LOCUS       NM_032464               1942 bp    mRNA    linear   PRI 04-JUL-2024
DEFINITION  Homo sapiens linker for activation of T cells family member 2
            (LAT2), transcript variant 1, mRNA.
ACCESSION   NM_032464 NM_022040
VERSION     NM_032464.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1942)
  AUTHORS   Crocco,P., Dato,S., La Grotta,R., Passarino,G. and Rose,G.
  TITLE     Evidence for a relationship between genetic polymorphisms of the
            L-DOPA transporter LAT2/4F2hc and risk of hypertension in the
            context of chronic kidney disease
  JOURNAL   BMC Med Genomics 17 (1), 163 (2024)
   PUBMED   38890684
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1942)
  AUTHORS   Narbona-Sanchez,I., Perez-Linaza,A., Serrano-Garcia,I.,
            Vico-Barranco,I., Fernandez-Aguilar,L.M., Poveda-Diaz,J.L., Sanchez
            Del Pino,M.J., Medina-Varo,F., Arbulo-Echevarria,M.M. and Aguado,E.
  TITLE     Expression of Non-T Cell Activation Linker (NTAL) in Jurkat Cells
            Negatively Regulates TCR Signaling: Potential Role in Rheumatoid
            Arthritis
  JOURNAL   Int J Mol Sci 24 (5), 4574 (2023)
   PUBMED   36902005
  REMARK    GeneRIF: Expression of Non-T Cell Activation Linker (NTAL) in
            Jurkat Cells Negatively Regulates TCR Signaling: Potential Role in
            Rheumatoid Arthritis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1942)
  AUTHORS   Zaugg,J., Huang,X., Ziegler,F., Rubin,M., Graff,J., Muller,J.,
            Moser-Hassig,R., Powell,T., Gertsch,J., Altmann,K.H. and
            Albrecht,C.
  TITLE     Small molecule inhibitors provide insights into the relevance of
            LAT1 and LAT2 in materno-foetal amino acid transport
  JOURNAL   J Cell Mol Med 24 (21), 12681-12693 (2020)
   PUBMED   33001560
REFERENCE   4  (bases 1 to 1942)
  AUTHORS   Kantipudi,S., Jeckelmann,J.M., Ucurum,Z., Bosshart,P.D. and
            Fotiadis,D.
  TITLE     The Heavy Chain 4F2hc Modulates the Substrate Affinity and
            Specificity of the Light Chains LAT1 and LAT2
  JOURNAL   Int J Mol Sci 21 (20), 7573 (2020)
   PUBMED   33066406
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1942)
  AUTHORS   Thome,C.H., Ferreira,G.A., Pereira-Martins,D.A., Dos Santos,G.A.,
            Ortiz,C.A., de Souza,L.E.B., Sobral,L.M., Silva,C.L.A.,
            Scheucher,P.S., Gil,C.D., Leopoldino,A.M., Silveira,D.R.A.,
            Coelho-Silva,J.L., Traina,F., Koury,L.C., Melo,R.A.M.,
            Bittencourt,R., Pagnano,K., Pasquini,R., Nunes,E.C., Fagundes,E.M.,
            Gloria,A.B.F., Kerbauy,F.R., Chauffaille,M.L., Keating,A.,
            Tallman,M.S., Ribeiro,R.C., Dillon,R., Ganser,A., Lowenberg,B.,
            Valk,P., Lo-Coco,F., Sanz,M.A., Berliner,N., Faca,V.M. and
            Rego,E.M.
  TITLE     NTAL is associated with treatment outcome, cell proliferation and
            differentiation in acute promyelocytic leukemia
  JOURNAL   Sci Rep 10 (1), 10315 (2020)
   PUBMED   32587277
  REMARK    GeneRIF: NTAL is associated with treatment outcome, cell
            proliferation and differentiation in acute promyelocytic leukemia.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1942)
  AUTHORS   Brdicka,T., Imrich,M., Angelisova,P., Brdickova,N., Horvath,O.,
            Spicka,J., Hilgert,I., Luskova,P., Draber,P., Novak,P., Engels,N.,
            Wienands,J., Simeoni,L., Osterreicher,J., Aguado,E., Malissen,M.,
            Schraven,B. and Horejsi,V.
  TITLE     Non-T cell activation linker (NTAL): a transmembrane adaptor
            protein involved in immunoreceptor signaling
  JOURNAL   J Exp Med 196 (12), 1617-1626 (2002)
   PUBMED   12486104
  REMARK    GeneRIF: data show that NTAL (non-T cell activation linker) appears
            to be a structural and possibly also functional homologue of LAT
            (linker for activation of T cells)in non-T cells [non-T cell
            activation linker]
REFERENCE   7  (bases 1 to 1942)
  AUTHORS   Martindale,D.W., Wilson,M.D., Wang,D., Burke,R.D., Chen,X.,
            Duronio,V. and Koop,B.F.
  TITLE     Comparative genomic sequence analysis of the Williams syndrome
            region (LIMK1-RFC2) of human chromosome 7q11.23
  JOURNAL   Mamm Genome 11 (10), 890-898 (2000)
   PUBMED   11003705
REFERENCE   8  (bases 1 to 1942)
  AUTHORS   Doyle,J.L., DeSilva,U., Miller,W. and Green,E.D.
  TITLE     Divergent human and mouse orthologs of a novel gene
            (WBSCR15/Wbscr15) reside within the genomic interval commonly
            deleted in Williams syndrome
  JOURNAL   Cytogenet Cell Genet 90 (3-4), 285-290 (2000)
   PUBMED   11124535
REFERENCE   9  (bases 1 to 1942)
  AUTHORS   Perez Jurado,L.A., Peoples,R., Kaplan,P., Hamel,B.C. and Francke,U.
  TITLE     Molecular definition of the chromosome 7 deletion in Williams
            syndrome and parent-of-origin effects on growth
  JOURNAL   Am J Hum Genet 59 (4), 781-792 (1996)
   PUBMED   8808592
REFERENCE   10 (bases 1 to 1942)
  AUTHORS   Osborne,L.R., Martindale,D., Scherer,S.W., Shi,X.M., Huizenga,J.,
            Heng,H.H., Costa,T., Pober,B., Lew,L., Brinkman,J., Rommens,J.,
            Koop,B. and Tsui,L.C.
  TITLE     Identification of genes from a 500-kb region at 7q11.23 that is
            commonly deleted in Williams syndrome patients
  JOURNAL   Genomics 36 (2), 328-336 (1996)
   PUBMED   8812460
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM468969.1, BC001609.1 and
            AI492348.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_032464.2.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. All three variants encode the same protein.
            
            CCDS Note: The coding region has been updated to represent an
            alternate splice pattern, resulting in an alternate and longer
            C-terminus that is better supported by available transcript and
            conservation data.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF252611.1, SRR3476690.44670.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000460943.6/ ENSP00000420494.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-83                BM468969.1         603-685
            84-1939             BC001609.1         145-2000
            1940-1942           AI492348.1         9-11                c
FEATURES             Location/Qualifiers
     source          1..1942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..1942
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /note="linker for activation of T cells family member 2"
                     /db_xref="GeneID:7462"
                     /db_xref="HGNC:HGNC:12749"
                     /db_xref="MIM:605719"
     exon            1..83
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     exon            84..272
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     exon            273..395
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     CDS             302..1033
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /note="Williams-Beuren syndrome chromosomal region 5
                     protein; Williams-Beuren syndrome chromosomal region 15
                     protein; non-T-cell activation linker; linker for
                     activation of B-cells; membrane-associated adapter
                     molecule; linker for activation of T cells, transmembrane
                     adaptor 2"
                     /codon_start=1
                     /product="linker for activation of T-cells family member
                     2"
                     /protein_id="NP_115853.2"
                     /db_xref="CCDS:CCDS5566.2"
                     /db_xref="GeneID:7462"
                     /db_xref="HGNC:HGNC:12749"
                     /db_xref="MIM:605719"
                     /translation="MSSGTELLWPGAALLVLLGVAASLCVRCSRPGAKRSEKIYQQRS
                     LREDQQSFTGSRTYSLVGQAWPGPLADMAPTRKDKLLQFYPSLEDPASSRYQNFSKGS
                     RHGSEEAYIDPIAMEYYNWGRFSKPPEDDDANSYENVLICKQKTTETGAQQEGIGGLC
                     RGDLSLSLALKTGPTSGLCPSASPEEDEESEDYQNSASIHQWRESRKVMGQLQREASP
                     GPVGSPDEEDGEPDYVNGEVAATEA"
     exon            396..435
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     exon            436..479
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     exon            480..528
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     exon            529..566
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     exon            567..602
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     exon            603..633
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     exon            634..689
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     exon            690..749
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     exon            750..929
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1051
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..1942
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1917..1922
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /note="hexamer: AATAAA"
     polyA_site      1942
                     /gene="LAT2"
                     /gene_synonym="HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5"
                     /note="major polyA site"
ORIGIN      
        1 agtgtcagtg gtgttggcat cagcttgggc aggtgtgcgg gctcaggatg gggcggccgt
       61 ggtgaggaac cctggactct cagagatgga atttcaccgt gttgcctagg ctggtctgga
      121 gctcttgatc tcaagcgatc ctccctgcct cggcctccca acgtgctggg attataggcg
      181 tgagccaccg ctcctggcca gggtctgttc ctagttgcaa cagttcttgg aaacccactc
      241 gagagggcca cgcctccatt caccaggcca cgcatcacaa gaggcaacac caggagccaa
      301 catgagctcg gggactgaac tgctgtggcc cggagcagcg ctgctggtgc tgttgggggt
      361 ggcagccagt ctgtgtgtgc gctgctcacg cccaggtgca aagaggtcag agaaaatcta
      421 ccagcagaga agtctgcgtg aggaccaaca gagctttacg gggtcccgga cctactcctt
      481 ggtcgggcag gcatggccag gacccctggc ggacatggca cccacaagga aggacaagct
      541 gttgcaattc taccccagcc tggaggatcc agcatcttcc aggtaccaga acttcagcaa
      601 aggaagcaga cacgggtcgg aggaagccta catagacccc attgccatgg agtattacaa
      661 ctgggggcgg ttctcgaagc ccccagaaga tgatgatgcc aattcctacg agaatgtgct
      721 catttgcaag cagaaaacca cagagacagg tgcccagcag gagggcatag gtggcctctg
      781 cagaggggac ctcagcctgt cactggccct gaagactggc cccacttctg gtctctgtcc
      841 ctctgcctcc ccggaagaag atgaggaatc tgaggattat cagaactcag catccatcca
      901 tcagtggcgc gagtccagga aggtcatggg gcaactccag agagaagcat cccctggccc
      961 ggtgggaagc ccagacgagg aggacgggga accggattac gtgaatgggg aggtggcagc
     1021 cacagaagcc tagggcagac caagaagaaa ggagccaagg caaagaggga ccactgtgct
     1081 catggaccca tcgctgcctt ccaaggacca tttcccagag ctactcaact tttaagcccc
     1141 tgccatggtt gctcctggaa ggagaaccag ccaccctgag gaccacctgg ccatgcgtgc
     1201 acagcctggg aaaagacagt tactcacggg agctgcaggc ccgtcaccaa gccctctccc
     1261 gacccaggct ttgtggggca ggcacctggt accaagggta acccggctcc tggtatggac
     1321 ggatgcgcag gatttaggat aagctgtcac ccagtcccca taacaaaacc actgtccaac
     1381 actggtatct gtgttctttt gtgctatgaa tttggattcc taattgctat tgttggttgc
     1441 tggggtttta aatgattgat aagcttgtac agttaactta tagaggggga gccatattta
     1501 acattctgga tttcagagta gagatttctg tgttgtctcc tagaaagcat tacatgtagt
     1561 ttatttcagc atccttgttg ggtggggccc tggctctctt cccctttggt gggacctccc
     1621 ctttctttgg gcttcagttc actcaggaag aaatgaggct gtcgccatct ttatgtgctt
     1681 ccagtggaaa tgtcacttgc tacagacaat agtgcatgag agtctagaga agtagtgacc
     1741 agaacagggc agagtaggtc ccctccatgg ccctgaatcc tcctctgctc cagggctggc
     1801 ctctgcagag ctgattaaac agtgttgtga ctgtctcatg ggaagagctg gggcccagag
     1861 ggaccttgag tcagaaatgt tgccagaaaa agtatctcct ccaaccaaaa catctcaata
     1921 aaaccatttt agttgaaaag ca
//
