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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	8888
Gene name	Minichromosome maintenance complex component 3 associated protein
Gene symbol	MCM3AP
Synonyms (NCBI Gene)	GANPMAP80PNRIIDSAC3
Chromosome	21
Chromosome location	21q22.3
Summary	The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity,

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs373674344	C>T	Pathogenic	Missense variant, coding sequence variant
rs483352869	C>T	Pathogenic	Missense variant, coding sequence variant
rs779248881	C>T	Pathogenic	Missense variant, coding sequence variant
rs1218260846	CGCAGCAGGG>-,CGCAGCAGGGCGCAGCAGGG	Pathogenic	Coding sequence variant, frameshift variant
rs1569072024	A>G	Pathogenic	Missense variant, coding sequence variant
rs1569073058	G>T	Pathogenic	Stop gained, coding sequence variant
rs1569074977	A>G	Pathogenic	Missense variant, coding sequence variant
rs1569074992	G>T	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052573	hsa-let-7a-5p	CLASH	23622248
MIRT050147	hsa-miR-26a-5p	CLASH	23622248
MIRT046814	hsa-miR-222-3p	CLASH	23622248
MIRT042228	hsa-miR-484	CLASH	23622248
MIRT039880	hsa-miR-615-3p	CLASH	23622248
MIRT039880	hsa-miR-615-3p	CLASH	23622248
MIRT052817	hsa-miR-3200-3p	CLASH	23622248
MIRT440266	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440266	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1137666	hsa-miR-148a	CLIP-seq
MIRT1137667	hsa-miR-148b	CLIP-seq
MIRT1137668	hsa-miR-152	CLIP-seq
MIRT1137669	hsa-miR-23a	CLIP-seq
MIRT1137670	hsa-miR-23b	CLIP-seq
MIRT1137671	hsa-miR-23c	CLIP-seq
MIRT1137672	hsa-miR-299-5p	CLIP-seq
MIRT1137673	hsa-miR-3200-5p	CLIP-seq
MIRT1137674	hsa-miR-34b	CLIP-seq
MIRT1137675	hsa-miR-4251	CLIP-seq
MIRT1137676	hsa-miR-4329	CLIP-seq
MIRT1137677	hsa-miR-4686	CLIP-seq
MIRT1137678	hsa-miR-4709-5p	CLIP-seq
MIRT1137679	hsa-miR-4711-5p	CLIP-seq
MIRT1137680	hsa-miR-580	CLIP-seq
MIRT1137666	hsa-miR-148a	CLIP-seq
MIRT1137667	hsa-miR-148b	CLIP-seq
MIRT1137668	hsa-miR-152	CLIP-seq
MIRT1137669	hsa-miR-23a	CLIP-seq
MIRT1137670	hsa-miR-23b	CLIP-seq
MIRT1137671	hsa-miR-23c	CLIP-seq
MIRT2039105	hsa-miR-3143	CLIP-seq
MIRT1137673	hsa-miR-3200-5p	CLIP-seq
MIRT1137674	hsa-miR-34b	CLIP-seq
MIRT1137675	hsa-miR-4251	CLIP-seq
MIRT1137676	hsa-miR-4329	CLIP-seq
MIRT1137678	hsa-miR-4709-5p	CLIP-seq
MIRT1137679	hsa-miR-4711-5p	CLIP-seq
MIRT2039106	hsa-miR-543	CLIP-seq
MIRT1137680	hsa-miR-580	CLIP-seq
MIRT1137666	hsa-miR-148a	CLIP-seq
MIRT1137667	hsa-miR-148b	CLIP-seq
MIRT1137668	hsa-miR-152	CLIP-seq
MIRT2039105	hsa-miR-3143	CLIP-seq
MIRT1137673	hsa-miR-3200-5p	CLIP-seq
MIRT1137675	hsa-miR-4251	CLIP-seq
MIRT1137676	hsa-miR-4329	CLIP-seq
MIRT1137678	hsa-miR-4709-5p	CLIP-seq
MIRT1137679	hsa-miR-4711-5p	CLIP-seq
MIRT2039106	hsa-miR-543	CLIP-seq
MIRT1137680	hsa-miR-580	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003682	Function	Chromatin binding	IDA	23652018
GO:0004402	Function	Histone acetyltransferase activity	IDA	23652018
GO:0004402	Function	Histone acetyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	23591820, 23652018
GO:0005634	Component	Nucleus	HDA	16780588
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9712829
GO:0005635	Component	Nuclear envelope	IEA
GO:0005643	Component	Nuclear pore	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	HDA	16780588
GO:0005829	Component	Cytosol	IDA
GO:0006406	Process	MRNA export from nucleus	IBA
GO:0010484	Function	Histone H3 acetyltransferase activity	IDA	23652018
GO:0015031	Process	Protein transport	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IDA	23652018
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016973	Process	Poly(A)+ mRNA export from nucleus	IMP	23591820
GO:0031965	Component	Nuclear membrane	IDA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034728	Process	Nucleosome organization	IDA	23652018
GO:0042393	Function	Histone binding	IDA	23652018
GO:0044615	Component	Nuclear pore nuclear basket	IDA	23591820
GO:0051028	Process	MRNA transport	IEA
GO:0070390	Component	Transcription export complex 2	IBA
GO:0070390	Component	Transcription export complex 2	IDA	23591820

MIM	HGNC	e!Ensembl
603294	6946	ENSG00000160294

O60318

Protein name

Germinal-center associated nuclear protein (GANP) (EC 2.3.1.48) (80 kDa MCM3-associated protein) (MCM3 acetylating protein) (MCM3AP) (EC 2.3.1.-) (MCM3 acetyltransferase)

Protein function

[Isoform GANP]: As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:20005110, PubMed:20384790, PubMed:22307388, PubMed:23591820). Through the acetylation of histones, affects t

PDB

4DHX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16768	NupH_GANP	2 → 291	Nucleoporin homology of Germinal-centre associated nuclear protein	Family
PF03399	SAC3_GANP	635 → 929	SAC3/GANP family	Family
PF16766	CID_GANP	1164 → 1234	Binding region of GANP to ENY2	Family
PF16769	MCM3AP_GANP	1262 → 1976	MCM3AP domain of GANP	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:11024281). Up-regulated in germinal center B-cells in tonsils (at protein level) (PubMed:11024281). {ECO:0000269|PubMed:11024281}.

Sequence

MNPTNPFSGQQPSAFSASSSNVGTLPSKPPFRFGQPSLFGQNSTLSGKSSGFSQVSSFPA
SSGVSHSSSVQTLGFTQTSSVGPFSGLEHTSTFVATSGPSSSSVLGNTGFSFKSPTSVGA
FPSTSAFGQEAGEIVNSGFGKTEFSFKPLENAVFKPILGAESEPEKTQSQIASGFFTFSH
PISSAPGGLAPFSFPQVTSSSATTSNFTFSKPVSSNNSLSAFTPALSNQNVEEEKRGPKS
IFGSSNNSFSSFPVSSAVLGEPFQASKAGVRQGCEEAVSQVEPLPSLMKGLKRKEDQDRS
PRRHGHEPAEDSDPLSRGDHPPDKRPVRLNRPRGGTLFGRTIQDVFKSNKEVGRLGNKEA
KKETGFVESAESDHMAIPGGNQSVLAPSRIPGVNKEEETESREKKEDSLRGTPARQSNRS
ESTDSLGGLSPSEVTAIQCKNIPDYLNDRTILENHFGKIAKVQRIFTRRSKKLAVVHFFD
HASAALARKKGKSLHKDMAIFWHRKKISPNKKPFSLKEKKPGDGEVSPSTEDAPFQHSPL
GKAAGRTGASSLLNKSSPVKKPSLLKAHQFEGDSFDSASEGSEGLGPCVLSLSTLIGTVA
ETSKEKYRLLDQRDRIMRQARVKRTDLDKARTFVGTCLDMCPEKERYMRETRSQLSVFEV
VPGTDQVDHAAAVKEYSRSSADQEEPLPHELRPLPVLSRTMDYLVTQIMDQKEGSLRDWY
DFVWNRTRGIRKDITQQHLCDPLTVSLIEKCTRFHIHCAHFMCEEPMSSFDAKINNENMT
KCLQSLKEMYQDLRNKGVFCASEAEFQGYNVLLSLNKGDILREVQQFHPAVRNSSEVKFA
VQAFAALNSNNFVRFFKLVQSASYLNACLLHCYFSQIRKDALRALNFAYTVSTQRSTIFP
LDGVVRMLLFRDCEEATDFLTCHGLTVSDGCVELNRSAFLEPEGLSKTRKSVFITRKLTV
SVGEIVNGGPLPPVPRHTPVCSFNSQNKYIGESLAAELPVSTQRPGSDTVGGGRGEECGV
EPDAPLSSLPQSLPAPAPSPVPLPPVLALTPSVAPSLFQLSVQPEPPPPEPVPMYSDEDL
AQVVDELIQEALQRDCEEVGSAGAAYAAAALGVSNAAMEDLLTAATTGILRHIAAEEVSK
ERERREQERQRAEEERLKQERELVLSELSQGLAVELMERVMMEFVRETCSQELKNAVETD
QRVRVARCCEDVCAHLVDLFLVEEIFQTAKETLQELQCFCKYLQRWREAVTARKKLRRQM
RAFPAAPCCVDVSDRLRALAPSAECPIAEENLARGLLDLGHAGRLGISCTRLRRLRNKTA
HQMKVQHFYQQLLSDVAWASLDLPSLVAEHLPGRQEHVFWKLVLVLPDVEEQSPESCGRI
LANWLKVKFMGDEGSVDDTSSDAGGIQTLSLFNSLSSKGDQMISVNVCIKVAHGALSDGA
IDAVETQKDLLGASGLMLLLPPKMKSEDMAEEDVYWLSALLQLKQLLQAKPFQPALPLVV
LVPSPGGDAVEKEVEDGLMLQDLVSAKLISDYTVTEIPDTINDLQGSTKVLQAVQWLVSH
CPHSLDLCCQTLIQYVEDGIGHEFSGRFFHDRRERRLGGLASQEPGAIIELFNSVLQFLA
SVVSSEQLCDLSWPVTEFAEAGGSRLLPHLHWNAPEHLAWLKQAVLGFQLPQMDLPPLGA
PWLPVCSMVVQYASQIPSSRQTQPVLQSQVENLLHRTYCRWKSKSPSPVHGAGPSVMEIP
WDDLIALCINHKLRDWTPPRLPVTSEALSEDGQICVYFFKNDLKKYDVPLSWEQARLQTQ
KELQLREGRLAIKPFHPSANNFPIPLLHMHRNWKRSTECAQEGRIPSTEDLMRGASAEEL
LAQCLSSSLLLEKEENKRFEDQLQQWLSEDSGAFTDLTSLPLYLPQTLVSLSHTIEPVMK
TSVTTSPQSDMMREQLQLSEATGTCLGERLKHLERLIRSSREEEVASELHLSALLDMVDI

Sequence length

1980

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
MCM3AP-related disorder	Pathogenic; Likely pathogenic	rs756431692, rs2517345434	RCV003893010 RCV003419131
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	Pathogenic; Likely pathogenic	rs756431692, rs2123851661, rs2517439367, rs755050703, rs2517438518, rs2517442774, rs1569086477, rs1569073058, rs1569074992, rs373674344, rs1569072024, rs1569074977, rs483352869	RCV002251773 RCV002248364 RCV002470422 RCV003148234 RCV003332067 RCV003459154 RCV000681516 RCV000681517 RCV000681518 RCV000681519 RCV000681520 RCV000681521 RCV000077789

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	association	rs2081390223	RCV001291391
Cholangiocarcinoma	Benign	rs150712767	RCV005868204
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Likely benign	rs371194956, rs17176709	RCV005922558 RCV005907450
Congenital fibrosis of extraocular muscles	Uncertain significance	rs1428816312	RCV003984296
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign	rs371194956, rs754476888	RCV005922557 RCV005928172
Gastric cancer	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs371194956, rs148752994, rs752039003, rs752792381, rs17176709	RCV005922559 RCV005924256 RCV005932129 RCV005932344 RCV005907453
Hepatocellular carcinoma	Benign; Likely benign	rs4819221, rs184019419, rs17176709	RCV005917987 RCV005930410 RCV005907451
Lung cancer	Likely benign	rs17176709	RCV005907454
Malignant lymphoma, large B-cell, diffuse	Benign	rs60691594, rs2839188	RCV005914702 RCV005923787
Malignant tumor of esophagus	Uncertain significance	rs752039003	RCV005932128
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs142784252	RCV005916086
Melanoma	Likely benign	rs755382649	RCV005928497
Ovarian serous cystadenocarcinoma	Uncertain significance	rs771048180	RCV005924179
Peripheral neuropathy	Uncertain significance; Likely benign	rs147515617, rs148481230	RCV002271312 RCV002052416
Sarcoma	Uncertain significance; Benign; Likely benign	rs2080691278, rs17182941	RCV005922881 RCV005920973
Thyroid cancer, nonmedullary, 1	Likely benign	rs140050907	RCV005926090
Uterine carcinosarcoma	Benign	rs60691594, rs4819221	RCV005914703 RCV005917988
Uveal melanoma	Benign; Likely benign	rs60691594, rs17176709	RCV005914701 RCV005907452

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 Methylglutaconic Aciduria Type I	Inhibit	19686285
Atherosclerosis	Associate	37266599
Atrial Fibrillation	Associate	31894294
Carcinoma Endometrioid	Stimulate	34256796
Carcinoma Hepatocellular	Associate	31761783, 31836002, 31985002
Carcinoma Non Small Cell Lung	Stimulate	34346845
Carcinoma Squamous Cell	Inhibit	31985002
Charcot Marie Tooth Disease	Associate	28633435
Chromosomal Instability	Associate	19686285
Chromosome 21 ring	Associate	35361402
Colorectal Neoplasms	Associate	34344319, 36172487
Down Syndrome	Associate	16780588
Genetic Diseases Inborn	Associate	31759545
Glioblastoma	Inhibit	19686285
Glioblastoma	Associate	31985002
Glioma	Associate	19686285
Heredodegenerative Disorders Nervous System	Associate	32202298
Inflammation	Associate	33942704, 37303492
Intellectual Disability	Associate	28633435, 32202298
Ischemic Stroke	Associate	32945445
Lymphatic Metastasis	Stimulate	32945454
Muscle Hypotonia	Associate	32202298
Neoplasm Metastasis	Associate	33596783, 37303492
Neoplasms	Associate	19686285, 32945454, 33596783, 34256796, 34271873, 35929906, 37266599
Nerve Degeneration	Associate	28633435
Osteoarthritis	Stimulate	31836002
Osteoarthritis	Associate	33942704
Ovarian Neoplasms	Associate	32945454, 34168151
Peripheral Nervous System Diseases	Associate	32202298
Polycystic Ovary Syndrome	Associate	37132453
Prostatic Neoplasms	Associate	33596783
Pulmonary Disease Chronic Obstructive	Inhibit	32940099
Small Cell Lung Carcinoma	Associate	34271873
Stomach Neoplasms	Associate	32196596
Syndrome	Associate	32202298
Thyroid Cancer Papillary	Associate	35929906

MCM3AP (minichromosome maintenance complex component 3 associated protein)