Free for academic non-profit institutions. Other users need a Commercial license
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 a... See more...
Aliases for UNC13D Gene
Aliases for UNC13D Gene
External Ids for UNC13D Gene
- HGNC: 23147
- NCBI Entrez Gene: 201294
- Ensembl: ENSG00000092929
- OMIM®: 608897
- UniProtKB/Swiss-Prot: Q70J99
Previous GeneCards Identifiers for UNC13D Gene
- GC17M074420
- GC17M071334
- GC17M073823
- GC17M069249
Summaries 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) is a Protein Coding gene. Diseases associated with UNC13D include Hemophagocytic Lymphohistiocytosis, Familial, 3 and Hemophagocytic Lymphohistiocytosis, Familial, 1. Among its related pathways are wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) and Innate Immune System. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding. An important paralog of this gene is BAIAP3.
UniProtKB/Swiss-Prot Summary for UNC13D Gene
-
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.
Additional gene information for UNC13D Gene
- HGNC (23147)
- NCBI Entrez Gene (201294)
- Ensembl (ENSG00000092929)
- OMIM® (608897)
- UniProtKB/Swiss-Prot (Q70J99)
- Open Targets Platform(ENSG00000092929)
- Monarch Initiative
- Search for UNC13D at DataMed
- Search for UNC13D at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UNC13D Gene
Genomics for UNC13D Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for UNC13D Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around UNC13D on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UNC13D
- Top Transcription factor binding sites by QIAGEN in the UNC13D gene promoter:
-
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- GR
- GR-alpha
- GR-beta
- p300
Genomic Locations for UNC13D Gene
Latest Assembly
- chr17:75,827,225-75,844,552
- (GRCh38/hg38)
- Size:
- 17,328 bases
- Orientation:
- Minus strand
Previous Assembly
- chr17:73,823,306-73,840,485
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 17,180 bases
- Orientation:
- Minus strand
- chr17:73,823,306-73,840,798
- (GRCh37/hg19 by Ensembl)
- Size:
- 17,493 bases
- Orientation:
- Minus strand
Genomic View for UNC13D Gene
Genes around UNC13D on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.3 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
UNC13D Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for UNC13D Gene
Proteins for UNC13D Gene
-
Protein details for UNC13D Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q70J99-UN13D_HUMAN
- Recommended name:
- Protein unc-13 homolog D
- Protein Accession:
- Q70J99
- B4DWG9
- Q9H7K5
Protein attributes for UNC13D Gene
- Size:
- 1090 amino acids
- Molecular mass:
- 123282 Da
- Cofactor:
- Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
- Quaternary structure:
-
- Interacts with DOC2A (By similarity). Interacts with RAB27A.
- SequenceCaution:
-
- Sequence=BAB15764.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for UNC13D Gene
Post-translational modifications for UNC13D Gene
Other Protein References for UNC13D Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences UNC13D Antibody and UNC13D Monoclonal Antibody
- G Biosciences Immunotag™ UNC13D Antibody
- Novus Biologicals Antibodies for UNC13D
-
Abcam antibodies for UNC13D
- Invitrogen Antibodies for UNC13D (AFLGC-Unc13d)
-
Biorbyt antibodies for UNC13D
-
Boster Bio Antibodies for UNC13D
-
Custom Antibody ServicesProSci Antibodies for UNC13D
-
Santa Cruz Biotechnology (SCBT) Antibodies for UNC13D
Protein products for research
-
OriGene Purified Proteins for UNC13D
- Search Origene for MassSpec and Protein Over-expression Lysates for UNC13D
- Origene Custom Protein Services for UNC13D
-
Abcam proteins for UNC13D
Assay products for research
No data available for DME Specific Peptides for UNC13D Gene
Domains & Families for UNC13D Gene
Gene Families for UNC13D Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for UNC13D Gene
- InterPro:
- Blocks:
-
- C2 domain
- Protein of unknown function DUF1041
- ProtoNet:
Suggested Antigen Peptide Sequences for UNC13D Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ54883, highly similar to Unc-13 homolog D (B4DTQ6_HUMAN)
- Munc13-4 (UN13D_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q70J99UniProtKB/Swiss-Prot:
UN13D_HUMAN :- The MHD1 and MHD2 domains mediate localization on recycling endosomes and lysosome.
- Belongs to the unc-13 family.
- Domain:
-
- The MHD1 and MHD2 domains mediate localization on recycling endosomes and lysosome.
- Family:
-
- Belongs to the unc-13 family.
Function for UNC13D Gene
Molecular function for UNC13D Gene
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for UNC13D Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15548590 |
| GO:0031267 | small GTPase binding | IPI | 22899725 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for UNC13D Gene
- MGI mutant phenotypes for UNC13D:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for UNC13D:
-
- Increased gamma-H2AX phosphorylation
- Increased vaccinia virus (VACV) infection
- no effect
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased IL-8 secretion
- Decreased number of cells in monopolar arrest with EMD534085 (a Kinesin-5 inhibitor)
- Increased nuclear migration speed
- Decreased cell number, increased S DNA content
Animal Models for UNC13D Gene
- MGI Knock Outs for UNC13D:
-
- Unc13d Unc13d<tm1(KOMP)Vlcg>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for UNC13D - Starting at $85 >
- * UNC13D CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for UNC13D
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UNC13D
-
Santa Cruz Biotechnology (SCBT) CRISPR for UNC13D
miRNA for UNC13D Gene
- miRTarBase miRNAs that target UNC13D
-
- hsa-miR-335-5p (MIRT017327)
- hsa-miR-1-3p (MIRT023568)
- hsa-let-7b-5p (MIRT032278)
- hsa-miR-320a (MIRT044594)
- hsa-miR-3180-5p (MIRT650852)
- hsa-miR-7150 (MIRT650853)
- hsa-miR-6867-3p (MIRT650854)
- hsa-miR-211-5p (MIRT650855)
- hsa-miR-204-5p (MIRT650856)
- hsa-miR-6826-3p (MIRT650857)
- hsa-miR-4736 (MIRT650858)
- hsa-miR-4763-3p (MIRT650859)
- hsa-miR-1207-5p (MIRT650860)
- hsa-miR-4685-3p (MIRT650861)
- hsa-miR-4287 (MIRT650862)
- hsa-miR-7113-3p (MIRT650863)
- hsa-miR-4469 (MIRT650864)
- hsa-miR-6832-3p (MIRT650865)
- hsa-miR-6892-3p (MIRT650866)
- hsa-miR-6795-3p (MIRT650867)
- hsa-miR-6887-3p (MIRT650868)
- hsa-miR-665 (MIRT650869)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UNC13D
- Browse OriGene Inhibitory RNA Products For UNC13D
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UNC13D
Clone products for research
- Applied Biological Materials (abm): Clones for UNC13D - Starting at $45 >
- * UNC13D as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for UNC13D
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UNC13D
Cell Lines for research
-
Horizon Cell Lines for UNC13D
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for UNC13D Gene
Localization for UNC13D Gene
Subcellular locations from UniProtKB/Swiss-Prot for UNC13D Gene
- Cytoplasm. Membrane. Peripheral membrane protein. Late endosome. Recycling endosome. Lysosome. Note=Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles.
| Compartment | Confidence |
|---|---|
| endosome | 5 |
| cytosol | 5 |
| lysosome | 5 |
| extracellular | 4 |
| nucleus | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| golgi apparatus | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (3)
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005764 | lysosome | IEA,IDA | 15548590 |
| GO:0005768 | endosome | IEA | -- |
| GO:0005770 | late endosome | IEA | -- |
Pathways & Interactions for UNC13D Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) |
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
-
|
|
| 3 | Deregulation of Rab and Rab Effector Genes in Bladder Cancer | ||
Pathways by source for UNC13D Gene
1 BioSystems pathway for UNC13D Gene
3 Reactome pathways for UNC13D Gene
1 GeneGo (Thomson Reuters) pathway for UNC13D Gene
- wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
Interacting Proteins for UNC13D Gene
Selected Interacting proteins:
Q70J99-UN13D_HUMAN
ENSP00000207549
for UNC13D Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for UNC13D
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002432 | granuloma formation | IEA | -- |
| GO:0002467 | germinal center formation | IEA | -- |
| GO:0006887 | exocytosis | IEA | -- |
| GO:0006909 | phagocytosis | IEA | -- |
| GO:0043304 | regulation of mast cell degranulation | IMP | 15548590 |
No data available for SIGNOR curated interactions for UNC13D Gene
Drugs & Compounds for UNC13D Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| emapalumab | Approved, Investigational | Pharma | 0 |
Transcripts for UNC13D Gene
mRNA/cDNA for UNC13D Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000207549 4080 nts (view in UCSC)
- ENST00000412096 3648 nts (view in UCSC)
- ENST00000585574 658 nts (view in UCSC)
- ENST00000586108 575 nts (view in UCSC)
- ENST00000586147 589 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for UNC13D - Starting at $85 >
- * UNC13D CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for UNC13D
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UNC13D
-
Santa Cruz Biotechnology (SCBT) CRISPR for UNC13D
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UNC13D
- Browse OriGene Inhibitory RNA Products For UNC13D
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UNC13D
Clone products for research
- Applied Biological Materials (abm): Clones for UNC13D - Starting at $45 >
- * UNC13D as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for UNC13D
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UNC13D
| 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: |
Relevant External Links for UNC13D Gene
- GeneLoc Exon Structure for
- UNC13D
Expression for UNC13D Gene
mRNA differential expression in normal tissues according to GTEx for UNC13D Gene
This gene is overexpressed in Whole Blood (x17.3) and Spleen (x4.4).
This gene is overexpressed in Peripheral blood mononuclear cells (35.9), Platelet (8.5), and Monocytes (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UNC13D Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UNC13D
SOURCE GeneReport for Unigene cluster for UNC13D Gene:
Hs.41045mRNA Expression by UniProt/SwissProt for UNC13D Gene:
Q70J99-UN13D_HUMAN
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.
Evidence on tissue expression from TISSUES for UNC13D Gene
- Blood(4.7)
- Spleen(4.5)
- Liver(4.4)
- Pancreas(4.4)
- Bone marrow(2.9)
- Lymph node(2.4)
- Nervous system(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for UNC13D Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebrospinal fluid
- ear
- eye
- head
- meninges
- mouth
- neck
- skull
Thorax:
- heart
- lung
Abdomen:
- biliary tract
- duodenum
- intestine
- liver
- pancreas
- small intestine
- spleen
Limb:
- lower limb
- upper limb
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- lymph node
- red blood cell
- skin
- spinal cord
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for UNC13D
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for UNC13D Gene
Orthologs for UNC13D Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | UNC13D 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | UNC13D 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | UNC13D 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Unc13d 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Unc13d 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | UNC13D 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | UNC13D 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | UNC13D 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | unc13d 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | unc13d 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4543 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | unc-13-4A 31 |
|
ManyToMany | |
| CG34349 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | F54G2.1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for UNC13D was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for UNC13D Gene
- ENSEMBL:
- Gene Tree for UNC13D (if available)
- TreeFam:
- Gene Tree for UNC13D (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for UNC13D: view image
Paralogs for UNC13D Gene
Variants for UNC13D Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UNC13D Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 834682 | Uncertain Significance: Familial hemophagocytic lymphohistiocytosis 3 | 75,831,286(-) |
C/T NM_199242.3(UNC13D):c.2510G>A (p.Arg837His) |
MISSENSE | |
| 835006 | Uncertain Significance: Familial hemophagocytic lymphohistiocytosis 3 | 75,835,458(-) |
G/A NM_199242.3(UNC13D):c.1799C>T (p.Thr600Met) |
MISSENSE | |
| 835897 | Uncertain Significance: Familial hemophagocytic lymphohistiocytosis 3 | 75,840,226(-) |
C/T NM_199242.3(UNC13D):c.857G>A (p.Arg286Gln) |
MISSENSE | |
| 836007 | Uncertain Significance: Familial hemophagocytic lymphohistiocytosis 3 | 75,842,910(-) |
C/G NM_199242.3(UNC13D):c.335G>C (p.Cys112Ser) |
MISSENSE | |
| 836278 | Uncertain Significance: Familial hemophagocytic lymphohistiocytosis 3 | 75,834,670(-) |
C/T NM_199242.3(UNC13D):c.2039G>A (p.Arg680Gln) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
57.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.81;
83.43% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for UNC13D Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UNC13D Gene
Disorders for UNC13D Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hemophagocytic lymphohistiocytosis, familial, 3 |
|
|
| hemophagocytic lymphohistiocytosis, familial, 1 |
|
|
| hemophagocytic lymphohistiocytosis |
|
|
| griscelli syndrome, type 2 |
|
|
| primary hemophagocytic lymphohistiocytosis |
|
|
Search UNC13D in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
UN13D_HUMAN- Hemophagocytic lymphohistiocytosis, familial, 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. {ECO:0000269 PubMed:14622600}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for UNC13D
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for UNC13D Gene
Publications for UNC13D Gene
- Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. (PMID: 16825436) Santoro A … Aricò M (Journal of medical genetics 2006) 3 23 74
- Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). (PMID: 14622600) Feldmann J … de Saint Basile G (Cell 2003) 3 4 74
- UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. (PMID: 20015888) Yoon HS … Seo JJ (Haematologica 2010) 3 23
- Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. (PMID: 19704116) Wood SM … Bryceson YT (Blood 2009) 3 23
- Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. (PMID: 18710388) Horne A … Henter JI (British journal of haematology 2008) 3 41
ExternalLinks
Products for UNC13D Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for UNC13D
- Search Origene for MassSpec and Protein Over-expression Lysates for UNC13D
- Origene Custom Protein Services for UNC13D
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UNC13D
- Browse OriGene Inhibitory RNA Products For UNC13D
- OriGene qPCR primer pairs for UNC13D
- OriGene CRISPR knockouts for UNC13D
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For UNC13D
- Sino Biological Human cDNA Clone for UNC13D
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for UNC13D
- Novus Biologicals proteins and lysates for UNC13D
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for UNC13D
- Abcam proteins for UNC13D
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for UNC13D (AFLGC-Unc13d)
- VectorBuilder Custom and pre-made DNA vectors for UNC13D (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for UNC13D (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for UNC13D (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for UNC13D CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for UNC13D
- antibodies-online: Show 14 available UNC13D Antibodies ranked by validation data
- Compare Top UNC13D Antibodies
- antibodies-online: Search results for available UNC13D related products ranked by validation data
- antibodies-online: Show 3 available UNC13D Proteins ranked by validation data
- Compare Top UNC13D Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for UNC13D
- Search Santa Cruz Biotechnology (SCBT) for UNC13D siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for UNC13D
- Horizon Cell Lines for UNC13D
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UNC13D
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UNC13D
- Search GeneCopoeia for miRNA 3'UTR Target clone products for UNC13D
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UNC13D
- Boster Bio Antibodies for UNC13D
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for UNC13D
Sources for UNC13D Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB