UNC13D Gene
protein-coding GIFtS: 59
GCID: GC17M073823
|
|
unc-13 homolog D (C. elegans)
| |
Aliases
for UNC13D gene
(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 D (C. Elegans)1 2 | | HPLH32 5 | | Munc13-41 2 3 | | Protein Unc-13 Homolog D2 | | FHL32 5 | | MUNC13-45 | | HLH32 5 | | |
Export aliases for UNC13D gene to outside databasesPrevious GC identifers: GC17M074420 GC17M071334 GC17M069249 |
Summaries
for UNC13D gene(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 UNC13D:
This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other familymembers but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The proteinappears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granulessecretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, agenetically heterogeneous, rare autosomal recessive disorder. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: UN13D_HUMAN, Q70J99Function: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granuledocking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leadingto the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologicsynapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells
Gene Wiki entry for UNC13D
|
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the UNC13D gene promoter:
E2F-4 E2F-3a GR E2F-5 p300 GR-beta E2F-2 E2F E2F-1 GR-alpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for UNC13D
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UNC13D |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q25.1 Ensembl cytogenetic band: 17q25.1 HGNC cytogenetic band: 17q25.3UNC13D 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)
Start:
|
73,823,306 bp from pter |
End:
|
73,840,798 bp from pter |
Size:
|
17,493 bases |
Orientation:
|
minus strand |
|
Proteins
for UNC13D gene
(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: UN13D_HUMAN, Q70J99 (See
protein sequence)Recommended Name: Protein unc-13 homolog D Size: 1090 amino acids; 123282 Da
Subunit: Interacts with DOC2A (By similarity). Interacts with RAB27A
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Late endosome. Recycling endosome. Lysosome.Note=Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles
Sequence caution: Sequence=BAB15764.1; Type=Erroneous initiation;
Secondary accessions: B4DWG9 Q9H7K5Alternative splicing: 3 isoforms: Q70J99-1 Q70J99-2 Q70J99-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for UNC13D: NX_Q70J99
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q70J99
UNC13D Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_954712.1
ENSEMBL proteins: ENSP00000466758 ENSP00000207549 ENSP00000388093 ENSP00000466149 ENSP00000466543 ENSP00000466377 ENSP00000466826 ENSP00000467653 ENSP00000464749
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
UNC13D for ontologies About GeneDecksing
UNC13D Antibody Products:
Assay Products for UNC13D: |
Protein
Domains /
Families
for UNC13D gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
UNC13D for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q70J99ProtoNet protein and cluster: Q70J99 2 Blocks protein families: IPB000008 C2 domain IPB010439 Protein of unknown function DUF1041
UniProtKB/Swiss-Prot: UN13D_HUMAN, Q70J99Domain: The MHD1 and MHD2 domains mediate localization on recycling endosomes and lysosomeSimilarity: Belongs to the unc-13 familySimilarity: Contains 2 C2 domainsSimilarity: Contains 1 MHD1 (MUNC13 homology domain 1) domainSimilarity: Contains 1 MHD2 (MUNC13 homology domain 2) domain |
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,
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: UN13D_HUMAN, Q70J99Function: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granuledocking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leadingto the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologicsynapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UNC13D (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, 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 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for UNC13D | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UNC13D |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13D |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
UNC13D for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for UNC13D:
Animal Models:
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Unc13d):
UNC13D for phenotypes About GeneDecksing
|
Pathways & Interactions
for UNC13D gene
(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 |
|---|
| 1 | Deregulation of Rab and Rab Effector Genes in Bladder Cancer | | | 2 | wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  GeneGo (Thomson Reuters) Pathway for UNC13D
1  BioSystems Pathway for UNC13D
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UNC13D
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
5 Interacting proteins for UNC13D (Q70J993 ENSP000002075494) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table
UNC13D for ontologies About GeneDecksing
|
Drugs & Compounds
for UNC13D gene(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
|
 Browse Tocris compounds for UNC13D
Search CenterWatch for drugs/clinical trials and news about UNC13D / UN13D
|
Transcripts
for UNC13D gene(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 UNC13D gene: NM_199242.2 Unigene Cluster for UNC13D: Unc-13 homolog D (C. elegans) Hs.41045 [show with all ESTs]Unigene Representative Sequence: NM_19924217 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000589670 ENST00000207549(uc002jpp.3) ENST00000412096(uc010wsk.1 uc002jpq.1 uc010dgq.1)
ENST00000586519 ENST00000590856 ENST00000586930 ENST00000591563 ENST00000591616
ENST00000586147 ENST00000587105 ENST00000587504 ENST00000592386 ENST00000590762
ENST00000587495 ENST00000585574 ENST00000586108 ENST00000588774
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UNC13D (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, 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) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for UNC13D | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UNC13D |
Additional cDNA sequence: AJ578444.1 AK300316.1 AK301529.1 BC024740.2 BC067084.1 BC139835.1 14 DOTS entries: DT.99932871 DT.100029123 DT.95170059 DT.95344172 DT.100029122 DT.100029124 DT.443862 DT.95079421 DT.99983940 DT.100798436 DT.120969949 DT.411491 DT.91717394 DT.91668336 24/204 AceView cDNA sequences (see all 204): AI421698 AI831754 BQ691298 BQ686867 AI961015 AI742099 BU179669 T83023 BF916818 BM818363 BM843786 BM726197 AI524238 BQ019180 BM851287 BQ223067 BM855779 BU501328 AJ578444 BX389742 BQ953730 BU180107 BQ689368 AI383910
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for UNC13D About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 |
|---|
|
| SP1: | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | |
ECgene alternative splicing isoforms for UNC13D
|
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 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
| UNC13D expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGATGGGGG
About this image
See UNC13D Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UNC13D
SOURCE GeneReport for Unigene cluster: Hs.41045
UniProtKB/Swiss-Prot: UN13D_HUMAN, Q70J99Tissue specificity: Expressed at high levels in spleen, thymus and leukocytes. Also expressed in lung and placenta, andat very low levels in brain, heart, skeletal muscle and kidney. Expressed in cytotoxic T-lymphocytes (CTL) and mastcells
SABiosciences Custom PCR Arrays for UNC13D
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UNC13D
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat UNC13D | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UNC13D | | | QIAGEN 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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for UNC13D gene from 5/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
UNC13D1 |
unc-13 homolog D (C. elegans) |
70.98(n)
65.4(a) |
|
417369 XM_415627.2 XP_415627.2 |
lizard
(Anolis carolinensis) |
Reptilia |
UNC13D6 |
-- |
64(a) |
1 ↔ 1 |
2(113536128-113564402) |
zebrafish
(Danio rerio) |
Actinopterygii |
BM342312.12 |
-- |
71.5(n) |
|
BM342312.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
unc-13-4A6CG343496 |
-- |
23(a)19(a) |
many ↔ manymany ↔ many |
3L(7259344-7305996) 3R(20882812-20890070) |
worm
(Caenorhabditis elegans) |
Secernentea |
F54G2.16 |
Protein F54G2.1, isoform a |
22(a) |
1 → many |
X(2621266-2664365) |
ENSEMBL Gene Tree for UNC13D (if available)
TreeFam Gene Tree for UNC13D (if available) |
Paralogs
for UNC13D gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for UNC13D gene
- UNC13C2 BAIAP32 UNC13A2 UNC13B2
2 SIMAP similar genes for UNC13D using alignment to 8 protein entries: UN13D_HUMAN (see all proteins):SYT5 BAIAP3
UNC13D for paralogs About GeneDecksing
|
Genomic Variants
for UNC13D gene(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
|
| 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 |
|---|
HapMap Linkage Disequilibrium report for UNC13D (73823306 - 73840798 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for UNC13D: --
Human Gene Mutation Database (HGMD): UNC13D
Locus Specific Mutation Databases (LSDB): UNC13D
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing 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.)
About This Section
|
UNC13D for disorders About GeneDecksing
OMIM gene information: 608897
OMIM disorders: 608898
UniProtKB/Swiss-Prot: UN13D_HUMAN, Q70J99
Defects in UNC13D are the cause of familial hemophagocytic lymphohistiocytosis type 3 (FHL3) [MIM:608898];also known as HPLH3. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomalrecessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killercell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia,hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia toseizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and anon-malignant infiltration of macrophages and activated T-lymphocytes in lymph nodes, spleen, and other organs is alsofound
13  diseases for UNC13D: About MalaCardshemophagocytic lymphohistiocytosis hemophagocytic lymphohistiocytosis, familial, 3 hemophagocytic lymphohistiocytosis, familial griscelli syndrome type 2
chediak-higashi syndrome griscelli syndrome hydrops fetalis hypofibrinogenemia
hypertriglyceridemia hypotonia ataxia arthritis
systemic onset juvenile idiopathic arthritis
2 diseases from the University of Copenhagen DISEASES database for UNC13D:Hemophagocytic lymphohistiocytosis Chediak-Higashi syndrome 3 Novoseek disease relationships for UNC13D gene About this table
GeneTests: UNC13D
Familial Hemophagocytic Lymphohistiocytosis
Human Genome Epidemiology (HuGE) Navigator: UNC13D (3 documents)
Export disorders for UNC13D gene to outside databases
|
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)
About This Section
|
PubMed articles for UNC13D gene, integrated from 9 sources (see all 55):
(articles sorted by number of sources associating them with UNC13D) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. (PubMed id 17237785)1, 2 Menager M.M.... de Saint Basile G. (2007)
- 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. (2005)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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. (2004)
- 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. (2003)
- Characterization of long cDNA clones from human adult spleen. (PubMed id 11214971)1, 2 Hattori A.... Ohara O. (2000)
- 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. (2009)
- UNC13D is the predominant causative gene with recurre nt splicing mutations in Korean patients with familial hemophagocytic lymphohis tiocytosis. (PubMed id 20015888)1, 9 Yoon H.S....Seo J.J. (2010)
- Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes. (PubMed id 15466010)1, 9 Yamamoto K....Yasukawa M. (2004)
- Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. (PubMed id 16278825)1, 9 Zur Stadt U....Hennies H.C. (2006)
|
External Searches for UNC13D gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing UNC13D gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing UNC13D gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing UNC13D gene(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 UNC13D | Pharmacogenomics, SNPs, Pathways | | UNC13Dbase | http://bioinf.uta.fi/UNC13Dbase/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UNC13D |
|
| | |
About This Section
| Patent Information for UNC13D gene:
Search GeneIP for patents involving UNC13D
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for UNC13D gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
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| | |  | OriGene Antibodies for UNC13D | | OriGene shRNA RFP for UNC13D | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UNC13D | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UNC13D | | | OriGene Protein Over-expression Lysate for UNC13D | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for UNC13D | | OriGene 3'-UTR Clone for UNC13D | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UNC13D | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UNC13D | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for UNC13D | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for UNC13D | | OriGene Custom Protein Services for UNC13D | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat UNC13D | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UNC13D | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UNC13D | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UNC13D | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UNC13D | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UNC13D |
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| | | | Search Tocris compounds for UNC13D |
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 | | | UNC13D Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13D |
|  |  |  | | | | ThermoFisher Antibody for UNC13D |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UNC13D |
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