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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	440279
Gene name Gene Name - the full gene name approved by the HGNC.	Unc-13 homolog C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	UNC13C
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q21.3

Show/Hide all(24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021903	hsa-miR-128-3p	Microarray	17612493
MIRT1475341	hsa-miR-2053	CLIP-seq
MIRT1475342	hsa-miR-3074-3p	CLIP-seq
MIRT1475343	hsa-miR-495	CLIP-seq
MIRT1475344	hsa-miR-507	CLIP-seq
MIRT1475345	hsa-miR-557	CLIP-seq
MIRT2143223	hsa-miR-1271	CLIP-seq
MIRT2143224	hsa-miR-182	CLIP-seq
MIRT2143225	hsa-miR-3145-3p	CLIP-seq
MIRT2143226	hsa-miR-3163	CLIP-seq
MIRT2143227	hsa-miR-412	CLIP-seq
MIRT2143228	hsa-miR-4310	CLIP-seq
MIRT2143229	hsa-miR-4659a-3p	CLIP-seq
MIRT2143230	hsa-miR-4659b-3p	CLIP-seq
MIRT2143231	hsa-miR-4775	CLIP-seq
MIRT2143232	hsa-miR-499-3p	CLIP-seq
MIRT2143233	hsa-miR-499a-3p	CLIP-seq
MIRT2143234	hsa-miR-590-3p	CLIP-seq
MIRT2143235	hsa-miR-96	CLIP-seq
MIRT2363525	hsa-miR-141	CLIP-seq
MIRT2363526	hsa-miR-200a	CLIP-seq
MIRT2143225	hsa-miR-3145-3p	CLIP-seq
MIRT2363527	hsa-miR-490-5p	CLIP-seq
MIRT2363528	hsa-miR-548c-3p	CLIP-seq

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005516	Function	Calmodulin binding	IBA	21873635
GO:0005543	Function	Phospholipid binding	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	ISS
GO:0007268	Process	Chemical synaptic transmission	ISS
GO:0007528	Process	Neuromuscular junction development	IBA	21873635
GO:0016081	Process	Synaptic vesicle docking	IBA	21873635
GO:0016082	Process	Synaptic vesicle priming	IBA	21873635
GO:0016188	Process	Synaptic vesicle maturation	IBA	21873635
GO:0017075	Function	Syntaxin-1 binding	IBA	21873635
GO:0019992	Function	Diacylglycerol binding	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA	21873635
GO:0031594	Component	Neuromuscular junction	IBA	21873635
GO:0031914	Process	Negative regulation of synaptic plasticity	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA	21873635
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042734	Component	Presynaptic membrane	IBA	21873635
GO:0043195	Component	Terminal bouton	IBA	21873635
GO:0044305	Component	Calyx of Held	IEA
GO:0048786	Component	Presynaptic active zone	TAS	15217342
GO:0061789	Process	Dense core granule priming	IBA	21873635
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IBA	21873635
GO:0099525	Process	Presynaptic dense core vesicle exocytosis	IBA	21873635

MIM	HGNC	e!Ensembl
614568	23149	ENSG00000137766

Protein

UniProt ID

Q8NB66

Protein name

Protein unc-13 homolog C (Munc13-3)

Protein function

May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell synapses (By similarity). {ECO:00002

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00130	C1_1	1098 → 1150	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
PF00168	C2	1220 → 1329	C2 domain	Domain
PF06292	DUF1041	1540 → 1646	Domain of Unknown Function (DUF1041)	Domain
PF10540	Membr_traf_MHD	1887 → 2027	Munc13 (mammalian uncoordinated) homology domain	Domain
PF00168	C2	2061 → 2171	C2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Exclusively expressed in brain.

Sequence

MVANFFKSLILPYIHKLCKGMFTKKLGNTNKNKEYRQQKKDQDFPTAGQTKSPKFSYTFK
STVKKIAKCSSTHNLSTEEDEASKEFSLSPTFSYRVAIANGLQKNAKVTNSDNEDLLQEL
SSIESSYSESLNELRSSTENQAQSTHTMPVRRNRKSSSSLAPSEGSSDGERTLHGLKLGA
LRKLRKWKKSQECVSSDSELSTMKKSWGIRSKSLDRTVRNPKTNALEPGFSSSGCISQTH
DVMEMIFKELQGISQIETELSELRGHVNALKHSIDEISSSVEVVQSEIEQLRTGFVQSRR
ETRDIHDYIKHLGHMGSKASLRFLNVTEERFEYVESVVYQILIDKMGFSDAPNAIKIEFA
QRIGHQRDCPNAKPRPILVYFETPQQRDSVLKKSYKLKGTGIGISTDILTHDIRERKEKG
IPSSQTYESMAIKLSTPEPKIKKNNWQSPDDSDEDLESDLNRNSYAVLSKSELLTKGSTS
KPSSKSHSARSKNKTANSSRISNKSDYDKISSQLPESDILEKQTTTHYADATPLWHSQSD
FFTAKLSRSESDFSKLCQSYSEDFSENQFFTRTNGSSLLSSSDRELWQRKQEGTATLYDS
PKDQHLNGGVQGIQGQTETENTETVDSGMSNGMVCASGDRSHYSDSQLSLHEDLSPWKEW
NQGADLGLDSSTQEGFDYETNSLFDQQLDVYNKDLEYLGKCHSDLQDDSESYDLTQDDNS
SPCPGLDNEPQGQWVGQYDSYQGANSNELYQNQNQLSMMYRSQSELQSDDSEDAPPKSWH
SRLSIDLSDKTFSFPKFGSTLQRAKSALEVVWNKSTQSLSGYEDSGSSLMGRFRTLSQST
ANESSTTLDSDVYTEPYYYKAEDEEDYTEPVADNETDYVEVMEQVLAKLENRTSITETDE
QMQAYDHLSYETPYETPQDEGYDGPADDMVSEEGLEPLNETSAEMEIREDENQNIPEQPV
EITKPKRIRPSFKEAALRAYKKQMAELEEKILAGDSSSVDEKARIVSGNDLDASKFSALQ
VCGGAGGGLYGIDSMPDLRRKKTLPIVRDVAMTLAARKSGLSLAMVIRTSLNNEELKMHV
FKKTLQALIYPMSSTIPHNFEVWTATTPTYCYECEGLLWGIARQGMKCLECGVKCHEKCQ
DLLNADCLQRAAEKSSKHGAEDKTQTIITAMKERMKIREKNRPEVFEVIQEMFQISKEDF
VQFTKAAKQSVLDGTSKWSAKITITVVSAQGLQAKDKTGSSDPYVTVQVGKNKRRTKTIF
GNLNPVWDEKFYFECHNSTDRIKVRVWDEDDDIKSRVKQHFKKESDDFLGQTIVEVRTLS
GEMDVWYNLEKRTDKSAVSGAIRLKINVEIKGEEKVAPYHIQYTCLHENLFHYLTEVKSN
GGVKIPEVKGDEAWKVFFDDASQEIVDEFAMRYGIESIYQAMTHFSCLSSKYMCPGVPAV
MSTLLANINAFYAHTTVSTNIQVSASDRFAATNFGREKFIKLLDQLHNSLRIDLSKYREN
FPASNTERLQDLKSTVDLLTSITFFRMKVLELQSPPKASMVVKDCVRACLDSTYKYIFDN
CHELYSQLTDPSKKQDIPREDQGPTTKNLDFWPQLITLMVTIIDEDKTAYTPVLNQFPQE
LNMGKISAEIMWTLFALDMKYALEEHENQRLCKSTDYMNLHFKVKWFYNEYVRELPAFKD
AVPEYSLWFEPFVMQWLDENEDVSMEFLHGALGRDKKDGFQQTSEHALFSCSVVDVFAQL
NQSFEIIKKLECPNPEALSHLMRRFAKTINKVLLQYAAIVSSDFSSHCDKENVPCILMNN
IQQLRVQLEKMFESMGGKELDSEASTILKELQVKLSGVLDELSVTYGESFQVIIEECIKQ
MSFELNQMRANGNTTSNKNSAAMDAEIVLRSLMDFLDKTLSLSAKICEKTVLKRVLKELW
KLVLNKIEKQIVLPPLTDQTGPQMIFIAAKDLGQLSKLKEHMIREDARGLTPRQCAIMEV
VLATIKQYFHAGGNGLKKNFLEKSPDLQSLRYALSLYTQTTDALIKKFIDTQTSQSRSSK
DAVGQISVHVDITATPGTGDHKVTVKVIAINDLNWQTTAMFRPFVEVCILGPNLGDKKRK
QGTKTKSNTWSPKYNETFQFILGKENRPGAYELHLSVKDYCFAREDRIIGMTVIQLQNIA
EKGSYGAWYPLLKNISMDETGLTILRILSQRTSDDVAKEFVRLKSETRSTEESA

Sequence length

2214

Interactions

View interactions

	KEGG
	Synaptic vesicle cycle

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)	17052657

Show/Hide Unknown Diseases (6)

Disease term	Disease name	Evidence	Source
Unknown
Asthma	Asthma		GWAS
Stress Disorder	Stress Disorder		GWAS
Diabetes	Diabetes		GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA
Cleft Lip With Or Without Cleft Palate	Cleft Lip With Or Without Cleft Palate		GWAS
Restless Legs Syndrome	Restless Legs Syndrome		GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
Carcinoma Hepatocellular	Associate	35473892, 37575271
Neoplasm Metastasis	Associate	37175927
Neoplasms	Associate	37175927
Otitis Media	Associate	37175927
Proteinuria	Associate	26420894
Renal Insufficiency Chronic	Associate	26420894
Squamous Cell Carcinoma of Head and Neck	Associate	37575271

UNC13C (unc-13 homolog C)