LOCUS       NM_152510               1897 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens HORMA domain containing 2 (HORMAD2), transcript
            variant 2, mRNA.
ACCESSION   NM_152510
VERSION     NM_152510.4
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 1897)
  AUTHORS   Liang,M., Suresh,B., Bareke,E., Choufani,S., Jagadeesh,S.,
            Weksberg,R., Majewski,J. and Slim,R.
  TITLE     A homozygous stop codon in HORMAD2 in a patient with recurrent
            digynic triploid miscarriage
  JOURNAL   Mol Genet Genomic Med 12 (2), e2402 (2024)
   PUBMED   38400599
  REMARK    GeneRIF: A homozygous stop codon in HORMAD2 in a patient with
            recurrent digynic triploid miscarriage.
REFERENCE   2  (bases 1 to 1897)
  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   3  (bases 1 to 1897)
  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   4  (bases 1 to 1897)
  AUTHORS   Shi,D., Zhong,Z., Wang,M., Cai,L., Fu,D., Peng,Y., Guo,L., Mao,H.,
            Yu,X. and Li,M.
  TITLE     Identification of susceptibility locus shared by IgA nephropathy
            and inflammatory bowel disease in a Chinese Han population
  JOURNAL   J Hum Genet 65 (3), 241-249 (2020)
   PUBMED   31857673
  REMARK    GeneRIF: Identification of susceptibility locus shared by IgA
            nephropathy and inflammatory bowel disease in a Chinese Han
            population.
REFERENCE   5  (bases 1 to 1897)
  AUTHORS   Lin,Q., Hou,S., Guan,F. and Lin,C.
  TITLE     HORMAD2 methylation-mediated epigenetic regulation of gene
            expression in thyroid cancer
  JOURNAL   J Cell Mol Med 22 (10), 4640-4652 (2018)
   PUBMED   30039914
  REMARK    GeneRIF: Hypermethylation of HORMAD2 could induce thyroid carcinoma
            progression, while hypomethylation of HORMAD2 retards cell growth
            and mobility and facilitates apoptosis through increasing its mRNA
            expression.
REFERENCE   6  (bases 1 to 1897)
  AUTHORS   Feenstra,B., Bager,P., Liu,X., Hjalgrim,H., Nohr,E.A.,
            Hougaard,D.M., Geller,F. and Melbye,M.
  TITLE     Genome-wide association study identifies variants in HORMAD2
            associated with tonsillectomy
  JOURNAL   J Med Genet 54 (5), 358-364 (2017)
   PUBMED   27941131
  REMARK    GeneRIF: The variant rs2412971, intronic in HORMAD2 at chromosome
            22q12.2, was robustly associated with tonsillectomy.
REFERENCE   7  (bases 1 to 1897)
  AUTHORS   Zhang,K., Tang,S., Cao,S., Hu,L., Pan,Y., Ma,H., Guo,X., Wu,S.,
            Shen,H. and Hu,Z.
  TITLE     Association of polymorphisms at HORMAD2 and prognosis in advanced
            non-small-cell lung cancer patients
  JOURNAL   Cancer Epidemiol 38 (4), 414-418 (2014)
   PUBMED   24797335
  REMARK    GeneRIF: These findings indicate that polymorphisms at the CT gene
            HORMAD2 might be involved in the prognosis of advanced
            non-small-cell lung cancer in Han Chinese.
REFERENCE   8  (bases 1 to 1897)
  AUTHORS   Song,B., He,X., Du,W., Zhang,Y., Ruan,J., Zhou,F., Zuo,X.B., Wu,H.,
            Zha,X., Liu,S., Xie,X.S., Ye,L., Wei,Z., Zhou,P. and Cao,Y.X.
  TITLE     Genetic study of Hormad1 and Hormad2 with non-obstructive
            azoospermia patients in the male Chinese population
  JOURNAL   J Assist Reprod Genet 31 (7), 873-879 (2014)
   PUBMED   24803422
  REMARK    GeneRIF: Hormad1 and Hormad2 might not be the susceptible genes for
            the non-obstructive azoospermia in our study population. However,
            rs718772 of Hormad2 variant might be associated with testis
            development in NOA patients.
REFERENCE   9  (bases 1 to 1897)
  AUTHORS   Liu,M., Chen,J., Hu,L., Shi,X., Zhou,Z., Hu,Z. and Sha,J.
  TITLE     HORMAD2/CT46.2, a novel cancer/testis gene, is ectopically
            expressed in lung cancer tissues
  JOURNAL   Mol Hum Reprod 18 (12), 599-604 (2012)
   PUBMED   22893617
  REMARK    GeneRIF: HORMAD2 is predominantly expressed in human testis and
            weakly expressed in liver. HORMAD2 is ectopically expressed in
            nearly 10% of lung cancer samples from Chinese Han individuals.
REFERENCE   10 (bases 1 to 1897)
  AUTHORS   Kogo,H., Tsutsumi,M., Inagaki,H., Ohye,T., Kiyonari,H. and
            Kurahashi,H.
  TITLE     HORMAD2 is essential for synapsis surveillance during meiotic
            prophase via the recruitment of ATR activity
  JOURNAL   Genes Cells 17 (11), 897-912 (2012)
   PUBMED   23039116
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC030013.1 and BI829841.1.
            
            On Jul 11, 2019 this sequence version replaced NM_152510.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030013.1, CR456341.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336726.11/ ENSP00000336984.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1895              BC030013.1         6-1900
            1896-1897           BI829841.1         531-532
FEATURES             Location/Qualifiers
     source          1..1897
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..1897
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /note="HORMA domain containing 2"
                     /db_xref="GeneID:150280"
                     /db_xref="HGNC:HGNC:28383"
                     /db_xref="MIM:618842"
     exon            1..28
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /inference="alignment:Splign:2.1.0"
     exon            29..116
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..989
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /note="isoform a is encoded by transcript variant 2; HORMA
                     domain-containing protein 2"
                     /codon_start=1
                     /product="HORMA domain-containing protein 2 isoform a"
                     /protein_id="NP_689723.1"
                     /db_xref="CCDS:CCDS46683.1"
                     /db_xref="GeneID:150280"
                     /db_xref="HGNC:HGNC:28383"
                     /db_xref="MIM:618842"
                     /translation="MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSIS
                     CITYLRGLFPESSYGERHLDDLSLKILREDKKCPGSLHIIRWIQGCFDALEKRYLRMA
                     VLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLL
                     IRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINV
                     QVGFVSTGFHSMKVKVMTEATKVIDLENNLFRENSTTEIAHQGLDCDEEEECNDHIQR
                     MNFVCSQQSSECSRKKRKVSEPVKVFIPNRK"
     exon            117..258
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /inference="alignment:Splign:2.1.0"
     exon            259..322
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /inference="alignment:Splign:2.1.0"
     exon            323..359
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /inference="alignment:Splign:2.1.0"
     exon            360..380
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /inference="alignment:Splign:2.1.0"
     exon            381..407
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /inference="alignment:Splign:2.1.0"
     exon            408..475
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /inference="alignment:Splign:2.1.0"
     exon            476..633
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /inference="alignment:Splign:2.1.0"
     exon            634..884
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /inference="alignment:Splign:2.1.0"
     exon            885..1897
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1878..1883
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /note="hexamer: AATAAA"
     polyA_site      1897
                     /gene="HORMAD2"
                     /gene_synonym="CT46.2"
                     /note="major polyA site"
ORIGIN      
        1 ggtgggaggg aagcgtcgac gagctgaggt tggacttgtt gaaataatcc tgatacattc
       61 ctacaatggc cactgctcag ctttctcact gcatcacaat acacaaggct tctaaggaaa
      121 cagttttccc atcccaaatc actaatgagc atgagtcatt gaaaatggtg aagaaacttt
      181 ttgctacttc catctcatgt ataacatacc taaggggcct gtttccagag agctcttatg
      241 gagaacgcca tttggatgac ctcagtttaa aaatcctccg agaagataaa aaatgtcccg
      301 ggtcactgca tattatcaga tggattcaag gttgttttga tgctttggaa aagagatacc
      361 tacgtatggc agtactgaca ctttacacag atcccatggg atctgagaag gtgactgaga
      421 tgtaccagtt caaattcaaa tacacgaaag aaggagccac tatggatttt gacagtcata
      481 gcagcagtac aagctttgaa agtggaacaa acaatgaaga tattaagaaa gccagtgttc
      541 tactgatccg taaattgtat atactgatgc aggaccttga gccacttcct aataatgttg
      601 tacttactat gaaactccac tactataatg cagtgacccc acatgattac caacccctcg
      661 gttttaaaga aggggtaaat tcacacttcc tgctgtttga caaggagcct atcaacgtgc
      721 aagtgggatt tgtctccact ggctttcata gcatgaaagt aaaagtcatg acagaggcta
      781 caaaagtgat tgatttggag aacaatctgt ttcgggagaa cagcactact gagatcgccc
      841 atcagggtct agactgtgat gaggaagaag aatgcaatga ccatattcaa agaatgaatt
      901 ttgtgtgcag tcagcaaagt tctgagtgct ccaggaagaa gaggaaggtc agtgaaccag
      961 tgaaggtctt catccctaac agaaaatgaa agctaaatat tccttctaca tttattttaa
     1021 aataagttta ttttgtaaaa acatgcataa actgtcttag caggaaagta cattcctgtt
     1081 accaaaacct ttttctaaat tttttgctca attttttttg tcagttgcta agtgctaaat
     1141 tactggccag gtaggacgcg agtccacttt gccataagga aagcgggtca atagggctgc
     1201 ctctggatag cattacttca aagctgggtt agagatgagg caccttttat attatatttg
     1261 taaaagaacc acagcagcta ttttggaaag aagctgttgt tctcaaagga aagaaggatt
     1321 tttttgcata attaaactct tcagctattt agactactgt gaaatgtttt gacttgttgt
     1381 aacctgtata ctggaatccc tctctagctg tattaaaaat tcccacagag ttgcatagga
     1441 tgtgtggagg tgcttatcca ggtgtgattt atgtgttaac ctcagtcacg aggttgatca
     1501 gctaattgtg ggaccaaaat gtgccctgcc tcaactctgg ccccaggccc tgttctgtta
     1561 tccaatccga aacacggaac atgctgcaat tcaggagtct ggctctcttc ttaagaccta
     1621 tattaaatat ttcccaagaa gcacttcagt ttatcagtct gtaacctgca aatgatgcta
     1681 ttagttccct ccttattctg gaagaatttg gatagactta attgatgatt agtatgagat
     1741 gaacaataga tgacttaaag tgttatttct attatttata taacatgaga tttagtaact
     1801 tataaaatga ggtttagtaa tttaatttaa atggatagga ccaataagtt aaatattaag
     1861 tgtgtgactt atggttaaat aaaatgaaaa tacaaga
//
