LOCUS       NM_001130012            2160 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens NHERF family PDZ scaffold protein 2 (NHERF2),
            transcript variant 1, mRNA.
ACCESSION   NM_001130012
VERSION     NM_001130012.3
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 2160)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2160)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 2160)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2160)
  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   5  (bases 1 to 2160)
  AUTHORS   Zizak,M., Lamprecht,G., Steplock,D., Tariq,N., Shenolikar,S.,
            Donowitz,M., Yun,C.H. and Weinman,E.J.
  TITLE     cAMP-induced phosphorylation and inhibition of Na(+)/H(+) exchanger
            3 (NHE3) are dependent on the presence but not the phosphorylation
            of NHE regulatory factor
  JOURNAL   J Biol Chem 274 (35), 24753-24758 (1999)
   PUBMED   10455146
REFERENCE   6  (bases 1 to 2160)
  AUTHORS   Imai,K., Sarker,A.H., Akiyama,K., Ikeda,S., Yao,M., Tsutsui,K.,
            Shohmori,T. and Seki,S.
  TITLE     Genomic structure and sequence of a human homologue (NTHL1/NTH1) of
            Escherichia coli endonuclease III with those of the adjacent parts
            of TSC2 and SLC9A3R2 genes
  JOURNAL   Gene 222 (2), 287-295 (1998)
   PUBMED   9831664
REFERENCE   7  (bases 1 to 2160)
  AUTHORS   Yun,C.H., Lamprecht,G., Forster,D.V. and Sidor,A.
  TITLE     NHE3 kinase A regulatory protein E3KARP binds the epithelial brush
            border Na+/H+ exchanger NHE3 and the cytoskeletal protein ezrin
  JOURNAL   J Biol Chem 273 (40), 25856-25863 (1998)
   PUBMED   9748260
REFERENCE   8  (bases 1 to 2160)
  AUTHORS   Hall,R.A., Ostedgaard,L.S., Premont,R.T., Blitzer,J.T., Rahman,N.,
            Welsh,M.J. and Lefkowitz,R.J.
  TITLE     A C-terminal motif found in the beta2-adrenergic receptor, P2Y1
            receptor and cystic fibrosis transmembrane conductance regulator
            determines binding to the Na+/H+ exchanger regulatory factor family
            of PDZ proteins
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8496-8501 (1998)
   PUBMED   9671706
REFERENCE   9  (bases 1 to 2160)
  AUTHORS   Yun,C.H., Oh,S., Zizak,M., Steplock,D., Tsao,S., Tse,C.M.,
            Weinman,E.J. and Donowitz,M.
  TITLE     cAMP-mediated inhibition of the epithelial brush border Na+/H+
            exchanger, NHE3, requires an associated regulatory protein
  JOURNAL   Proc Natl Acad Sci U S A 94 (7), 3010-3015 (1997)
   PUBMED   9096337
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1997 Sep 2;94(18):10006]
REFERENCE   10 (bases 1 to 2160)
  AUTHORS   Poulat,F., de Santa Barbara,P., Desclozeaux,M., Soullier,S.,
            Moniot,B., Bonneaud,N., Boizet,B. and Berta,P.
  TITLE     The human testis determining factor SRY binds a nuclear factor
            containing PDZ protein interaction domains
  JOURNAL   J Biol Chem 272 (11), 7167-7172 (1997)
   PUBMED   9054412
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC014513.1 and AC093513.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001130012.2.
            
            Summary: This gene encodes a member of the NHERF family of PDZ
            scaffolding proteins. These proteins mediate many cellular
            processes by binding to and regulating the membrane expression and
            protein-protein interactions of membrane receptors and transport
            proteins. The encoded protein plays a role in intestinal sodium
            absorption by regulating the activity of the sodium/hydrogen
            exchanger 3, and may also regulate the cystic fibrosis
            transmembrane regulator (CFTR) ion channel. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed
            for this gene. [provided by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC014513.1, AF004900.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000424542.7/ ENSP00000408005.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1543              BC014513.1         8-1550
            1544-2160           AC093513.3         52075-52691         c
FEATURES             Location/Qualifiers
     source          1..2160
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2160
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /note="NHERF family PDZ scaffold protein 2"
                     /db_xref="GeneID:9351"
                     /db_xref="HGNC:HGNC:11076"
                     /db_xref="MIM:606553"
     exon            1..317
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..1118
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /note="isoform a is encoded by transcript variant 1;
                     solute carrier family 9, subfamily A (NHE3, cation proton
                     antiporter 3), member 3 regulator 2; Na(+)/H(+) exchange
                     regulatory cofactor NHE-RF2; SRY-interacting protein 1;
                     tyrosine kinase activator protein 1; NHE3 kinase A
                     regulatory protein E3KARP; NHE3 regulatory factor 2;
                     SLC9A3 regulator 2; sodium/hydrogen exchanger 3 kinase A
                     regulatory protein; solute carrier family 9
                     (sodium/hydrogen exchanger), member 3 regulator 2;
                     Na(+)/H(+) exchange regulatory cofactor 2"
                     /codon_start=1
                     /product="Na(+)/H(+) exchange regulatory cofactor NHE-RF2
                     isoform a"
                     /protein_id="NP_001123484.1"
                     /db_xref="CCDS:CCDS45382.1"
                     /db_xref="GeneID:9351"
                     /db_xref="HGNC:HGNC:11076"
                     /db_xref="MIM:606553"
                     /translation="MAAPEPLRPRLCRLVRGEQGYGFHLHGEKGRRGQFIRRVEPGSP
                     AEAAALRAGDRLVEVNGVNVEGETHHQVVQRIKAVEGQTRLLVVDQETDEELRRRQLT
                     CTEEMAQRGLPPAHDPWEPKPDWAHTGSHSSEAGKKDVSGPLRELRPRLCHLRKGPQG
                     YGFNLHSDKSRPGQYIRSVDPGSPAARSGLRAQDRLIEVNGQNVEGLRHAEVVASIKA
                     REDEARLLVVDPETDEHFKRLRVTPTEEHVEGPLPSPVTNGTSPAQLNGGSACSSRSD
                     LPGSDKDTEDGSAWKQDPFQESGLHLSPTAAEAKEKARAMRVNKRAPQMDWNRKREIF
                     SNF"
     exon            318..518
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            519..698
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            699..852
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            853..896
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            897..959
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            960..2160
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1597..1602
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /note="hexamer: AACAAA"
     polyA_site      1616
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /note="major polyA site"
     regulatory      2139..2144
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /note="hexamer: GATAAA"
     polyA_site      2160
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
ORIGIN      
        1 gaacaggagc cgccgctgaa gccaccgccg ggtgcccagc gccgccgccg cccccgagct
       61 cccccgcgcc cctgcccgcg ggcggccggt gggcagcggg cgccatggcc gcgccggagc
      121 cgctgcggcc gcgcctgtgc cgcttggtgc gcggagagca gggctacggc ttccacctgc
      181 acggcgagaa gggccgccgc gggcagttca tccggcgcgt ggaacccggt tcccccgccg
      241 aggccgccgc gctgcgcgct ggggaccgcc tggtcgaggt caacggcgtc aacgtggagg
      301 gcgagacgca ccaccaggtg gtgcaaagga tcaaggctgt ggaggggcag actcggctgc
      361 tggtggtgga ccaggagaca gatgaggagc tccgccggcg gcagctgacc tgtaccgagg
      421 agatggccca gcgagggctc ccacccgccc acgacccctg ggagccgaag ccagactggg
      481 cacacaccgg cagccacagc tccgaagctg gcaagaagga tgtcagtggg cccctgaggg
      541 agctgcgccc tcggctctgc cacctgcgaa agggacctca gggctatggg ttcaacctgc
      601 atagtgacaa gtcccggccc ggccagtaca tccgctctgt ggacccgggc tcacctgccg
      661 cccgctctgg cctccgcgcc caggaccggc tcattgaggt gaacgggcag aatgtggagg
      721 gactgcgcca tgctgaggtg gtggccagca tcaaggcacg ggaggacgag gcccggctgc
      781 tggtcgtgga ccccgagaca gatgaacact tcaagcggct tcgggtcaca cccaccgagg
      841 agcacgtgga aggtcctctg ccgtcacccg tcaccaatgg aaccagccct gcccagctca
      901 atggtggctc tgcgtgctcg tcccgaagtg acctgcctgg ttccgacaag gacactgagg
      961 atggcagtgc ctggaagcaa gatcccttcc aggagagcgg cctccacctg agccccacgg
     1021 cggccgaggc caaggagaag gctcgagcca tgcgagtcaa caagcgcgcg ccacagatgg
     1081 actggaacag gaagcgtgaa atcttcagca acttctgagc cccttcctgc ctgtctcggg
     1141 accctgggac ccctcccgca cggaccttgg gcctcagcct gccccgagct cccccagcct
     1201 cagtggactg gagggtggtc ctgccattgc ccagaaatca gccccagccc cggtgagccc
     1261 ccatcctgcc cctgcccacc aggtactggg ggcctgtggc agcaagatag ggggagagag
     1321 acccagagat gtgagagaga gtcagagaca gagacagaga gagagagaga gagacacaga
     1381 gagagacaga gagagagcga gcgagcgcgc ggcagccgcg gggcgagggc ctttgctgct
     1441 ctgccggggc ctgctgactg aaaggaattt gtgtttttgc tttttttcca aaaagatctc
     1501 cagctccaca catgtttcca cttaatacca gagacccccc cccttcccct cccccttccc
     1561 ctcccccttg ggacgcgctc taaataattg caataaaaca aacctttctc tgcaaaccat
     1621 ttcctccccg ccccctcccc tcagcagcgg ccgtcctgag tgggagtccc tgggacttcc
     1681 cagtggccaa gttggggcgc ccagcctctt cgtggggacc ttgggtaagg ccagggaggc
     1741 ctgatgtggc cgtaggagct gcccctgccc acctgccctg gtgtgggggt ccctaggcca
     1801 caccctgctc cccacccagc taccctgtgc gcctgtgccc tgctgggggc ctgggctctc
     1861 cgaggggcct gaggatggag gccccacgtc cccgaggagg gcggcctctg gacaggcccc
     1921 tcattccgcg cggcagctcc caggcctggg gaacgtaggt gtgtgagagc ggcacccggg
     1981 aaggacgcct ggcctctggc tcagccctgc ttggcgggct cccccgtgga caccctgttg
     2041 actttgcact tccctcccgg gccccgcacc cccgaaccga ccaccgatcg accggcaccg
     2101 ctgttgcctc gtaagccata gcgcatgcgc gctctcagga taaacaggcc ctgcctggga
//
