LOCUS       NM_001366544            2472 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens inositol 1,4,5-triphosphate receptor associated 2
            (IRAG2), transcript variant 8, mRNA.
ACCESSION   NM_001366544 XM_011520667
VERSION     NM_001366544.2
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 2472)
  AUTHORS   Gurusaran,M., Erlandsen,B.S. and Davies,O.R.
  TITLE     The crystal structure of SUN1-KASH6 reveals an asymmetric LINC
            complex architecture compatible with nuclear membrane insertion
  JOURNAL   Commun Biol 7 (1), 138 (2024)
   PUBMED   38291267
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2472)
  AUTHORS   Okumura,W., Tadahira,K., Kozono,T., Tamura-Nakano,M., Sato,H.,
            Matsui,H., Dohi,T., Rohrer,J., Tonozuka,T. and Nishikawa,A.
  TITLE     Jaw1/LRMP is associated with the maintenance of Golgi ribbon
            structure
  JOURNAL   J Biochem 173 (5), 383-392 (2023)
   PUBMED   36689741
  REMARK    GeneRIF: Jaw1/LRMP is associated with the maintenance of Golgi
            ribbon structure.
REFERENCE   3  (bases 1 to 2472)
  AUTHORS   Okumura,W., Kozono,T., Sato,H., Matsui,H., Takagi,T., Tonozuka,T.
            and Nishikawa,A.
  TITLE     Jaw1/LRMP increases Ca2+ influx upon GPCR stimulation with
            heterogeneous effect on the activity of each ITPR subtype
  JOURNAL   Sci Rep 12 (1), 9476 (2022)
   PUBMED   35676525
  REMARK    GeneRIF: Jaw1/LRMP increases Ca(2+) influx upon GPCR stimulation
            with heterogeneous effect on the activity of each ITPR subtype.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2472)
  AUTHORS   Bataille,P., Michaud,V., Robert,M.P., Bekel,L., Leclerc-Mercier,S.,
            Harroche,A., Celerier,C., Lasseaux,E., Borgel,D.,
            Bremond-Gignac,D., Bodemer,C., Arveiler,B. and Hadj-Rabia,S.
  TITLE     Clinical variability and probable founder effect in oculocutaneous
            albinism type 7
  JOURNAL   Clin Genet 97 (3), 527-528 (2020)
   PUBMED   31694064
  REMARK    GeneRIF: Clinical variability and probable founder effect in
            oculocutaneous albinism type 7.
REFERENCE   5  (bases 1 to 2472)
  AUTHORS   Eijgelsheim,M., Newton-Cheh,C., Sotoodehnia,N., de Bakker,P.I.,
            Muller,M., Morrison,A.C., Smith,A.V., Isaacs,A., Sanna,S., Dorr,M.,
            Navarro,P., Fuchsberger,C., Nolte,I.M., de Geus,E.J., Estrada,K.,
            Hwang,S.J., Bis,J.C., Ruckert,I.M., Alonso,A., Launer,L.J.,
            Hottenga,J.J., Rivadeneira,F., Noseworthy,P.A., Rice,K.M., Perz,S.,
            Arking,D.E., Spector,T.D., Kors,J.A., Aulchenko,Y.S., Tarasov,K.V.,
            Homuth,G., Wild,S.H., Marroni,F., Gieger,C., Licht,C.M.,
            Prineas,R.J., Hofman,A., Rotter,J.I., Hicks,A.A., Ernst,F.,
            Najjar,S.S., Wright,A.F., Peters,A., Fox,E.R., Oostra,B.A.,
            Kroemer,H.K., Couper,D., Volzke,H., Campbell,H., Meitinger,T.,
            Uda,M., Witteman,J.C., Psaty,B.M., Wichmann,H.E., Harris,T.B.,
            Kaab,S., Siscovick,D.S., Jamshidi,Y., Uitterlinden,A.G.,
            Folsom,A.R., Larson,M.G., Wilson,J.F., Penninx,B.W., Snieder,H.,
            Pramstaller,P.P., van Duijn,C.M., Lakatta,E.G., Felix,S.B.,
            Gudnason,V., Pfeufer,A., Heckbert,S.R., Stricker,B.H.,
            Boerwinkle,E. and O'Donnell,C.J.
  TITLE     Genome-wide association analysis identifies multiple loci related
            to resting heart rate
  JOURNAL   Hum Mol Genet 19 (19), 3885-3894 (2010)
   PUBMED   20639392
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   6  (bases 1 to 2472)
  AUTHORS   Kohno,T., Kunitoh,H., Suzuki,K., Yamamoto,S., Kuchiba,A.,
            Matsuno,Y., Yanagitani,N. and Yokota,J.
  TITLE     Association of KRAS polymorphisms with risk for lung adenocarcinoma
            accompanied by atypical adenomatous hyperplasias
  JOURNAL   Carcinogenesis 29 (5), 957-963 (2008)
   PUBMED   18299280
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2472)
  AUTHORS   Manenti,G., Galbiati,F., Pettinicchio,A., Spinola,M., Piconese,S.,
            Leoni,V.P., Conti,B., Ravagnani,F., Incarbone,M., Pastorino,U. and
            Dragani,T.A.
  TITLE     A V141L polymorphism of the human LRMP gene is associated with
            survival of lung cancer patients
  JOURNAL   Carcinogenesis 27 (7), 1386-1390 (2006)
   PUBMED   16410263
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2472)
  AUTHORS   Snyder,H.L., Bacik,I., Bennink,J.R., Kearns,G., Behrens,T.W.,
            Bachi,T., Orlowski,M. and Yewdell,J.W.
  TITLE     Two novel routes of transporter associated with antigen processing
            (TAP)-independent major histocompatibility complex class I antigen
            processing
  JOURNAL   J Exp Med 186 (7), 1087-1098 (1997)
   PUBMED   9314557
REFERENCE   9  (bases 1 to 2472)
  AUTHORS   Behrens,T.W., Kearns,G.M., Rivard,J.J., Bernstein,H.D.,
            Yewdell,J.W. and Staudt,L.M.
  TITLE     Carboxyl-terminal targeting and novel post-translational processing
            of JAW1, a lymphoid protein of the endoplasmic reticulum
  JOURNAL   J Biol Chem 271 (38), 23528-23534 (1996)
   PUBMED   8798562
REFERENCE   10 (bases 1 to 2472)
  AUTHORS   Behrens,T.W., Jagadeesh,J., Scherle,P., Kearns,G., Yewdell,J. and
            Staudt,L.M.
  TITLE     Jaw1, A lymphoid-restricted membrane protein localized to the
            endoplasmic reticulum
  JOURNAL   J Immunol 153 (2), 682-690 (1994)
   PUBMED   8021504
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023510.16.
            
            On Sep 14, 2020 this sequence version replaced NM_001366544.1.
            
            Summary: The protein encode dby this gene is expressed in a
            developmentally regulated manner in lymphoid cell lines and
            tissues. The protein is localized to the cytoplasmic face of the
            endoplasmic reticulum. [provided by RefSeq, Jul 2008].
            
            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 :: SRR14038192.2939137.1,
                                           SRR14038196.263620.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000556887.6/ ENSP00000451048.2
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-251               AC023510.16        84663-84913         c
            252-313             AC023510.16        75966-76027         c
            314-394             AC023510.16        74719-74799         c
            395-491             AC023510.16        73803-73899         c
            492-639             AC023510.16        71107-71254         c
            640-721             AC023510.16        68188-68269         c
            722-768             AC023510.16        58329-58375         c
            769-833             AC023510.16        58157-58221         c
            834-941             AC023510.16        57856-57963         c
            942-1012            AC023510.16        54126-54196         c
            1013-1070           AC023510.16        49462-49519         c
            1071-1134           AC023510.16        47942-48005         c
            1135-1162           AC023510.16        47829-47856         c
            1163-1303           AC023510.16        47422-47562         c
            1304-1438           AC023510.16        40575-40709         c
            1439-1586           AC023510.16        36294-36441         c
            1587-1630           AC023510.16        35378-35421         c
            1631-1693           AC023510.16        33720-33782         c
            1694-1743           AC023510.16        33561-33610         c
            1744-1845           AC023510.16        33157-33258         c
            1846-1953           AC023510.16        30569-30676         c
            1954-2472           AC023510.16        29284-29802         c
FEATURES             Location/Qualifiers
     source          1..2472
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     gene            1..2472
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /note="inositol 1,4,5-triphosphate receptor associated 2"
                     /db_xref="GeneID:4033"
                     /db_xref="HGNC:HGNC:6690"
                     /db_xref="MIM:602003"
     exon            1..251
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            252..313
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            314..394
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            395..491
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            492..639
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            640..721
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     CDS             698..2197
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /note="isoform a is encoded by transcript variant 8;
                     protein Jaw1; lymphoid restricted membrane protein"
                     /codon_start=1
                     /product="inositol 1,4,5-triphosphate receptor associated
                     2 isoform a"
                     /protein_id="NP_001353473.1"
                     /db_xref="CCDS:CCDS8701.1"
                     /db_xref="GeneID:4033"
                     /db_xref="HGNC:HGNC:6690"
                     /db_xref="MIM:602003"
                     /translation="MNDDPSMEENGVERVCPESLLQSREYSSLPLPRHTSSTDGTITS
                     SDPGLEILNMASCDLDRNSLCKKEEDTRSASPTIEAQGTSPAHDNIAFQDSTSKDKTI
                     LNLEAKEEPETIEEHKKEHASGDSVVSPLPVTTVKSVNLRQSENTSANEKEVEAEFLR
                     LSLGFKCDWFTLEKRVKLEERSRDLAEENLKKEITNCLKLLESLTPLCEDDNQAQEII
                     KKLEKSIKFLSQCAARVASRAEMLGAINQESRVSKAVEVMIQHVENLKRMYAKEHAEL
                     EELKQVLLQNERSFNPLEDDDDCQIKKRSASLNSKPSSLRRVTIASLPRNIGNAGMVA
                     GMENNDRFSRRSSSWRILGSKQSEHRPSLPRFISTYSWADAEEEKCELKTKDDSEPSG
                     EETVERTRKPSLSEKKNNPSKWDVSSVYDTIASWATNLKSSIRKANKALWLSIAFIVL
                     FAALMSFLTGQLFQKSVDAAPTQQEDSWTSLEHILWPFTRLRHNGPPPV"
     exon            722..768
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            769..833
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            834..941
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1012
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1070
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1134
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1162
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1303
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1304..1438
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1439..1586
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1587..1630
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1631..1693
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1694..1743
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..1845
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1846..1953
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1954..2472
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2449..2454
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /note="hexamer: AATAAA"
     polyA_site      2472
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /note="major polyA site"
ORIGIN      
        1 agttttgcct gcatcataag agtgagcact ccattgcttt ctttcctggc cacactgcta
       61 caatccagca ctaactatcc atgtccaggg taaggatcga gatcgagaag cccacactgc
      121 cagtgaaaaa gctacgtctt tactgcataa attagaggaa gcaatttcgg aacaacggaa
      181 ccttcaaact ataaatactg aattatcgaa cacttgccag gcacttcagc agaagacaag
      241 gaaactgaag acaacaattg agtcacttca aaaggagttc attgaagggg aacaccatgg
      301 cttgctgttt cagagctttt tagatgagga atttcctcac tatgattccc tgtcctgcgc
      361 agatgcaatt caacaacctc ttcaagaaaa attgaagcag tgttgccaca aactatatgg
      421 tggtcaagaa gcaagaatac atcagacacc cctgaccttg aaacatacgt gctggtacac
      481 acctctgctg gatgccttat ctctggatag ttttacagca gttccaaccc tggaatcaac
      541 acctttctca ggtgtagcca accaaatcca cactctgtgt gaaaggccca catatggaga
      601 agtaaaggat ggtgctttgg atgtaaaaag acaacacaag tgcccaggcc ccacaagtgg
      661 ccccagccca ggaacgaatc tctcaggctg catcaggatg aatgatgacc caagtatgga
      721 agagaatggt gttgaacgcg tgtgtcctga gagcctgctg cagtccaggg aatattcctc
      781 actaccatta cccagacaca cttcatcgac agacggtact ataacttcaa gtgatcctgg
      841 attagaaatt ctgaatatgg cttcttgtga ccttgacaga aactcgctct gtaagaaaga
      901 ggaggataca agatcagctt ctcccacgat agaggcccaa ggcacaagtc cagctcatga
      961 taatattgca ttccaagact ctacgagtaa ggataaaacc atattaaatc tggaagccaa
     1021 agaggaacca gaaacaatag aagaacataa aaaagaacat gcttcaggag actctgtggt
     1081 ttcccctctt cctgtaacca ctgtgaaatc ggttaacctt agacaaagtg agaacacttc
     1141 tgctaatgag aaggaggtgg aggcagaatt tctcagatta tctttgggat ttaagtgtga
     1201 ctggtttacc ttggagaaga gagtgaagct tgaagagagg tcccgtgact tggcagaaga
     1261 aaatttgaag aaagaaatca ctaactgttt aaaactatta gagtctttaa cacctctgtg
     1321 tgaagatgac aaccaggcac aggaaatcat taagaagctg gagaagagta taaagtttct
     1381 tagccagtgt gcagcacgag tggccagtag ggctgagatg ttgggagcca tcaatcagga
     1441 aagccgggtt agtaaagcag ttgaagtgat gattcagcac gtagaaaact tgaagaggat
     1501 gtatgccaaa gagcacgctg aattagaaga actgaaacag gttcttctgc agaatgaaag
     1561 gtctttcaat cctcttgaag atgatgatga ctgccaaatt aaaaaacgtt cagcttctct
     1621 aaactccaag ccatcttctc tacgaagagt gactattgcc tctttaccca gaaatattgg
     1681 aaatgcagga atggtggctg ggatggaaaa taatgatcga ttcagtagaa ggtcaagcag
     1741 ttggcgtatt ttggggtcaa agcagagtga acaccgtccc tcattacctc gatttattag
     1801 cacctattcc tgggcagatg ctgaagaaga aaaatgtgaa ctaaaaacta aagatgactc
     1861 agagccatct ggagaagaaa cagtagaaag gacaaggaag ccaagtcttt ctgaaaagaa
     1921 aaataatcca tcaaagtggg atgtctcttc agtttatgac acaatagctt cctgggcaac
     1981 aaatctcaag tcctccatca gaaaggctaa taaggccctc tggctctcta ttgcattcat
     2041 tgtactgttt gcagctttga tgagcttcct cacaggccaa ttattccaga agtctgtgga
     2101 tgccgctccc acacagcaag aggactcatg gacgtctcta gaacatatct tgtggccatt
     2161 taccagactc cgacacaatg ggccaccacc agtgtgacag caggacatcc taatatatgg
     2221 atcttgattt ttaagtttca gtatctgaac ttcgtaaatt agtaactttt agctgggaaa
     2281 gtatagcatg aaaccagagg ttctcagaat gactgtaaga tagcttacat ttcctctttt
     2341 tgcctttatc tccccaacta aaatacaatg gggaagaagt ctgcctatga tctttgaatg
     2401 agctttttaa ggaagaaata ttatatattg tttgttaaag tttattgaaa taaagaatca
     2461 tttaaatctt ca
//
