UNC13D Gene

Aliases
for UNC13D gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC17M074420 GC17M071334 GC17M069249

Summaries
for UNC13D gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for UNC13D gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000017.10  NT_010783.16  NC_018928.2  

SwitchGear Promoter luciferase reporter plasmids (see all 2): UNC13D promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UNC13D

UNC13D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M073823:  view genomic region     (about GC identifiers)

Proteins
for UNC13D gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for UNC13D: NX_Q70J99

Explore proteomics data for UNC13D at MOPED

Post-translational modifications: 

UNC13D Human Recombinant Protein Products:

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	antibodies-online proteins for UNC13D (3 products)
	antibodies-online peptides for UNC13D

UNC13D Antibody Products:

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UNC13D Assay Products:

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	antibodies-online kits for UNC13D (6 products)

Domains /
Families
for UNC13D gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q70J99

Find genes that share domains with UNC13D           About GenesLikeMe

Function
for UNC13D gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 1 molecular function term:    About this table

(inferred from 1 allele) (MGI details for Unc13d)

genOway: Develop your customized and physiologically relevant rodent model for UNC13D

miRNA Products:		miRTarBase miRNAs that target UNC13D: hsa-let-7b-5p (MIRT032278), hsa-mir-1 (MIRT023568), hsa-mir-320a (MIRT044594), hsa-mir-335-5p (MIRT017327)
		Block miRNA regulation of human, mouse, rat UNC13D using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate UNC13D
		SwitchGear 3'UTR luciferase reporter plasmid: UNC13D 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for UNC13D
		Predesigned siRNA for gene silencing in human, mouse, rat UNC13D

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for UNC13D

Clone Products:		OriGene clones in human, mouse for UNC13D (see all 7) OriGene ORF clones in mouse, rat for UNC13D OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: UNC13D (NM_199242)
		Browse Sino Biological Human cDNA Clones
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for UNC13D
		Browse ESI BIO Cell Lines and PureStem Progenitors for UNC13D

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13D

Localization
for UNC13D gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
endosome	5
lysosome	5
vacuole	5
nucleus	3
cytosol	2
plasma membrane	2
mitochondrion	1

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Gene Ontology (GO): 5 cellular component terms:    About this table

Pathways & Interactions
for UNC13D gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for UNC13D About     See pathways by source

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	SuperPath	Contained pathways About
1	wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)	wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
2	Deregulation of Rab and Rab Effector Genes in Bladder Cancer	Deregulation of Rab and Rab Effector Genes in Bladder Cancer

1 GeneGo (Thomson Reuters) Pathway for UNC13D

wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)

1 BioSystems Pathway for UNC13D

Deregulation of Rab and Rab Effector Genes in Bladder Cancer

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

Drugs & Compounds
for UNC13D gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for UNC13D gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for UNC13D gene

(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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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UNC13D expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GTGATGGGGG

About this image

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for UNC13D
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UNC13D
		QuantiTect SYBR Green Assays in human, mouse, rat UNC13D
		QuantiFast Probe-based Assays in human, mouse, rat UNC13D

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13D

Orthologs
for UNC13D gene

(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)
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Paralogs
for UNC13D gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for UNC13D gene

BAIAP3²  

2 SIMAP similar genes for UNC13D using alignment to 8 protein entries:     UN13D_HUMAN (see all proteins):

BAIAP3    SYT5

Find genes that share paralogs with UNC13D           About GenesLikeMe

Genomic Variants
for UNC13D gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for UNC13D (see all 707)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1214343521,2	C	pathogenic1	74919875(-)	GCTGCC/TGAGAG	2	R *	stg1		0	--	--	--	--
rs1116095741,2	C,F	--	73825576(+)	TCACCG/ATGTTA	1	--	int1		1		CSA	2
rs1128658161,2	C,F	--	73825807(+)	GCTGAG/CAGTAC	1	--	int1		1		NA	2
rs1133560061,2	F	--	73834455(+)	CCCCCA/GCACCT	1	--	int1		2		CSA WA	120
rs2013125441,2	C	--	73835180(+)	AAAAA-/AGCAGC	1	--	int1		0	--	--	--	--
rs1459963651,2		--	74906344(+)	CGACTA/CCTGTC	1	--	ds5001		0	--	--	--	--
rs1399439951,2		--	74906361(+)	TTGTGC/TAGACT	1	--	ds5001		0	--	--	--	--
rs1876437061,2		--	74906417(+)	GATGAC/TCAGGC	1	--	ds5001		0	--	--	--	--
rs1913469941,2		--	74906455(+)	GGAGGA/GACCCA	1	--	ds5001		0	--	--	--	--
rs1124262681,2	C,F	--	74906469(+)	CCTCTA/GCGCCC	1	--	ds5001		2		CSA WA	119

HapMap Linkage Disequilibrium report for UNC13D (73823306 - 73840798 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for UNC13D:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv908804	CNV	Loss	21882294
nsv470606	CNV	Loss	18288195
nsv908820	CNV	Loss	21882294
nsv510728	CNV	Loss	20534489
dgv3268n71	CNV	Loss	21882294
dgv3267n71	CNV	Loss	21882294
dgv3264n71	CNV	Loss	21882294
nsv833545	CNV	Gain	17160897

Human Gene Mutation Database (HGMD): UNC13D
Locus Specific Mutation Databases (LSDB): UNC13D

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing UNC13D

DNA2.0 Custom Variant and Variant Library Synthesis for UNC13D

Disorders / Diseases
for UNC13D gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Familial hemophagocytic lymphohistiocytosis 3 (FHL3) [MIM:608898]: A rare disorder characterized by

immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration

of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever,

hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and

hypotonia to seizures, cranial nerve deficits and ataxia. Note=The disease is caused by mutations affecting the

gene represented in this entry

7 diseases for UNC13D:    
About MalaCards

3 Novoseek inferred disease relationships for UNC13D gene    About this table

Publications
for UNC13D gene

(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)
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1. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. (PubMed id 18759271)^{1, 4} Zhang K....Grom A.A. (Arthritis Rheum. 2008)
2. Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. (PubMed id 18311812)^{1, 4} Donn R....Ramanan A.V. (Arthritis Rheum. 2008)
3. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. (PubMed id 18710388)^{1, 4} Horne A....Henter J.I. (Br. J. Haematol. 2008)
4. Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. (PubMed id 17237785)^{1, 2} Menager M.M.... de Saint Basile G. (Nat. Immunol. 2007)
5. Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells. (PubMed id 15548590)^{1, 2} Neeft M.... van der Sluijs P. (Mol. Biol. Cell 2005)
6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
8. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). (PubMed id 14622600)^{1, 2} Feldmann J....de Saint Basile G. (Cell 2003)
9. Characterization of long cDNA clones from human adult spleen. (PubMed id 11214971)^{1, 2} Hattori A.... Ohara O. (DNA Res. 2000)
10. Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. (PubMed id 19704116)^{1, 9} Wood S.M....Bryceson Y.T. (Blood 2009)

External Searches for UNC13D gene

Genome Databases showing UNC13D gene

Other Databases showing UNC13D gene

Specialized Databases showing UNC13D gene

Products
for UNC13D gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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