UNC13D (unc-13 homolog D)

2011-06-01 Affiliation

Identity

HGNC

UNC13D

LOCATION

17q25.1

LOCUSID

201294

ALIAS

FHL3,HLH3,HPLH3,Munc13-4

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 201294
MIM: 608897
HGNC: 23147
Ensembl: ENSG00000092929

Variants:

dbSNP: 201294
ClinVar: 201294
TCGA: ENSG00000092929
COSMIC: UNC13D

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000092929	ENST00000207549	Q70J99
ENSG00000092929	ENST00000412096	Q70J99
ENSG00000092929	ENST00000586108	K7EIH3
ENSG00000092929	ENST00000586147	K7EMK8
ENSG00000092929	ENST00000586519	K7ELN2
ENSG00000092929	ENST00000587105	K7EM66
ENSG00000092929	ENST00000589670	K7EN29
ENSG00000092929	ENST00000590762	K7EQ37
ENSG00000092929	ENST00000592386	K7EN81

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA166182763	emapalumab	Chemical	LabelAnnotation	associated

References

Pubmed ID	Year	Title	Citations
14622600	2003	Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).	216
19120489	2009	Microbe sensing, positive feedback loops, and the pathogenesis of inflammatory diseases.	109
21881043	2011	Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.	93
16278825	2006	Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.	59
16778144	2006	Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.	57
14699162	2004	Munc13-4 is a GTP-Rab27-binding protein regulating dense core granule secretion in platelets.	55
18759271	2008	Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms.	47
18759271	2008	Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms.	47
21693760	2011	The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane.	45
22508512	2012	Munc13-4 reconstitutes calcium-dependent SNARE-mediated membrane fusion.	45

Citation

Dessen P

UNC13D (unc-13 homolog D)

Atlas Genet Cytogenet Oncol Haematol. 2011-06-01

Online version: http://atlasgeneticsoncology.org/gene/52261/unc13d