Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7462
Gene name	Linker for activation of T cells family member 2
Gene symbol	LAT2
Synonyms (NCBI Gene)	HSPC046LABNTALWBSCR15WBSCR5WSCR5
Chromosome	7
Chromosome location	7q11.23
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 p

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005092	hsa-miR-155-5p	Microarray	19193853
MIRT644203	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT644202	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT644201	hsa-miR-5193	HITS-CLIP	23824327
MIRT644200	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT644199	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT644198	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT644197	hsa-miR-8089	HITS-CLIP	23824327
MIRT644196	hsa-miR-4450	HITS-CLIP	23824327
MIRT644195	hsa-miR-3682-5p	HITS-CLIP	23824327
MIRT644194	hsa-miR-6857-5p	HITS-CLIP	23824327
MIRT644193	hsa-miR-5693	HITS-CLIP	23824327
MIRT644192	hsa-miR-194-3p	HITS-CLIP	23824327
MIRT644191	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT644190	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT644189	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT644188	hsa-miR-3199	HITS-CLIP	23824327
MIRT644187	hsa-miR-8052	HITS-CLIP	23824327
MIRT644186	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT644185	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT644184	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT644183	hsa-miR-4648	HITS-CLIP	23824327
MIRT005092	hsa-miR-155-5p	RNA-seq	33235280
MIRT644203	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT644202	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT644201	hsa-miR-5193	HITS-CLIP	23824327
MIRT644200	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT644199	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT644198	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT644197	hsa-miR-8089	HITS-CLIP	23824327
MIRT644196	hsa-miR-4450	HITS-CLIP	23824327
MIRT644195	hsa-miR-3682-5p	HITS-CLIP	23824327
MIRT644194	hsa-miR-6857-5p	HITS-CLIP	23824327
MIRT644193	hsa-miR-5693	HITS-CLIP	23824327
MIRT644192	hsa-miR-194-3p	HITS-CLIP	23824327
MIRT644191	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT644190	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT644189	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT644188	hsa-miR-3199	HITS-CLIP	23824327
MIRT644187	hsa-miR-8052	HITS-CLIP	23824327
MIRT644186	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT644185	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT644184	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT644183	hsa-miR-4648	HITS-CLIP	23824327
MIRT1105105	hsa-miR-1207-5p	CLIP-seq
MIRT1105106	hsa-miR-1262	CLIP-seq
MIRT1105107	hsa-miR-1909	CLIP-seq
MIRT1105108	hsa-miR-21	CLIP-seq
MIRT1105109	hsa-miR-2277-3p	CLIP-seq
MIRT1105110	hsa-miR-3652	CLIP-seq
MIRT1105111	hsa-miR-3664-5p	CLIP-seq
MIRT1105112	hsa-miR-3667-3p	CLIP-seq
MIRT1105113	hsa-miR-409-5p	CLIP-seq
MIRT1105114	hsa-miR-4279	CLIP-seq
MIRT1105115	hsa-miR-4430	CLIP-seq
MIRT1105116	hsa-miR-4505	CLIP-seq
MIRT1105117	hsa-miR-4515	CLIP-seq
MIRT1105118	hsa-miR-4652-5p	CLIP-seq
MIRT1105119	hsa-miR-4701-3p	CLIP-seq
MIRT1105120	hsa-miR-4714-5p	CLIP-seq
MIRT1105121	hsa-miR-4736	CLIP-seq
MIRT1105122	hsa-miR-4763-3p	CLIP-seq
MIRT1105123	hsa-miR-4766-5p	CLIP-seq
MIRT1105124	hsa-miR-542-3p	CLIP-seq
MIRT1105125	hsa-miR-548n	CLIP-seq
MIRT1105126	hsa-miR-548t	CLIP-seq
MIRT1105127	hsa-miR-590-5p	CLIP-seq
MIRT1105113	hsa-miR-409-5p	CLIP-seq
MIRT2452867	hsa-miR-296-5p	CLIP-seq
MIRT2452868	hsa-miR-3918	CLIP-seq
MIRT2452869	hsa-miR-4271	CLIP-seq
MIRT2452870	hsa-miR-4685-5p	CLIP-seq
MIRT2452871	hsa-miR-4725-3p	CLIP-seq
MIRT2452872	hsa-miR-4758-3p	CLIP-seq
MIRT2465548	hsa-miR-216b	CLIP-seq
MIRT1105111	hsa-miR-3664-5p	CLIP-seq
MIRT2465549	hsa-miR-3675-3p	CLIP-seq
MIRT2465550	hsa-miR-4684-5p	CLIP-seq
MIRT1105120	hsa-miR-4714-5p	CLIP-seq
MIRT1105123	hsa-miR-4766-5p	CLIP-seq
MIRT2560260	hsa-miR-3152-5p	CLIP-seq
MIRT2560261	hsa-miR-4312	CLIP-seq
MIRT2560262	hsa-miR-4448	CLIP-seq
MIRT2560263	hsa-miR-4659a-3p	CLIP-seq
MIRT2560264	hsa-miR-4659b-3p	CLIP-seq
MIRT2560265	hsa-miR-4774-3p	CLIP-seq
MIRT2560266	hsa-miR-4778-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002764	Process	Immune response-regulating signaling pathway	IEA
GO:0005515	Function	Protein binding	IPI	14722116
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0019722	Process	Calcium-mediated signaling	IBA
GO:0019722	Process	Calcium-mediated signaling	IGI	14722116
GO:0035556	Process	Intracellular signal transduction	IGI	14722116
GO:0042113	Process	B cell activation	IBA
GO:0042113	Process	B cell activation	IDA	12514734
GO:0042113	Process	B cell activation	IEA
GO:0042113	Process	B cell activation	TAS	14722116
GO:0042169	Function	SH2 domain binding	IMP	14722116
GO:0042169	Function	SH2 domain binding	IPI	20442417
GO:0043303	Process	Mast cell degranulation	IEA
GO:0045121	Component	Membrane raft	IDA	12486104, 12514734
GO:0050853	Process	B cell receptor signaling pathway	IBA
GO:0050853	Process	B cell receptor signaling pathway	IDA	12514734
GO:0070062	Component	Extracellular exosome	HDA	20458337

MIM	HGNC	e!Ensembl
605719	12749	ENSG00000086730

Q9GZY6

Protein name

Linker for activation of T-cells family member 2 (Linker for activation of B-cells) (Membrane-associated adapter molecule) (Non-T-cell activation linker) (Williams-Beuren syndrome chromosomal region 15 protein) (Williams-Beuren syndrome chromosomal region

Protein 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)-

PDB

3MAZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15703	LAT2	28 → 238	Linker for activation of T-cells family member 2	Family

Tissue specificity

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

Sequence

MSSGTELLWPGAALLVLLGVAASLCVRCSRPGAKRSEKIYQQRSLREDQQSFTGSRTYSL
VGQAWPGPLADMAPTRKDKLLQFYPSLEDPASSRYQNFSKGSRHGSEEAYIDPIAMEYYN
WGRFSKPPEDDDANSYENVLICKQKTTETGAQQEGIGGLCRGDLSLSLALKTGPTSGLCP
SASPEEDEESEDYQNSASIHQWRESRKVMGQLQREASPGPVGSPDEEDGEPDYVNGEVAA
TEA

Sequence length

243

Interactions

View interactions

	KEGG		Reactome
	Natural killer cell mediated cytotoxicity		Role of LAT2/NTAL/LAB on calcium mobilization

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILLIAMS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

LAT2 (linker for activation of T cells family member 2)