LOCUS       NM_199180               2980 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens kirre like nephrin family adhesion molecule 2
            (KIRREL2), transcript variant 3, mRNA.
ACCESSION   NM_199180
VERSION     NM_199180.4
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 2980)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2980)
  AUTHORS   Voskarides,K., Stefanou,C., Pieri,M., Demosthenous,P., Felekkis,K.,
            Arsali,M., Athanasiou,Y., Xydakis,D., Stylianou,K., Daphnis,E.,
            Goulielmos,G., Loizou,P., Savige,J., Hohne,M., Volker,L.A.,
            Benzing,T., Maxwell,P.H., Gale,D.P., Gorski,M., Boger,C.,
            Kollerits,B., Kronenberg,F., Paulweber,B., Zavros,M., Pierides,A.
            and Deltas,C.
  TITLE     A functional variant in NEPH3 gene confers high risk of renal
            failure in primary hematuric glomerulopathies. Evidence for
            predisposition to microalbuminuria in the general population
  JOURNAL   PLoS One 12 (3), e0174274 (2017)
   PUBMED   28334007
  REMARK    GeneRIF: SNP V353M confers high risk of renal failure in primary
            hematuric glomerulopathies and predisposition to microalbuminuria
            in the general population
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2980)
  AUTHORS   Yesildag,B., Bock,T., Herrmanns,K., Wollscheid,B. and Stoffel,M.
  TITLE     Kin of IRRE-like Protein 2 Is a Phosphorylated Glycoprotein That
            Regulates Basal Insulin Secretion
  JOURNAL   J Biol Chem 290 (43), 25891-25906 (2015)
   PUBMED   26324709
REFERENCE   4  (bases 1 to 2980)
  AUTHORS   Ristola,M. and Lehtonen,S.
  TITLE     Functions of the podocyte proteins nephrin and Neph3 and the
            transcriptional regulation of their genes
  JOURNAL   Clin Sci (Lond) 126 (5), 315-328 (2014)
   PUBMED   24219158
  REMARK    GeneRIF: summarize the current knowledge of the functions of
            nephrin and Neph-family proteins and transcription factors and
            agents that control nephrin and Neph3 gene expression.
            Review article
REFERENCE   5  (bases 1 to 2980)
  AUTHORS   Ristola,M., Arpiainen,S., Saleem,M.A., Holthofer,H. and Lehtonen,S.
  TITLE     Transcription of nephrin-Neph3 gene pair is synergistically
            activated by WT1 and NF-kappaB and silenced by DNA methylation
  JOURNAL   Nephrol Dial Transplant 27 (5), 1737-1745 (2012)
   PUBMED   21980157
  REMARK    GeneRIF: Transcription of nephrin-Neph3 gene pair is
            synergistically activated by WT1 and NF-kappaB and silenced by DNA
            methylation.
REFERENCE   6  (bases 1 to 2980)
  AUTHORS   Ristola,M., Arpiainen,S., Saleem,M.A., Mathieson,P.W., Welsh,G.I.,
            Lehtonen,S. and Holthofer,H.
  TITLE     Regulation of Neph3 gene in podocytes--key roles of transcription
            factors NF-kappaB and Sp1
  JOURNAL   BMC Mol Biol 10, 83 (2009)
   PUBMED   19703278
  REMARK    GeneRIF: NF-kappaB and Sp1 response elements are essential for the
            basal transcriptional activity of the Neph3 promoter.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2980)
  AUTHORS   Ihalmo,P., Schmid,H., Rastaldi,M.P., Mattinzoli,D., Langham,R.G.,
            Luimula,P., Kilpikari,R., Lassila,M., Gilbert,R.E., Kerjaschki,D.,
            Kretzler,M. and Holthofer,H.
  TITLE     Expression of filtrin in human glomerular diseases
  JOURNAL   Nephrol Dial Transplant 22 (7), 1903-1909 (2007)
   PUBMED   17442742
REFERENCE   8  (bases 1 to 2980)
  AUTHORS   Rinta-Valkama,J., Aaltonen,P., Lassila,M., Palmen,T.,
            Tossavainen,P., Knip,M. and Holthofer,H.
  TITLE     Densin and filtrin in the pancreas and in the kidney, targets for
            humoral autoimmunity in patients with type 1 diabetes
  JOURNAL   Diabetes Metab Res Rev 23 (2), 119-126 (2007)
   PUBMED   16741999
  REMARK    GeneRIF: Filtrin can act as autoantigen, and autoantibodies against
            these can be detected in patients with type 1 diabetes.
REFERENCE   9  (bases 1 to 2980)
  AUTHORS   Sun,C., Kilburn,D., Lukashin,A., Crowell,T., Gardner,H.,
            Brundiers,R., Diefenbach,B. and Carulli,J.P.
  TITLE     Kirrel2, a novel immunoglobulin superfamily gene expressed
            primarily in beta cells of the pancreatic islets
  JOURNAL   Genomics 82 (2), 130-142 (2003)
   PUBMED   12837264
  REMARK    GeneRIF: KIRREL2 protein is a beta-cell-expressed Ig domain protein
            and may be involved in pancreas development or beta cell function
REFERENCE   10 (bases 1 to 2980)
  AUTHORS   Ihalmo,P., Palmen,T., Ahola,H., Valtonen,E. and Holthofer,H.
  TITLE     Filtrin is a novel member of nephrin-like proteins
  JOURNAL   Biochem Biophys Res Commun 300 (2), 364-370 (2003)
   PUBMED   12504092
  REMARK    GeneRIF: Identification of Filtrin as a member of nephrin-like
            proteins.
            GeneRIF: Filtrin is a novel protein with substantial homology to
            nephrin. It is a transmembrane protein of the immunoglobulin
            superfamily (apparent molecular weight 107 kDa) and most
            prominently expressed in the pancreas, lymph nodes as well as
            kidney glomerulus.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC007312.1, AB593116.1 and
            BM693057.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_199180.3.
            
            Summary: This gene encodes a type I transmembrane protein and
            member of the immunoglobulin superfamily of cell adhesion
            molecules. The encoded protein localizes to adherens junctions in
            pancreatic beta cells and regulates insulin secretion.
            Autoantibodies against the encoded protein have been detected in
            serum from patients with type 1 diabetes. This gene may also play a
            role in glomerular development and decreased expression of this
            gene has been observed in human glomerular diseases. This gene and
            the related opposite-strand gene nephrin (GeneID: 527362) are
            regulated by a bidirectional promoter. [provided by RefSeq, Jul
            2016].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (c).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB593116.1, AY358742.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151405, SAMEA2153347
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360202.10/ ENSP00000353331.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-33                BC007312.1         4-36
            34-2978             AB593116.1         1-2945
            2979-2980           BM693057.1         333-334
FEATURES             Location/Qualifiers
     source          1..2980
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..2980
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /note="kirre like nephrin family adhesion molecule 2"
                     /db_xref="GeneID:84063"
                     /db_xref="HGNC:HGNC:18816"
                     /db_xref="MIM:607762"
     exon            1..270
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             210..2336
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /note="isoform c precursor is encoded by transcript
                     variant 3; nephrin-like gene 1; nephrin-like protein 3;
                     kin of irregular chiasm-like protein 2; kin of IRRE like
                     2"
                     /codon_start=1
                     /product="kin of IRRE-like protein 2 isoform c precursor"
                     /protein_id="NP_954649.3"
                     /db_xref="CCDS:CCDS12481.1"
                     /db_xref="GeneID:84063"
                     /db_xref="HGNC:HGNC:18816"
                     /db_xref="MIM:607762"
                     /translation="MLRMRVPALLVLLFCFRGRAGPSPHFLQQPEDLVVLLGEEARLP
                     CALGAYWGLVQWTKSGLALGGQRDLPGWSRYWISGNAANGQHDLHIRPVELEDEASYE
                     CQATQAGLRSRPAQLHVLVPPEAPQVLGGPSVSLVAGVPANLTCRSRGDARPTPELLW
                     FRDGVLLDGATFHQTLLKEGTPGSVESTLTLTPFSHDDGATFVCRARSQALPTGRDTA
                     ITLSLQYPPEVTLSASPHTVQEGEKVIFLCQATAQPPVTGYRWAKGGSPVLGARGPRL
                     EVVADASFLTEPVSCEVSNAVGSANRSTALDVLFGPILQAKPEPVSVDVGEDASFSCA
                     WRGNPLPRVTWTRRGGAQVLGSGATLRLPSVGPEDAGDYVCRAEAGLSGLRGGAAEAR
                     LTVNAPPVVTALHSAPAFLRGPARLQCLVFASPAPDAVVWSWDEGFLEAGSQGRFLVE
                     TFPAPESRGGLGPGLISVLHISGTQESDFSRSFNCSARNRLGEGGAQASLGRRDLLPT
                     VRIVAGVAAATTTLLMVITGVALCCWRHSKASASFSEQKNLMRIPGSSDGSSSRGPEE
                     EETGSREDRGPIVHTDHSDLVLEEEGTLETKDPTNGYYKVRGVSVSLSLGEAPGGGLF
                     LPPPSPLGPPGTPTFYDFNPHLGMVPPCRLYRARAGYLTTPHPRAFTSYIKPTSFGPP
                     DLAPGTPPFPYAAFPTPSHPRLQTHV"
     exon            271..420
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            421..570
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            571..731
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            732..882
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            883..988
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1137
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..1265
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1398
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1399..1499
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..1719
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1720..1824
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1825..1934
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1935..2000
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     exon            2001..2980
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2957..2962
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /note="hexamer: AATAAA"
     polyA_site      2980
                     /gene="KIRREL2"
                     /gene_synonym="FILTRIN; NEPH3; NLG1"
                     /note="major polyA site"
ORIGIN      
        1 agagacccag gccgcggaac tggcaggcgt ttcagagcgt cagaggctgc ggatgagcag
       61 acttggagga ctccaggcca gagactaggc tgggcgaaga gtcgagcgtg aagggggctc
      121 cgggccaggg tgacaggagg cgtgcttgag aggaagaagt tgacgggaag gccagtgcga
      181 cggcaaatct cgtgaacctt gggggacgaa tgctcaggat gcgggtcccc gccctcctcg
      241 tcctcctctt ctgcttcaga gggagagcag gcccgtcgcc ccatttcctg caacagccag
      301 aggacctggt ggtgctgctg ggggaggaag cccggctgcc gtgtgctctg ggcgcctact
      361 gggggctagt tcagtggact aagagtgggc tggccctagg gggccaaagg gacctaccag
      421 ggtggtcccg gtactggata tcagggaatg cagccaatgg ccagcatgac ctccacatta
      481 ggcccgtgga gctagaggat gaagcatcat atgaatgtca ggctacacaa gcaggcctcc
      541 gctccagacc agcccaactg cacgtgctgg tccccccaga agccccccag gtgctgggcg
      601 gcccctctgt gtctctggtt gctggagttc ctgcgaacct gacatgtcgg agccgtgggg
      661 atgcccgccc tacccctgaa ttgctgtggt tccgagatgg ggtcctgttg gatggagcca
      721 ccttccatca gaccctgctg aaggaaggga cccctgggtc agtggagagc accttaaccc
      781 tgaccccttt cagccatgat gatggagcca cctttgtctg ccgggcccgg agccaggccc
      841 tgcccacagg aagagacaca gctatcacac tgagcctgca gtacccccca gaggtgactc
      901 tgtctgcttc gccacacact gtgcaggagg gagagaaggt cattttcctg tgccaggcca
      961 cagcccagcc tcctgtcaca ggctacaggt gggcaaaagg gggctctccg gtgctcgggg
     1021 cccgcgggcc aaggttagag gtcgtggcag acgcctcgtt cctgactgag cccgtgtcct
     1081 gcgaggtcag caacgccgtg ggtagcgcca accgcagtac tgcgctggat gtgctgtttg
     1141 ggccgattct gcaggcaaag ccggagcccg tgtccgtgga cgtgggggaa gacgcttcct
     1201 tcagctgcgc ctggcgcggg aacccgcttc cacgggtaac ctggacccgc cgcggtggcg
     1261 cgcaggtgct gggctctgga gccacactgc gtcttccgtc ggtggggccc gaggacgcag
     1321 gcgactatgt gtgcagagct gaggctgggc tatcgggcct gcggggcggc gccgcggagg
     1381 ctcggctgac tgtgaacgct cccccagtag tgaccgccct gcactctgcg cctgccttcc
     1441 tgaggggccc tgctcgcctc cagtgtctgg ttttcgcctc tcccgcccca gatgccgtgg
     1501 tctggtcttg ggatgagggc ttcctggagg cggggtcgca gggccggttc ctggtggaga
     1561 cattccctgc cccagagagc cgcgggggac tgggtccggg cctgatctct gtgctacaca
     1621 tttcggggac ccaggagtct gactttagca ggagctttaa ctgcagtgcc cggaaccggc
     1681 tgggcgaggg aggtgcccag gccagcctgg gccgtagaga cttgctgccc actgtgcgga
     1741 tagtggccgg agtggccgct gccaccacaa ctctccttat ggtcatcact ggggtggccc
     1801 tctgctgctg gcgccacagc aaggcctcag cctctttctc cgagcaaaag aacctgatgc
     1861 gaatccctgg cagcagcgac ggctccagtt cacgaggtcc tgaagaagag gagacaggca
     1921 gccgcgagga ccggggcccc attgtgcaca ctgaccacag tgatctggtt ctggaggagg
     1981 aagggactct ggagaccaag gacccaacca acggttacta caaggtccga ggagtcagtg
     2041 tgagcctgag ccttggcgaa gcccctggag gaggtctctt cctgccacca ccctcccccc
     2101 ttgggccccc agggacccct accttctatg acttcaaccc acacctgggc atggtccccc
     2161 cctgcagact ttacagagcc agggcaggct atctcaccac accccaccct cgagctttca
     2221 ccagctacat caaacccaca tcctttgggc ccccagatct ggcccccggg actcccccct
     2281 tcccatatgc tgccttcccc acacctagcc acccgcgtct ccagactcac gtgtgacatc
     2341 tttccaatgg aagagtcctg ggatctccaa cttgccataa tggattgttc tgatttctga
     2401 ggagccagga caagttggcg accttactcc tccaaaactg aacacaaggg gagggaaaga
     2461 tcattacatt tgtcaggagc atttgtatac agtcagctca gccaaaggag atgccccaag
     2521 tgggagcaac atggccaccc aatatgccca cctattcccc ggtgtaaaag agattcaaga
     2581 tggcaggtag gccctttgag gagagatggg gacagggcag tgggtgttgg gagtttgggg
     2641 ccgggatgga agttgtttct agccactgaa agaagatatt tcaagatgac catctgcatt
     2701 gagaggaaag gtagcatagg atagatgaag atgaagagca taccaggccc caccctggct
     2761 ctccctgagg ggaactttgc tcggccaatg gaaatgcagc caagatggcc atatactccc
     2821 taggaaccca agatggccac catcttgatt ttactttcct taaagactca gaaagacttg
     2881 gacccaagga gtggggatac agtgagaatt accactgttg gggcaaaata ttgggataaa
     2941 aatatttatg tttaataata aaaaaaagtc aaagaggcaa
//
