ID   HORM2_HUMAN             Reviewed;         307 AA.
AC   Q8N7B1; B5MEB2; Q8NHR2;
DT   17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT   17-APR-2007, sequence version 2.
DT   03-AUG-2022, entry version 122.
DE   RecName: Full=HORMA domain-containing protein 2;
GN   Name=HORMAD2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX   PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA   Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA   Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA   Beare D.M., Dunham I.;
RT   "A genome annotation-driven approach to cloning the human ORFeome.";
RL   Genome Biol. 5:R84.1-R84.11(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Testis;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=10591208; DOI=10.1038/990031;
RA   Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA   Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA   Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA   Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA   Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA   Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA   Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA   Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA   Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA   Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA   Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA   Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA   Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA   Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA   Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA   Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA   Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA   Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA   Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA   Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA   Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA   Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA   Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA   Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA   Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA   Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA   Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA   Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA   Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA   Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA   Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA   Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA   Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA   McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA   Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA   Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA   Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA   Wright H.;
RT   "The DNA sequence of human chromosome 22.";
RL   Nature 402:489-495(1999).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Testis;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [6]
RP   IDENTIFICATION, AND TISSUE SPECIFICITY.
RX   PubMed=15999985;
RA   Chen Y.-T., Venditti C.A., Theiler G., Stevenson B.J., Iseli C., Gure A.O.,
RA   Jongeneel C.V., Old L.J., Simpson A.J.G.;
RT   "Identification of CT46/HORMAD1, an immunogenic cancer/testis antigen
RT   encoding a putative meiosis-related protein.";
RL   Cancer Immun. 5:9-9(2005).
RN   [7]
RP   SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX   PubMed=22893617; DOI=10.1093/molehr/gas033;
RA   Liu M., Chen J., Hu L., Shi X., Zhou Z., Hu Z., Sha J.;
RT   "HORMAD2/CT46.2, a novel cancer/testis gene, is ectopically expressed in
RT   lung cancer tissues.";
RL   Mol. Hum. Reprod. 18:599-604(2012).
CC   -!- FUNCTION: Essential for synapsis surveillance during meiotic prophase
CC       via the recruitment of ATR activity. Plays a key role in the male mid-
CC       pachytene checkpoint and the female meiotic prophase checkpoint:
CC       required for efficient build-up of ATR activity on unsynapsed
CC       chromosome regions, a process believed to form the basis of meiotic
CC       silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality
CC       control in both sexes. Required for the DNA double-strand break-
CC       independent, BRCA1-dependent activation of ATR on the sex chromosomes
CC       that is essential for normal sex body formation (By similarity).
CC       {ECO:0000250}.
CC   -!- SUBUNIT: Interacts with HORMAD1. {ECO:0000250}.
CC   -!- INTERACTION:
CC       Q8N7B1; O96028: NSD2; NbExp=3; IntAct=EBI-13346145, EBI-2693298;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22893617}. Chromosome
CC       {ECO:0000250}. Note=Preferentially localizes to unsynapsed or
CC       desynapsed chromosomal regions during the male and female prophase I
CC       stage of meiosis. TRIP13 is required for depletion from synapsed
CC       chromosomes (By similarity). {ECO:0000250}.
CC   -!- TISSUE SPECIFICITY: Highly expressed in testis (at protein level).
CC       Expressed in lung adenocarcinoma and squamous cell carcinoma (at
CC       protein level). Expressed at lower levels in the liver, brain and
CC       kidney. {ECO:0000269|PubMed:15999985, ECO:0000269|PubMed:22893617}.
CC   -!- PTM: Phosphorylated in a SPO11-dependent manner. {ECO:0000250}.
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DR   EMBL; CR456341; CAG30227.1; -; mRNA.
DR   EMBL; AK098703; BAC05388.1; -; mRNA.
DR   EMBL; AC002378; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC003071; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471095; EAW59860.1; -; Genomic_DNA.
DR   EMBL; BC030013; AAH30013.1; -; mRNA.
DR   CCDS; CCDS46683.1; -.
DR   RefSeq; NP_001316386.1; NM_001329457.1.
DR   RefSeq; NP_001316387.1; NM_001329458.1.
DR   RefSeq; NP_689723.1; NM_152510.3.
DR   RefSeq; XP_011528219.1; XM_011529917.2.
DR   AlphaFoldDB; Q8N7B1; -.
DR   SMR; Q8N7B1; -.
DR   BioGRID; 127278; 31.
DR   IntAct; Q8N7B1; 1.
DR   STRING; 9606.ENSP00000336984; -.
DR   iPTMnet; Q8N7B1; -.
DR   PhosphoSitePlus; Q8N7B1; -.
DR   BioMuta; HORMAD2; -.
DR   DMDM; 145558934; -.
DR   MassIVE; Q8N7B1; -.
DR   PaxDb; Q8N7B1; -.
DR   PeptideAtlas; Q8N7B1; -.
DR   PRIDE; Q8N7B1; -.
DR   ProteomicsDB; 72278; -.
DR   Antibodypedia; 311; 146 antibodies from 19 providers.
DR   DNASU; 150280; -.
DR   Ensembl; ENST00000336726.11; ENSP00000336984.6; ENSG00000176635.18.
DR   Ensembl; ENST00000403975.1; ENSP00000385055.1; ENSG00000176635.18.
DR   GeneID; 150280; -.
DR   KEGG; hsa:150280; -.
DR   MANE-Select; ENST00000336726.11; ENSP00000336984.6; NM_152510.4; NP_689723.1.
DR   UCSC; uc003agy.4; human.
DR   CTD; 150280; -.
DR   DisGeNET; 150280; -.
DR   GeneCards; HORMAD2; -.
DR   HGNC; HGNC:28383; HORMAD2.
DR   HPA; ENSG00000176635; Tissue enriched (testis).
DR   MIM; 618842; gene.
DR   neXtProt; NX_Q8N7B1; -.
DR   OpenTargets; ENSG00000176635; -.
DR   PharmGKB; PA134889862; -.
DR   VEuPathDB; HostDB:ENSG00000176635; -.
DR   eggNOG; KOG4652; Eukaryota.
DR   GeneTree; ENSGT00390000018130; -.
DR   HOGENOM; CLU_058638_2_0_1; -.
DR   InParanoid; Q8N7B1; -.
DR   OMA; YLQIVFI; -.
DR   OrthoDB; 1038689at2759; -.
DR   PhylomeDB; Q8N7B1; -.
DR   TreeFam; TF313989; -.
DR   PathwayCommons; Q8N7B1; -.
DR   SignaLink; Q8N7B1; -.
DR   BioGRID-ORCS; 150280; 35 hits in 1073 CRISPR screens.
DR   ChiTaRS; HORMAD2; human.
DR   GeneWiki; HORMAD2; -.
DR   GenomeRNAi; 150280; -.
DR   Pharos; Q8N7B1; Tbio.
DR   PRO; PR:Q8N7B1; -.
DR   Proteomes; UP000005640; Chromosome 22.
DR   RNAct; Q8N7B1; protein.
DR   Bgee; ENSG00000176635; Expressed in right testis and 48 other tissues.
DR   ExpressionAtlas; Q8N7B1; baseline and differential.
DR   Genevisible; Q8N7B1; HS.
DR   GO; GO:0005813; C:centrosome; IDA:HPA.
DR   GO; GO:0005694; C:chromosome; ISS:UniProtKB.
DR   GO; GO:0005829; C:cytosol; IDA:HPA.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR   GO; GO:0000795; C:synaptonemal complex; IEA:Ensembl.
DR   GO; GO:0051321; P:meiotic cell cycle; ISS:UniProtKB.
DR   GO; GO:0051177; P:meiotic sister chromatid cohesion; ISS:UniProtKB.
DR   Gene3D; 3.30.900.10; -; 1.
DR   InterPro; IPR003511; HORMA_dom.
DR   InterPro; IPR036570; HORMA_dom_sf.
DR   Pfam; PF02301; HORMA; 1.
DR   SUPFAM; SSF56019; SSF56019; 1.
DR   PROSITE; PS50815; HORMA; 1.
PE   1: Evidence at protein level;
KW   Chromosome; Meiosis; Nucleus; Phosphoprotein; Reference proteome.
FT   CHAIN           1..307
FT                   /note="HORMA domain-containing protein 2"
FT                   /id="PRO_0000284669"
FT   DOMAIN          29..234
FT                   /note="HORMA"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00109"
FT   VARIANT         2
FT                   /note="A -> T (in dbSNP:rs34150968)"
FT                   /id="VAR_031802"
FT   VARIANT         20
FT                   /note="V -> L (in dbSNP:rs34305723)"
FT                   /id="VAR_031803"
FT   CONFLICT        217
FT                   /note="N -> D (in Ref. 2; BAC05388)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   307 AA;  35284 MW;  A190ABB99E374EB3 CRC64;
     MATAQLSHCI TIHKASKETV FPSQITNEHE SLKMVKKLFA TSISCITYLR GLFPESSYGE
     RHLDDLSLKI LREDKKCPGS LHIIRWIQGC FDALEKRYLR MAVLTLYTDP MGSEKVTEMY
     QFKFKYTKEG ATMDFDSHSS STSFESGTNN EDIKKASVLL IRKLYILMQD LEPLPNNVVL
     TMKLHYYNAV TPHDYQPLGF KEGVNSHFLL FDKEPINVQV GFVSTGFHSM KVKVMTEATK
     VIDLENNLFR ENSTTEIAHQ GLDCDEEEEC NDHIQRMNFV CSQQSSECSR KKRKVSEPVK
     VFIPNRK