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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]
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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
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2 | wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) |
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
-
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3 | Deregulation of Rab and Rab Effector Genes in Bladder Cancer |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
emapalumab | Approved, Investigational | Pharma | 0 |
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: |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hemophagocytic lymphohistiocytosis, familial, 3 |
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hemophagocytic lymphohistiocytosis, familial, 1 |
|
|
hemophagocytic lymphohistiocytosis |
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griscelli syndrome, type 2 |
|
|
primary hemophagocytic lymphohistiocytosis |
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