Aliases for HORMAD2 Gene

Aliases for HORMAD2 Gene

  • HORMA Domain Containing 2 2 3 5
  • HORMA Domain-Containing Protein 2 3 4
  • CT46.2 2 3
  • MGC26710 2
  • HORMAD2 5

External Ids for HORMAD2 Gene

Previous GeneCards Identifiers for HORMAD2 Gene

  • GC22P028802
  • GC22P030479
  • GC22P013438

Summaries for HORMAD2 Gene

GeneCards Summary for HORMAD2 Gene

HORMAD2 (HORMA Domain Containing 2) is a Protein Coding gene. Diseases associated with HORMAD2 include Nephrotic Syndrome, Type 7 and Autoimmune Glomerulonephritis. An important paralog of this gene is HORMAD1.

UniProtKB/Swiss-Prot Summary 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 , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HORMAD2 Gene

Genomics for HORMAD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HORMAD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J030079 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.0 32 1 RXRA HNF4A PRDM10 SP1 HORMAD2-AS1 HORMAD2 RF00017-3796 lnc-LIF-4 lnc-ASCC2-1 LIF
GH22J030078 Enhancer 0.6 ENCODE 250.7 -1.1 -1053 0.8 EBF1 BATF ELF1 ZNF362 TCF7 JUNB IKZF1 OSR2 IKZF2 EED HORMAD2-AS1 HORMAD2 RF00017-3796 lnc-LIF-4 ASCC2 piR-57133-390 lnc-ASCC2-1 MTMR3
GH22J030054 Enhancer 1 Ensembl ENCODE 13 -25.3 -25268 0.4 FEZF1 MBD2 FOXA2 SMAD4 SAP130 CTBP1 RARA TEAD3 BCL6 CREM HORMAD2 HORMAD2-AS1 RNU5F-5P LIF ASCC2 CNN2P1 piR-45471-403 lnc-ASCC2-1 MTMR3
GH22J030031 Enhancer 0.6 Ensembl 12.4 -46.0 -46010 6.1 IKZF1 RXRA JUND FOSL1 SPI1 GLIS1 SP7 FOSL2 ATF3 CREB1 HORMAD2-AS1 MTMR3 ASCC2 HORMAD2 RNU5F-5P LIF LIF-AS1 piR-34632 CNN2P1 lnc-ASCC2-1
GH22J030043 Enhancer 1.2 FANTOM5 Ensembl ENCODE 0.3 -35.9 -35868 2.8 FEZF1 CEBPB CUX1 ZNF639 EP300 RXRA ZNF843 KLF9 FOXA2 ZBTB33 PES1 TUG1 HORMAD2-AS1 MTMR3 CCDC157 OSM CNN2P1 piR-34632 HORMAD2 lnc-ASCC2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HORMAD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HORMAD2

Top Transcription factor binding sites by QIAGEN in the HORMAD2 gene promoter:
  • aMEF-2
  • c-Myb
  • IRF-7A
  • MEF-2A
  • Nkx2-5
  • POU2F2C
  • POU6F1 (c2)
  • RORalpha1
  • RORalpha2
  • S8

Genomic Locations for HORMAD2 Gene

Latest Assembly
chr22:30,080,069-30,207,425
(GRCh38/hg38)
Size:
127,357 bases
Orientation:
Plus strand

Previous Assembly
chr22:30,476,453-30,573,064
(GRCh37/hg19 by Entrez Gene)
Size:
96,612 bases
Orientation:
Plus strand

chr22:30,476,163-30,573,064
(GRCh37/hg19 by Ensembl)
Size:
96,902 bases
Orientation:
Plus strand

Genomic View for HORMAD2 Gene

Genes around HORMAD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HORMAD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HORMAD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for HORMAD2 Gene

No data available for DME Specific Peptides for HORMAD2 Gene

Domains & Families for HORMAD2 Gene

Gene Families for HORMAD2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HORMAD2 Gene

InterPro:
Blocks:
  • DNA-binding HORMA
ProtoNet:

Suggested Antigen Peptide Sequences for HORMAD2 Gene

GenScript: Design optimal peptide antigens:
  • HORMA domain-containing protein 2 (HORM2_HUMAN)
genes like me logo Genes that share domains with HORMAD2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for HORMAD2 Gene

Gene Ontology (GO) - Molecular Function for HORMAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HORMAD2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HORMAD2 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Centrosome (1)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HORMAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000795 synaptonemal complex IEA --
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome ISS --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with HORMAD2: view

Pathways & Interactions for HORMAD2 Gene

PathCards logo

SuperPathways for HORMAD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HORMAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051177 meiotic sister chromatid cohesion IEA,ISS --
GO:0051321 meiotic cell cycle ISS --
genes like me logo Genes that share ontologies with HORMAD2: view

No data available for Pathways by source and SIGNOR curated interactions for HORMAD2 Gene

Drugs & Compounds for HORMAD2 Gene

No Compound Related Data Available

Transcripts for HORMAD2 Gene

mRNA/cDNA for HORMAD2 Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HORMAD2

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

No ASD Table

Relevant External Links for HORMAD2 Gene

GeneLoc Exon Structure for
HORMAD2

Expression for HORMAD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x43.3).

Protein differential expression in normal tissues from HIPED for HORMAD2 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HORMAD2 Gene



Protein tissue co-expression partners for HORMAD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HORMAD2

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 expression patterns with HORMAD2: view

Primer products for research

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HORMAD2 Gene

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 30 31
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HORMAD2 30 31
  • 90.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HORMAD2 31
  • 85 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Hormad2 30 17 31
  • 83.28 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HORMAD2 31
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HORMAD2 31
  • 30 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HORMAD2 30 31
  • 68.66 (n)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii zte38 31
  • 38 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HOP1 31
  • 9 (a)
OneToMany
Species where no ortholog for HORMAD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for HORMAD2: view image

Paralogs for HORMAD2 Gene

Paralogs for HORMAD2 Gene

(1) SIMAP similar genes for HORMAD2 Gene using alignment to 2 proteins:

  • HORM2_HUMAN
  • F8WES9_HUMAN
genes like me logo Genes that share paralogs with HORMAD2: view

Variants for HORMAD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HORMAD2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs34305723 Benign: not provided. - 30,098,858(+) G/Cp.Val20Leu
NM_152510.4(HORMAD2):c.58G>C (p.Val20Leu)
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs34150968 - p.Ala2Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HORMAD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2663065 CNV deletion 23128226
nsv1110864 OTHER inversion 24896259
nsv1119500 CNV insertion 24896259
nsv191239 CNV insertion 16902084
nsv507932 OTHER sequence alteration 20534489
nsv527188 CNV gain 19592680
nsv588884 CNV loss 21841781
nsv834173 CNV loss 17160897
nsv966100 CNV duplication 23825009

Variation tolerance for HORMAD2 Gene

Residual Variation Intolerance Score: 77.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HORMAD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HORMAD2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HORMAD2 Gene

Disorders for HORMAD2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HORMAD2 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HORMAD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HORMAD2: view

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

Publications for HORMAD2 Gene

  1. HORMAD2/CT46.2, a novel cancer/testis gene, is ectopically expressed in lung cancer tissues. (PMID: 22893617) Liu M … Sha J (Molecular human reproduction 2012) 3 4
  2. HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. (PMID: 23039116) Kogo H … Kurahashi H (Genes to cells : devoted to molecular & cellular mechanisms 2012) 2 3
  3. Genome-wide association study identifies susceptibility loci for IgA nephropathy. (PMID: 21399633) Gharavi AG … Lifton RP (Nature genetics 2011) 3 41
  4. Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian children. (PMID: 20473688) Amre DK … Levy E (Human genetics 2010) 3 41
  5. Common variants at five new loci associated with early-onset inflammatory bowel disease. (PMID: 19915574) Imielinski M … Hakonarson H (Nature genetics 2009) 3 41

Products for HORMAD2 Gene

Sources for HORMAD2 Gene