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	116988
Gene name	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
Gene symbol	AGAP3
Synonyms (NCBI Gene)	AGAP-3CENTG3CRAGMRIP-1cnt-g3
Chromosome	7
Chromosome location	7q36.1
Summary	This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AM

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miRTarBase ID	miRNA	Experiments	Reference
MIRT045465	hsa-miR-149-5p	CLASH	23622248
MIRT039564	hsa-miR-652-3p	CLASH	23622248
MIRT771622	hsa-miR-1203	CLIP-seq
MIRT771623	hsa-miR-1276	CLIP-seq
MIRT771624	hsa-miR-15a	CLIP-seq
MIRT771625	hsa-miR-15b	CLIP-seq
MIRT771626	hsa-miR-16	CLIP-seq
MIRT771627	hsa-miR-195	CLIP-seq
MIRT771628	hsa-miR-2278	CLIP-seq
MIRT771629	hsa-miR-329	CLIP-seq
MIRT771630	hsa-miR-362-3p	CLIP-seq
MIRT771631	hsa-miR-3941	CLIP-seq
MIRT771632	hsa-miR-424	CLIP-seq
MIRT771633	hsa-miR-4420	CLIP-seq
MIRT771634	hsa-miR-4537	CLIP-seq
MIRT771635	hsa-miR-466	CLIP-seq
MIRT771636	hsa-miR-4672	CLIP-seq
MIRT771637	hsa-miR-4707-3p	CLIP-seq
MIRT771638	hsa-miR-4722-5p	CLIP-seq
MIRT771639	hsa-miR-497	CLIP-seq
MIRT771640	hsa-miR-520d-5p	CLIP-seq
MIRT771641	hsa-miR-524-5p	CLIP-seq
MIRT771642	hsa-miR-600	CLIP-seq
MIRT771643	hsa-miR-603	CLIP-seq
MIRT771644	hsa-miR-629	CLIP-seq
MIRT771645	hsa-miR-873	CLIP-seq
MIRT771629	hsa-miR-329	CLIP-seq
MIRT771630	hsa-miR-362-3p	CLIP-seq
MIRT771646	hsa-miR-3671	CLIP-seq
MIRT771631	hsa-miR-3941	CLIP-seq
MIRT771647	hsa-miR-4731-3p	CLIP-seq
MIRT771648	hsa-miR-4801	CLIP-seq
MIRT771649	hsa-miR-4803	CLIP-seq
MIRT771650	hsa-miR-485-3p	CLIP-seq
MIRT771640	hsa-miR-520d-5p	CLIP-seq
MIRT771641	hsa-miR-524-5p	CLIP-seq
MIRT771651	hsa-miR-561	CLIP-seq
MIRT771643	hsa-miR-603	CLIP-seq
MIRT771637	hsa-miR-4707-3p	CLIP-seq
MIRT771640	hsa-miR-520d-5p	CLIP-seq
MIRT771641	hsa-miR-524-5p	CLIP-seq
MIRT2168510	hsa-miR-1207-5p	CLIP-seq
MIRT2168511	hsa-miR-1827	CLIP-seq
MIRT2168512	hsa-miR-24	CLIP-seq
MIRT2168513	hsa-miR-299-5p	CLIP-seq
MIRT2168514	hsa-miR-3183	CLIP-seq
MIRT2168515	hsa-miR-3612	CLIP-seq
MIRT2168516	hsa-miR-4266	CLIP-seq
MIRT2168517	hsa-miR-4284	CLIP-seq
MIRT2168518	hsa-miR-4419a	CLIP-seq
MIRT2168519	hsa-miR-4510	CLIP-seq
MIRT2168520	hsa-miR-4671-5p	CLIP-seq
MIRT2168521	hsa-miR-4695-5p	CLIP-seq
MIRT2168522	hsa-miR-4723-3p	CLIP-seq
MIRT2168523	hsa-miR-4763-3p	CLIP-seq
MIRT2168524	hsa-miR-4779	CLIP-seq
MIRT2168525	hsa-miR-487a	CLIP-seq
MIRT2168526	hsa-miR-516b	CLIP-seq
MIRT771640	hsa-miR-520d-5p	CLIP-seq
MIRT771641	hsa-miR-524-5p	CLIP-seq
MIRT771651	hsa-miR-561	CLIP-seq
MIRT2168527	hsa-miR-622	CLIP-seq
MIRT2168528	hsa-miR-650	CLIP-seq
MIRT2168529	hsa-miR-765	CLIP-seq
MIRT2168530	hsa-miR-940	CLIP-seq
MIRT2168510	hsa-miR-1207-5p	CLIP-seq
MIRT2471086	hsa-miR-1236	CLIP-seq
MIRT2471087	hsa-miR-1296	CLIP-seq
MIRT2471088	hsa-miR-1305	CLIP-seq
MIRT2168511	hsa-miR-1827	CLIP-seq
MIRT2471089	hsa-miR-183	CLIP-seq
MIRT2471090	hsa-miR-204	CLIP-seq
MIRT2471091	hsa-miR-211	CLIP-seq
MIRT2471092	hsa-miR-2467-3p	CLIP-seq
MIRT2471093	hsa-miR-2909	CLIP-seq
MIRT2471094	hsa-miR-3065-3p	CLIP-seq
MIRT2168514	hsa-miR-3183	CLIP-seq
MIRT2471095	hsa-miR-338-3p	CLIP-seq
MIRT2168515	hsa-miR-3612	CLIP-seq
MIRT2471096	hsa-miR-370	CLIP-seq
MIRT2471097	hsa-miR-3909	CLIP-seq
MIRT2168516	hsa-miR-4266	CLIP-seq
MIRT2471098	hsa-miR-4269	CLIP-seq
MIRT2471099	hsa-miR-4279	CLIP-seq
MIRT2471100	hsa-miR-4310	CLIP-seq
MIRT2168518	hsa-miR-4419a	CLIP-seq
MIRT2471101	hsa-miR-4421	CLIP-seq
MIRT2471102	hsa-miR-4436b-3p	CLIP-seq
MIRT2168519	hsa-miR-4510	CLIP-seq
MIRT2471103	hsa-miR-4530	CLIP-seq
MIRT2471104	hsa-miR-4655-3p	CLIP-seq
MIRT2168520	hsa-miR-4671-5p	CLIP-seq
MIRT2168521	hsa-miR-4695-5p	CLIP-seq
MIRT2471105	hsa-miR-4721	CLIP-seq
MIRT2168522	hsa-miR-4723-3p	CLIP-seq
MIRT2471106	hsa-miR-4753-3p	CLIP-seq
MIRT2471107	hsa-miR-4761-3p	CLIP-seq
MIRT2168523	hsa-miR-4763-3p	CLIP-seq
MIRT2168524	hsa-miR-4779	CLIP-seq
MIRT2471108	hsa-miR-513a-5p	CLIP-seq
MIRT2168526	hsa-miR-516b	CLIP-seq
MIRT2471109	hsa-miR-605	CLIP-seq
MIRT2168528	hsa-miR-650	CLIP-seq
MIRT2168529	hsa-miR-765	CLIP-seq
MIRT2168530	hsa-miR-940	CLIP-seq
MIRT2168510	hsa-miR-1207-5p	CLIP-seq
MIRT2168511	hsa-miR-1827	CLIP-seq
MIRT2471090	hsa-miR-204	CLIP-seq
MIRT2471091	hsa-miR-211	CLIP-seq
MIRT2168515	hsa-miR-3612	CLIP-seq
MIRT2471096	hsa-miR-370	CLIP-seq
MIRT2168516	hsa-miR-4266	CLIP-seq
MIRT2471098	hsa-miR-4269	CLIP-seq
MIRT2471099	hsa-miR-4279	CLIP-seq
MIRT2168518	hsa-miR-4419a	CLIP-seq
MIRT2471101	hsa-miR-4421	CLIP-seq
MIRT2168519	hsa-miR-4510	CLIP-seq
MIRT2168520	hsa-miR-4671-5p	CLIP-seq
MIRT2168521	hsa-miR-4695-5p	CLIP-seq
MIRT2168523	hsa-miR-4763-3p	CLIP-seq
MIRT2168524	hsa-miR-4779	CLIP-seq
MIRT2471108	hsa-miR-513a-5p	CLIP-seq
MIRT2168526	hsa-miR-516b	CLIP-seq
MIRT2168528	hsa-miR-650	CLIP-seq
MIRT2168529	hsa-miR-765	CLIP-seq
MIRT2168530	hsa-miR-940	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	ISO
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	ISO
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISO
GO:0008270	Function	Zinc ion binding	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	ISO
GO:0034614	Process	Cellular response to reactive oxygen species	ISO
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISO
GO:0046872	Function	Metal ion binding	IEA
GO:0071944	Component	Cell periphery	ISO
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA

MIM	HGNC	e!Ensembl
616813	16923	ENSG00000133612

Q96P47

Protein name

Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 (AGAP-3) (CRAM-associated GTPase) (CRAG) (Centaurin-gamma-3) (Cnt-g3) (MR1-interacting protein) (MRIP-1)

Protein function

GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway. {ECO:0000269|PubMed:16461359, ECO:0000305}

PDB

3IHW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	93 → 251	Ras family	Domain
PF01412	ArfGap	626 → 742	Putative GTPase activating protein for Arf	Domain
PF12796	Ank_2	753 → 846	Ankyrin repeats (3 copies)	Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15381706, ECO:0000269|PubMed:16461359}.

Sequence

MNFQAGGGQSPQQQQQLAGGPPQQFALSNSAAIRAEIQRFESVHPNIYAIYDLIERIEDL
ALQNQIREHVISIEDSFVNSQEWTLSRSVPELKVGIVGNLSSGKSALVHRYLTGTYVQEE
SPEGGRFKKEIVVDGQSYLLLIRDEGGPPELQFAAWVDAVVFVFSLEDEISFQTVYNYFL
RLCSFRNASEVPMVLVGTQDAISAANPRVIDDSRARKLSTDLKRCTYYETCATYGLNVER
VFQDVAQKVVALRKKQQLAIGPCKSLPNSPSHSAVSAASIPAVHINQATNGGGSAFSDYS
SSVPSTPSISQRELRIETIAASSTPTPIRKQSKRRSNIFTSRKGADLDREKKAAECKVDS
IGSGRAIPIKQGILLKRSGKSLNKEWKKKYVTLCDNGLLTYHPSLHDYMQNIHGKEIDLL
RTTVKVPGKRLPRATPATAPGTSPRANGLSVERSNTQLGGGTGAPHSASSASLHSERPLS
SSAWAGPRPEGLHQRSCSVSSADQWSEATTSLPPGMQHPASGPAEVLSSSPKLDPPPSPH
SNRKKHRRKKSTGTPRPDGPSSATEEAEESFEFVVVSLTGQTWHFEASTAEERELWVQSV
QAQILASLQGCRSAKDKTRLGNQNAALAVQAVRTVRGNSFCIDCDAPNPDWASLNLGALM
CIECSGIHRHLGAHLSRVRSLDLDDWPPELLAVMTAMGNALANSVWEGALGGYSKPGPDA
CREEKERWIRAKYEQKLFLAPLPSSDVPLGQQLLRAVVEDDLRLLVMLLAHGSKEEVNET
YGDGDGRTALHLSSAMANVVFTQLLIWYGVDVRSRDARGLTPLAYARRAGSQECADILIQ
HGCPGEGCGLAPTPNREPANGTNPSAELHRSPSLL

Sequence length

875

Interactions

View interactions

	KEGG
	Endocytosis

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 Unknown Diseases (5)

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.
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	26417591	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Associate	35949061	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Associate	31698611	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Associate	31698611	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	35871080	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	31698611	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Associate	31698611	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	35949061	★★★★★ ★☆☆☆☆ Found in Text Mining only

AGAP3 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 3)