LOCUS       NM_152388               5316 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens transmembrane protein 237 (TMEM237), transcript
            variant 2, mRNA.
ACCESSION   NM_152388
VERSION     NM_152388.4
KEYWORDS    RefSeq.
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 5316)
  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 5316)
  AUTHORS   Lim,S.H., Snider,J., Birimberg-Schwartz,L., Ip,W., Serralha,J.C.,
            Botelho,H.M., Lopes-Pacheco,M., Pinto,M.C., Moutaoufik,M.T.,
            Zilocchi,M., Laselva,O., Esmaeili,M., Kotlyar,M., Lyakisheva,A.,
            Tang,P., Lopez Vazquez,L., Akula,I., Aboualizadeh,F., Wong,V.,
            Grozavu,I., Opacak-Bernardi,T., Yao,Z., Mendoza,M., Babu,M.,
            Jurisica,I., Gonska,T., Bear,C.E., Amaral,M.D. and Stagljar,I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   3  (bases 1 to 5316)
  AUTHORS   Skiba,N.P., Cady,M.A., Molday,L., Han,J.Y.S., Lewis,T.R.,
            Spencer,W.J., Thompson,W.J., Hiles,S., Philp,N.J., Molday,R.S. and
            Arshavsky,V.Y.
  TITLE     TMEM67, TMEM237, and Embigin in Complex With Monocarboxylate
            Transporter MCT1 Are Unique Components of the Photoreceptor Outer
            Segment Plasma Membrane
  JOURNAL   Mol Cell Proteomics 20, 100088 (2021)
   PUBMED   33933680
REFERENCE   4  (bases 1 to 5316)
  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 5316)
  AUTHORS   Zuniga,F.I. and Craft,C.M.
  TITLE     Deciphering the structure and function of Als2cr4 in the mouse
            retina
  JOURNAL   Invest Ophthalmol Vis Sci 51 (9), 4407-4415 (2010)
   PUBMED   20375344
REFERENCE   6  (bases 1 to 5316)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (bases 1 to 5316)
  AUTHORS   Satoh,J., Obayashi,S., Misawa,T., Sumiyoshi,K., Oosumi,K. and
            Tabunoki,H.
  TITLE     Protein microarray analysis identifies human cellular prion protein
            interactors
  JOURNAL   Neuropathol Appl Neurobiol 35 (1), 16-35 (2009)
   PUBMED   18482256
REFERENCE   8  (bases 1 to 5316)
  AUTHORS   Hadano,S., Hand,C.K., Osuga,H., Yanagisawa,Y., Otomo,A.,
            Devon,R.S., Miyamoto,N., Showguchi-Miyata,J., Okada,Y.,
            Singaraja,R., Figlewicz,D.A., Kwiatkowski,T., Hosler,B.A.,
            Sagie,T., Skaug,J., Nasir,J., Brown,R.H. Jr., Scherer,S.W.,
            Rouleau,G.A., Hayden,M.R. and Ikeda,J.E.
  TITLE     A gene encoding a putative GTPase regulator is mutated in familial
            amyotrophic lateral sclerosis 2
  JOURNAL   Nat Genet 29 (2), 166-173 (2001)
   PUBMED   11586298
REFERENCE   9  (bases 1 to 5316)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (bases 1 to 5316)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007279.4, AB053301.1 and
            AC007282.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 31, 2019 this sequence version replaced NM_152388.3.
            
            Summary: The protein encoded by this gene is a tetraspanin protein
            that is thought to be involved in WNT signaling. Defects in this
            gene are a cause of Joubert syndrome-14. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jan 2012].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (b)
            has a shorter and distinct N-terminus compared to isoform 1.
            
            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 :: SRR1803613.28051.1,
                                           SRR1803612.14418.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AC007279.4         122911-122930
            21-1802             AB053301.1         297-2078
            1803-5316           AC007282.4         3812-7325
FEATURES             Location/Qualifiers
     source          1..5316
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..5316
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="transmembrane protein 237"
                     /db_xref="GeneID:65062"
                     /db_xref="HGNC:HGNC:14432"
                     /db_xref="MIM:614423"
     exon            1..62
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     CDS             45..1247
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="isoform b is encoded by transcript variant 2;
                     amyotrophic lateral sclerosis 2 (juvenile) chromosome
                     region, candidate 4; amyotrophic lateral sclerosis 2
                     chromosomal region candidate gene 4 protein"
                     /codon_start=1
                     /product="transmembrane protein 237 isoform b"
                     /protein_id="NP_689601.2"
                     /db_xref="CCDS:CCDS46490.1"
                     /db_xref="GeneID:65062"
                     /db_xref="HGNC:HGNC:14432"
                     /db_xref="MIM:614423"
                     /translation="MGKNPVRPPRALPPVPSQDDIPLSRPKKKKPRTKNTPASASLEG
                     LAQTAGRRPSEGNEPSTKELKEHPEAPVQRRQKKTRLPLELETSSTQKKSSSSSLLRN
                     ENGIDAEPAEEAVIQKPRRKTKKTQPAELQYANELGVEDEDIITDEQTTVEQQSVFTA
                     PTGISQPVGKVFVEKSRRFQAADRSELIKTTENIDVSMDVKPSWTTRDVALTVHRAFR
                     MIGLFSHGFLAGCAVWNIVVIYVLAGDQLSNLSNLLQQYKTLAYPFQSLLYLLLALST
                     ISAFDRIDFAKISVAIRNFLALDPTALASFLYFTALILSLSQQMTSDRIHLYTPSSVN
                     GSLWEAGIEEQILQPWIVVNLVVALLVGLSWLFLSYRPGMDLSEELMFSSEVEEYPDK
                     EKEIKASS"
     exon            63..94
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     exon            95..99
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     exon            100..156
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     exon            157..294
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     exon            295..415
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     exon            416..573
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     exon            574..697
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     exon            698..889
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     exon            890..963
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1057
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1179
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..5316
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1668..1673
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="hexamer: AATAAA"
     polyA_site      1702
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="major polyA site"
     regulatory      1775..1780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="hexamer: AATAAA"
     polyA_site      1807
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
     regulatory      5294..5299
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="hexamer: AATAAA"
     polyA_site      5316
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="major polyA site"
ORIGIN      
        1 aggtgcttgg gggccggcgg ccgccgaggc cggctaaacg cagaatgggg aagaatcctg
       61 tgcgtcctcc acgagctctt ccacctgtgc caagtcaaga tgatattcca cttagtcgtc
      121 ctaagaaaaa gaagcccaga acaaaaaaca caccagcaag tgcttctttg gaaggccttg
      181 ctcagactgc tggtcgaagg ccctctgagg gcaatgagcc atcaactaaa gaactcaaag
      241 agcacccaga ggctcctgtt caaagaagac agaaaaagac aaggctacct cttgaattgg
      301 agacttcctc cacccaaaag aagtcatcta gttcatcttt attacgaaat gaaaatggta
      361 ttgatgcgga gccagctgag gaggcagtta ttcaaaaacc tcggaggaag acaaagaaaa
      421 cccagccagc agaattacag tatgccaatg agctaggagt agaagatgaa gacataatca
      481 ctgatgagca aactactgtg gaacagcagt ctgtattcac tgcacccact ggcattagcc
      541 agcctgtagg caaagtattt gtggaaaaaa gccggagatt ccaggctgct gatcgttcag
      601 agttgataaa gaccacagaa aacatagatg tgtcaatgga cgtgaagcct tcctggacca
      661 ccagagatgt ggcacttaca gtgcaccggg ctttcaggat gattggtctc ttttctcatg
      721 gattcttggc tggctgtgct gtgtggaata ttgttgtgat atatgttcta gcaggagatc
      781 agctatccaa cctctcaaac cttctgcaac aatacaagac cctagcgtat ccattccaga
      841 gtcttctgta cttgcttttg gctctgagta caatttcagc ttttgacagg attgactttg
      901 ctaaaatatc agtagcaatc cgaaattttt tggccctgga tcctacagct ttagcatctt
      961 tcttgtactt tactgctctt atactatctc tgagtcagca aatgacaagt gacagaatcc
     1021 acctttacac accttcttct gttaatggta gcctctggga agcaggaatt gaggaacaga
     1081 ttctccagcc atggattgtg gtgaatctcg tggtggctct tctggttgga ttatcttggc
     1141 tatttttgtc ttataggcca ggcatggatc ttagtgaaga gttaatgttc tcctcagagg
     1201 tggaagaata tcctgataaa gagaaagaaa tcaaagcctc ttcataatac cagctcacct
     1261 ttggaggaat aatgacccag tatttgtccc atttttgttt ttaaatgtat ttttataaga
     1321 tgtatacatg tgtatttgta atagattttt tgattatata atactgaaac atctctcaat
     1381 attatgaaaa atgttaaaat tgtgtttgct gtttatgtct aaacattaat ttgtctagca
     1441 ttatcatctt aatgacaaag ggaataatga actagaaacc agcaagtgaa agtgtttatt
     1501 tcctattttc tcaaaacagt tgtatttata actattacct taaaaagcac tggtttagaa
     1561 aaagccataa cttaaatagt gttataaaat atatatcagg tttaaacata aatttagcga
     1621 atatggtaga agggaaaaaa gccttcattt ttgacctccc cttactgaat aaattgaaat
     1681 atgaagtttg tcttttctga aactggctta gtgattgagt atcatgtaat aattataata
     1741 taatttagct tgaaagatgc tctacattat gaccaataaa aagggaatgt atgttttgtt
     1801 tgaaaaatta tataacctaa attttttacc tagaagtaac taaaaagttg cttctcatta
     1861 taatctgtac tagtggttct catatctggt tgtacatcag gatcatagag ggagatttta
     1921 aaaatctatg tagcaaaaga ggctgagcag ggcaaggctc aggggaataa aggagagacc
     1981 tgtgagcttg tgggctccca gttgacatct gcagtaccct ttcctctgtc ccttttttct
     2041 gagtgacaag aaataggagt agaaattcac catctctgtt ctccagctct ttgtcagaga
     2101 ggtttctggt tttccaggaa atccccctct tgagatgggt cctgcactgg gaaagatctc
     2161 ttcagaacta tatccaatgg tacctcagct gttgtatatg agaccctaaa gctcaagttg
     2221 aggagaagac tagctatggg aaaaaatgtt tcaaaggctg ttgagcacat caataaaact
     2281 attgagcctg ccctgattag caagcacctg aatgttatag aacagaagag gattgacaaa
     2341 ttgatgatag agacagttga ccctgacaat aggtctaaat ttggagtgaa cattatactg
     2401 ggaatctctt ttgctgtttg taaggctgga gctgccgaaa agggattctc cctgctgtca
     2461 cagaattgtg aatttgctgg caattctgaa ggcatcctgc tagttccagc tttcactgtg
     2521 accagcaatg gttctcaatc tggcaataag ctggcagtat aggagttcat aatcttcccc
     2581 gtcagcaaac ttcagggaag ccatgctcgt tagagccaag gcttagcaca cttgagccgt
     2641 gtcatcaaag agaaatgtga gaaagctgct gccaatgtgg gggattgtgg taggctgcat
     2701 aatgtctcct aaagatgtcc atgtcctaat ccctggaact tgtgaatata ctactttact
     2761 tggccaaagg gatttgcaga tatgattaag gttatgaacc ttaaaacggg gacattatcc
     2821 tgtattatcc agaagggtcc agtgtaatct tatgagtcct taaaagcaga gaagaaagcc
     2881 ttttatgtct gtggtcagag aggtcagaag ttatgatatt gctggctttg aagatggaag
     2941 agggggccat gagccaagga gagtgatgac cttgcagctg agtacggccc ttggccaaca
     3001 atgagcaagg aaatggattt cagtcacata accacaagga actgagttct atgagtatcc
     3061 caaatgagca aggaaacaaa tcctccccta gagccaagaa aggaaggcag ctctgtggat
     3121 accttggttt tggcctggtg ctgcccatgt catacttttg acatacagaa ctgtaagata
     3181 gcaagtgtat gttgactaag ctgctaaatt ggtggtgatt gcttatggca gcaatagaaa
     3241 gctatatatc ctagagaata aagaaggcta gagctgctgt ggaatgcact tgggaaagct
     3301 ggctacattg ataatatgta actgccatgg gcatagttgc ctttgtattc ttccaggtct
     3361 gggaagtaca acttagactt cagatctcgt aatgacccag gaggcatata aacctgagca
     3421 gctagtggcc ctgtacaagt ccttcatcag ggaaaaacat tgagtattcc ctgattaagg
     3481 acttgtacag aggactctgt tttccctggt gtttctggtg tgtctcaaaa attgtttgac
     3541 tgtgatgaca gggaagtttg gaagaagttc actgctaatg catgtctcca ggaagcaggg
     3601 aatgatctca cagtgacact tgaggcacat tgctgaggcc gtcgatgaga attcatgtaa
     3661 ctttctccag cttacagtgg actagattga catgcaagct gatccagtcc aattggtagg
     3721 gcatcatggt ttctcattac tcactgactt aaaatacttt tattgccatc ctggtgaagc
     3781 actgcactgg gtagataaca caggggcacc ttgctgatca gagcccttgg ccaggtacaa
     3841 agagctcagt ttctaaaact ctgtcatttc aataatgtta taaattgaat catacagtat
     3901 gtaattttat gggattcgct ttttttctgt tgatctcttt ttttctgagt catctcagct
     3961 gttgtgtgta tcaatagttc atttcctttt actgttttgt ttggtttaac tcattgacct
     4021 attgaaggat atctgggctc attccagtct gtgaataatg ctgctgtgga cattcatgtg
     4081 caagtttttg tgtgaacatt aagttttcat ttctttaaga taaatgccca ggagtgaaac
     4141 tgatgggttg tatgtagtta caaactgcca agctgttttc cagagttggc ggtaccattc
     4201 taatttccca tgacaatttt ttgaagagtc caagctagtt gctttagagt gcctcaccta
     4261 cattttttaa ttgtctgact ttttcctaat gacatcactt aatttgttcc tcaatctcct
     4321 gaatttccta tagactggag gttaggtctg gtggtttgat tagatttttt aaaaaaatat
     4381 gacttcatct gtgatgctgt gtactttatg ttgcataaca tgaaccctaa gaacagagtg
     4441 agctgctgga cagcaagttt catggggtgc agtaattaac acaccacata gtataaatct
     4501 gaaataatga caaatgtgtt aagggccttg ggatattggg ccatgtactc tgaggagcac
     4561 aaggtgaggt gcaggttcct gcccctaaag aactctatct tttgagatta gcaactaaca
     4621 gtgtgagccc actaatagga tgtgaaagtt gtcaaaatca agttctggtc attgtgttaa
     4681 aaatcctaac aaatagagct ggggaaggcc gtgaaaggac gattttcatg cacagatgtc
     4741 tgataatgag gactatcatt aaaagactgc acaaaaccac accttgcaca aaggccatca
     4801 caacctgaca cacacaaaaa atacttctat gaggacattt gcccagcaac tccctgtcca
     4861 atgtccaact ggcaacatcc ttgttattga tccttgtagc caaggataat tctctcaaaa
     4921 caatcatttt tgctttaaaa accgttgtct tccttgacct ccctgtatat gcacatagtt
     4981 tactgtggca cttgtattct tattgcaatg cctactcctg aataaacatc attttctttc
     5041 agagagtctc cctctctgtt atttaggctg acaaggatat gccaagaagt agcttggata
     5101 tagcagttaa ctctgccttt aggatatgtg tatggggata taagagttaa ctaaaagctg
     5161 acctttgagt tggtccttga ataaaagaag aatagattcc aaaaataaga ggaataaata
     5221 atgatcctga gctaggagag tacattttgc agacctttgg tttccatatt aagaaattca
     5281 gatttttatg tacaataaag aagttctgga attctc
//
