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Aliases & Descriptions for LAT2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases HSPC046 1 , 2 LAB 1 , 2 , 3 , 5 NTAL 1 , 2 , 3 , 5 OTTHUMP00000160648 2 OTTHUMP00000179118 2 OTTHUMP00000179119 2 WBS15 3 WBSCR15 2 , 3 WBSCR5 2 , 3 , 5 WSCR5 1 , 2
Descriptions Linker for activation of B-cells 3 Membrane-associated adapter molecule 3 Non-T-cell activation linker 3 Williams-Beuren syndrome chromosomal region 15 protein 3 Williams-Beuren syndrome chromosome region 15 2 Williams-Beuren syndrome chromosome region 5 1 , 2 linker for activation of B cells 2 linker for activation of T cells family member 2 2 linker for activation of T cells family, member 2 2 non-T cell activation linker 2
Search outside databases for aliases for LAT2 genePrevious GC identifer: GC07P073069
Summaries for LAT2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for LAT2 : This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, amultisystem developmental disorder. This gene consists of at least 14 exons, and its alternativesplicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq] UniProtKB/Swiss-Prot: NTAL_HUMAN, Q9GZY6 Function : Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling inmast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cellsand FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells.Couples activation of these receptors and their associated kinases with distal intracellularevents through the recruitment of GRB2
Gene Wiki entry for LAT2
Genomic Location for LAT2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the LAT2 gene Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.23 LAT2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure
GeneLoc location for GC07P073262:
(about GC identifiers )
Start:
73,261,662 bp from pter
End:
73,282,100 bp from pter
Size:
20,439 bases
Orientation:
plus strand
1 alternative location : Chr 7+,CRA_TCAG 72,957,159-72,977,236
RefSeq DNA sequence: NC_000007.12 NT_007758.11 NT_079593.2 Proteins for LAT2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: NTAL_HUMAN, Q9GZY6 (See
protein sequence )Recommended Name: Linker for activation of T-cells family member 2 Size : 243 amino acids; 26550 Da
Subunit : When phosphorylated, interacts with GRB2. May also interact with SOS1, GAB1 and CBL
Subcellular location : Cell membrane; Single-pass type III membrane protein. Note=Present in lipidrafts
Sequence caution : Sequence=AAF29018.1; Type=Frameshift; Positions=82, 85, 129, 221;
Secondary accessions : A6NFK6 A8K4F1 Q9BXX8 Q9NZY9Alternative splicing : 2 isoforms : Q9GZY6-1 Q9GZY6-2
Post-translational modifications:
Phosphorylated on tyrosines following cross-linking of BCR in B-cells, FCGR1 in myeloid cells, orFCER1 in mast cells; which induces the recruitment of GRB21
May be polyubiquitinated1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_054865.2 NP_115852.1 NP_115853.2 ENSEMBL proteins: ENSP00000275635 ENSP00000381496 ENSP00000381492 ENSP00000354374 ENSP00000344881 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for LAT2: Assays for LAT2:
Protein
Domains/ Families for LAT2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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ProtoNet protein and cluster: Q9GZY6
Gene Function for LAT2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_014146 Applied Biosystems Silencer ® siRNAs for LAT2 Sigma-Aldrich siRNA for LAT2 Sigma-Aldrich shRNA Panels and shRNA for LAT2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_014146                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_014146                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_014146  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_032464 UniProtKB/Swiss-Prot: NTAL_HUMAN, Q9GZY6 Function : Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling inmast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cellsand FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells.Couples activation of these receptors and their associated kinases with distal intracellularevents through the recruitment of GRB2
2 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Lat2) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for LAT2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for LAT2 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for LAT2 5/10 Interacting proteins for LAT2 (ENSP00000344881 3 Q9GZY6 2 ) via UniProtKB, MINT, and/or STRING (see all 10
)About this table 5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
):
About this table
Drugs & Compounds for LAT2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for LAT2
Transcripts for LAT2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_014146 Sigma-Aldrich siRNA for LAT2 Sigma-Aldrich shRNA Panels and shRNA for LAT2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_014146 NM_032463 NM_032464
REFSEQ mRNAs for LAT2 gene (3 alternative transcripts): NM_014146.3 NM_032463.2 NM_032464.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_014146 NM_032463 NM_032464
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_014146                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_014146                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_014146  
Additional cDNA sequence: AF086239.1 AF161531.1 AF252611.1 AF252613.1 AF252614.1 AF257135.1 AK002099.1 AK092904.1 AK225150.1 AK290074.1 AK290916.1 AY190023.1 BC001609.1 BC009204.2 CR617481.1 CR619242.1 CR624255.1
8 DOTS entries : DT.444875 DT.95139879 DT.100799809 DT.100799806 DT.95139884 DT.100799807 DT.101969830 DT.121122707
24/179 AceView cDNA sequences (see all 179
):BQ052222 CD742836 CR617481 AF252613 NM_032463 CA308244 AF252611 AW594734 AW237047 BG685950 BG746790 AK092904 BC009204 BQ015840 AY190023 Z39117 NM_022040 BQ001798 BX105444 AI826124 BC001609 AI341517 BQ054060 AI589912
highest scoring ESTs for LAT2 :AI521311 AW007058 AA361096 AA593214 AA594614 AA604586 AA633095 AA648496 AA731435 AA765412
Unigene Cluster for LAT2: Linker for activation of T cells family, member 2 Hs.647049 [show with all ESTs ] Unigene Representative Sequence: AK092904 GeneLoc Exon Structure 5 Ensembl transcripts including schematic representations : ENST00000275635
ENST00000398479
ENST00000398475
ENST00000361082
ENST00000344995
Expression for LAT2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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LAT2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for LAT2 1 / 2 / 3
6 probe-sets matching LAT2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GGAAGAGCTGSOURCE GeneReport for Unigene cluster: Hs.647049 UniProtKB/Swiss-Prot: NTAL_HUMAN, Q9GZY6 Tissue specificity : Highly expressed in spleen, peripheral blood lymphocytes, and germinal centersof lymph nodes. Also expressed in placenta, lung, pancreas and small intestine. Present inB-cells, NK cells and monocytes. Absent from T-cells (at protein level)
Orthologs for LAT2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for LAT2 gene from 4 species
About this table Species with no ortholog for LAT2 ENSEMBL Gene Tree for LAT2 Paralogs for LAT2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for LAT2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for LAT2 (up to first 250kb)
Disorders & Mutations for LAT2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 605719 UniProtKB/Swiss-Prot: NTAL_HUMAN, Q9GZY6
Defects in LAT2 may be a cause of certain cardiovascular and musculo-skeletalabnormalities observed in Williams-Beuren syndrome (WBS) [MIM:194050]. WBS is a rare developmentaldisorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23
Human Genome Epidemiology Navigator: LAT2 (2 documents)
Medical News for LAT2 (Possibly Related Articles in
Doctor's Guide )
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Publications for LAT2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/25 PubMed articles for LAT2 gene (see all 25
): LAB: a new membrane-associated adaptor molecule in B cell activation. (PubMed id 12514734) 2, 3, 4 Janssen E....Zhang W. (2003) Transmembrane adaptor molecules: a new category of lymphoid-cell markers. (PubMed id 16160011) 3, 4 Tedoldi S....Horejsi V. (2006) NTAL phosphorylation is a pivotal link between the signaling cascades leading to human mast cell degranulation following Kit activation and Fc epsilon RI aggregation. (PubMed id 15010370) 3, 4 Tkaczyk C.... Gilfillan A.M. (2004) The importance of three membrane-distal tyrosines in the adaptor protein NTAL/LAB. (PubMed id 14722116) 3, 4 Koonpaew S.... Zhang W. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) The DNA sequence of human chromosome 7. (PubMed id 12853948) 3, 4 Hillier L.W.... Wilson R.K. (2003) Non-T cell activation linker (NTAL): a transmembrane adaptor protein involved in immunoreceptor signaling. (PubMed id 12486104) 3, 4 Brdicka T.... Horejsi V. (2002) Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome. (PubMed id 11124535) 3, 4 Doyle J.L.... Green E.D. (2000) Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152) 3, 4 Zhang Q.H....Chen Z. (2000)
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Genome Databases showing LAT2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing LAT2
(According to HUGE )
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Specialized Databases showing LAT2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for LAT2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for LAT2:
Antibodies & Assays for LAT2   (NTAL/LAB)
Recombinant Proteins (NTAL ) Antibodies (NTAL )
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