Gene Gene information from NCBI Gene database.
Entrez ID 440279
Gene name Unc-13 homolog C
Gene symbol UNC13C
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q21.3
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005516 Function Calmodulin binding IBA
GO:0005543 Function Phospholipid binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614568 23149 ENSG00000137766
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
DLLNADCLQR
AAEKSSKHGAEDKTQTIITAMKERMKIREKNRPEVFEVIQEMFQISKEDF
VQFTKAAKQSVLDGTSKWSAKITITVVSAQGLQAKDKTGSSDPYVTVQVGKNKRRTKTIF
GNLNPVWDEKFYFECHNSTDRIKVRVWDEDDDIKSRVKQHFKKESDDFLGQTIVEVRTLS
GEMDVWYNL
EKRTDKSAVSGAIRLKINVEIKGEEKVAPYHIQYTCLHENLFHYLTEVKSN
GGVKIPEVKGDEAWKVFFDDASQEIVDEFAMRYGIESIYQAMTHFSCLSSKYMCPGVPAV
MSTLLANINAFYAHTTVSTNIQVSASDRFAATNFGREKFIKLLDQLHNSLRIDLSKYREN
FPASNTERLQDLKSTVDLLTSITFFRMKVLELQSPPKASMVVKDCVRACLDSTYKYIFDN
CHELYSQLTDPSKKQDIPREDQGPTTKNLDFWPQLITLMVTIIDEDKTAYTPVLNQFPQE
LNMGKISAEIMWTLFALDMKYALEEH
ENQRLCKSTDYMNLHFKVKWFYNEYVRELPAFKD
AVPEYSLWFEPFVMQWLDENEDVSMEFLHGALGRDKKDGFQQTSEHALFSCSVVDVFAQL
NQSFEIIKKLECPNPEALSHLMRRFAKTINKVLLQYAAIVSSDFSSHCDKENVPCILMNN
IQQLRVQLEKMFESMGGKELDSEASTILKELQVKLSGVLDELSVTYGESFQVIIEECIKQ
MSFELNQMRANGNTTSNKNSAAMDAEIVLRSLMDFLDKTLSLSAKICEKTVLKRVLKELW
KLVLNKIEKQIVLPPLTDQTGPQMIFIAAKDLGQLSKLKEHMIREDARGLTPRQCAIMEV
VLATIKQYFHAGGNGLKKNFLEKSPDLQSLRYALSLYTQTTDALIKK
FIDTQTSQSRSSK
DAVGQISVHVDITATPGTGDHKVTVKVIAINDLNWQTTAMFRPFVEVCILGPNLGDKKRK
QGTKTKSNTWSPKYNETFQFILGKENRPGAYELHLSVKDYCFAREDRIIGMTVIQLQNIA
EKGSYGAWYPL
LKNISMDETGLTILRILSQRTSDDVAKEFVRLKSETRSTEESA
Sequence length 2214
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Synaptic vesicle cycle  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal finger morphology Uncertain significance rs777064285 RCV001262307
Abnormality of the face Uncertain significance rs777064285 RCV001262307
Alzheimer disease Uncertain significance rs746069739 RCV000590970
Clubfoot Uncertain significance rs777064285 RCV001262307
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
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