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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

UNC13A Gene

protein-coding GIFtS: 54
GCID: GC19M017712

unc-13 homolog A (C. elegans)

Explore 5 diseases affiliated with
UNC13A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Unc-13 Homolog A (C. Elegans)¹ ²
Munc13-1¹ ² ³
KIAA1032¹ ³ ⁵
Protein Unc-13 Homolog A²

External Ids:	HGNC: 23150¹	Entrez Gene: 23025²	Ensembl: ENSG00000130477⁷	OMIM: 609894⁵	UniProtKB: Q9UPW8³

Export aliases for UNC13A gene to outside databases

Previous GC identifers: GC19M017575 GC19M017276

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UNC13A:

This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play

important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be

associated with sporadic amyotrophic lateral sclerosis. (provided by RefSeq, Feb 2012)

UniProtKB/Swiss-Prot: UN13A_HUMAN, Q9UPW8

Function: Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger

pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and

participates in the activity-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic

vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). Also

involved in secretory granule priming in insulin secretion (By similarity). Interacts with FBXO45 (via SRY domain);

leading to the degradation of UNC13A by the proteasome (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the UNC13A gene promoter:
E2F-3a E2F-4 E2F-5 Sp1 NRSF form 1 E2F-2 NRSF form 2 E2F-1 E2F aMEF-2
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for UNC13A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UNC13A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.11 Ensembl cytogenetic band: 19p13.11 HGNC cytogenetic band: 19p13.12

UNC13A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UNC13A gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M017712: view genomic region (about GC identifiers)

Start:	17,712,137 bp from pter	End:	17,799,401 bp from pter
Size:	87,265 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: UN13A_HUMAN, Q9UPW8 (See protein sequence)

Recommended Name: Protein unc-13 homolog A

Size: 1703 amino acids; 193014 Da

Subunit: Interacts with the N-termini of STX1A and/or STX1B1 and DOC2A. Interacts with BSN. Interacts with RIMS1 which

recruits UNC13A to the active zone. Forms homodimers via its first C2 domain. Also interacts via this domain with the

zinc finger domain of RIMS2. Part of a complex consisting of ERC2, RIMS1 and UNC13A. Also part of a complex consisting

of UNC13A, RIMS2 and RAB3A (By similarity)

Subcellular location: Cytoplasm (By similarity). Cell membrane; Peripheral membrane protein (By similarity). Cell

junction, synapse, presynaptic cell membrane; Peripheral membrane protein (By similarity). Note=Localized to the

active zone of presynaptic density. Translocated to the plasma membrane as response to phorbol ester binding (By

similarity)

Secondary accessions: E5RHY9

Explore the universe of human proteins at neXtProt for UNC13A: NX_Q9UPW8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UPW8

UNC13A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001073890.2

ENSEMBL proteins:

ENSP00000429562 ENSP00000447236 ENSP00000447572 ENSP00000446831 ENSP00000400409

ENSP00000252773

Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for UNC13A

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0030054	cell junction	IEA	--
GO:0031594	neuromuscular junction	IEA	--

UNC13A for ontologies About GeneDecksing

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	Uscn Antibodies for UNC13A
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	Uscn ELISAs and CLIAs for UNC13A

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

UNC13A for domains About GeneDecksing

5/11 InterPro domains/families (see all 11):

IPR027082 Unc13A

IPR014772 Munc13_dom-2

IPR008973 C2_Ca/lipid-bd_dom_CaLB

IPR010439 Ca-dep_secretion_activator

IPR019558 Munc13_subgr_dom-2

Graphical View of Domain Structure for InterPro Entry Q9UPW8

ProtoNet protein and cluster: Q9UPW8

2 Blocks protein families:

IPB000008 C2 domain

IPB010439 Protein of unknown function DUF1041

UniProtKB/Swiss-Prot: UN13A_HUMAN, Q9UPW8

Domain: The C2 domains are not involved in calcium-dependent phospholipid binding (By similarity)

Domain: The C-terminal region containing both MHD domains and the third C2 domain is required for synaptic vesicle

priming activity (By similarity)

Similarity: Belongs to the unc-13 family

Similarity: Contains 3 C2 domains

Similarity: Contains 1 MHD1 (MUNC13 homology domain 1) domain

Similarity: Contains 1 MHD2 (MUNC13 homology domain 2) domain

Similarity: Contains 1 phorbol-ester/DAG-type zinc finger

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: UN13A_HUMAN, Q9UPW8

Function: Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger

pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and

participates in the activity-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic

vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). Also

involved in secretory granule priming in insulin secretion (By similarity). Interacts with FBXO45 (via SRY domain);

leading to the degradation of UNC13A by the proteasome (By similarity)

miRNA Products:		OriGene 3'-UTR Clone: UNC13A Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UNC13A
		8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate UNC13A (see all 54):
		hsa-miR-596 hsa-miR-21* hsa-miR-330-5p hsa-miR-15a hsa-miR-503 hsa-miR-632 hsa-miR-301a hsa-miR-218

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UNC13A (see all 7) OriGene shRNA RFP: UNC13A OriGene siRNA: UNC13A
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for UNC13A

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		GenScript: all cDNA clones in your preferred vector: UNC13A (NM_001080421)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13A

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0019992	diacylglycerol binding	IEA	--
GO:0046872	metal ion binding	IEA	--

UNC13A for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Unc13a^tm1Bros for UNC13A
     7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Unc13a):

behavior/neurological	endocrine/exocrine gland	homeostasis/metabolism	mortality/aging	nervous system
reproductive system	respiratory system

UNC13A for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Synaptic Vesicle Pathway

Synaptic Vesicle Pathway

1.00

1 BioSystems Pathway for UNC13A

Synaptic Vesicle Pathway

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for UNC13A

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/11 Interacting proteins for UNC13A (Q9UPW8³ ENSP00000400409⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM1	P62158³	I2D: score=3
CALM2	P62158³	I2D: score=3
CALM3	P62158³	I2D: score=3
DNPEP	Q9ULA0³, ENSP00000273075⁴	I2D: score=1 STRING: ENSP00000273075
ERC2	O15083³, ENSP00000288221⁴	I2D: score=1 STRING: ENSP00000288221

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001956	positive regulation of neurotransmitter secretion	IEA	--
GO:0007528	neuromuscular junction development	IEA	--
GO:0016081	synaptic vesicle docking involved in exocytosis	IEA	--
GO:0016188	synaptic vesicle maturation	IEA	--
GO:0035249	synaptic transmission, glutamatergic	IEA	--

UNC13A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

UNC13A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for UNC13A

10/844 HMDB Compounds for UNC13A (see all 844) About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
DG(14:0/14:0/0:0)	DAG(14:0/14:0) (see all 9)	--	--
DG(14:0/14:1(9Z)/0:0)	DAG(14:0/14:1) (see all 15)	--	--
DG(14:0/15:0/0:0)	Diacylglycerol(29:0) (see all 9)	--	--
DG(14:0/16:0/0:0)	DAG(30:0) (see all 9)	--	--
DG(14:0/16:1(9Z)/0:0)	DG(30:1) (see all 15)	--	--
DG(14:0/18:0/0:0)	DG(14:0/18:0) (see all 9)	--	--
DG(14:0/18:1(11Z)/0:0)	Diacylglycerol (see all 15)	--	--
DG(14:0/18:1(9Z)/0:0)	1-myristoyl-2-oleoyl-sn-glycerol (see all 15)	--	--
DG(14:0/18:2(9Z,12Z)/0:0)	DAG(14:0/18:2n6) (see all 15)	--	--

1 Novoseek chemical compound relationship for UNC13A gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pkcs	63.2	2	15123597 (1)

Search CenterWatch for drugs/clinical trials and news about UNC13A / UN13A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for UNC13A gene:

NM_001080421.2

Unigene Cluster for UNC13A:

Unc-13 homolog A (C. elegans)

Hs.164502 [show with all ESTs]

Unigene Representative Sequence: NM_001080421

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000519716 ENST00000551649 ENST00000552293 ENST00000550896 ENST00000523229

ENST00000517497 ENST00000428389(uc021uqk.1) ENST00000252773

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UNC13A
		8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate UNC13A (see all 54):
		hsa-miR-596 hsa-miR-21* hsa-miR-330-5p hsa-miR-15a hsa-miR-503 hsa-miR-632 hsa-miR-301a hsa-miR-218

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UNC13A

Additional cDNA sequence:

AB028955.2 AK055065.1 BC011004.2

10 DOTS entries:

DT.40273980 DT.413133 DT.101981028 DT.121431812 DT.92418026 DT.121431973 DT.92008746 DT.92023872

DT.102840355 DT.97807379

24/99 AceView cDNA sequences (see all 99):

CB068880 AW295046 BE073877 CK822767 BF980863 AI916957 BX645110 AA350118

AA897682 BX645221 BM661571 AI681220 BQ268403 AA788899 BC011004 BM510145

CB153229 BQ924529 BE219414 AA339505 AB028955 CB153302 BQ926013 BQ270345

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

UNC13A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGTTGAGAT

About this image

UNC13A expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Sertoli cells

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See UNC13A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UNC13A

SOURCE GeneReport for Unigene cluster: Hs.164502

UniProtKB/Swiss-Prot: UN13A_HUMAN, Q9UPW8

Tissue specificity: Expressed in pancreatic islet cells

SABiosciences Custom PCR Arrays for UNC13A

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UNC13A

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for UNC13A gene from 7/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Unc13a^{1 , 5}	unc-13 homolog A (C. elegans)^{1, 5}	88.41(n)¹ 96.47(a)¹		8 (34.43 cM)⁵ 382018¹ NM_001029873.2¹ NP_001025044.2¹ 71624417⁵
chicken (Gallus gallus)	Aves	LOC430487¹	protein unc-13 homolog A-like	83.94(n) 91.84(a)		430487 XM_428042.3 XP_428042.3
lizard (Anolis carolinensis)	Reptilia	UNC13A⁶ -- (see all 3)	--	97(a) 86(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	AAWZ02037616(1599-11763) GL344988.1(2-11194)
African clawed frog (Xenopus laevis)	Amphibia	Xl.29718²	Xenopus laevis transcribed sequence with moderate similarity more	82.63(n)		CF288458.1
zebrafish (Danio rerio)	Actinopterygii	si:dkey-110c1.7¹	si:dkey-110c1.7	74.81(n) 83.91(a)		568618 NM_001045165.1 NP_001038630.1
fruit fly (Drosophila melanogaster)	Insecta	unc-13¹	CG2999-PA	62.74(n) 69.02(a)		43841 NM_143692.3 NP_651949.2
worm (Caenorhabditis elegans)	Secernentea	unc-13⁶	Phorbol ester/diacylglycerol-binding protein unc-1...	38(a)	possible ortholog	I(7422781-7454084)

ENSEMBL Gene Tree for UNC13A (if available)
TreeFam Gene Tree for UNC13A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for UNC13A gene

UNC13C² BAIAP3² UNC13D² UNC13B²

3 SIMAP similar genes for UNC13A using alignment to 6 protein entries: UN13A_HUMAN (see all proteins):

UNC13B UNC13B variant protein UNC13C

UNC13A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs142779781^1,2		--	17711645(+)	`GATCAC/GCTGAG`	1	--	ds500¹		0	--	--	--	--
rs10405780^1,2	C,A,	--	17711663(+)	`gttcgC/Agacca`	1	--	ds500¹		1		NA	2
rs192519498^1,2		--	17711940(+)	`ATCTGA/GGCAAG`	1	--	ds500¹		0	--	--	--	--
rs114293899^1,2	C,F,	--	17711997(+)	`GACTCC/AAGTTG`	1	--	ds500¹		1		WA	118
rs148294010^1,2		--	17712066(+)	`AGGTGC/TTAATC`	1	--	ds500¹		0	--	--	--	--
rs141494763^1,2		--	17712080(+)	`CGTGAA/GGTTTT`	1	--	ds500¹		0	--	--	--	--
rs184606411^1,2		--	17712094(+)	`TTTTGG/TTTTTT`	1	--	ds500¹		0	--	--	--	--
rs189005553^1,2		--	17712152(+)	`TGTGTA/GGTTTT`	1	--	ut3¹		0	--	--	--	--
rs139474206^1,2	C,	--	17712317(+)	`TGTGC-/AGACACT`	1	--	ut3¹		0	--	--	--	--
rs182081351^1,2		--	17712367(+)	`ACAACC/GTTTTG`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for UNC13A (17712137 - 17799401 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for UNC13A
1 CNV: 5091
1 Indel: 12019

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

UNC13A for disorders           About GeneDecksing

OMIM gene information: 609894    OMIM disorders: --

5 diseases for UNC13A:    About MalaCards

amyotrophic lateral sclerosis lateral sclerosis pharyngitis pancreatitis

neuronitis

1 disease from the University of Copenhagen DISEASES database for UNC13A:

Amyotrophic lateral sclerosis

Human Genome Epidemiology (HuGE) Navigator: UNC13A (4 documents)

Export disorders for UNC13A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for UNC13A gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with UNC13A)

Utopia: connect your pdf to the dynamic
world of online information

Regulation of insulin exocytosis by Munc13-1. (PubMed id 12871971)^{1, 2, 9} Sheu L....Gaisano H.Y. (2003)
Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)^{1, 2} Kikuno R....Ohara O. (1999)
Munc13-1-mediated vesicle priming contributes to secretory amyloid precursor protein processing. (PubMed id 15123597)^{1, 9} Rossner S....Brose N. (2004)
Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release. (PubMed id 14734538)^{1, 9} Takao-Rikitsu E....Takai Y. (2004)
Fbxo45, a novel ubiquitin ligase, regulates synaptic activity. (PubMed id 19996097)^{1, 9} Tada H....Okano H. (2010)
UNC13A is a modifier of survival in amyotrophic latera l sclerosis. (PubMed id 22118904)¹ Diekstra F.P....Veldink J.H. (2012)
RIM, Munc13, and Rab3A interplay in acrosomal exocytos is. (PubMed id 22248876)¹ Bello O.D....Michaut M.A. (2012)
Analysis of the UNC13A gene as a risk factor for spor adic amyotrophic lateral sclerosis. (PubMed id 20385924)¹ Daoud H....Rouleau G.A. (2010)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Genome-wide association study identifies 19p13.3 (UNC 13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral scleros is. (PubMed id 19734901)¹ van Es M.A....van den Berg L.H. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 23025	HGNC: 23150	AceView: UNC13A	Ensembl:ENSG00000130477	euGenes: HUgn23025
ECgene: UNC13A	H-InvDB: UNC13A

(According to HUGE)
About This Section

HUGE: KIAA1032

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for UNC13A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for UNC13A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for UNC13A gene:
Search GeneIP for patents involving UNC13A

GeneCards and IP:
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UNC13A Gene

unc-13 homolog A (C. elegans)

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UNC13A Gene

unc-13 homolog A (C. elegans)

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