Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8906
Gene name	Adaptor related protein complex 1 subunit gamma 2
Gene symbol	AP1G2
Synonyms (NCBI Gene)	G2AD
Chromosome	14
Chromosome location	14q11.2
Summary	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

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miRTarBase ID	miRNA	Experiments
MIRT787096	hsa-miR-1302	CLIP-seq
MIRT787097	hsa-miR-138	CLIP-seq
MIRT787098	hsa-miR-3122	CLIP-seq
MIRT787099	hsa-miR-3155	CLIP-seq
MIRT787100	hsa-miR-3155b	CLIP-seq
MIRT787101	hsa-miR-339-3p	CLIP-seq
MIRT787102	hsa-miR-370	CLIP-seq
MIRT787103	hsa-miR-3913-5p	CLIP-seq
MIRT787104	hsa-miR-4298	CLIP-seq
MIRT787105	hsa-miR-4768-3p	CLIP-seq
MIRT787106	hsa-miR-484	CLIP-seq
MIRT787107	hsa-miR-518a-5p	CLIP-seq
MIRT787108	hsa-miR-527	CLIP-seq
MIRT1932185	hsa-miR-1266	CLIP-seq
MIRT1932186	hsa-miR-148a	CLIP-seq
MIRT1932187	hsa-miR-148b	CLIP-seq
MIRT1932188	hsa-miR-152	CLIP-seq
MIRT1932189	hsa-miR-1587	CLIP-seq
MIRT787099	hsa-miR-3155	CLIP-seq
MIRT787100	hsa-miR-3155b	CLIP-seq
MIRT1932190	hsa-miR-3664-3p	CLIP-seq
MIRT1932191	hsa-miR-450b-5p	CLIP-seq
MIRT1932192	hsa-miR-4518	CLIP-seq
MIRT1932193	hsa-miR-4674	CLIP-seq
MIRT787106	hsa-miR-484	CLIP-seq
MIRT1932194	hsa-miR-507	CLIP-seq
MIRT1932195	hsa-miR-557	CLIP-seq
MIRT787097	hsa-miR-138	CLIP-seq
MIRT787099	hsa-miR-3155	CLIP-seq
MIRT787100	hsa-miR-3155b	CLIP-seq
MIRT787101	hsa-miR-339-3p	CLIP-seq
MIRT787102	hsa-miR-370	CLIP-seq
MIRT787106	hsa-miR-484	CLIP-seq
MIRT1932189	hsa-miR-1587	CLIP-seq
MIRT787099	hsa-miR-3155	CLIP-seq
MIRT787100	hsa-miR-3155b	CLIP-seq
MIRT2443746	hsa-miR-4265	CLIP-seq
MIRT2443747	hsa-miR-4296	CLIP-seq
MIRT2443748	hsa-miR-4322	CLIP-seq
MIRT2443749	hsa-miR-4648	CLIP-seq
MIRT2443750	hsa-miR-4654	CLIP-seq
MIRT1932193	hsa-miR-4674	CLIP-seq
MIRT2443751	hsa-miR-4769-5p	CLIP-seq
MIRT787106	hsa-miR-484	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	12505986, 23851574, 33961781
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	TAS	9762922
GO:0005798	Component	Golgi-associated vesicle	IDA	9762922
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006896	Process	Golgi to vacuole transport	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IDA	9733768
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	9733768
GO:0030117	Component	Membrane coat	IEA
GO:0030121	Component	AP-1 adaptor complex	IBA
GO:0030121	Component	AP-1 adaptor complex	IEA
GO:0030121	Component	AP-1 adaptor complex	TAS	9733768
GO:0030133	Component	Transport vesicle	IDA	9733768
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035615	Function	Clathrin adaptor activity	IBA
GO:0045202	Component	Synapse	IEA
GO:0097708	Component	Intracellular vesicle	IEA

MIM	HGNC	e!Ensembl
603534	556	ENSG00000213983

O75843

Protein name

AP-1 complex subunit gamma-like 2 (Gamma2-adaptin) (G2ad)

Protein function

May function in protein sorting in late endosomes or multivesucular bodies (MVBs). ; (Microbial infection) Involved in MVB-assisted maturation of hepatitis B virus (HBV). {ECO:0000269|PubMed:16867982, ECO:0

PDB

2E9G , 2YMT , 3ZHF , 4BCX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01602	Adaptin_N	24 → 575	Adaptin N terminal region	Family
PF02883	Alpha_adaptinC2	668 → 780	Adaptin C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all but one (skeletal muscle) tissues examined.

Sequence

MVVPSLKLQDLIEEIRGAKTQAQEREVIQKECAHIRASFRDGDPVHRHRQLAKLLYVHML
GYPAHFGQMECLKLIASSRFTDKRVGYLGAMLLLDERHDAHLLITNSIKNDLSQGIQPVQ
GLALCTLSTMGSAEMCRDLAPEVEKLLLQPSPYVRKKAILTAVHMIRKVPELSSVFLPPC
AQLLHERHHGILLGTITLITELCERSPAALRHFRKVVPQLVHILRTLVTMGYSTEHSISG
VSDPFLQVQILRLLRILGRNHEESSETMNDLLAQVATNTDTSRNAGNAVLFETVLTIMDI
RSAAGLRVLAVNILGRFLLNSDRNIRYVALTSLLRLVQSDHSAVQRHRPTVVECLRETDA
SLSRRALELSLALVNSSNVRAMMQELQAFLESCPPDLRADCASGILLAAERFAPTKRWHI
DTILHVLTTAGTHVRDDAVANLTQLIGGAQELHAYSVRRLYNALAEDISQQPLVQVAAWC
IGEYGDLLLAGNCEEIEPLQVDEEEVLALLEKVLQSHMSLPATRGYALTALMKLSTRLCG
DNNRIRQVVSIYGSCLDVELQQRAVEYDTLFRKYDHMRAAILEKMPLVERDGPQADEEAK
ESKEAAQLSEAAPVPTEPQASQLLDLLDLLDGASGDVQHPPHLDPSPGGALVHLLDLPCV
PPPPAPIPDLKVFEREGVQLNLSFIRPPENPALLLITITATNFSEGDVTHFICQAAVPKS
LQLQLQAPSGNTVPARGGLPITQLFRILNPNKAPLRLKLRLTYDHFHQSVQEIFEVNNLP
VESWQ

Sequence length

785

Interactions

View interactions

	KEGG		Reactome
	Lysosome Human immunodeficiency virus 1 infection		Lysosome Vesicle Biogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Esophageal atresia/tracheoesophageal fistula	Likely pathogenic	rs200202756	RCV001172286	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Azoospermia Nonobstructive	Associate	38403804	★★★★★ ★☆☆☆☆ Found in Text Mining only
Death Sudden Cardiac	Associate	21658281	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	29074453	★★★★★ ★☆☆☆☆ Found in Text Mining only

AP1G2 (adaptor related protein complex 1 subunit gamma 2)