LAMP2 (lysosomal associated membrane protein 2)

2003-06-01  

Identity

HGNC
LAMP2
LOCATION
Xq24
LOCUSID
3920
ALIAS
CD107b,DND,LAMP-2,LAMPB,LGP-96,LGP110
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3920
MIM: 309060
HGNC: 6501
Ensembl: ENSG00000005893

Variants:

dbSNP: 3920
ClinVar: 3920
TCGA: ENSG00000005893
COSMIC: LAMP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000005893ENST00000200639P13473
ENSG00000005893ENST00000371335P13473
ENSG00000005893ENST00000434600P13473
ENSG00000005893ENST00000486593H0YCG2

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
Autophagy - animalKEGGko04140
Autophagy - animalKEGGhsa04140
LysosomeKEGGko04142
LysosomeKEGGhsa04142
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379837192024Comparative study of the steady-state subcellular distribution of lysosome-associated membrane glycoprotein-2 (LAMP-2) isoforms with GYXXΦ-type tyrosine-based motifs that interact differently with four adaptor protein (AP) complexes.0
382563602024Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.0
387176392024LAMP2A regulates cisplatin resistance in colorectal cancer through mediating autophagy.0
379837192024Comparative study of the steady-state subcellular distribution of lysosome-associated membrane glycoprotein-2 (LAMP-2) isoforms with GYXXΦ-type tyrosine-based motifs that interact differently with four adaptor protein (AP) complexes.0
382563602024Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.0
387176392024LAMP2A regulates cisplatin resistance in colorectal cancer through mediating autophagy.0
366552422023[Clinical characteristics of Danon disease].0
369422782023Downregulation of Lysosome-Associated Membrane Protein-2A Contributes to the Pathogenesis of COPD.2
372779242023Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease.3
372886682023Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease.1
373908182023Lysosomal LAMP proteins regulate lysosomal pH by direct inhibition of the TMEM175 channel.13
376285912023Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.1
366552422023[Clinical characteristics of Danon disease].0
369422782023Downregulation of Lysosome-Associated Membrane Protein-2A Contributes to the Pathogenesis of COPD.2
372779242023Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease.3

Citation

Dessen P

LAMP2 (lysosomal associated membrane protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41122