mass: 61161
  • Tissue specificity: Highly expressed in heart and moderately expressed in placenta, lung, and skeletal muscle. {ECO
• Sequence:

  MFSWLKRGGARGQQPEAIRTVTSALKELYRTKLLPLEEHYRFGAFHSPALEDADFDGKPMVLVAGQYSTGKTSFI
  QYLLEQEVPGSRVGPEPTTDCFVAVMHGDTEGTVPGNALVVDPDKPFRKLNPFGNTFLNRFMCAQLPNQVLESIS
  IIDTPGILSGAKQRVSRGYDFPAVLRWFAERVDLIILLFDAHKLEISDEFSEAIGALRGHEDKIRVVLNKADMVE
  TQQLMRVYGALMWALGKVVGTPEVLRVYIGSFWSQPLLVPDNRRLFELEEQDLFRDIQGLPRHAALRKLNDLVKR
  ARLVRVHAYIISYLKKEMPSVFGKENKKKQLILKLPVIFAKIQLEHHISPGDFPDCQKMQELLMAHDFTKFHSLK
  PKLLEALDEMLTHDIAKLMPLLRQEELESTEVGVQGGAFEGTHMGPFVERGPDEAMEDGEEGSDDEAEWVVTKDK
  SKYDEIFYNLAPADGKLSGSKAKTWMVGTKLPNSVLGRIWKLSDVDRDGMLDDEEFALASHLIEAKLEGHGLPAN
  LPRRLVPPSKRRHKGSAE

• Structural information:
  • Protein Domains: (55..28-)
    (/note="Dynamin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01055-)
    (449..53-)
    (/note="EH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (481..51-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR040990  IPR022812  IPR011992  IPR018247  IPR002048   IPR000261  IPR029945  IPR031692  IPR030381  IPR027417  
  • Prosite: PS00018 PS50222 PS50031 PS51718
  • CDD: cd00052
  • STRING: ENSP00000263277
• Other Databases: GeneCards:  EHD2  Malacards:  EHD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032456	endocytic recycling	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0055038	recycling endosome membrane	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0005769	early endosome	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0016197	endosomal transport	IBA	biological process
GO:0030139	endocytic vesicle	IBA	cellular component
GO:0019898	extrinsic component of membrane	ISS	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:2001137	positive regulation of endocytic recycling	ISS	biological process
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0097320	plasma membrane tubulation	ISS	biological process
GO:1901741	positive regulation of myoblast fusion	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
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:0005509	calcium ion binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0032456	endocytic recycling	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0003676	nucleic acid binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:2001137	positive regulation of endocytic recycling	IEA	biological process
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030866	cortical actin cytoskeleton organization	IEA	biological process
GO:0019898	extrinsic component of membrane	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:1901741	positive regulation of myoblast fusion	IEA	biological process
GO:0097320	plasma membrane tubulation	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0055038	recycling endosome membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0032456	endocytic recycling	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881