JAGN1 (jagunal homolog 1)

2014-11-01  

Identity

HGNC
JAGN1
LOCATION
3p25.3
LOCUSID
84522
ALIAS
GL009,SCN6

Other Information

Locus ID:

NCBI: 84522
MIM: 616012
HGNC: 26926
Ensembl: ENSG00000171135

Variants:

dbSNP: 84522
ClinVar: 84522
TCGA: ENSG00000171135
COSMIC: JAGN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171135ENST00000489724A0A3B3ITE9
ENSG00000171135ENST00000647897Q8N5M9

Expression (GTEx)

0
10
20
30
40
50
60
70
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

References

Pubmed IDYearTitleCitations
371205352023JAGN1 mutation with distinct clinical features; two case reports and literature review.1
371205352023JAGN1 mutation with distinct clinical features; two case reports and literature review.1
329307092021A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans.8
332069962021Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.4
329307092021A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans.8
332069962021Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.4
327836522020JAGN1, tetraspanins, and Erv proteins: is common topology indicative of common function in cargo sorting?1
327836522020JAGN1, tetraspanins, and Erv proteins: is common topology indicative of common function in cargo sorting?1
301065002018JAGN1 is required for fungal killing in neutrophil extracellular traps: Implications for severe congenital neutropenia.12
301065002018JAGN1 is required for fungal killing in neutrophil extracellular traps: Implications for severe congenital neutropenia.12
251291442014JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.46
251291452014Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense.31
251291442014JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.46
251291452014Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense.31

Citation

Dessen P

JAGN1 (jagunal homolog 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64711/jagn1-(jagunal-homolog-1)