LOCUS       NM_001011552            4215 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens solute carrier family 9 member A4 (SLC9A4), mRNA.
ACCESSION   NM_001011552
VERSION     NM_001011552.4
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 4215)
  AUTHORS   Grosche,S., Marenholz,I., Esparza-Gordillo,J., Arnau-Soler,A.,
            Pairo-Castineira,E., Ruschendorf,F., Ahluwalia,T.S., Almqvist,C.,
            Arnold,A., Baurecht,H., Bisgaard,H., Bonnelykke,K., Brown,S.J.,
            Bustamante,M., Curtin,J.A., Custovic,A., Dharmage,S.C.,
            Esplugues,A., Falchi,M., Fernandez-Orth,D., Ferreira,M.A.R.,
            Franke,A., Gerdes,S., Gieger,C., Hakonarson,H., Holt,P.G.,
            Homuth,G., Hubner,N., Hysi,P.G., Jarvelin,M.R., Karlsson,R.,
            Koppelman,G.H., Lau,S., Lutz,M., Magnusson,P.K.E., Marks,G.B.,
            Muller-Nurasyid,M., Nothen,M.M., Paternoster,L., Pennell,C.E.,
            Peters,A., Rawlik,K., Robertson,C.F., Rodriguez,E., Sebert,S.,
            Simpson,A., Sleiman,P.M.A., Standl,M., Stolzl,D., Strauch,K.,
            Szwajda,A., Tenesa,A., Thompson,P.J., Ullemar,V., Visconti,A.,
            Vonk,J.M., Wang,C.A., Weidinger,S., Wielscher,M., Worth,C.L.,
            Xu,C.J. and Lee,Y.A.
  CONSRTM   Australian Asthma Genetics Consortium (AAGC)
  TITLE     Rare variant analysis in eczema identifies exonic variants in
            DUSP1, NOTCH4 and SLC9A4
  JOURNAL   Nat Commun 12 (1), 6618 (2021)
   PUBMED   34785669
  REMARK    GeneRIF: Rare variant analysis in eczema identifies exonic variants
            in DUSP1, NOTCH4 and SLC9A4.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4215)
  AUTHORS   Ouellette,T.W., Wright,G.E., Drogemoller,B.I., Ross,C.J. and
            Carleton,B.C.
  TITLE     Integrating disease and drug-related phenotypes for improved
            identification of pharmacogenomic variants
  JOURNAL   Pharmacogenomics 22 (5), 251-261 (2021)
   PUBMED   33769074
  REMARK    GeneRIF: Integrating disease and drug-related phenotypes for
            improved identification of pharmacogenomic variants.
REFERENCE   3  (bases 1 to 4215)
  AUTHORS   Ho,J.E., Chen,W.Y., Chen,M.H., Larson,M.G., McCabe,E.L., Cheng,S.,
            Ghorbani,A., Coglianese,E., Emilsson,V., Johnson,A.D., Walter,S.,
            Franceschini,N., O'Donnell,C.J., Dehghan,A., Lu,C., Levy,D.,
            Newton-Cheh,C., Lin,H., Felix,J.F., Schreiter,E.R., Vasan,R.S.,
            Januzzi,J.L., Lee,R.T. and Wang,T.J.
  CONSRTM   CARDIoGRAM Consortium; CHARGE Inflammation Working Group; CHARGE
            Heart Failure Working Group
  TITLE     Common genetic variation at the IL1RL1 locus regulates IL-33/ST2
            signaling
  JOURNAL   J Clin Invest 123 (10), 4208-4218 (2013)
   PUBMED   23999434
REFERENCE   4  (bases 1 to 4215)
  AUTHORS   Arena,E.A., Longo,W.E., Roberts,K.E., Geibel,P., Nateqi,J.,
            Brandstetter,M. and Geibel,J.P.
  TITLE     Functional role of NHE4 as a pH regulator in rat and human colonic
            crypts
  JOURNAL   Am J Physiol Cell Physiol 302 (2), C412-C418 (2012)
   PUBMED   22049213
  REMARK    GeneRIF: Data demonstrate functional NHE4 activity in the rat and
            human colon and suggest that this exchanger is capable of
            modulating intracellular pH over a wide pH spectrum and may play an
            important role in maintaining cellular pH homeostasis.
REFERENCE   5  (bases 1 to 4215)
  AUTHORS   Okada,Y., Hirota,T., Kamatani,Y., Takahashi,A., Ohmiya,H.,
            Kumasaka,N., Higasa,K., Yamaguchi-Kabata,Y., Hosono,N., Nalls,M.A.,
            Chen,M.H., van Rooij,F.J., Smith,A.V., Tanaka,T., Couper,D.J.,
            Zakai,N.A., Ferrucci,L., Longo,D.L., Hernandez,D.G., Witteman,J.C.,
            Harris,T.B., O'Donnell,C.J., Ganesh,S.K., Matsuda,K., Tsunoda,T.,
            Tanaka,T., Kubo,M., Nakamura,Y., Tamari,M., Yamamoto,K. and
            Kamatani,N.
  TITLE     Identification of nine novel loci associated with white blood cell
            subtypes in a Japanese population
  JOURNAL   PLoS Genet 7 (6), e1002067 (2011)
   PUBMED   21738478
REFERENCE   6  (bases 1 to 4215)
  AUTHORS   Hunt,K.A., Zhernakova,A., Turner,G., Heap,G.A., Franke,L.,
            Bruinenberg,M., Romanos,J., Dinesen,L.C., Ryan,A.W., Panesar,D.,
            Gwilliam,R., Takeuchi,F., McLaren,W.M., Holmes,G.K., Howdle,P.D.,
            Walters,J.R., Sanders,D.S., Playford,R.J., Trynka,G., Mulder,C.J.,
            Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M., O'Morain,C.,
            Kennedy,N.P., Kelleher,D., Pennington,D.J., Strachan,D.P.,
            McArdle,W.L., Mein,C.A., Wapenaar,M.C., Deloukas,P., McGinnis,R.,
            McManus,R., Wijmenga,C. and van Heel,D.A.
  TITLE     Newly identified genetic risk variants for celiac disease related
            to the immune response
  JOURNAL   Nat Genet 40 (4), 395-402 (2008)
   PUBMED   18311140
REFERENCE   7  (bases 1 to 4215)
  AUTHORS   Beltran,A.R., Ramirez,M.A., Carraro-Lacroix,L.R., Hiraki,Y.,
            Reboucas,N.A. and Malnic,G.
  TITLE     NHE1, NHE2, and NHE4 contribute to regulation of cell pH in T84
            colon cancer cells
  JOURNAL   Pflugers Arch 455 (5), 799-810 (2008)
   PUBMED   17943310
  REMARK    GeneRIF: T84 human colon cells contain three isoforms of the Na+/H+
            exchanger, NHE1, NHE2, and NHE4, but not the Cl-dependent NHE
REFERENCE   8  (bases 1 to 4215)
  AUTHORS   Inoue,H., Nakamura,Y., Nagita,M., Takai,T., Masuda,M., Nakamura,N.
            and Kanazawa,H.
  TITLE     Calcineurin homologous protein isoform 2 (CHP2), Na+/H+
            exchangers-binding protein, is expressed in intestinal epithelium
  JOURNAL   Biol Pharm Bull 26 (2), 148-155 (2003)
   PUBMED   12576672
REFERENCE   9  (bases 1 to 4215)
  AUTHORS   Szpirer,C., Szpirer,J., Riviere,M., Levan,G. and Orlowski,J.
  TITLE     Chromosomal assignment of four genes encoding Na/H exchanger
            isoforms in human and rat
  JOURNAL   Mamm Genome 5 (3), 153-159 (1994)
   PUBMED   8199403
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007278.4, CR627411.1, DA442134.1 and AL833048.1.
            
            On May 17, 2019 this sequence version replaced NM_001011552.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR627411.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295269.5/ ENSP00000295269.4
            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
            1-77                AC007278.4         44650-44726
            78-442              CR627411.1         2-366
            443-622             DA442134.1         387-566
            623-1819            CR627411.1         547-1743
            1820-1820           AC007278.4         79590-79590
            1821-1898           CR627411.1         1745-1822
            1899-1899           AC007278.4         79669-79669
            1900-2883           CR627411.1         1824-2807
            2884-2884           AC007278.4         104065-104065
            2885-2945           CR627411.1         2809-2869
            2946-2946           AC007278.4         104127-104127
            2947-2965           CR627411.1         2871-2889
            2966-2966           AC007278.4         104147-104147
            2967-3481           CR627411.1         2891-3405
            3482-3482           AC007278.4         104663-104663
            3483-3987           CR627411.1         3407-3911
            3988-3988           AC007278.4         105169-105169
            3989-4089           CR627411.1         3913-4013
            4090-4090           AC007278.4         105271-105271
            4091-4215           AL833048.1         1537-1661
FEATURES             Location/Qualifiers
     source          1..4215
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q12.1"
     gene            1..4215
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="solute carrier family 9 member A4"
                     /db_xref="GeneID:389015"
                     /db_xref="HGNC:HGNC:11077"
                     /db_xref="MIM:600531"
     exon            1..790
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="alignment:Splign:2.1.0"
     CDS             535..2931
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="solute carrier family 9, subfamily A (NHE4, cation
                     proton antiporter 4), member 4; solute carrier family 9
                     member 4; sodium/hydrogen exchanger 4; NHE-4; Na(+)/H(+)
                     exchanger 4; solute carrier family 9 (sodium/hydrogen
                     exchanger), member 4"
                     /codon_start=1
                     /product="sodium/hydrogen exchanger 4 precursor"
                     /protein_id="NP_001011552.2"
                     /db_xref="CCDS:CCDS33264.1"
                     /db_xref="GeneID:389015"
                     /db_xref="HGNC:HGNC:11077"
                     /db_xref="MIM:600531"
                     /translation="MALQMFVTYSPWNCLLLLVALECSEASSDLNESANSTAQYASNA
                     WFAAASSEPEEGISVFELDYDYVQIPYEVTLWILLASLAKIGFHLYHRLPGLMPESCL
                     LILVGALVGGIIFGTDHKSPPVMDSSIYFLYLLPPIVLEGGYFMPTRPFFENIGSILW
                     WAVLGALINALGIGLSLYLICQVKAFGLGDVNLLQNLLFGSLISAVDPVAVLAVFEEA
                     RVNEQLYMMIFGEALLNDGITVVLYNMLIAFTKMHKFEDIETVDILAGCARFIVVGLG
                     GVLFGIVFGFISAFITRFTQNISAIEPLIVFMFSYLSYLAAETLYLSGILAITACAVT
                     MKKYVEENVSQTSYTTIKYFMKMLSSVSETLIFIFMGVSTVGKNHEWNWAFICFTLAF
                     CQIWRAISVFALFYISNQFRTFPFSIKDQCIIFYSGVRGAGSFSLAFLLPLSLFPRKK
                     MFVTATLVVIYFTVFIQGITVGPLVRYLDVKKTNKKESINEELHIRLMDHLKAGIEDV
                     CGHWSHYQVRDKFKKFDHRYLRKILIRKNLPKSSIVSLYKKLEMKQAIEMVETGILSS
                     TAFSIPHQAQRIQGIKRLSPEDVESIRDILTSNMYQVRQRTLSYNKYNLKPQTSEKQA
                     KEILIRRQNTLRESMRKGHSLPWGKPAGTKNIRYLSYPYGNPQSAGRDTRAAGFSDDD
                     SSDPGSPSITFSACSRIGSLQKQEAQEIIPMKSLHRGRKAFSFGYQRNTSQEEYLGGV
                     RRVALRPKPLFHAVDEEGESGGESEGKASLVEVRSRWTADHGHGRDHHRSHSPLLQKK
                     "
     exon            791..1254
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1514
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1515..1732
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1733..1935
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..2022
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="alignment:Splign:2.1.0"
     exon            2023..2093
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="alignment:Splign:2.1.0"
     exon            2094..2255
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="alignment:Splign:2.1.0"
     exon            2256..2352
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="alignment:Splign:2.1.0"
     exon            2353..2484
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="alignment:Splign:2.1.0"
     exon            2485..2572
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="alignment:Splign:2.1.0"
     exon            2573..4215
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 attcaaaaca aatgagagga cagggggagg agagaaggaa caagcgcaga tcaggtagct
       61 ccttcttggg atctgataga cagggaaggt ttcctttcct cattagaagg actccagtga
      121 tctgtggaat gagcactaca gtatcctttt aaattttcac ccacaagaca aagccagtat
      181 gcagtgaaat gaggaaatgc ctttaagtga agagattttt atttctttca taaattgctc
      241 aagccatgat tggatggagg tcctccaggt agctccatgg actttaacaa gtctattgaa
      301 taactgcatt tgagttggaa gctgagttgc ctgaacacaa acgatttaaa ccagattaga
      361 aagtgtctac atacagagct caataacaca ctcggaatct tcttgggagg acccacagac
      421 tgtacctata ttacttttga cccaggtgga tgcagtcact ctctagaagc ctccccgact
      481 tcagatgtgt ggcacacatc cacacagggg tgtaggtagg agaagcccac aggaatggct
      541 ctgcagatgt tcgtgactta cagtccttgg aattgtttgc tactgctagt ggctcttgag
      601 tgttctgaag catcttctga tttgaatgaa tctgcaaatt ccactgctca gtatgcatct
      661 aacgcttggt ttgctgctgc cagctcagag ccagaggaag ggatatctgt ttttgaactg
      721 gattatgact atgtgcaaat tccttatgag gtcactctct ggatacttct agcatccctt
      781 gcaaaaatag gcttccacct ctaccacagg ctgccaggcc tcatgccaga aagctgcctc
      841 ctcatcctgg tgggggcgct ggtgggcggc atcatcttcg gcaccgacca caaatcgcct
      901 ccggtcatgg actccagcat ctacttcctg tatctcctgc cacccatcgt tctggagggc
      961 ggctacttca tgcccacccg gcccttcttt gagaacatcg gctccatcct gtggtgggca
     1021 gtattggggg ccctgatcaa cgccttgggc attggcctct ccctctacct catctgccag
     1081 gtgaaggcct ttggcctggg cgacgtcaac ctgctgcaga acctgctgtt cggcagcctg
     1141 atctccgccg tggacccagt ggccgtgcta gccgtgtttg aggaagcgcg cgtgaacgag
     1201 cagctctaca tgatgatctt tggggaggcc ctgctcaatg atggcattac tgtggtctta
     1261 tacaatatgt taattgcctt tacaaagatg cataaatttg aagacataga aactgtcgac
     1321 attttggctg gatgtgcccg attcatcgtt gtggggcttg gaggggtatt gtttggcatc
     1381 gtttttggat ttatttctgc atttatcaca cgtttcactc agaatatctc tgcaattgag
     1441 ccactcatcg tcttcatgtt cagctatttg tcttacttag ctgctgaaac cctctatctc
     1501 tccggcatcc tggcaatcac agcctgcgca gtaacaatga aaaagtacgt ggaagaaaac
     1561 gtgtcccaga catcatacac gaccatcaag tacttcatga agatgctgag cagcgtcagc
     1621 gagaccttga tcttcatctt catgggtgtg tccactgtgg gcaagaatca cgagtggaac
     1681 tgggccttca tctgcttcac cctggccttc tgccaaatct ggagagccat cagcgtattt
     1741 gctctcttct atatcagtaa ccagtttcgg actttcccct tctccatcaa ggaccagtgc
     1801 atcattttct acagtggtgt tcgaggagct ggaagttttt cacttgcatt tttgcttcct
     1861 ctgtctcttt ttcctaggaa gaaaatgttt gtcactgcta ctctagtagt tatatacttt
     1921 actgtattta ttcagggaat cacagttggc cctctggtca ggtacctgga tgttaaaaaa
     1981 accaataaaa aagaatccat caatgaagag cttcatattc gtctgatgga tcacttaaag
     2041 gctggaatcg aagatgtgtg tgggcactgg agtcactacc aagtgagaga caagtttaag
     2101 aagtttgatc atagatactt acggaaaatc ctcatcagaa agaacctacc caaatcaagc
     2161 attgtttctt tgtacaagaa gctggaaatg aagcaagcca tcgagatggt ggagactggg
     2221 atactgagct ctacagcttt ctccataccc catcaggccc agaggataca aggaatcaaa
     2281 agactttccc ctgaagatgt ggagtccata agggacattc tgacatccaa catgtaccaa
     2341 gttcggcaaa ggaccctgtc ctacaacaaa tacaacctca aaccccaaac aagtgagaag
     2401 caggctaaag agattctgat ccgccgccag aacaccttaa gggagagcat gaggaaaggt
     2461 cacagcctgc cctggggaaa gccggctggc accaagaata tccgctacct ctcctacccc
     2521 tacgggaatc ctcagtctgc aggaagagac acaagggctg ctgggttctc agatgatgac
     2581 agcagtgatc caggatcccc atccatcacg ttcagcgcat gctctcggat agggtcactt
     2641 cagaagcaag aggcacaaga aataatacca atgaagagcc tacacagagg aaggaaggca
     2701 ttcagctttg gttatcaaag aaacacaagc caagaagagt acttgggtgg agtaaggagg
     2761 gtggccttaa gacccaaacc tctgtttcat gcagtggatg aggagggtga gtctggaggg
     2821 gagagtgagg gcaaggcctc tttggttgag gttcggtcga ggtggacagc tgaccatgga
     2881 cacggcaggg accatcacag gtcccatagt cctttgctcc aaaaaaaata gtgttattgt
     2941 ccacaagatt gttttggtgt ttctcaagag tctgtcttcc tataactgtg aaaggaggat
     3001 ttctggaatt cagaagagag ctattgagtt tgctgtgttg aagctattaa acatggatct
     3061 ataagcagca ggaagatttt ttccaaggac tgggagcaaa cttgcaggct ctgccatgta
     3121 cttattgtgg ggtaccttta gatgaattcc ctgtgagtga gagaagttga tcaccccagg
     3181 aattagtcac taagaattcc taagaacttt ctatcaaaag cattggatcc aagccatata
     3241 ttgaaataca agcgtgatta atcagtaatt cacattgccg atatgcatat gcaacttata
     3301 atcaaataga actagaagag actttgaagt cacctgactc agccccttgt gtttacagac
     3361 aaggacatgt agtccaaggt tgcatggtga gttcacagtc ggattgtcct ccctccaaac
     3421 tgaaactaat ttgattttga tttcatattc aatatgcaat aattatgttc tatcagagat
     3481 aaaatttgtt atgaatttgc tttatttaat cagtagcaat gatagatgtg atgcatacta
     3541 taggattaat ctgtgaacaa tgggtttacg gtctatttca taattgaaat atttatttta
     3601 aaaatgaata ttagaaacaa aacagccata aacagagttt aatagcaatg atgttaacaa
     3661 caagtattta taaggggtgc atttgtaggg tgtgacattt taccctaggg tataaaacta
     3721 tttttctttt attattatta ttattattat tatactttaa gttttagggt acatgtgcac
     3781 attgtgcagg ttagttacat atgtatacat gtgccatgct ggtgtgctgc acccgctaac
     3841 tcgtcatcta gcattaggtg tatctcccaa tgctatccct cccccctccc cccaccccac
     3901 aacagtcccc agagtgtgat gttccccttc ctgtgtccat gtgatctcat tgttcaattc
     3961 ccacctatga gtgagaatat gcggtgtttg gttttttgtt cttgggatag tttactgaga
     4021 atgatgattt ccaatttcat ccatgtccct acaaaggaca tgaactcatc attttttatg
     4081 gctgcatggt attccatggt gtatatgtgc cacattttct taatccagtc tatcattgtt
     4141 ggacatttgg gttggttcca agtctttgct attgtgaata atgccgcaat aaacatacgt
     4201 gtgcatgtgt cttta
//
