Details for: LAMP2

Gene ID: 3920

Symbol: LAMP2

Ensembl ID: ENSG00000005893

Description: lysosomal associated membrane protein 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 413.6739
    Cell Significance Index: -64.3500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 240.6528
    Cell Significance Index: -61.0400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 148.4995
    Cell Significance Index: -70.1100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 141.7329
    Cell Significance Index: -57.5800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 127.2976
    Cell Significance Index: -65.4800
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 104.8177
    Cell Significance Index: -70.3400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 60.4142
    Cell Significance Index: -57.6800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 54.1909
    Cell Significance Index: -66.8200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 23.5921
    Cell Significance Index: -63.2000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 17.3059
    Cell Significance Index: -68.2900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 17.2947
    Cell Significance Index: -53.1200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 11.7816
    Cell Significance Index: -25.7900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 4.4022
    Cell Significance Index: 205.2500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.8746
    Cell Significance Index: 39.2200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.7299
    Cell Significance Index: 49.5900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.6496
    Cell Significance Index: 179.4300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.3219
    Cell Significance Index: 181.5300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.0653
    Cell Significance Index: 581.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9549
    Cell Significance Index: 172.1300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.9416
    Cell Significance Index: 25.6300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9147
    Cell Significance Index: 183.4800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.8955
    Cell Significance Index: 23.9100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.8356
    Cell Significance Index: 369.4400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.8154
    Cell Significance Index: 60.7700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8118
    Cell Significance Index: 161.1000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8068
    Cell Significance Index: 99.2100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.6421
    Cell Significance Index: 30.1800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6138
    Cell Significance Index: 60.7200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.5847
    Cell Significance Index: 99.8400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5582
    Cell Significance Index: 71.5600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5030
    Cell Significance Index: 180.4300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4774
    Cell Significance Index: 90.8500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.4604
    Cell Significance Index: 12.3200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4122
    Cell Significance Index: 29.1500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3729
    Cell Significance Index: 48.1700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3729
    Cell Significance Index: 257.9400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.3257
    Cell Significance Index: 6.0200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2862
    Cell Significance Index: 46.5600
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.1515
    Cell Significance Index: 3.5000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1022
    Cell Significance Index: 192.4500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0916
    Cell Significance Index: 10.4600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0007
    Cell Significance Index: -0.5000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0107
    Cell Significance Index: -6.6900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0180
    Cell Significance Index: -33.1500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0229
    Cell Significance Index: -14.5300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0245
    Cell Significance Index: -18.1200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0283
    Cell Significance Index: -43.5800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0305
    Cell Significance Index: -0.8800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0385
    Cell Significance Index: -29.1400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0404
    Cell Significance Index: -4.1300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0473
    Cell Significance Index: -21.4800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0483
    Cell Significance Index: -1.3500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0491
    Cell Significance Index: -66.8200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0691
    Cell Significance Index: -3.1300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0693
    Cell Significance Index: -4.4700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0821
    Cell Significance Index: -46.2800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1311
    Cell Significance Index: -27.6200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1773
    Cell Significance Index: -9.2100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1844
    Cell Significance Index: -21.1300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1856
    Cell Significance Index: -53.4000
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.2353
    Cell Significance Index: -5.7400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2412
    Cell Significance Index: -8.4800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2467
    Cell Significance Index: -35.8600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3179
    Cell Significance Index: -37.4900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3185
    Cell Significance Index: -37.1200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3210
    Cell Significance Index: -24.6300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3238
    Cell Significance Index: -19.9100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3664
    Cell Significance Index: -19.0900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4295
    Cell Significance Index: -24.1000
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.4984
    Cell Significance Index: -7.5700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.5175
    Cell Significance Index: -26.1500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5535
    Cell Significance Index: -57.6300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.6138
    Cell Significance Index: -41.2700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.6492
    Cell Significance Index: -12.6700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.6975
    Cell Significance Index: -18.3400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.7308
    Cell Significance Index: -12.3100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.7348
    Cell Significance Index: -58.2000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.8222
    Cell Significance Index: -21.1400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.8468
    Cell Significance Index: -18.3500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.0239
    Cell Significance Index: -53.7600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.0274
    Cell Significance Index: -21.8800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -1.0591
    Cell Significance Index: -36.8100
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -1.0716
    Cell Significance Index: -15.0200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -1.0853
    Cell Significance Index: -68.4000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.1218
    Cell Significance Index: -49.6200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.1233
    Cell Significance Index: -68.8700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.1405
    Cell Significance Index: -30.5600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.1951
    Cell Significance Index: -35.2000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -1.2608
    Cell Significance Index: -21.1000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -1.2901
    Cell Significance Index: -37.8900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.3769
    Cell Significance Index: -44.1000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.3772
    Cell Significance Index: -52.1500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -1.3820
    Cell Significance Index: -35.3100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -1.3884
    Cell Significance Index: -56.8900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -1.4348
    Cell Significance Index: -16.3000
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -1.4363
    Cell Significance Index: -15.4000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.4514
    Cell Significance Index: -53.2800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.5220
    Cell Significance Index: -53.3200
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -1.5861
    Cell Significance Index: -33.0800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -1.6142
    Cell Significance Index: -23.8300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** LAMP2 exhibits several key characteristics that define its function and regulation: 1. **Transmembrane localization**: LAMP2 is a transmembrane protein, spanning the lysosomal membrane and interacting with various cellular components. 2. **Glycoprotein**: LAMP2 is a glycoprotein, featuring carbohydrate modifications that modulate its function and interactions. 3. **Autophagy-related**: LAMP2 is involved in autophagy, a process by which cells degrade and recycle damaged or dysfunctional components. 4. **Chaperone-mediated autophagy**: LAMP2 is specifically involved in chaperone-mediated autophagy, a process that involves the recognition and degradation of specific proteins. 5. **Regulation of protein stability**: LAMP2 regulates protein stability by interacting with chaperones and other proteins that modulate protein degradation. **Pathways and Functions** LAMP2 is involved in several cellular pathways and processes, including: 1. **Autophagosome maturation**: LAMP2 regulates the maturation of autophagosomes, the organelles responsible for autophagy. 2. **Autophagy**: LAMP2 is involved in the clearance of damaged or dysfunctional cellular components through autophagy. 3. **Chaperone-mediated autophagy**: LAMP2 specifically regulates the recognition and degradation of specific proteins through chaperone-mediated autophagy. 4. **Immune response**: LAMP2 is involved in the regulation of immune responses, including neutrophil degranulation and platelet activation. 5. **Cellular homeostasis**: LAMP2 maintains cellular homeostasis by regulating protein degradation and the clearance of damaged or dysfunctional cellular components. **Clinical Significance** Dysregulation of LAMP2 has been implicated in various diseases, including: 1. **Muscular dystrophy**: LAMP2 mutations have been associated with certain forms of muscular dystrophy. 2. **Neurodegenerative diseases**: LAMP2 has been implicated in neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease. 3. **Cancer**: LAMP2 has been associated with cancer, particularly in the context of autophagy and protein degradation. 4. **Inflammatory disorders**: LAMP2 plays a role in regulating immune responses, and its dysregulation has been implicated in inflammatory disorders, such as atherosclerosis. In conclusion, LAMP2 is a critical protein involved in various cellular processes, including autophagy, immune response, and cellular homeostasis. Its dysregulation has been implicated in various diseases, highlighting the importance of LAMP2 in maintaining cellular homeostasis and responding to environmental stress.

Genular Protein ID: 890772727

Symbol: LAMP2_HUMAN

Name: CD107 antigen-like family member B

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3198605

Title: Cloning of cDNAs encoding human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2. Comparison of their deduced amino acid sequences.

PubMed ID: 3198605

DOI: 10.1016/s0021-9258(18)37370-8

PubMed ID: 8517882

Title: The genes of major lysosomal membrane glycoproteins, lamp-1 and lamp-2. 5'-flanking sequence of lamp-2 gene and comparison of exon organization in two genes.

PubMed ID: 8517882

DOI: 10.1016/s0021-9258(18)52972-0

PubMed ID: 8407947

Title: Molecular and cellular characterization of Mex-/methylation-resistant phenotype. Gene and cDNA cloning, serum dependence, and tumor suppression of transfectant strains.

PubMed ID: 8407947

DOI: 10.1016/s0021-9258(19)36899-1

PubMed ID: 7999007

Title: Complete cDNA sequence of human lysosome-associated membrane protein-2.

PubMed ID: 7999007

DOI: 10.1006/bbrc.1994.2620

PubMed ID: 7488019

Title: An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner.

PubMed ID: 7488019

DOI: 10.1006/bbrc.1995.2528

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2912382

Title: Purification and characterization of human lysosomal membrane glycoproteins.

PubMed ID: 2912382

DOI: 10.1016/0003-9861(89)90597-3

PubMed ID: 15340161

Title: Signal peptide prediction based on analysis of experimentally verified cleavage sites.

PubMed ID: 15340161

DOI: 10.1110/ps.04682504

PubMed ID: 2243102

Title: The polylactosaminoglycans of human lysosomal membrane glycoproteins lamp-1 and lamp-2. Localization on the peptide backbones.

PubMed ID: 2243102

DOI: 10.1016/s0021-9258(17)30530-6

PubMed ID: 8323299

Title: Assignment of O-glycan attachment sites to the hinge-like regions of human lysosomal membrane glycoproteins lamp-1 and lamp-2.

PubMed ID: 8323299

DOI: 10.1006/abbi.1993.1322

PubMed ID: 8662539

Title: A receptor for the selective uptake and degradation of proteins by lysosomes.

PubMed ID: 8662539

DOI: 10.1126/science.273.5274.501

PubMed ID: 11082038

Title: Unique properties of lamp2a compared to other lamp2 isoforms.

PubMed ID: 11082038

DOI: 10.1242/jcs.113.24.4441

PubMed ID: 12754519

Title: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.

PubMed ID: 12754519

DOI: 10.1038/nbt827

PubMed ID: 15894275

Title: Lamp-2a facilitates MHC class II presentation of cytoplasmic antigens.

PubMed ID: 15894275

DOI: 10.1016/j.immuni.2005.03.009

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 16190986

Title: Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2.

PubMed ID: 16190986

DOI: 10.1111/j.1600-0854.2005.00337.x

PubMed ID: 17897319

Title: Integral and associated lysosomal membrane proteins.

PubMed ID: 17897319

DOI: 10.1111/j.1600-0854.2007.00643.x

PubMed ID: 18644871

Title: The chaperone-mediated autophagy receptor organizes in dynamic protein complexes at the lysosomal membrane.

PubMed ID: 18644871

DOI: 10.1128/mcb.02070-07

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 20518820

Title: LAMP-2-deficient human B cells exhibit altered MHC class II presentation of exogenous antigens.

PubMed ID: 20518820

DOI: 10.1111/j.1365-2567.2010.03309.x

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22641697

Title: The lysosomal polypeptide transporter TAPL is stabilized by interaction with LAMP-1 and LAMP-2.

PubMed ID: 22641697

DOI: 10.1242/jcs.087346

PubMed ID: 24880125

Title: Degradation of AF1Q by chaperone-mediated autophagy.

PubMed ID: 24880125

DOI: 10.1016/j.yexcr.2014.05.013

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27628032

Title: LAMP-2 is required for incorporating syntaxin-17 into autophagosomes and for their fusion with lysosomes.

PubMed ID: 27628032

DOI: 10.1242/bio.018648

PubMed ID: 26856698

Title: LAMP-2C inhibits MHC class II presentation of cytoplasmic antigens by disrupting chaperone-mediated autophagy.

PubMed ID: 26856698

DOI: 10.4049/jimmunol.1501476

PubMed ID: 32295904

Title: Lysosome-Associated Membrane Proteins Support the Furin-Mediated Processing of the Mumps Virus Fusion Protein.

PubMed ID: 32295904

DOI: 10.1128/jvi.00050-20

PubMed ID: 36586411

Title: Palmitoylation prevents sustained inflammation by limiting NLRP3 inflammasome activation through chaperone-mediated autophagy.

PubMed ID: 36586411

DOI: 10.1016/j.molcel.2022.12.002

PubMed ID: 36481789

Title: Deficiency of cancer/testis antigen gene CT55 causes male infertility in humans and mice.

PubMed ID: 36481789

DOI: 10.1038/s41418-022-01098-6

PubMed ID: 37390818

Title: Lysosomal LAMP proteins regulate lysosomal pH by direct inhibition of the TMEM175 channel.

PubMed ID: 37390818

DOI: 10.1016/j.molcel.2023.06.004

PubMed ID: 25342746

Title: Structure of transmembrane domain of lysosome-associated membrane protein type 2a (LAMP-2A) reveals key features for substrate specificity in chaperone-mediated autophagy.

PubMed ID: 25342746

DOI: 10.1074/jbc.m114.609446

PubMed ID: 15673802

Title: Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

PubMed ID: 15673802

DOI: 10.1056/nejmoa033349

PubMed ID: 15907287

Title: Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.

PubMed ID: 15907287

DOI: 10.1016/j.nmd.2005.02.008

Sequence Information:

  • Length: 410
  • Mass: 44961
  • Checksum: 9E08E3B62D58F454
  • Sequence:
  • MVCFRLFPVP GSGLVLVCLV LGAVRSYALE LNLTDSENAT CLYAKWQMNF TVRYETTNKT 
    YKTVTISDHG TVTYNGSICG DDQNGPKIAV QFGPGFSWIA NFTKAASTYS IDSVSFSYNT 
    GDNTTFPDAE DKGILTVDEL LAIRIPLNDL FRCNSLSTLE KNDVVQHYWD VLVQAFVQNG 
    TVSTNEFLCD KDKTSTVAPT IHTTVPSPTT TPTPKEKPEA GTYSVNNGND TCLLATMGLQ 
    LNITQDKVAS VININPNTTH STGSCRSHTA LLRLNSSTIK YLDFVFAVKN ENRFYLKEVN 
    ISMYLVNGSV FSIANNNLSY WDAPLGSSYM CNKEQTVSVS GAFQINTFDL RVQPFNVTQG 
    KYSTAQDCSA DDDNFLVPIA VGAALAGVLI LVLLAYFIGL KHHHAGYEQF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.