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This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008] See more...
Aliases for LAT2 Gene
Aliases for LAT2 Gene
- Linker For Activation Of T Cells Family Member 2 2 3 5
- Linker For Activation Of T-Cells Family Member 2 2 3 4
- Linker For Activation Of T Cells, Transmembrane Adaptor 2 2 3
- Williams-Beuren Syndrome Chromosomal Region 15 Protein 3 4
- Williams-Beuren Syndrome Chromosomal Region 5 Protein 3 4
- Membrane-Associated Adapter Molecule 3 4
- Linker For Activation Of B-Cells 3 4
- Non-T-Cell Activation Linker 3 4
- WBSCR15 3 4
External Ids for LAT2 Gene
- HGNC: 12749
- Entrez Gene: 7462
- Ensembl: ENSG00000086730
- OMIM: 605719
- UniProtKB: Q9GZY6
Previous HGNC Symbols for LAT2 Gene
- WBSCR15
- WBSCR5
Previous GeneCards Identifiers for LAT2 Gene
- GC07P073069
- GC07P073262
- GC07P073613
- GC07P069505
Summaries for LAT2 Gene
-
This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]
GeneCards Summary for LAT2 Gene
LAT2 (Linker For Activation Of T Cells Family Member 2) is a Protein Coding gene. Diseases associated with LAT2 include Williams-Beuren Syndrome. Among its related pathways are B cell receptor signaling pathway (KEGG) and Innate Immune System. Gene Ontology (GO) annotations related to this gene include SH2 domain binding.
UniProtKB/Swiss-Prot Summary for LAT2 Gene
-
Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2.
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAT2 Gene
Genomics for LAT2 Gene
GeneHancer (GH) Regulatory Elements for LAT2 Gene
Promoters and enhancers for LAT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around LAT2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the LAT2 gene promoter:
-
- AhR
- c-Myc
- Max1
- STAT5A
Genomic Locations for LAT2 Gene
Genomic Locations for LAT2 Gene
- chr7:74,199,652-74,229,834
- (GRCh38/hg38)
- Size:
- 30,183 bases
- Orientation:
- Plus strand
- chr7:73,613,982-73,644,164
- (GRCh37/hg19)
- Size:
- 30,183 bases
- Orientation:
- Plus strand
Genomic View for LAT2 Gene
Genes around LAT2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q11.23 by HGNC
- 7q11.23 by Entrez Gene
- 7q11.23 by Ensembl
LAT2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for LAT2 Gene
Proteins for LAT2 Gene
-
Protein details for LAT2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9GZY6-NTAL_HUMAN
- Recommended name:
- Linker for activation of T-cells family member 2
- Protein Accession:
- Q9GZY6
- A6NFK6
- A8K209
- A8K4F1
- D3DXF9
- Q9BXX8
- Q9NZY9
Protein attributes for LAT2 Gene
- Size:
- 243 amino acids
- Molecular mass:
- 26550 Da
- Quaternary structure:
-
- When phosphorylated, interacts with GRB2. May also interact with SOS1, GAB1 and CBL.
- SequenceCaution:
-
- Sequence=AAF29018.1; Type=Frameshift; Positions=82, 86, 130, 221; Evidence={ECO:0000305};
Protein Expression for LAT2 Gene
Post-translational modifications for LAT2 Gene
- Phosphorylated on tyrosines following cross-linking of BCR in B-cells, FCGR1 in myeloid cells, or FCER1 in mast cells; which induces the recruitment of GRB2.
- May be polyubiquitinated.
-
Ubiquitination at Lys77 and Lys79
- NX_Q9GZY6 (NX_Q9GZY6-1)
- Modification sites at PhosphoSitePlus
Other Protein References for LAT2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ LAB Antibody
- Atlas Antibodies Anti-LAT2 Antibody
-
Creative Biolabs
- Mouse Anti-LAT2 Recombinant Antibody (CBWJN-1119)
- Mouse Anti-LAT2 Recombinant Antibody (CBWJN-0468)
- Mouse Anti-LAT2 Recombinant Antibody (NAP-07)-IgG2a
- Mouse Anti-LAT2 Recombinant Antibody (CBWJN-0918)
- Mouse Anti-LAT2 Recombinant Antibody (NAP-03)-IgG1
- Mouse Anti-LAT2 Recombinant Antibody (CBWJN-0917)
- Rabbit Anti-LAT2 Recombinant Antibody (CBWJN-0185)
- Recombinant Mouse Anti-Human LAT2 Antibody (clone OBQ-08)
-
BioLegend
- NTAL Antibody
- NTAL (LAT2) Antibody (368003)
- NTAL (LAT2) Antibody (368004)
- NTAL (LAT2) Antibody (699002)
- NTAL (LAT2) Antibody (699001)
- NTAL (LAT2) Antibody (699004)
- NTAL (LAT2) Antibody (699003)
- NTAL (LAT2) Antibody (699005)
- NTAL (LAT2) Antibody (699006)
- NTAL (LAT2) Antibody (699008)
- NTAL (LAT2) Antibody (699007)
-
Custom Antibody ServicesOriGene Antibodies for LAT2
- Novus Biologicals Antibodies for LAT2
-
Abcam antibodies for LAT2
- Invitrogen Antibodies for LAT2 (AFLGC-LAT2)
-
Biorbyt antibodies for LAT2
-
Boster Bio Antibodies for LAT2
-
Custom Antibody ServicesProSci Antibodies for LAT2
-
Santa Cruz Biotechnology (SCBT) Antibodies for LAT2
Protein Products
- G Biosciences Human NTAL/LAT2, Lyophilized
- Atlas Antibodies PrEST Antigen LAT2
- Search Origene for MassSpec and Protein Over-expression Lysates for LAT2
- Origene Custom Protein Services for LAT2
- ProSpec Recombinant Proteins for LAT2
-
ProSci Proteins for LAT2
-
Abcam proteins for LAT2
Assay Products
- RayBiotech Custom Human NTAL ELISA
- antibodies-online: Show 2 available LAT2 Elisa Kits ranked by validation data
- Compare Top LAT2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for LAT2 Gene
Domains & Families for LAT2 Gene
Gene Families for LAT2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted secreted proteins
Suggested Antigen Peptide Sequences for LAT2 Gene
- GenScript: Design optimal peptide antigens:
-
- Williams-Beuren syndrome chromosomal region 5 protein (NTAL_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LAT2 Gene
Function for LAT2 Gene
Molecular function for LAT2 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2.
Phenotypes From GWAS Catalog for LAT2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 14722116 |
| GO:0042169 | SH2 domain binding | IPI | 20442417 |
Phenotypes for LAT2 Gene
- MGI mutant phenotypes for LAT2:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for LAT2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for LAT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LAT2
- genomics-online: gRNA clones - Search for available LAT2 gRNA products
- Overview of 144 available LAT2 gene related products
- Applied Biological Materials (abm): CRISPR Clones for LAT2 - Select products 50% OFF >
- * LAT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * LAT2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for LAT2
miRNA for LAT2 Gene
- miRTarBase miRNAs that target LAT2
-
- hsa-mir-155-5p (MIRT005092)
- hsa-mir-4648 (MIRT644183)
- hsa-mir-4697-3p (MIRT644184)
- hsa-mir-365b-5p (MIRT644185)
- hsa-mir-365a-5p (MIRT644186)
- hsa-mir-8052 (MIRT644187)
- hsa-mir-3199 (MIRT644188)
- hsa-mir-150-5p (MIRT644189)
- hsa-mir-6814-5p (MIRT644190)
- hsa-mir-3691-3p (MIRT644191)
- hsa-mir-194-3p (MIRT644192)
- hsa-mir-5693 (MIRT644193)
- hsa-mir-6857-5p (MIRT644194)
- hsa-mir-3682-5p (MIRT644195)
- hsa-mir-4450 (MIRT644196)
- hsa-mir-8089 (MIRT644197)
- hsa-mir-4700-5p (MIRT644198)
- hsa-mir-4667-5p (MIRT644199)
- hsa-mir-660-3p (MIRT644200)
- hsa-mir-5193 (MIRT644201)
- hsa-mir-6756-3p (MIRT644202)
- hsa-mir-3127-3p (MIRT644203)
- hsa-mir-1273e (MIRT761843)
- hsa-mir-1273f (MIRT761895)
- hsa-mir-3689d (MIRT767074)
- hsa-mir-377-5p (MIRT767417)
- hsa-mir-4252 (MIRT768009)
- hsa-mir-4459 (MIRT769292)
- hsa-mir-4537 (MIRT770167)
- hsa-mir-455-3p (MIRT770350)
- hsa-mir-566 (MIRT774933)
- hsa-mir-6086 (MIRT775548)
- hsa-mir-6134 (MIRT775948)
- hsa-mir-6499-3p (MIRT776290)
- hsa-mir-6516-5p (MIRT777147)
- hsa-mir-652-3p (MIRT777270)
- hsa-mir-665 (MIRT777570)
- hsa-mir-6789-3p (MIRT779273)
- hsa-mir-6840-3p (MIRT780144)
- hsa-mir-6851-5p (MIRT780412)
- hsa-mir-6880-5p (MIRT780835)
- hsa-mir-7847-3p (MIRT782151)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for LAT2
- Browse OriGene Inhibitory RNA Products For LAT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAT2
- genomics-online: shRNA clones - Search for available LAT2 shRNA products
- Overview of 144 available LAT2 gene related products
Clone Products
-
- MG201826
- MG227247
- MR201826
- MR201826L3
- MR201826L3V
- MR201826L4
- MR201826L4V
- MR227247
- MR227247L3
- MR227247L3V
- MR227247L4
- MR227247L4V
- RC200102
- RC200102L3
- RC200102L3V
- RC200102L4
- RC200102L4V
- RC203516
- RC203516L3
- RC203516L3V
- RC203516L4
- RC203516L4V
- RC222806
- RC222806L3
- RC222806L3V
- RC222806L4
- RC222806L4V
- RG200102
- RG203516
- RG222806
- RR208582
- RR208582L3
- RR208582L3V
- RR208582L4
- RR208582L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LAT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LAT2
- genomics-online: cdna clones - Search for available LAT2 CDNA products
- Overview of 144 available LAT2 gene related products
- orf clones - Search for available LAT2 ORF products
- Overview of 144 available LAT2 gene related products
- Applied Biological Materials (abm): Clones for LAT2 - Select products 50% OFF >
- * LAT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * LAT2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for LAT2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LAT2 Gene
Localization for LAT2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for LAT2 Gene
- Cell membrane; Single-pass type III membrane protein. Note=Present in lipid rafts.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| extracellular | 3 |
| lysosome | 2 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0042629 | mast cell granule | IEA | -- |
| GO:0045121 | membrane raft | IDA | 12486104 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for LAT2 Gene
Pathways & Interactions for LAT2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | B Cell Receptor Signaling Pathway (sino) | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | NF-kappaB Signaling | ||
| 4 | RET signaling | ||
| 5 | PI3K/AKT activation | ||
Pathways by source for LAT2 Gene
2 Sino Biological pathways for LAT2 Gene
2 BioSystems pathways for LAT2 Gene
4 Reactome pathways for LAT2 Gene
1 Cell Signaling Technology pathway for LAT2 Gene
Interacting Proteins for LAT2 Gene
GPS-Prot Interaction Network for LAT2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002250 | adaptive immune response | IEA | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0002764 | immune response-regulating signaling pathway | IEA | -- |
| GO:0019722 | calcium-mediated signaling | IGI | 14722116 |
| GO:0035556 | intracellular signal transduction | IGI | 14722116 |
No data available for SIGNOR curated interactions for LAT2 Gene
Drugs & Compounds for LAT2 Gene
No Compound Related Data Available
Transcripts for LAT2 Gene
mRNA/cDNA for LAT2 Gene
- (3) REFSEQ mRNAs :
- (18) Additional mRNA sequences :
- (179) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000465116 585 bps (ENST00000465116.5)
- ENST00000344995 2363 bps (ENST00000344995.9)
- ENST00000460943 1942 bps (ENST00000460943.5)
- ENST00000491595 618 bps (ENST00000491595.1)
- ENST00000475494 561 bps (ENST00000475494.5)
CRISPR Products
-
OriGene CRISPR knockouts for LAT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LAT2
- genomics-online: gRNA clones - Search for available LAT2 gRNA products
- Overview of 144 available LAT2 gene related products
- Applied Biological Materials (abm): CRISPR Clones for LAT2 - Select products 50% OFF >
- * LAT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * LAT2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for LAT2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for LAT2
- Browse OriGene Inhibitory RNA Products For LAT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAT2
- genomics-online: shRNA clones - Search for available LAT2 shRNA products
- Overview of 144 available LAT2 gene related products
Clone Products
-
- MG201826
- MG227247
- MR201826
- MR201826L3
- MR201826L3V
- MR201826L4
- MR201826L4V
- MR227247
- MR227247L3
- MR227247L3V
- MR227247L4
- MR227247L4V
- RC200102
- RC200102L3
- RC200102L3V
- RC200102L4
- RC200102L4V
- RC203516
- RC203516L3
- RC203516L3V
- RC203516L4
- RC203516L4V
- RC222806
- RC222806L3
- RC222806L3V
- RC222806L4
- RC222806L4V
- RG200102
- RG203516
- RG222806
- RR208582
- RR208582L3
- RR208582L3V
- RR208582L4
- RR208582L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LAT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LAT2
- genomics-online: cdna clones - Search for available LAT2 CDNA products
- Overview of 144 available LAT2 gene related products
- orf clones - Search for available LAT2 ORF products
- Overview of 144 available LAT2 gene related products
- Applied Biological Materials (abm): Clones for LAT2 - Select products 50% OFF >
- * LAT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * LAT2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for LAT2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for LAT2 Gene
This gene is overexpressed in Whole Blood (x24.9).
This gene is overexpressed in Pancreas (63.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LAT2 Gene
NURSA nuclear receptor signaling pathways regulating expression of LAT2 Gene:
LAT2SOURCE GeneReport for Unigene cluster for LAT2 Gene:
Hs.741249mRNA Expression by UniProt/SwissProt for LAT2 Gene:
Q9GZY6-NTAL_HUMAN
Tissue specificity:
Highly expressed in spleen, peripheral blood lymphocytes, and germinal centers of lymph nodes. Also expressed in placenta, lung, pancreas and small intestine. Present in B-cells, NK cells and monocytes. Absent from T-cells (at protein level).
Evidence on tissue expression from TISSUES for LAT2 Gene
- Nervous system(4.7)
- Blood(4.6)
- Spleen(4.3)
Primer Products
-
OriGene qPCR primer pairs for LAT2
-
OriGene qPCR primer pairs and template standards for LAT2
- genomics-online: primer clones - Search for available LAT2 Primer products
- Overview of 144 available LAT2 gene related products
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LAT2 Gene
Orthologs for LAT2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LAT2 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LAT2 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LAT2 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Lat2 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Lat2 32 |
|
||
| chicken (Gallus gallus) |
Aves | LOC100857708 32 |
|
||
| LAT2 33 33 33 |
|
OneToMany | |||
| -- 33 |
|
OneToMany |
- Species where no ortholog for LAT2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for LAT2 Gene
- ENSEMBL:
- Gene Tree for LAT2 (if available)
- TreeFam:
- Gene Tree for LAT2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for LAT2: view image
Paralogs for LAT2 Gene
No data available for Paralogs for LAT2 Gene
Variants for LAT2 Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000276920 | -- | 74,218,886(+) | G/A | intron_variant | |
| rs1000556086 | -- | 74,212,950(+) | G/A | intron_variant | |
| rs1000607875 | -- | 74,217,585(+) | C/T | intron_variant | |
| rs1000675249 | -- | 74,212,562(+) | C/T | intron_variant | |
| rs1000916879 | -- | 74,229,892(+) | T/C | downstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3613698 | CNV | loss | 21293372 |
| esv3613704 | CNV | loss | 21293372 |
| esv3613705 | CNV | loss | 21293372 |
| nsv1076924 | CNV | deletion | 25765185 |
| nsv464563 | CNV | gain | 19166990 |
| nsv607480 | CNV | gain | 21841781 |
| nsv607481 | CNV | loss | 21841781 |
| nsv824163 | CNV | loss | 20364138 |
| nsv831030 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
52.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.74;
33.01% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for LAT2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- LAT2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAT2 Gene
Disorders for LAT2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| williams-beuren syndrome |
|
|
Search LAT2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NTAL_HUMAN- Note=LAT2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of LAT2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000269 PubMed:11003705, ECO:0000269 PubMed:11124535, ECO:0000269 Ref.5}.
Additional Disease Information for LAT2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for LAT2 Gene
Publications for LAT2 Gene
- LAB: a new membrane-associated adaptor molecule in B cell activation. (PMID: 12514734) Janssen E … Zhang W (Nature immunology 2003) 2 3 4 56
- Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 43 56
- Kit- and Fc epsilonRI-induced differential phosphorylation of the transmembrane adaptor molecule NTAL/LAB/LAT2 allows flexibility in its scaffolding function in mast cells. (PMID: 17993265) Iwaki S … Gilfillan AM (Cellular signalling 2008) 3 23 56
- Transmembrane adaptor molecules: a new category of lymphoid-cell markers. (PMID: 16160011) Tedoldi S … Horejsí V (Blood 2006) 3 4 56
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
ExternalLinks
Products for LAT2 Gene
- Custom Antibody ServicesOriGene Antibodies for LAT2
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for LAT2
- Origene Custom Protein Services for LAT2
- Origene sirna, shrna, and RNAi products in human, mouse, rat for LAT2
- Browse OriGene Inhibitory RNA Products For LAT2
- OriGene qPCR primer pairs for LAT2
- OriGene qPCR primer pairs and template standards for LAT2
- OriGene CRISPR knockouts for LAT2
- MG201826
- MG227247
- MR201826
- MR201826L3
- MR201826L3V
- MR201826L4
- MR201826L4V
- MR227247
- MR227247L3
- MR227247L3V
- MR227247L4
- MR227247L4V
- RC200102
- RC200102L3
- RC200102L3V
- RC200102L4
- RC200102L4V
- RC203516
- RC203516L3
- RC203516L3V
- RC203516L4
- RC203516L4V
- RC222806
- RC222806L3
- RC222806L3V
- RC222806L4
- RC222806L4V
- RG200102
- RG203516
- RG222806
- RR208582
- RR208582L3
- RR208582L3V
- RR208582L4
- RR208582L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For LAT2
- Sino Biological Human cDNA Clone for LAT2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for LAT2
- Novus Biologicals proteins and lysates for LAT2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for LAT2
- Abcam proteins for LAT2
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- antibodies-online: Show 85 available LAT2 Antibodies ranked by validation data
- Compare Top LAT2 Antibodies
- antibodies-online: Show 2 available LAT2 Elisa Kits ranked by validation data
- Compare Top LAT2 Elisa Kits
- Quality Products:
- antibodies-online: Show 22 available LAT2 Proteins ranked by validation data
- Compare Top LAT2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for LAT2
- Search Santa Cruz Biotechnology (SCBT) for LAT2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for LAT2
- Custom Antibody ServicesProSci Antibodies for LAT2
- ProSci Proteins for LAT2
- Horizon Cell Lines for LAT2
- genomics-online: cdna clones - Search for available LAT2 CDNA products
- Overview of 144 available LAT2 gene related products
- orf clones - Search for available LAT2 ORF products
- Overview of 144 available LAT2 gene related products
- genomics-online: gRNA clones - Search for available LAT2 gRNA products
- Overview of 144 available LAT2 gene related products
- genomics-online: primer clones - Search for available LAT2 Primer products
- Overview of 144 available LAT2 gene related products
- genomics-online: shRNA clones - Search for available LAT2 shRNA products
- Overview of 144 available LAT2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LAT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LAT2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for LAT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAT2
- Boster Bio Antibodies for LAT2
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for LAT2
Sources for LAT2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource