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HORMAD2 Gene

protein-coding   GIFtS: 48
GCID: GC22P030479

HORMA Domain Containing 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
HORMA Domain Containing 21 2
CT46.22
HORMA Domain-Containing Protein 22

External Ids:    HGNC: 283831   Entrez Gene: 1502802   Ensembl: ENSG000001766357   UniProtKB: Q8N7B13   

Export aliases for HORMAD2 gene to outside databases

Previous GC identifers: GC22P028802 GC22P013438


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HORMAD2 Gene:
HORMAD2 (HORMA domain containing 2) is a protein-coding gene. An important paralog of this gene is HORMAD1.

UniProtKB/Swiss-Prot: HORM2_HUMAN, Q8N7B1
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)

Gene Wiki entry for HORMAD2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HORMAD2 gene promoter:
         Nkx2-5   POU6F1 (c2)   RORalpha2   POU2F2C   RORalpha1   MEF-2A   S8   IRF-7A   c-Myb   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHORMAD2 promoter sequence
   Search Chromatin IP Primers for HORMAD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HORMAD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

HORMAD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HORMAD2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P030479:  view genomic region     (about GC identifiers)

Start:
30,476,163 bp from pter      End:
30,573,064 bp from pter
Size:
96,902 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HORM2_HUMAN, Q8N7B1 (See protein sequence)
Recommended Name: HORMA domain-containing protein 2  
Size: 307 amino acids; 35284 Da
Subunit: Interacts with HORMAD1 (By similarity)
Secondary accessions: B5MEB2 Q8NHR2

Explore the universe of human proteins at neXtProt for HORMAD2: NX_Q8N7B1

Explore proteomics data for HORMAD2 at MOPED

Post-translational modifications: 

  • Phosphorylated in a SPO11-dependent manner (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HORMAD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689723.1  
    ENSEMBL proteins: 
     ENSP00000336984   ENSP00000393415   ENSP00000385055  

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    antibodies-online proteins for HORMAD2 (6 products) 

     
    antibodies-online peptides for HORMAD2

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    antibodies-online antibodies for HORMAD2 (22 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR003511 HORMA_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q8N7B1

    ProtoNet protein and cluster: Q8N7B1

    1 Blocks protein domain: IPB003511 DNA-binding HORMA

    UniProtKB/Swiss-Prot: HORM2_HUMAN, Q8N7B1
    Similarity: Contains 1 HORMA domain


    Find genes that share domains with HORMAD2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HORM2_HUMAN, Q8N7B1
    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)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with HORMAD2           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Hormad2):
     cellular  endocrine/exocrine gland  no phenotypic analysis  reproductive system 

    Find genes that share phenotypes with HORMAD2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for HORMAD2: Hormad2tm1Kura Hormad2tm1.2Atot Hormad2tm1Atot

       genOway: Develop your customized and physiologically relevant rodent model for HORMAD2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HORM2_HUMAN, Q8N7B1: Nucleus. Chromosome (By similarity). 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005694chromosome ISS--

    Find genes that share ontologies with HORMAD2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HORMAD2
    Interactions:

        Search GeneGlobe Interaction Network for HORMAD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HORMAD2 (ENSP000003369844) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MND1ENSP000002404884STRING: ENSP00000240488
    DMC1ENSP000002160244STRING: ENSP00000216024
    RAD51CENSP000003367014STRING: ENSP00000336701
    RAD51ENSP000002678684STRING: ENSP00000267868
    RAD51DENSP000003780904STRING: ENSP00000378090
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007126meiotic nuclear division ISS--
    GO:0051177meiotic sister chromatid cohesion ISS--

    Find genes that share ontologies with HORMAD2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HORMAD2 (HORM2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HORMAD2 gene: 
    NM_152510.2  

    Unigene Cluster for HORMAD2:

    HORMA domain containing 2
    Hs.120391  [show with all ESTs]
    Unigene Representative Sequence: BC030013
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000336726(uc003agy.3) ENST00000450612 ENST00000403975 ENST00000491605

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      QuantiTect SYBR Green Assays in human, mouse, rat HORMAD2
      QuantiFast Probe-based Assays in human, mouse, rat HORMAD2

    Additional mRNA sequence: 

    AK098703.1 BC030013.1 CR456341.1 

    4 DOTS entries:

    DT.408694  DT.100012230  DT.100016143  DT.95341712 

    24 AceView cDNA sequences:

    CD244491 BP371324 BX105347 CR456341 AA953061 AK098703 AA723633 BC030013 
    AI017631 AA917521 AA905258 AW611598 BG723756 BI461945 AV645645 AV645567 
    NM_152510 BI459310 AW197087 AI188083 AW444913 BG723149 AI911123 BI829841 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HORMAD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATTTAGTA
    HORMAD2 Expression
    About this image


    HORMAD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Gonad
             XY Germ Cells Testis Cord
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Ovary (Reproductive System)
             XX Germ Cells Ovigerous Cord
     
     Eye (Sensory Organs)
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    HORMAD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HORMAD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.120391

    UniProtKB/Swiss-Prot: HORM2_HUMAN, Q8N7B1
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HORMAD2 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hormad21 , 5 HORMA domain containing 21, 5 83.28(n)1
    77.38(a)1
      11 (2.94 cM)5
    758281  NM_029458.11  NP_083734.11 
     43458145 
    chicken
    (Gallus gallus)
    Aves HORMAD21 HORMA domain containing 2 68.66(n)
    61.42(a)
      417012  XM_004934462.1  XP_004934519.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zte386
    zebrafish testis-expressed 38
    38(a)
    many ↔ many
    2(5734448-5746425) ENSDARG00000037056
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HOP16
    Meiosis-specific DNA binding protein that displays...
    9(a)
    1 → many
    IX(226602-228419) YIL072W


    ENSEMBL Gene Tree for HORMAD2 (if available)
    TreeFam Gene Tree for HORMAD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HORMAD2 gene
    HORMAD12  
    1 SIMAP similar gene for HORMAD2 using alignment to 2 protein entries:     HORM2_HUMAN (see all proteins):
    HORMAD1

    Find genes that share paralogs with HORMAD2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HORMAD2 (see all 1686)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1509590761,2
    --30474539(+) GCAGCA/GAGCCA 1 -- us2k10--------
    rs1846773081,2
    --30474553(+) TCACGC/TCACTG 1 -- us2k10--------
    rs2008803081,2
    --30474595(+) TCTCA-/CCAAAA 1 -- us2k10--------
    rs72869501,2
    C--30474597(+) ctcacC/Aaaaaa 1 -- us2k1 trp31Minor allele frequency- A:0.50CSA 2
    rs559667871,2
    C--30474626(+) AAAAA-/AA/   
      AAAAAA
    TTAGA
    2 -- us2k1 cds11NA 2
    rs130547051,2
    C,H--30474636(+) attgaG/Aagaaa 1 -- us2k15Minor allele frequency- A:0.00NS EA NA 410
    rs1404516821,2
    C--30474646(+) ATTCTA/GTGAAA 1 -- us2k10--------
    rs731647111,2
    C--30474766(+) GAAGGC/TAGAAG 1 -- us2k10--------
    rs1122035211,2
    F--30474804(+) CTAGTG/AATCCA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs96259121,2
    H--30474846(+) AAGGGC/TTGGTG 1 -- us2k14Minor allele frequency- T:0.00NS EA 420

    HapMap Linkage Disequilibrium report for HORMAD2 (30476163 - 30573064 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HORMAD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663065CNV Deletion23128226
    nsv191239CNV Insertion16902084
    nsv507932CNV Insertion20534489
    nsv834173CNV Loss17160897
    nsv527188CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with HORMAD2           About GenesLikeMe

    Genetic Association Database (GAD): HORMAD2
    Human Genome Epidemiology (HuGE) Navigator: HORMAD2 (1 document)

    Export disorders for HORMAD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HORMAD2 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with HORMAD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HORMAD2/CT46.2, a novel cancer/testis gene, is ectopically expressed in lung cancer tissues. (PubMed id 22893617)1, 2 Liu M.... Sha J. (Mol. Hum. Reprod. 2012)
    2. Genome-wide association study identifies susceptibility loci for IgA nephropathy. (PubMed id 21399633)1, 4 Gharavi A.G....Lifton R.P. (Nat. Genet. 2011)
    3. Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian children. (PubMed id 20473688)1, 4 Amre D.K....Levy E. (Hum. Genet. 2010)
    4. Common variants at five new loci associated with early-onset inflammatory bowel disease. (PubMed id 19915574)1, 4 Imielinski M....Hakonarson H. (Nat. Genet. 2009)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)
    8. Identification of CT46/HORMAD1, an immunogenic cancer/testis antigen encoding a putative meiosis-related protein. (PubMed id 15999985)2 Chen Y.-T.... Simpson A.J.G. (Cancer Immun. 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 150280 HGNC: 28383 AceView: MGC26710 Ensembl:ENSG00000176635 euGenes: HUgn150280
    ECgene: HORMAD2 H-InvDB: HORMAD2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HORMAD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HORMAD2 gene:
    Search GeneIP for patents involving HORMAD2

    GeneCards and IP:
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