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Aliases for HORMAD2 Gene

Aliases for HORMAD2 Gene

  • HORMA Domain Containing 2 2 3
  • HORMA Domain-Containing Protein 2 3
  • CT46.2 3

External Ids for HORMAD2 Gene

Summaries for HORMAD2 Gene

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 for HORMAD2 Gene

  • 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

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HORMAD2 Gene

Genomics for HORMAD2 Gene

Genomic Location for HORMAD2 Gene

Start:
30,080,174 bp from pter
End:
30,177,075 bp from pter
Size:
96,902 bases
Orientation:
Plus strand

Genomic View for HORMAD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HORMAD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HORMAD2 Gene

Regulatory Elements for HORMAD2 Gene

Proteins for HORMAD2 Gene

  • Protein details for HORMAD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N7B1-HORM2_HUMAN
    Recommended name:
    HORMA domain-containing protein 2
    Protein Accession:
    Q8N7B1
    Secondary Accessions:
    • B5MEB2
    • Q8NHR2

    Protein attributes for HORMAD2 Gene

    Size:
    307 amino acids
    Molecular mass:
    35284 Da
    Quaternary structure:
    • Interacts with HORMAD1.

neXtProt entry for HORMAD2 Gene

Proteomics data for HORMAD2 Gene at MOPED

Post-translational modifications for HORMAD2 Gene

Other Protein References for HORMAD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HORMAD2 Gene

Domains for HORMAD2 Gene

Protein Domains for HORMAD2 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

HORM2_HUMAN
Domain:
  • Contains 1 HORMA domain.:
    • Q8N7B1
genes like me logo Genes that share domains with HORMAD2: view

No data available for Gene Families for HORMAD2 Gene

Function for HORMAD2 Gene

Molecular function for HORMAD2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for HORMAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with HORMAD2: view
genes like me logo Genes that share phenotypes with HORMAD2: view

Animal Models for HORMAD2 Gene

MGI Knock Outs for HORMAD2:

miRNA for HORMAD2 Gene

miRTarBase miRNAs that target HORMAD2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HORMAD2 Gene

Localization for HORMAD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HORMAD2 Gene

Nucleus. Chromosome. 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HORMAD2 Gene COMPARTMENTS Subcellular localization image for HORMAD2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HORMAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005694 chromosome ISS --
genes like me logo Genes that share ontologies with HORMAD2: view

Pathways for HORMAD2 Gene

SuperPathways for HORMAD2 Gene

No Data Available

Interacting Proteins for HORMAD2 Gene

Gene Ontology (GO) - Biological Process for HORMAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007126 meiotic nuclear division ISS --
GO:0051177 meiotic sister chromatid cohesion ISS --
genes like me logo Genes that share ontologies with HORMAD2: view

No data available for Pathways by source for HORMAD2 Gene

Transcripts for HORMAD2 Gene

Unigene Clusters for HORMAD2 Gene

HORMA domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HORMAD2 Gene

No ASD Table

Relevant External Links for HORMAD2 Gene

GeneLoc Exon Structure for
HORMAD2
ECgene alternative splicing isoforms for
HORMAD2

Expression for HORMAD2 Gene

mRNA expression in normal human tissues for HORMAD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HORMAD2 Gene

This gene is overexpressed in Testis (43.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HORMAD2 Gene

SOURCE GeneReport for Unigene cluster for HORMAD2 Gene Hs.120391

mRNA Expression by UniProt/SwissProt for HORMAD2 Gene

Q8N7B1-HORM2_HUMAN
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.
genes like me logo Genes that share expressions with HORMAD2: view

Orthologs for HORMAD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HORMAD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HORMAD2 36
  • 99.57 (n)
  • 99.67 (a)
HORMAD2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HORMAD2 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HORMAD2 36
  • 90.82 (n)
  • 87.87 (a)
HORMAD2 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hormad2 36
  • 83.28 (n)
  • 77.38 (a)
Hormad2 16
Hormad2 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HORMAD2 37
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HORMAD2 37
  • 30 (a)
OneToOne
chicken
(Gallus gallus)
Aves HORMAD2 36
  • 68.66 (n)
  • 61.42 (a)
HORMAD2 37
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zte38 37
  • 38 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HOP1 37
  • 9 (a)
OneToMany
Species with no ortholog for HORMAD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HORMAD2 Gene

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

Paralogs for HORMAD2 Gene

Paralogs for HORMAD2 Gene

Selected SIMAP similar genes for HORMAD2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HORMAD2: view

Variants for HORMAD2 Gene

Sequence variations from dbSNP and Humsavar for HORMAD2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs718772 -- 30,108,218(+) tctca(A/G)tccct intron-variant
rs718773 -- 30,108,122(+) TTCTT(C/T)AAAAT intron-variant
rs737901 -- 30,154,391(+) CTGAG(C/T)CATTT intron-variant
rs766011 -- 30,120,938(-) CAACC(C/T)GTCAT intron-variant
rs975704 -- 30,176,747(+) AATCC(A/G)AAACA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HORMAD2 Gene

Variant ID Type Subtype PubMed ID
nsv507932 CNV Insertion 20534489
nsv834173 CNV Loss 17160897
nsv527188 CNV Gain 19592680
esv2663065 CNV Deletion 23128226
nsv191239 CNV Insertion 16902084

Relevant External Links for HORMAD2 Gene

HapMap Linkage Disequilibrium report
HORMAD2

Disorders for HORMAD2 Gene

Relevant External Links for HORMAD2

Genetic Association Database (GAD)
HORMAD2
Human Genome Epidemiology (HuGE) Navigator
HORMAD2
genes like me logo Genes that share disorders with HORMAD2: view

No data available for UniProtKB/Swiss-Prot for HORMAD2 Gene

Publications for HORMAD2 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  2. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4
  3. Common variants at five new loci associated with early-onset inflammatory bowel disease. (PMID: 19915574) Imielinski M. … Hakonarson H. (Nat. Genet. 2009) 3 49
  4. Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian children. (PMID: 20473688) Amre D.K. … Levy E. (Hum. Genet. 2010) 3 49
  5. Genome-wide association study identifies susceptibility loci for IgA nephropathy. (PMID: 21399633) Gharavi A.G. … Lifton R.P. (Nat. Genet. 2011) 3 49

Products for HORMAD2 Gene

Sources for HORMAD2 Gene

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