LOCUS       NM_024329               2422 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens EF-hand domain family member D2 (EFHD2), mRNA.
ACCESSION   NM_024329
VERSION     NM_024329.6
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 2422)
  AUTHORS   Thylur Puttalingaiah,R.
  TITLE     Role of Swiprosin-1/EFHD2 as a biomarker in the development of
            chronic diseases
  JOURNAL   Life Sci 297, 120462 (2022)
   PUBMED   35276221
  REMARK    GeneRIF: Role of Swiprosin-1/EFHD2 as a biomarker in the
            development of chronic diseases.
            Review article
REFERENCE   2  (bases 1 to 2422)
  AUTHORS   Fan,C.C., Tsai,S.T., Lin,C.Y., Chang,L.C., Yang,J.C., Chen,G.Y.,
            Sher,Y.P., Wang,S.C., Hsiao,M. and Chang,W.C.
  TITLE     EFHD2 contributes to non-small cell lung cancer cisplatin
            resistance by the activation of NOX4-ROS-ABCC1 axis
  JOURNAL   Redox Biol 34, 101571 (2020)
   PUBMED   32446175
  REMARK    GeneRIF: EFHD2 contributes to non-small cell lung cancer cisplatin
            resistance by the activation of NOX4-ROS-ABCC1 axis.
REFERENCE   3  (bases 1 to 2422)
  AUTHORS   Gao,M., Zeng,K., Li,Y., Liu,Y.P., Xia,X., Xu,F.L., Yao,J. and
            Wang,B.J.
  TITLE     Association between EFHD2 gene polymorphisms and schizophrenia
            among the Han population in northern China
  JOURNAL   J Int Med Res 48 (6), 300060520932801 (2020)
   PUBMED   32567430
  REMARK    GeneRIF: Association between EFHD2 gene polymorphisms and
            schizophrenia among the Han population in northern China.
REFERENCE   4  (bases 1 to 2422)
  AUTHORS   Martino,J., Brunette,G.J., Barroso-Gonzalez,J., Moiseeva,T.N.,
            Smith,C.M., Bakkenist,C.J., O'Sullivan,R.J. and Bernstein,K.A.
  TITLE     The human Shu complex functions with PDS5B and SPIDR to promote
            homologous recombination
  JOURNAL   Nucleic Acids Res 47 (19), 10151-10165 (2019)
   PUBMED   31665741
  REMARK    GeneRIF: our study uncovers a protein complex, which consists of
            SWS1, SWSAP1, SPIDR and PDS5B, involved in DNA repair and provides
            insight into Shu complex function and composition
REFERENCE   5  (bases 1 to 2422)
  AUTHORS   Thylur,R.P., Ahn,S.Y., Jung,E., Jun,C.D. and Hyun,Y.M.
  TITLE     Conserved Noncoding Sequences Boost ADR1 and SP1 Regulated Human
            Swiprosin-1 Promoter Activity
  JOURNAL   Sci Rep 8 (1), 16481 (2018)
   PUBMED   30405162
  REMARK    GeneRIF: first time we have identified the -100/+41 to -70/+41 bp
            core promoter regions of Swiprosin-1 gene, and showed ADR1 and Sp1
            are important transcription factors that directly bind to and
            transactivate the Swiprosin-1 promoter region.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2422)
  AUTHORS   Martins-de-Souza,D., Gattaz,W.F., Schmitt,A., Rewerts,C.,
            Maccarrone,G., Dias-Neto,E. and Turck,C.W.
  TITLE     Prefrontal cortex shotgun proteome analysis reveals altered calcium
            homeostasis and immune system imbalance in schizophrenia
  JOURNAL   Eur Arch Psychiatry Clin Neurosci 259 (3), 151-163 (2009)
   PUBMED   19165527
  REMARK    GeneRIF: Using shotgun mass spectrometry, we found this protein
            differentially expressed in the dorsolateral prefrontal cortex from
            patients with schizophrenia.
REFERENCE   7  (bases 1 to 2422)
  AUTHORS   Avramidou,A., Kroczek,C., Lang,C., Schuh,W., Jack,H.M. and
            Mielenz,D.
  TITLE     The novel adaptor protein Swiprosin-1 enhances BCR signals and
            contributes to BCR-induced apoptosis
  JOURNAL   Cell Death Differ 14 (11), 1936-1947 (2007)
   PUBMED   17673920
REFERENCE   8  (bases 1 to 2422)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (bases 1 to 2422)
  AUTHORS   Vuadens,F., Rufer,N., Kress,A., Corthesy,P., Schneider,P. and
            Tissot,J.D.
  TITLE     Identification of swiprosin 1 in human lymphocytes
  JOURNAL   Proteomics 4 (8), 2216-2220 (2004)
   PUBMED   15274114
  REMARK    GeneRIF: Its predominant presence in CD8 lymphocytes suggests that
            swiprosin-1 may be involved in functions that are important for
            cytotoxic lymphocytes.
REFERENCE   10 (bases 1 to 2422)
  AUTHORS   Vuadens,F., Gasparini,D., Deon,C., Sanchez,J.C., Hochstrasser,D.F.,
            Schneider,P. and Tissot,J.D.
  TITLE     Identification of specific proteins in different lymphocyte
            populations by proteomic tools
  JOURNAL   Proteomics 2 (1), 105-111 (2002)
   PUBMED   11788997
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031283.26, BI753983.1, BM796344.1, BC007233.1 and BC023611.2.
            
            On Nov 23, 2018 this sequence version replaced NM_024329.5.
            
            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 :: BC023611.2, SRR1163658.162115.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375980.9/ ENSP00000365147.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AL031283.26        129539-129545
            8-27                BI753983.1         1-20
            28-49               BM796344.1         18-39
            50-1262             BC007233.1         1-1213
            1263-2422           BC023611.2         1206-2365
FEATURES             Location/Qualifiers
     source          1..2422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..2422
                     /gene="EFHD2"
                     /gene_synonym="SWS1"
                     /note="EF-hand domain family member D2"
                     /db_xref="GeneID:79180"
                     /db_xref="HGNC:HGNC:28670"
                     /db_xref="MIM:616450"
     exon            1..392
                     /gene="EFHD2"
                     /gene_synonym="SWS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..807
                     /gene="EFHD2"
                     /gene_synonym="SWS1"
                     /note="EF hand domain containing 2; swiprosin 1;
                     testicular tissue protein Li 62"
                     /codon_start=1
                     /product="EF-hand domain-containing protein D2"
                     /protein_id="NP_077305.2"
                     /db_xref="CCDS:CCDS155.1"
                     /db_xref="GeneID:79180"
                     /db_xref="HGNC:HGNC:28670"
                     /db_xref="MIM:616450"
                     /translation="MATDELATKLSRRLQMEGEGGGETPEQPGLNGAAAAAAGAPDEA
                     AEALGSADCELSAKLLRRADLNQGIGEPQSPSRRVFNPYTEFKEFSRKQIKDMEKMFK
                     QYDAGRDGFIDLMELKLMMEKLGAPQTHLGLKNMIKEVDEDFDSKLSFREFLLIFRKA
                     AAGELQEDSGLCVLARLSEIDVSSEGVKGAKSFFEAKVQAINVSSRFEEEIKAEQEER
                     KKQAEEMKQRKAAFKELQSTFK"
     exon            393..540
                     /gene="EFHD2"
                     /gene_synonym="SWS1"
                     /inference="alignment:Splign:2.1.0"
     exon            541..675
                     /gene="EFHD2"
                     /gene_synonym="SWS1"
                     /inference="alignment:Splign:2.1.0"
     exon            676..2422
                     /gene="EFHD2"
                     /gene_synonym="SWS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      911..916
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFHD2"
                     /gene_synonym="SWS1"
                     /note="hexamer: ACTAAA"
     polyA_site      928
                     /gene="EFHD2"
                     /gene_synonym="SWS1"
                     /note="major polyA site"
     regulatory      2269..2274
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFHD2"
                     /gene_synonym="SWS1"
                     /note="hexamer: TATAAA"
     polyA_site      2291
                     /gene="EFHD2"
                     /gene_synonym="SWS1"
                     /note="major polyA site"
     regulatory      2403..2408
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFHD2"
                     /gene_synonym="SWS1"
                     /note="hexamer: GATAAA"
     polyA_site      2422
                     /gene="EFHD2"
                     /gene_synonym="SWS1"
                     /note="major polyA site"
ORIGIN      
        1 gagtgtcagg aagaggaaga gcgcggccgg cggcgctgcg ctgagagcag gggcccggcc
       61 aaggcgagtg ccgcgcgggc caccatggcc acggacgagc tggccaccaa gctgagccgg
      121 cggctgcaga tggagggcga gggcggcggc gagaccccgg agcagcccgg gctgaacggg
      181 gcagcggcgg cggcggcggg ggcacccgac gaggcggccg aggcgctggg cagcgcggac
      241 tgcgagctga gcgccaagct gctgcggcgc gcagacctca accagggcat cggcgagccc
      301 cagtcgccca gccgccgcgt cttcaacccc tacaccgagt tcaaggagtt ctccaggaag
      361 cagatcaagg acatggagaa gatgttcaag cagtatgatg ccgggcggga cggcttcatc
      421 gacctgatgg agctaaaact catgatggag aaacttgggg cccctcagac ccacctgggc
      481 ctgaaaaaca tgatcaagga ggtggatgag gactttgaca gcaagctgag cttccgggag
      541 ttcctcctga tcttccgcaa ggcggcggcc ggggagcttc aggaggacag cgggctgtgc
      601 gtgctggccc gcctctctga gatcgacgtc tccagtgagg gtgtcaaggg ggccaagagc
      661 ttctttgagg ccaaggtcca ggccatcaac gtgtccagcc gcttcgagga ggagatcaag
      721 gcagagcagg aggaaaggaa gaagcaggcg gaggagatga agcagcggaa agcggccttc
      781 aaggagctgc agtccacctt taagtagcgg gggctgcagc cgaccgccct gctccggccc
      841 cagtgtggtg ggcgagggtg gcgcatggga ggccgagcct gaatccttgc ctgtgtctga
      901 cgggaccact actaaaaacc taaaaatatc tgtgaatgga gcaagttcag gggtcttatg
      961 gaggtggccc ggcccctccc cgctcccttc cactctgcac gaggccgcca caccggcgct
     1021 ggctccctgc ccggcccggc cctccctggc aatccctggg ctctcttgca cccctaactg
     1081 ccccctgcct gctccggcac tgccccaggc ccagctcctg gccctaggtc cctcccagcc
     1141 ccatgtgcct gccgcctgcc ctccacacat ccctgtcccc ccaacccggg aacccctgcc
     1201 ctcctccagc aggccgcacc gcccctgggg ccccctgcca gccccttccc aggctgggag
     1261 acggcagaag agatagaatc agggctgccc ccacagagtg ggacccaagg ggctaattgg
     1321 aggcacgagg ggacccctcc ccagggcctt ttcctcctct gcgtcttcca tctactgaaa
     1381 tgggagaggg ggtggggagc ttctgttctg gtgaagggac ccgggcaggc ccccagcacc
     1441 ccatgctgac ttggagaacc ccagatctct ggggcccagc caggcagggt gtgggggcag
     1501 ctgtgccaat ctacctcaca ggcccacccc ctgccgggca tgccgtggga tcatgggcag
     1561 ggaaggctct gggggtcgga gacaccgctg cttagcaccc ccagccagaa caccctgagg
     1621 gtctcggggc tctggagaga gtggggcggg aggaagaatt ggcaccttcc tagggaagga
     1681 gacgagcgct tcgccttgat tctccgagaa gcctccgaga agtgctttaa gtgtgtttgc
     1741 atgcgccagg cggtgggcag cgggggcctg tccagccctc tcccgccatc cttccccaag
     1801 tgacgtccac tgccttgtca ccagcgacct gcctgtcatg cccaccccct gaggaagcat
     1861 ggggacccta acaccctggt gccctgcacc agacaggccg tggtcaggcc caggccaccg
     1921 gccgggttct gccacagctt cccacgtgct tgctgacatg cgtgtgcctg tgtgtggtgt
     1981 ctgttgctgt gtcgtgaaac tgtgaccatc actcagtcca aacaagtgag tggccctcga
     2041 ggccacagtt atgcaacttt cagtgtgtgt cataacgacg tcactgcttt ttaaactcga
     2101 taactcttta ttttagtaaa atgcccagga gtcctggaag ctacgcggac ttgcagaggt
     2161 tttatttttt ggccttagaa tctgcagaaa ttaggaggca ccgagcccag cgcagcagcc
     2221 tcggacccgg attgcgtttg ccttagcgga tatgtttata cagatgaata taaaatgttt
     2281 ttttctttgg gctttttgct tcttttttcc cccccttctc accttccctt ctccccgacc
     2341 ccacccccca aaaaagctac ttcttcattc cgtggtacga ttattttttt taactaaagg
     2401 aagataaaat tctatattct ta
//
