Protein: HORMA domain-containing protein 2 (Q8N7B1)
Organism: Homo sapiens (Human)
Function: Essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes. Required for the DNA double-strand break-independent, BRCA1-dependent activation of ATR on the sex chromosomes that is essential for normal sex body formation (By similarity).
Subcellular location: Nucleus {ECO:0000269|PubMed:22893617}. Chromosome {ECO:0000250}. Note=Preferentially localizes to unsynapsed or desynapsed chromosomal regions during the male and female prophase I stage of meiosis. TRIP13 is required for depletion from synapsed chromosomes (By similarity). {ECO:0000250}.
Sequence: MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDKKCPGSLHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLLIRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATKVIDLENNLFRENSTTEIAHQGLDCDEEEECNDHIQRMNFVCSQQSSECSRKKRKVSEPVKVFIPNRK
InterPro domains: - IPR003511: HORMA domain (domain) [29-234]
- IPR051294: HORMA Domain-Containing Meiotic Progression (family) [1-284]
- IPR036570: HORMA domain superfamily (homologous_superfamily) [16-293]
Interaction partners: - Synaptonemal complex protein 3
- MutS protein homolog 4
- Meiotic recombination protein SPO11
- Meiotic recombination protein REC8 homolog
- Synaptonemal complex protein 1
- MutS protein homolog 5
- Synaptonemal complex protein 2
- Pachytene checkpoint protein 2 homolog
- Structural maintenance of chromosomes protein 3
- Synaptonemal complex central element protein 1
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0005515 (protein binding)
Biological Process (BP): GO:0008150 (biological process), GO:0009987 (cellular process), GO:0000003 (reproduction), GO:0022414 (reproductive process), GO:0071840 (cellular component organization or biogenesis), GO:1903046 (meiotic cell cycle process), GO:0051321 (meiotic cell cycle), GO:0022402 (cell cycle process), GO:0007049 (cell cycle), GO:0070192 (chromosome organization involved in meiotic cell cycle), GO:0016043 (cellular component organization), GO:0045132 (meiotic chromosome segregation), GO:0007062 (sister chromatid cohesion), GO:0007059 (chromosome segregation), GO:0061983 (meiosis II cell cycle process), GO:0140013 (meiotic nuclear division), GO:0007135 (meiosis II), GO:0098813 (nuclear chromosome segregation), GO:0051177 (meiotic sister chromatid cohesion), GO:0006996 (organelle organization), GO:0045144 (meiotic sister chromatid segregation), GO:0048285 (organelle fission), GO:0000819 (sister chromatid segregation), GO:0051276 (chromosome organization), GO:0000280 (nuclear division)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0005622 (intracellular anatomical structure), GO:0043226 (organelle), GO:0043229 (intracellular organelle), GO:0043227 (membrane-bounded organelle), GO:0043231 (intracellular membrane-bounded organelle), GO:0005634 (nucleus)