LAT2 linker for activation of T cells family member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAT2provided by HGNC
Official Full Name: linker for activation of T cells family member 2provided by HGNC
Primary source: HGNC:HGNC:12749
See related: Ensembl:ENSG00000086730 MIM:605719; AllianceGenome:HGNC:12749
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LAB; NTAL; WSCR5; WBSCR5; HSPC046; WBSCR15
Summary: 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]
Annotation information: Note: LAT2 (Gene ID: 7462) and SLC7A8 (Gene ID: 23428) share the LAT2 symbol/alias in common. LAT2 is sometimes used as an alternative name for solute carrier family 7 member 8 (SLC7A8), which can be confused with the official symbol for linker for activation of T cells family member 2 (LAT2). [05 Jul 2018]
Expression: Broad expression in lymph node (RPKM 22.9), appendix (RPKM 20.3) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (74210006..74229834)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (75412292..75432128)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (73624336..73644164)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NTAL is associated with treatment outcome, cell proliferation and differentiation in acute promyelocytic leukemia.
Title: NTAL is associated with treatment outcome, cell proliferation and differentiation in acute promyelocytic leukemia.
The lipid raft protein NTAL participates in AKT signaling in mantle cell lymphoma.
Title: The lipid raft protein NTAL participates in AKT signaling in mantle cell lymphoma.
Its overexpression represents a negative prognostic marker that has been linked to tumor grade, proliferating potential and angiogenesis and mediates intracellular transport of anticancer agents.
Title: Expression of large neutral amino acid transporters LAT1 and LAT2 in medulloblastoma.
The AML1/ETO target gene LAT2 interferes with differentiation of normal hematopoietic precursor cells.
Title: The AML1/ETO target gene LAT2 interferes with differentiation of normal hematopoietic precursor cells.
LAT2 is an early mediator of the anti-leukemic activity of alkylphospholipids and arsenic trioxide. Thus, LAT2 may be used as a target for the design of drugs for cancer therapy.
Title: Linker for activation of T-cell family member2 (LAT2) a lipid raft adaptor protein for AKT signaling, is an early mediator of alkylphospholipid anti-leukemic activity.
NTAL acts as a tumor suppressor that enhances the proximal signaling of leukemic blasts. The key downstream molecule responsible for the biological effect of TCR signaling is ERK.
Title: The adaptor protein NTAL enhances proximal signaling and potentiates corticosteroid-induced apoptosis in T-ALL.
LAB has the ability to modulate signaling in virtually every type of leukocyte.
Title: LAB/NTAL/Lat2: a force to be reckoned with in all leukocytes?
LAT2 protein (NTAL) participates in the activation of the c-Met-Grb2-ERK-cPLA2 signalling cascade at early stages of H. pylori infection.
Title: Non-T cell activation linker regulates ERK activation in Helicobacter pylori-infected epithelial cells.
expression separates T lineage leukemias into two subgroups with good and poor prognostic outcome to prednisone therapy in acute lymphoblastic leukemia in children
Title: Adaptor molecules expression in normal lymphopoiesis and in childhood leukemia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr upregulates the gene expression of LAT2 in human monocyte-derived dendritic cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2101E (e-PCR)
- UniSTS:12575

SGC32507 (e-PCR)
- UniSTS:9253

D8S2279 (e-PCR)
- UniSTS:473907

D16S325 (e-PCR)
- UniSTS:147089

D7S2789 (e-PCR)
- UniSTS:66471

SHGC-56095 (e-PCR)
- UniSTS:17592

HSC10F112 (e-PCR)
- UniSTS:79556

WBSCR5_8726 (e-PCR)
- UniSTS:468170

D7S3269 (e-PCR)
- UniSTS:254168

Homology

Homologs of the LAT2 gene: The LAT2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Orthologs from Annotation Pipeline: 271 organisms have orthologs with human gene LAT2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH2 domain binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables SH2 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell activation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in B cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in B cell activation	TAS Traceable Author Statement more info	PubMed
involved_in B cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in B cell receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in calcium-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in calcium-mediated signaling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mast cell degranulation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in integral component of membrane	IEA Inferred from Electronic Annotation more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: linker for activation of T-cells family member 2

Names: Williams-Beuren syndrome chromosomal region 15 protein; Williams-Beuren syndrome chromosomal region 5 protein; linker for activation of B-cells; linker for activation of T cells, transmembrane adaptor 2; membrane-associated adapter molecule; non-T-cell activation linker

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023256.1 RefSeqGene

Range

5250..25078

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014146.4 → NP_054865.2 linker for activation of T-cells family member 2 precursor

See identical proteins and their annotated locations for NP_054865.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.

Source sequence(s)

AF252613, AI492348, BM468969

Consensus CDS

CCDS5566.2

UniProtKB/Swiss-Prot

Q9GZY6, Q9NZY9

Related

ENSP00000344881.5, ENST00000344995.9

Conserved Domains (1) summary

pfam15703
Location:28 → 238

LAT2; Linker for activation of T-cells family member 2
NM_032463.3 → NP_115852.1 linker for activation of T-cells family member 2 precursor

See identical proteins and their annotated locations for NP_115852.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.

Source sequence(s)

AF252614, AI492348, BM468969

Consensus CDS

CCDS5566.2

UniProtKB/Swiss-Prot

Q9GZY6, Q9NZY9

Related

ENSP00000275635.7, ENST00000275635.11

Conserved Domains (1) summary

pfam15703
Location:28 → 238

LAT2; Linker for activation of T-cells family member 2
NM_032464.3 → NP_115853.2 linker for activation of T-cells family member 2 precursor

See identical proteins and their annotated locations for NP_115853.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.

Source sequence(s)

AI492348, BC001609, BM468969

Consensus CDS

CCDS5566.2

UniProtKB/Swiss-Prot

Q9GZY6, Q9NZY9

Related

ENSP00000420494.1, ENST00000460943.6

Conserved Domains (1) summary

pfam15703
Location:28 → 238

LAT2; Linker for activation of T-cells family member 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

74210006..74229834

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420801.1 → XP_047276757.1 linker for activation of T-cells family member 2 isoform X1
XM_011516558.2 → XP_011514860.1 linker for activation of T-cells family member 2 isoform X2

See identical proteins and their annotated locations for XP_011514860.1

UniProtKB/Swiss-Prot

Q9GZY6, Q9NZY9

Conserved Domains (1) summary

pfam15703
Location:28 → 238

LAT2; Linker for activation of T-cells family member 2