• Gene id: 8906

Gene Summary

• Gene Symbol: AP1G2   Gene   UCSC   Ensembl
• Aliases: G2AD
• Gene name: adaptor related protein complex 1 subunit gamma 2
• Alternate names: AP-1 complex subunit gamma-like 2, adaptor related protein complex 1 gamma 2 subunit, clathrin-associated/assembly/adaptor protein, large, gamma-2, gamma2-adaptin,
• Gene location: 14q11.2 (23567938: 23559564)     Exons: 24     NC_000014.9
• Gene summary(Entrez): Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha
• OMIM: 603534

Protein Summary

• Protein general information: O75843  
  • Name: AP 1 complex subunit gamma like 2 (Gamma2 adaptin) (G2ad)
  • Length: 785  
  • Mass: 87117
  • Tissue specificity: Expressed in all but one (skeletal muscle) tissues examined.
• Sequence:

  MVVPSLKLQDLIEEIRGAKTQAQEREVIQKECAHIRASFRDGDPVHRHRQLAKLLYVHMLGYPAHFGQMECLKLI
  ASSRFTDKRVGYLGAMLLLDERHDAHLLITNSIKNDLSQGIQPVQGLALCTLSTMGSAEMCRDLAPEVEKLLLQP
  SPYVRKKAILTAVHMIRKVPELSSVFLPPCAQLLHERHHGILLGTITLITELCERSPAALRHFRKVVPQLVHILR
  TLVTMGYSTEHSISGVSDPFLQVQILRLLRILGRNHEESSETMNDLLAQVATNTDTSRNAGNAVLFETVLTIMDI
  RSAAGLRVLAVNILGRFLLNSDRNIRYVALTSLLRLVQSDHSAVQRHRPTVVECLRETDASLSRRALELSLALVN
  SSNVRAMMQELQAFLESCPPDLRADCASGILLAAERFAPTKRWHIDTILHVLTTAGTHVRDDAVANLTQLIGGAQ
  ELHAYSVRRLYNALAEDISQQPLVQVAAWCIGEYGDLLLAGNCEEIEPLQVDEEEVLALLEKVLQSHMSLPATRG
  YALTALMKLSTRLCGDNNRIRQVVSIYGSCLDVELQQRAVEYDTLFRKYDHMRAAILEKMPLVERDGPQADEEAK
  ESKEAAQLSEAAPVPTEPQASQLLDLLDLLDGASGDVQHPPHLDPSPGGALVHLLDLPCVPPPPAPIPDLKVFER
  EGVQLNLSFIRPPENPALLLITITATNFSEGDVTHFICQAAVPKSLQLQLQAPSGNTVPARGGLPITQLFRILNP
  NKAPLRLKLRLTYDHFHQSVQEIFEVNNLPVESWQ

• Structural information:
  • Protein Domains: (665..78-)
    (/note="GAE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00093"-)
  • Interpro: IPR017107  IPR011989  IPR016024  IPR002553  IPR008152   IPR013041  IPR008153  
  • Prosite: PS50180
  • PDB: 2E9G 2YMT 3ZHF 4BCX
  • PDBsum: 2E9G 2YMT 3ZHF 4BCX
  • DIP: 31185
  • STRING: ENSP00000312442
• Other Databases: GeneCards:  AP1G2  Malacards:  AP1G2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0140312	cargo adaptor activity	IBA	molecular function
GO:0030121	AP-1 adaptor complex	IBA	cellular component
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0006896	Golgi to vacuole transport	IBA	biological process
GO:0035615	clathrin adaptor activity	IBA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0030121	AP-1 adaptor complex	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005794	Golgi apparatus	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005798	Golgi-associated vesicle	IDA	cellular component
GO:0030133	transport vesicle	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016192	vesicle-mediated transport	NAS	biological process
GO:0030121	AP-1 adaptor complex	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05170	Human immunodeficiency virus 1 infection
hsa04142	Lysosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq