Aliases for HORMAD2 Gene
Aliases for HORMAD2 Gene
External Ids for HORMAD2 Gene
- HGNC: 28383
- Entrez Gene: 150280
- Ensembl: ENSG00000176635
- UniProtKB: Q8N7B1
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. 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).
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HORMAD2 Gene
Genomics for HORMAD2 Gene
Regulatory Elements for HORMAD2 Gene
Enhancers for HORMAD2 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH22G030078 | 0.7 | ENCODE | 0.7 | -1.1 | -1053 | 0.8 | RFX1 ZNF362 JUNB EBF1 RELA ZNF664 OSR2 NFIC EED IKZF1 | HORMAD2-AS1 ASCC2 HORMAD2 CNN2P1 |
| GH22G030080 | 0.4 | ENCODE | 0.7 | +0.3 | 318 | 0.2 | HNF4A | HORMAD2 HORMAD2-AS1 |
| GH22G030062 | 0.7 | ENCODE | 0.4 | -17.1 | -17142 | 1.7 | SOX5 SOX13 TFAP4 FOXA2 MIER1 FOXA3 MIER2 REST FOXA1 NFIC | HORMAD2-AS1 MTMR3 HORMAD2 CNN2P1 |
| GH22G030054 | 0.9 | ENCODE | 0.3 | -25.1 | -25143 | 0.1 | PKNOX1 FOXA2 ARID4B FEZF1 RAD21 RARA GATA4 CREM THAP11 KLF11 | LIF ASCC2 CNN2P1 HORMAD2 |
| GH22G030047 | 0.7 | ENCODE | 0.3 | -32.6 | -32573 | 0.2 | HDAC1 CTCF IRF2 SAP130 ETV1 KLF17 ZBTB40 STAT2 ZNF584 ZNF639 | RNU5F-5P CNN2P1 HORMAD2 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HORMAD2 on UCSC Golden Path with GeneCards custom track
Promoters for HORMAD2 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|---|---|---|
| ENSR00000145161 | 131 | 401 | HNF4A |
- Transcription factor binding sites by QIAGEN in the HORMAD2 gene promoter:
Regulatory Element Products
Genomic Location for HORMAD2 Gene
- Chromosome:
- 22
- Start:
- 30,080,069 bp from pter
- End:
- 30,210,882 bp from pter
- Size:
- 130,814 bases
- Orientation:
- Plus strand
Genomic View for HORMAD2 Gene
Genes around HORMAD2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q12.2 by Ensembl
- 22q12.2 by Entrez Gene
- 22q12.2 by HGNC
HORMAD2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B5MEB2
- Q8NHR2
Protein attributes for HORMAD2 Gene
- Size:
- 307 amino acids
- Molecular mass:
- 35284 Da
- Quaternary structure:
-
- Interacts with HORMAD1.
Protein Expression for HORMAD2 Gene
Post-translational modifications for HORMAD2 Gene
- Phosphorylated in a SPO11-dependent manner.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for HORMAD2 Gene
Antibody Products
- Novus Biologicals Antibodies for HORMAD2
-
Abcam antibodies for HORMAD2
- Invitrogen Antibodies for HORMAD2
- antibodies-online Antibodies for HORMAD2: See all 29
- GeneTex HORMAD2 antibody for HORMAD2
Protein Products
-
OriGene Purified Proteins for HORMAD2
- Search Origene for MassSpec and Protein Over-expression Lysates for HORMAD2
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- antibodies-online Proteins for HORMAD2: See all 7
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HORMAD2
-
Abcam proteins for HORMAD2
Assay Products
- antibodies-online Kits for HORMAD2: See all 4
No data available for DME Specific Peptides for HORMAD2 Gene
Domains & Families for HORMAD2 Gene
Protein Domains for HORMAD2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HORMAD2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families 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 for HORMAD2 Gene
- MGI mutant phenotypes for HORMAD2:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for HORMAD2:
Animal Models for HORMAD2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HORMAD2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HORMAD2 gene
- Search ViGene Biosciences for HORMAD2
CRISPR Products
-
OriGene CRISPR knockouts for HORMAD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for HORMAD2
- GenScript: Design CRISPR guide RNA sequences for HORMAD2
miRNA for HORMAD2 Gene
- miRTarBase miRNAs that target HORMAD2
miRNA Products
- Search ViGene Biosciences for HORMAD2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HORMAD2
- Browse OriGene Inhibitory RNA Products For HORMAD2
-
ViGene Biosciences ready-to-package AAV shRNAs for HORMAD2 gene
Clone Products
-
OriGene ORF clones in human for HORMAD2
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Cell Line Products
-
Horizon Cell Lines for HORMAD2
-
ViGene Biosciences adenoviral particle packaged cDNA for HORMAD2 gene
-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000795 | synaptonemal complex | IEA | -- |
| GO:0005634 | nucleus | ISS | -- |
| GO:0005694 | chromosome | ISS | -- |
Pathways & Interactions for HORMAD2 Gene
No Data Available
Interacting Proteins for HORMAD2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007126 | meiotic nuclear division | ISS | -- |
| GO:0051177 | meiotic sister chromatid cohesion | ISS | -- |
| GO:0051321 | meiotic cell cycle | ISS,IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for HORMAD2 Gene
Transcripts for HORMAD2 Gene
mRNA/cDNA for HORMAD2 Gene
- (11) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (24) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HORMAD2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HORMAD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for HORMAD2
- GenScript: Design CRISPR guide RNA sequences for HORMAD2
miRNA Products
- Search ViGene Biosciences for HORMAD2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HORMAD2
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-
ViGene Biosciences ready-to-package AAV shRNAs for HORMAD2 gene
Clone Products
-
OriGene ORF clones in human for HORMAD2
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Flow Cytometry Products
Expression for HORMAD2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Gonad
- XX Germ Cells Ovigerous Cord
- XY Germ Cells Testis Cord
-
Eye (Sensory Organs)
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Epithelial Cells
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Ovary (Reproductive System)
- XX Germ Cells Ovigerous Cord
-
Testis (Reproductive System)
- XY Germ Cells Testis Cord
mRNA differential expression in normal tissues according to GTEx for HORMAD2 Gene
This gene is overexpressed in Testis (x43.3).
This gene is overexpressed in Testis (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HORMAD2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HORMAD2 Gene:
HORMAD2SOURCE GeneReport for Unigene cluster for HORMAD2 Gene:
Hs.120391mRNA 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.
Primer Products
-
OriGene qPCR primer pairs for HORMAD2
-
OriGene qPCR primer pairs and template standards for HORMAD2
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HORMAD2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HORMAD2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HORMAD2 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Hormad2 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HORMAD2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HORMAD2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HORMAD2 34 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zte38 35 |
|
ManyToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HOP1 35 |
|
OneToMany |
- Species where no ortholog for HORMAD2 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for HORMAD2 Gene
(1) SIMAP similar genes for HORMAD2 Gene using alignment to 2 proteins:
Variants for HORMAD2 Gene
| SNP ID | Clin | Chr 22 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000010554 | -- | 30,095,752(+) | ACTGC(A/G)TAAGA | intron-variant | |
| rs1000035383 | -- | 30,137,073(+) | AATCA(C/T)TGATA | intron-variant | |
| rs1000044166 | -- | 30,186,631(+) | TATCA(A/G)CCATT | intron-variant | |
| rs1000090365 | -- | 30,136,811(+) | GGCTT(-/C)TTTAT | intron-variant | |
| rs1000094448 | -- | 30,157,789(+) | ACTCA(A/G)AGATC | intron-variant |
| 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 |
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)
Relevant External Links for HORMAD2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HORMAD2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HORMAD2 Gene
Disorders for HORMAD2 Gene
Relevant External Links for HORMAD2
No disorders were found for HORMAD2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HORMAD2 Gene
Publications for HORMAD2 Gene
- HORMAD2/CT46.2, a novel cancer/testis gene, is ectopically expressed in lung cancer tissues. (PMID: 22893617) Liu M. … Sha J. (Mol. Hum. Reprod. 2012) 3 4 64
- Genome-wide association study identifies susceptibility loci for IgA nephropathy. (PMID: 21399633) Gharavi A.G. … Lifton R.P. (Nat. Genet. 2011) 3 46 64
- 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 46 64
- Common variants at five new loci associated with early-onset inflammatory bowel disease. (PMID: 19915574) Imielinski M. … Hakonarson H. (Nat. Genet. 2009) 3 46 64
- 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 64
Products for HORMAD2 Gene
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- OriGene Purified Proteins for HORMAD2
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- Novus Biologicals Antibodies for HORMAD2
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- Abcam antibodies for HORMAD2
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- antibodies-online Antibodies for HORMAD2: See all 29
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- ViGene Biosciences adenoviral particle packaged cDNA for HORMAD2 gene
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- Horizon Cell Lines for HORMAD2
- Cyagen custom Knockout/knockin (KOKI) mouse models for HORMAD2
- VectorBuilder custom plasmid, inducible vectors for HORMAD2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HORMAD2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HORMAD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer