• Gene id: 23062

Gene Summary

• Gene Symbol: GGA2   Gene   UCSC   Ensembl
• Aliases: VEAR
• Gene name: golgi associated, gamma adaptin ear containing, ARF binding protein 2
• Alternate names: ADP-ribosylation factor-binding protein GGA2, VHS domain and ear domain of gamma-adaptin, VHS domain and ear domain-containing protein, gamma-adaptin-related protein 2, golgi-localized, gamma ear-containing, ARF-binding protein 2,
• Gene location: 16p12.2 (23510493: 23463541)     Exons: 18     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These prot
• OMIM: 140210

Protein Summary

• Protein general information: Q9UJY4  
  • Name: ADP ribosylation factor binding protein GGA2 (Gamma adaptin related protein 2) (Golgi localized, gamma ear containing, ARF binding protein 2) (VHS domain and ear domain of gamma adaptin) (Vear)
  • Length: 613  
  • Mass: 67150
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MAATAVAAAVAGTESAQGPPGPAASLELWLNKATDPSMSEQDWSAIQNFCEQVNTDPNGPTHAPWLLAHKIQSPQ
  EKEALYALTVLEMCMNHCGEKFHSEVAKFRFLNELIKVLSPKYLGSWATGKVKGRVIEILFSWTVWFPEDIKIRD
  AYQMLKKQGIIKQDPKLPVDKILPPPSPWPKSSIFDADEEKSKLLTRLLKSNHPEDLQAANRLIKNLVKEEQEKS
  EKVSKRVSAVEEVRSHVKVLQEMLSMYRRPGQAPPDQEALQVVYERCEKLRPTLFRLASDTTDDDDALAEILQAN
  DLLTQGVLLYKQVMEGRVTFGNRVTSSLGDIPVSRVFQNPAGCMKTCPLIDLEVDNGPAQMGTVVPSLLHQDLAA
  LGISDAPVTGMVSGQNCCEEKRNPSSSTLPGGGVQNPSADRNLLDLLSAQPAPCPLNYVSQKSVPKEVPPGTKSS
  PGWSWEAGPLAPSPSSQNTPLAQVFVPLESVKPSSLPPLIVYDRNGFRILLHFSQTGAPGHPEVQVLLLTMMSTA
  PQPVWDIMFQVAVPKSMRVKLQPASSSKLPAFSPLMPPAVISQMLLLDNPHKEPIRLRYKLTFNQGGQPFSEVGE
  VKDFPDLAVLGAA

• Structural information:
  • Protein Domains: (33..16-)
    (/note="VHS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00218-)
    (188..31-)
    (/note="GAT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00373-)
    (484..60-)
    (/note="GAE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00093"-)
  • Interpro: IPR008152  IPR013041  IPR008942  IPR008153  IPR004152   IPR038425  IPR041198  IPR002014  
  • Prosite: PS50180 PS50909 PS50179
  • PDB: 1MHQ
  • PDBsum: 1MHQ
  • DIP: 31601
  • STRING: ENSP00000311962
• Other Databases: GeneCards:  GGA2  Malacards:  GGA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0043001	Golgi to plasma membrane protein transport	IDA	biological process
GO:0034394	protein localization to cell surface	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0030306	ADP-ribosylation factor binding	IDA	molecular function
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0031901	early endosome membrane	TAS	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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0030306	ADP-ribosylation factor binding	IDA	molecular function
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0006886	intracellular protein transport	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq