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UNC13D Gene

protein-coding GIFtS: 62
GCID: GC17M073823

Unc-13 Homolog D (C. Elegans)

See UNC13D-related diseases
at

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(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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Aliases
Unc-13 Homolog D (C. Elegans)¹ ²		HPLH3² ⁵
Munc13-4² ³		Protein Unc-13 Homolog D²
FHL3² ⁵		MUNC13-4⁵
HLH3² ⁵

External Ids:	HGNC: 23147¹	Entrez Gene: 201294²	Ensembl: ENSG00000092929⁷	OMIM: 608897⁵	UniProtKB: Q70J99³

Export aliases for UNC13D gene to outside databases

Previous GC identifers: GC17M074420 GC17M071334 GC17M069249

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

This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other

family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The

protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic

granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type

3, a genetically heterogeneous, rare autosomal recessive disorder. (provided by RefSeq, Jul 2008)

GeneCards Summary for UNC13D Gene:

UNC13D (unc-13 homolog D (C. elegans)) is a protein-coding gene. Diseases associated with UNC13D include hemophagocytic lymphohistiocytosis, familial, and hemophagocytic lymphohistiocytosis. An important paralog of this gene is BAIAP3.

UniProtKB/Swiss-Prot: UN13D_HUMAN, Q70J99

Function: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and

granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal

structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing

granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory

lysosome exocytosis in mast cells

Gene Wiki entry 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

Regulatory elements:

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

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

Search Chromatin IP Primers for UNC13D

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 17q25.3

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

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

(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, and/or antibodies-online,
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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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

Sequence caution: Sequence=BAB15764.1; Type=Erroneous initiation;

Secondary accessions: B4DWG9 Q9H7K5

Alternative 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

Explore proteomics data for UNC13D at MOPED

Post-translational modifications:

Ubiquitination² at Lys511, Lys599, Lys625, Lys714, Lys773, Lys917

Modification sites at PhosphoSitePlus

See UNC13D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_954712.1

ENSEMBL proteins:

ENSP00000466758 ENSP00000207549 ENSP00000388093 ENSP00000466149 ENSP00000466543

ENSP00000466377 ENSP00000466826 ENSP00000467653 ENSP00000464749

UNC13D Human Recombinant Protein Products:

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	Novus Biologicals UNC13D Protein Novus Biologicals UNC13D Lysates
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	Cloud-Clone Corp. Proteins for UNC13D
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	antibodies-online proteins for UNC13D (3 products)
	antibodies-online peptides for UNC13D

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:

IPR014772 Munc13_dom-2

IPR019558 Munc13_subgr_dom-2

IPR014770 Munc13_1

IPR000008 C2_dom

Graphical View of Domain Structure for InterPro Entry Q70J99

ProtoNet protein and cluster: Q70J99

2 Blocks protein domains:

IPB000008 C2 domain

IPB010439 Protein of unknown function DUF1041

UniProtKB/Swiss-Prot: UN13D_HUMAN, Q70J99

Domain: The MHD1 and MHD2 domains mediate localization on recycling endosomes and lysosome

Similarity: Belongs to the unc-13 family

Similarity: Contains 2 C2 domains

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

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

Find genes that share domains with UNC13D About GenesLikeMe

(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.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: UN13D_HUMAN, Q70J99

Function: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and

granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal

structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing

granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory

lysosome exocytosis in mast cells

Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	15548590

Find genes that share ontologies with UNC13D About GenesLikeMe

Phenotypes:
3 GenomeRNAi human phenotypes for UNC13D:

Decreased cell number, increas

Decreased number of cells in m

Increased gamma-H2AX phosphory

3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Unc13d):

hematopoietic system

immune system

skeleton

Find genes that share phenotypes with UNC13D About GenesLikeMe

Animal Models:

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
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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

UN13D_HUMAN, Q70J99: Cytoplasm. Membrane; Peripheral membrane protein. Late endosome. Recycling endosome.

Lysosome. Note=Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic

vesicles

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	IDA	15548590
GO:0005770	late endosome	IEA	--
GO:0016020	membrane	IEA	--
GO:0055037	recycling endosome	IEA	--
GO:0070382	exocytic vesicle	IDA	17237785

Find genes that share ontologies with UNC13D About GenesLikeMe

(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 GeneDecks, 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).
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SuperPaths for UNC13D About

See pathways by source

Powered
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SuperPath

Contained pathways About

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

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

Deregulation of Rab and Rab Effector Genes in Bladder Cancer

Deregulation of Rab and Rab Effector Genes in Bladder Cancer

Pathways by source See SuperPaths
Show all pathways

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

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for UNC13D
Interactions:

GeneGlobe Interaction 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 I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RAB27B	O00194³, ENSP00000262094⁴	I2D: score=1 STRING: ENSP00000262094
RAB27A	P51159³, ENSP00000337761⁴	I2D: score=2 STRING: ENSP00000337761
LMNA	P02545³, ENSP00000357283⁴	I2D: score=1 STRING: ENSP00000357283
ARF6	P62330³	I2D: score=4
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002432	granuloma formation	IEA	--
GO:0002467	germinal center formation	IEA	--
GO:0006909	phagocytosis	IEA	--
GO:0043304	regulation of mast cell degranulation	IMP	15548590
GO:0043320	natural killer cell degranulation	IEA	--

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(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)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for UNC13D (UN13D)

(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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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_199242

17 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

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Additional mRNA 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

Selected AceView cDNA sequences (see all 204):

BG054744 BU180107 BQ691298 BM726197 BM855779 BQ953730 BM717755 AI085248

NM_199242 AI524238 BM843786 BM818363 BQ223067 BM851221 AI961015 BF916818

BU501328 AW137239 BQ686867 BX389742 BM821675 BM851287 AJ578444 T83023

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

(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™, 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

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UNC13D Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

UNC13D Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.41045

UniProtKB/Swiss-Prot: UN13D_HUMAN, Q70J99

Tissue specificity: Expressed at high levels in spleen, thymus and leukocytes. Also expressed in lung and

placenta, and at very low levels in brain, heart, skeletal muscle and kidney. Expressed in cytotoxic

T-lymphocytes (CTL) and mast cells

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In Situ
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(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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This gene was present in the common ancestor of animals.

Orthologs for UNC13D gene from Selected species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Unc13d^{1 , 5}	unc-13 homolog D (C. elegans)^{1, 5}	86.17(n)¹ 88.17(a)¹		11 (80.91 cM)⁵ 70450¹ NM_001009573.2¹ NP_001009573.2¹ 116062095⁵
chicken (Gallus gallus)	Aves	UNC13D¹	unc-13 homolog D (C. elegans)	71.18(n) 65.71(a)		417369 XM_004946128.1 XP_004946185.1
lizard (Anolis carolinensis)	Reptilia	UNC13D⁶	unc-13 homolog D (C. elegans)	63(a)	1 ↔ 1	2(113500107-113564402)
tropical clawed frog (Xenopus tropicalis)	Amphibia	unc13d¹	unc-13 homolog D	62.23(n) 59.93(a)		100145635 NM_001127035.1 NP_001120507.1
zebrafish (Danio rerio)	Actinopterygii	BM342312.1²	--	71.5(n)		BM342312.1
fruit fly (Drosophila melanogaster)	Insecta	unc-13-4A⁶ CG34349⁶	--	23(a) 21(a)	many ↔ many many ↔ many	3L(7259344-7305996) 3R(20882812-20890070)
worm (Caenorhabditis elegans)	Secernentea	F54G2.1⁶	Protein F54G2.1, isoform a	22(a)	1 → many	X(2621274-2664373) WBGene00018837

ENSEMBL Gene Tree for UNC13D (if available)
TreeFam Gene Tree for UNC13D (if available)

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

(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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SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121434352^1,2	C	pathogenic¹	74919875(-)	`GCTGCC/TGAGAG`	2	R *	stg¹		0	--	--	--	--
rs111609574^1,2	C,F	--	73825576(+)	`TCACCG/ATGTTA`	1	--	int¹		1		CSA	2
rs112865816^1,2	C,F	--	73825807(+)	`GCTGAG/CAGTAC`	1	--	int¹		1		NA	2
rs113356006^1,2	F	--	73834455(+)	`CCCCCA/GCACCT`	1	--	int¹		2		CSA WA	120
rs201312544^1,2	C	--	73835180(+)	`AAAAA-/AGCAGC`	1	--	int¹		0	--	--	--	--
rs145996365^1,2		--	74906344(+)	`CGACTA/CCTGTC`	1	--	ds500¹		0	--	--	--	--
rs139943995^1,2		--	74906361(+)	`TTGTGC/TAGACT`	1	--	ds500¹		0	--	--	--	--
rs187643706^1,2		--	74906417(+)	`GATGAC/TCAGGC`	1	--	ds500¹		0	--	--	--	--
rs191346994^1,2		--	74906455(+)	`GGAGGA/GACCCA`	1	--	ds500¹		0	--	--	--	--
rs112426268^1,2	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

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(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.)
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OMIM gene information: 608897
OMIM disorders: 608898
UniProtKB/Swiss-Prot: UN13D_HUMAN, Q70J99

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:
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hemophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytosis macrophage activation syndrome griscelli syndrome

chediak-higashi syndrome hemophagocytic lymphohistiocytosis, familial, 3 hemophagocytic lymphohistiocytosis, familial, 4

2 inferred disease relationships from the University of Copenhagen DISEASES database for UNC13D:

Hemophagocytic lymphohistiocytosis Chediak-Higashi syndrome

Find genes that share disorders with UNC13D About GenesLikeMe

3 Novoseek inferred disease relationships for UNC13D gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
familial hemophagocytic lymphohistiocytosis	96.6	11	16778144 (2), 20015888 (1), 19704116 (1), 16962048 (1) (see all 5)
griscelli syndrome, type 2	95.4	4	19704116 (1), 16962048 (1)
lymphohistiocytosis hemophagocytic	78.8	1	16278825 (1)

GeneTests: UNC13D
GeneReviews: UNC13D
Genetic Association Database (GAD): UNC13D
Human Genome Epidemiology (HuGE) Navigator: UNC13D (3 documents)

Export disorders for UNC13D 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)
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PubMed articles for UNC13D gene, integrated from 10 sources (see all 60):
(articles sorted by number of sources associating them with UNC13D)

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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)
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)
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)
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)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 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. (Cell 2003)
Characterization of long cDNA clones from human adult spleen. (PubMed id 11214971)^{1, 2} Hattori A.... Ohara O. (DNA Res. 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. (Blood 2009)

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

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 201294	HGNC: 23147	AceView: UNC13D	Ensembl:ENSG00000092929	euGenes: HUgn201294
ECgene: UNC13D	H-InvDB: UNC13D

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for UNC13D	Pharmacogenomics, SNPs, Pathways
UNC13Dbase	http://bioinf.uta.fi/UNC13Dbase/
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=UNC13D[genesymbol]

Intellectual Property for UNC13D 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 UNC13D gene:
Search GeneIP for patents involving UNC13D

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UNC13D Gene

Unc-13 Homolog D (C. Elegans)

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UNC13D Gene

Unc-13 Homolog D (C. Elegans)

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