InnateDB Protein
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IDBP-3961.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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HORMAD2
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Protein Name
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HORMA domain containing 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000336984
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InnateDB Gene
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IDBG-3959 (HORMAD2)
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Protein Structure
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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). {ECO:0000250}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed: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}.
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Disease Associations |
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Tissue Specificity |
Highly expressed in testis (at protein level). Expressed in lung adenocarcinoma and squamous cell carcinoma (at protein level). Expressed at lower levels in the liver, brain and kidney. {ECO:0000269PubMed:15999985, ECO:0000269PubMed:22893617}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003511
DNA-binding HORMA
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PFAM |
PF02301
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8N7B1
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PhosphoSite |
PhosphoSite-Q8N7B1
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
150280
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UniGene |
Hs.609045
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RefSeq |
NP_689723
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HUGO |
HGNC:28383
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OMIM |
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CCDS |
CCDS46683
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HPRD |
13668
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IMGT |
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EMBL |
AC002378
AC003071
AK098703
BC030013
CH471095
CR456341
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GenPept |
AAH30013
BAC05388
CAG30227
EAW59860
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