LOCUS       NM_172095               4009 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens cation channel sperm associated 2 (CATSPER2),
            transcript variant 2, mRNA.
ACCESSION   NM_172095
VERSION     NM_172095.4
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 4009)
  AUTHORS   Peart,L., Gonzalez,J., Morel Swols,D., Duman,D., Saridogan,T.,
            Ramzan,M., Zafeer,M.F., Liu,X.Z., Eshraghi,A.A., Hoffer,M.E.,
            Angeli,S.I., Bademci,G., Blanton,S., Smith,C., Telischi,F.F. and
            Tekin,M.
  TITLE     Dispersed DNA variants underlie hearing loss in South Florida's
            minority population
  JOURNAL   Hum Genomics 17 (1), 103 (2023)
   PUBMED   37996878
  REMARK    GeneRIF: Dispersed DNA variants underlie hearing loss in South
            Florida's minority population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4009)
  AUTHORS   Nishio,S.Y. and Usami,S.I.
  TITLE     Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing
            loss patients
  JOURNAL   Sci Rep 12 (1), 634 (2022)
   PUBMED   35022556
  REMARK    GeneRIF: Frequency of the STRC-CATSPER2 deletion in STRC-associated
            hearing loss patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4009)
  AUTHORS   Luo,T., Chen,H.Y., Zou,Q.X., Wang,T., Cheng,Y.M., Wang,H.F.,
            Wang,F., Jin,Z.L., Chen,Y., Weng,S.Q. and Zeng,X.H.
  TITLE     A novel copy number variation in CATSPER2 causes idiopathic male
            infertility with normal semen parameters
  JOURNAL   Hum Reprod 34 (3), 414-423 (2019)
   PUBMED   30629171
  REMARK    GeneRIF: disruption of CATSPER2 current is a significant factor
            causing idiopathic male infertility; the specific copy number
            variation disrupts one gene copy in the region 43894500-43950000 in
            chromosome 15
REFERENCE   4  (bases 1 to 4009)
  AUTHORS   Karger,L., Khan,W.A., Calabio,R., Singh,R., Xiang,B., Babu,A.,
            Cohen,N., Yang,A.C. and Scott,S.A.
  TITLE     Maternal uniparental disomy of chromosome 15 and concomitant STRC
            and CATSPER2 deletion-mediated deafness-infertility syndrome
  JOURNAL   Am J Med Genet A 173 (5), 1436-1439 (2017)
   PUBMED   28317263
REFERENCE   5  (bases 1 to 4009)
  AUTHORS   Quill,T.A., Sugden,S.A., Rossi,K.L., Doolittle,L.K., Hammer,R.E.
            and Garbers,D.L.
  TITLE     Hyperactivated sperm motility driven by CatSper2 is required for
            fertilization
  JOURNAL   Proc Natl Acad Sci U S A 100 (25), 14869-14874 (2003)
   PUBMED   14657366
REFERENCE   6  (bases 1 to 4009)
  AUTHORS   Avidan,N., Tamary,H., Dgany,O., Cattan,D., Pariente,A.,
            Thulliez,M., Borot,N., Moati,L., Barthelme,A., Shalmon,L.,
            Krasnov,T., Ben-Asher,E., Olender,T., Khen,M., Yaniv,I., Zaizov,R.,
            Shalev,H., Delaunay,J., Fellous,M., Lancet,D. and Beckmann,J.S.
  TITLE     CATSPER2, a human autosomal nonsyndromic male infertility gene
  JOURNAL   Eur J Hum Genet 11 (7), 497-502 (2003)
   PUBMED   12825070
REFERENCE   7  (bases 1 to 4009)
  AUTHORS   Quill,T.A., Ren,D., Clapham,D.E. and Garbers,D.L.
  TITLE     A voltage-gated ion channel expressed specifically in spermatozoa
  JOURNAL   Proc Natl Acad Sci U S A 98 (22), 12527-12531 (2001)
   PUBMED   11675491
REFERENCE   8  (bases 1 to 4009)
  AUTHORS   Garbers,D.L.
  TITLE     Ion channels. Swimming with sperm
  JOURNAL   Nature 413 (6856), 579 (2001)
   PUBMED   11595929
REFERENCE   9  (bases 1 to 4009)
  AUTHORS   Redfield,S. and Shearer,A.E.
  TITLE     STRC-Related Autosomal Recessive Hearing Loss
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   38109326
REFERENCE   10 (bases 1 to 4009)
  AUTHORS   Hildebrand,M.S., Avenarius,M.R. and Smith,R.J.H.
  TITLE     CATSPER-Related Male Infertility - 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   20301780
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011330.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_172095.3.
            
            Summary: This gene encodes a member of a family of cation channel
            proteins that localize to the flagellum of spermatozoa. Defects at
            this locus causes male infertility. Alternatively spliced
            transcript variants have been observed at this locus. Readthrough
            transcription originates upstream of this locus in
            diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 and is
            represented by GeneID:110006325. Related pseudogenes are found next
            to this locus on chromosome 15 and on chromosome 5. [provided by
            RefSeq, Mar 2017].
            
            Transcript Variant: This variant (2) is the reference variant and
            encodes isoform 2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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##
            CDS exon combination :: AF411818.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000396879.8/ ENSP00000380088.3
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-216               AC011330.8         117668-117883       c
            217-363             AC011330.8         116956-117102       c
            364-537             AC011330.8         116333-116506       c
            538-606             AC011330.8         116089-116157       c
            607-779             AC011330.8         109363-109535       c
            780-935             AC011330.8         108682-108837       c
            936-1060            AC011330.8         107943-108067       c
            1061-1239           AC011330.8         105080-105258       c
            1240-1339           AC011330.8         104766-104865       c
            1340-1396           AC011330.8         104399-104455       c
            1397-1614           AC011330.8         101756-101973       c
            1615-1779           AC011330.8         101238-101402       c
            1780-4009           AC011330.8         97542-99771         c
FEATURES             Location/Qualifiers
     source          1..4009
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.3"
     gene            1..4009
                     /gene="CATSPER2"
                     /note="cation channel sperm associated 2"
                     /db_xref="GeneID:117155"
                     /db_xref="HGNC:HGNC:18810"
                     /db_xref="MIM:607249"
     exon            1..216
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     exon            217..363
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     CDS             219..1811
                     /gene="CATSPER2"
                     /note="isoform 2 is encoded by transcript variant 2; sperm
                     ion channel; cation channel sperm-associated protein 2"
                     /codon_start=1
                     /product="cation channel sperm-associated protein 2
                     isoform 2"
                     /protein_id="NP_742093.1"
                     /db_xref="CCDS:CCDS10099.1"
                     /db_xref="GeneID:117155"
                     /db_xref="HGNC:HGNC:18810"
                     /db_xref="MIM:607249"
                     /translation="MAAYQQEEQMQLPRADAIRSRLIDTFSLIEHLQGLSQAVPRHTI
                     RELLDPSRQKKLVLGDQHQLVRFSIKPQRIEQISHAQRLLSRLHVRCSQRPPLSLWAG
                     WVLECPLFKNFIIFLVFLNTIILMVEIELLESTNTKLWPLKLTLEVAAWFILLIFILE
                     ILLKWLSNFSVFWKSAWNVFDFVVTMLSLLPEVVVLVGVTGQSVWLQLLRICRVLRSL
                     KLLAQFRQIQIIILVLVRALKSMTFLLMLLLIFFYIFAVTGVYVFSEYTRSPRQDLEY
                     HVFFSDLPNSLVTVFILFTLDHWYALLQDVWKVPEVSRIFSSIYFILWLLLGSIIFRS
                     IIVAMMVTNFQNIRKELNEEMARREVQLKADMFKRQIIQRRKNMSHEALTSSHSKIED
                     SSRGASQQRESLDLSEVSEVESNYGATEEDLITSASKTEETLSKKREYQSSSCVSSTS
                     SSYSSSSESRFSESIGRLDWETLVHENLPGLMEMDQDDRVWPRDSLFRYFELLEKLQY
                     NLEERKKLQEFAVQALMNLEDK"
     exon            364..537
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     exon            538..606
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     exon            607..779
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     exon            780..935
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1060
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1239
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     exon            1240..1339
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     exon            1340..1396
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     exon            1397..1614
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     exon            1615..1779
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     exon            1780..4009
                     /gene="CATSPER2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1925..1930
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CATSPER2"
                     /note="hexamer: ATTAAA"
     polyA_site      1950
                     /gene="CATSPER2"
                     /note="major polyA site"
     polyA_site      2697
                     /gene="CATSPER2"
ORIGIN      
        1 gttgctccgc atggtcctgg gctgtgggta ggggctaggg ccgggtcccg gggtgagccg
       61 aaacctgggg gtcgagcggg gcggggaatg gggcgcagtg aggctgggag ccggccctga
      121 gctcgtcttg cataggggta gccaggctcg gggcacctga gctggaggcg gaagcgtgaa
      181 ataaggactg agtgggcaaa gagaacctgg gctgagacat ggccgcttac caacaagaag
      241 agcagatgca gcttccccga gctgatgcca ttcgttcacg tctcatcgat actttctctc
      301 tcattgagca tttgcaaggc ttgagccaag ctgtgccgcg gcacactatc agggagttac
      361 ttgatccttc ccgccagaag aaacttgtat tgggagatca acaccagcta gtgcgtttct
      421 ctataaagcc tcagcgtata gaacagattt cacatgccca gaggctgttg agcaggcttc
      481 atgtgcgctg cagtcagagg ccacctcttt ctttgtgggc cggatgggtc cttgagtgtc
      541 ctctcttcaa aaacttcatc atcttcctgg tctttttgaa tacgatcata ttgatggttg
      601 aaatagaatt gctggaatcc acaaatacca aactatggcc attgaagctg accttggagg
      661 tggcagcttg gtttatcttg cttattttca tcctggagat ccttcttaag tggctatcca
      721 acttttctgt tttctggaag agtgcctgga atgtctttga ctttgttgtt accatgttgt
      781 ccctgcttcc cgaggttgtg gtattggtag gggtaacagg ccaatcggtg tggcttcagc
      841 ttctgaggat ctgccgggtg ctgaggtctc tcaaactcct tgcacaattc cgtcaaattc
      901 aaattattat tttggtcctg gtcagggccc tcaagagcat gaccttcctc ttgatgttgc
      961 tgctcatctt cttctacatt tttgctgtga ctggtgtcta cgtcttctca gagtacaccc
     1021 gttcacctcg tcaggacctg gagtaccatg tgttcttctc ggacctcccg aattccctgg
     1081 taacagtgtt cattctcttc accttggatc attggtatgc actgcttcag gacgtctgga
     1141 aggtgcctga agtcagtcgc atcttcagca gcatctattt catcctttgg ttgttgcttg
     1201 gctccattat ctttcgaagt atcatagtag ccatgatggt tactaacttt cagaatatca
     1261 ggaaagagct gaatgaggag atggcgcgtc gggaggttca gctcaaagct gacatgttca
     1321 agcggcagat catccagagg agaaaaaaca tgtcacatga agcactgacg tcaagccata
     1381 gcaaaataga ggacagttca agaggagcta gtcaacaaag ggaaagtttg gacttatcag
     1441 aagtgtctga agtagagtct aattatggtg ccactgaaga ggatttaata acatctgcat
     1501 caaaaacaga agagaccttg tcaaaaaaga gagagtacca gtcttcctcc tgtgtctcct
     1561 ccacatcctc ttcctattct tcctcttctg aatccagatt ttctgaatct attggtcgtt
     1621 tggactggga gactcttgtg cacgaaaatc tgcccgggct aatggaaatg gatcaggatg
     1681 accgtgtttg gcccagagac tcactcttcc gatattttga gttgctagaa aagcttcagt
     1741 ataacctaga ggaacgtaag aagttacaag agtttgcagt gcaggcactg atgaacttgg
     1801 aagacaagta aagcaatgga tggcttcaat atccttgggc ccagcaaaag ataatgaagg
     1861 gaattgttgg aaatagagaa ttgaaaatat aaacattcag atagaacaat gtctgttcat
     1921 taaaattaaa aagtataagt gtctaggcca ggcgtggtga aaccctgtct ctactaaaaa
     1981 tacaaaaaaa ttagctgggt gtggtggcag atgcttgtaa tcatagctac ttgggagcct
     2041 gaggcaggag aatcacttga acctgggagt cagaggttgc agtgagccaa gattgcacca
     2101 ctgcactcca gcctgggcaa cagagtgaga ctctgtataa gtgtcttata aatactcctg
     2161 atagctgctc agtagtgtga ccctgagata agggatattg aaaggcataa ggtcaagtaa
     2221 aagagttagt tcaagctgag tgtggtgatg tgtgcctcta gtcccagcta tgggctgagg
     2281 caggattgtt tgaggcaggg agttcgaggc tacagcaagc taggatcata tcactgcatt
     2341 ccagcctggg caacatagcg agaccctatc tctaaaaaag aacaaaacaa gttagctcag
     2401 atgccagtgg agtctgtgct ccttagcttt ctaccctttc cacagctcct gaatctgact
     2461 catttcttga ctttatcatt atagcttcca cccttcctgc aacctctact gcctgattag
     2521 agtcctaatt ttaccctctc cctccctgat gcataggtaa aggcccctct gtggagtaag
     2581 gagatcttca gagctgttag tgtaactaat tgagaagtat tgtttccatt gcgtgttcca
     2641 ctcatgttgc ttctcttgtg aaccattaac tttaattgga tattattttt acctgtttct
     2701 ggaccggaag tctctttatt tcattttgcc atagctcagg gcagtgttca aatcagtaag
     2761 tgttgtacag gtttttagtg ttagaaggga tttcagagtt aatctatctc ccatcaaagc
     2821 aggaacacct tttagaacat cactgaaagg aggattatcc aggtaatgct taatgtttct
     2881 agttatttgg gatttattat ctagaaggga tcccattcca tcgttagaag acttaagtct
     2941 ttagacatgt ttattattaa aaattatatc acttattgag tgtttaacat gtatgaggtt
     3001 atttatatat ttagtatata tatactgtat atagagtatg catatttcat aaaataatca
     3061 tatatggaag atagcgtcac atttttagag atcagaaaac taaggcctaa agaaattaag
     3121 taagttaagt agcttgccca agagcacata ccaagtaaga ggtagagcta aggttctaac
     3181 tcaggttaaa aattctgagt tgagaaaaaa atcagttgaa gccatttaaa caataaaata
     3241 gcttactgga gactggaaaa ttcaaaggta gtatagcttc aggattgatt taatgtaaaa
     3301 attcactgtt gttagatctg tggttttgtt tctctggaat tttcctgtct gcgctctcct
     3361 ccacgtgttc ttgttattct cagactggct tcacttgggt agccagacaa ttttctgaag
     3421 cgcctaggct tgcataccta tttccccata tgcaggggaa gagagccggt gactcctttc
     3481 tcagtcaatg aacaaaattt ttgagctttg ggtcacaata atggttattc ttggagtgaa
     3541 gatactgatg gggaggaagc atgaagcatc tggagtgcta tagatatgtt ccatatcttg
     3601 atctgcatgg tggttacacc ggtatataca gatgtaaaaa ttcaacaaaa tgtacactta
     3661 aaatttgggc attaactgca ggtaagtcaa cctccactcc tctaaagata tcctgaccac
     3721 cactctgatt ggaccaagaa gttaggtcat atgcttacgt ctgaacaaat tgttgaggta
     3781 aggtggtggt tgtgatgaaa tcactaatta aggctttctc ctgaactgga ggtaaggtca
     3841 gtaacaccca accttaagta agggctgcta cccaagtggg gaagagatgg aagggggcaa
     3901 tagggtggta attataaagt cctcacctaa gagtatgtct ggcaaaaagg ccaagatggg
     3961 gaaaaggcaa atgaattgaa tgtccagaat aaacaaatct atgaagaca
//
