Human Gene LAMP2 (uc011mtz.2)
Description: Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.
RefSeq Summary (NM_001122606): The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
Position: hg19 chrX:119,560,003-119,603,204 Size: 43,202 Total Exon Count: 7 Strand: -
Coding Region
Position: hg19 chrX:119,562,339-119,603,024 Size: 40,686 Coding Exon Count: 7
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): LAMP2
CDC HuGE Published Literature: LAMP2
MalaCards Disease Associations
MalaCards Gene Search: LAMP2
Diseases sorted by gene-association score: danon disease * (1711), cardiomyopathy * (150), atrial standstill, digenic * (126), glycogen storage disease ii (18), lysosomal acid phosphatase deficiency (14), salla disease (12), myopathy, x-linked, with excessive autophagy (12), fabry disease (9), cholesterol ester storage disease (6), myopathy (5), dilated cardiomyopathy (2), cardiomyopathy, familial hypertrophic (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
C044387
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine
C006780
bisphenol A
C049325
1,2-dithiol-3-thione
C031903
1-UFT protocol
C111118
2',3,3',4',5-pentachloro-4-hydroxybiphenyl
C009505
4,4'-diaminodiphenylmethane
D015123
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
D000082
Acetaminophen
D016604
Aflatoxin B1
D000643
Ammonium Chloride
more ... click here to view the complete list
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR002000 - Lysosome-assoc_membr_glycop
Pfam Domains: PF01299 - Lysosome-associated membrane glycoprotein (Lamp)
ModBase Predicted Comparative 3D Structure on B7Z2R9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
BC040653 - Homo sapiens cDNA clone IMAGE:4797120.LF385316 - JP 2014500723-A/192819: Polycomb-Associated Non-Coding RNAs.AK226066 - Homo sapiens mRNA for lysosomal-associated membrane protein 2 precursor variant, clone: fj10535.AK295038 - Homo sapiens cDNA FLJ52540 complete cds, highly similar to Lysosome-associated membrane glycoprotein 2 precursor.AY561849 - Homo sapiens lysosomal-associated membrane protein 2C (LAMP2) mRNA, complete cds.AB528277 - Synthetic construct DNA, clone: pF1KB9376, Homo sapiens LAMP2 gene for lysosomal-associated membrane protein 2, without stop codon, in Flexi system.LF379868 - JP 2014500723-A/187371: Polycomb-Associated Non-Coding RNAs.X77196 - H.sapiens mRNA for lysosome-associated membrane protein-2.AK291090 - Homo sapiens cDNA FLJ77117 complete cds, highly similar to Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant LAMP2A, mRNA.J04183 - Homo sapiens lysosomal membrane glycoprotein-2 (LAMP2), complete cds.S79873 - h-lamp-2=lysosome-associated membrane protein-2 {alternatively spliced} [human, liver, mRNA, 4006 nt].U36336 - Human lysosome-associated membrane protein-2b (LAMP2) mRNA, alternatively spliced form h-lamp-2b, complete cds.BC002965 - Homo sapiens lysosomal-associated membrane protein 2, mRNA (cDNA clone MGC:1710 IMAGE:3543019), complete cds.AK293931 - Homo sapiens cDNA FLJ52535 complete cds, highly similar to Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant LAMP2B, mRNA.AK304405 - Homo sapiens cDNA FLJ58780 complete cds, highly similar to Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant LAMP2B, mRNA.KJ897118 - Synthetic construct Homo sapiens clone ccsbBroadEn_06512 LAMP2 gene, encodes complete protein.KR709861 - Synthetic construct Homo sapiens clone CCSBHm_00006896 LAMP2 (LAMP2) mRNA, encodes complete protein.KR709862 - Synthetic construct Homo sapiens clone CCSBHm_00006897 LAMP2 (LAMP2) mRNA, encodes complete protein.DQ892095 - Synthetic construct clone IMAGE:100004725; FLH186841.01X; RZPDo839B0172D lysosomal-associated membrane protein 2 (LAMP2) gene, encodes complete protein.DQ895288 - Synthetic construct Homo sapiens clone IMAGE:100009748; FLH186837.01L; RZPDo839B0162D lysosomal-associated membrane protein 2 (LAMP2) gene, encodes complete protein.LF379882 - JP 2014500723-A/187385: Polycomb-Associated Non-Coding RNAs.LF379883 - JP 2014500723-A/187386: Polycomb-Associated Non-Coding RNAs.LF379887 - JP 2014500723-A/187390: Polycomb-Associated Non-Coding RNAs.LF379888 - JP 2014500723-A/187391: Polycomb-Associated Non-Coding RNAs.CU678318 - Synthetic construct Homo sapiens gateway clone IMAGE:100019273 5' read LAMP2 mRNA.LF379889 - JP 2014500723-A/187392: Polycomb-Associated Non-Coding RNAs.LF211457 - JP 2014500723-A/18960: Polycomb-Associated Non-Coding RNAs.JD071608 - Sequence 52632 from Patent EP1572962.MA620893 - JP 2018138019-A/192819: Polycomb-Associated Non-Coding RNAs.MA615445 - JP 2018138019-A/187371: Polycomb-Associated Non-Coding RNAs.MA615459 - JP 2018138019-A/187385: Polycomb-Associated Non-Coding RNAs.MA615460 - JP 2018138019-A/187386: Polycomb-Associated Non-Coding RNAs.MA615464 - JP 2018138019-A/187390: Polycomb-Associated Non-Coding RNAs.MA615465 - JP 2018138019-A/187391: Polycomb-Associated Non-Coding RNAs.MA615466 - JP 2018138019-A/187392: Polycomb-Associated Non-Coding RNAs.MA447034 - JP 2018138019-A/18960: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04142 - Lysosome
Other Names for This Gene
Alternate Gene Symbols: AK295038, B7Z2R9, B7Z2R9_HUMAN, NM_001122606, NP_001116078UCSC ID: uc011mtz.2RefSeq Accession: NM_001122606
Protein: B7Z2R9
GeneReviews for This Gene
GeneReviews article(s) related to gene LAMP2:danon (Danon Disease)
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
AK295038.1
exon count:
7 CDS single in 3' UTR:
no
RNA size:
1433
ORF size:
903 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
1971.50 frame shift in genome:
no
% Coverage:
99.93
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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