• Gene id: 150280

Gene Summary

• Gene Symbol: HORMAD2   Gene   UCSC   Ensembl
• Aliases: CT46.2
• Gene name: HORMA domain containing 2
• Alternate names: HORMA domain-containing protein 2,
• Gene location: 22q12.2 (30080068: 30207424)     Exons: 16     NC_000022.11
• OMIM: 0

SNPs

rs718772

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30108218A>C
NC_000022.11   g.30108218A>G
NC_000022.10   g.30504207A>C
NC_000022.10   g.30504207A>G|SEQ=[A/C/G]|GENE=HORMAD2

rs8135823

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30126470T>G
NC_000022.10   g.30522459T>G|SEQ=[T/G]|GENE=HORMAD2

rs11090601

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30171741A>C
NC_000022.10   g.30567730A>C|SEQ=[A/C]|GENE=HORMAD2

rs4823073

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30116269G>A
NC_000022.10   g.30512258G>A|SEQ=[G/A]|GENE=HORMAD2

rs9620953

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30150256C>T
NC_000022.10   g.30546245C>T|SEQ=[C/T]|GENE=HORMAD2

rs9625930

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30152633G>A
NC_000022.10   g.30548622G>A|SEQ=[G/A]|GENE=HORMAD2

rs975704

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30176747G>A
NC_000022.10   g.30572736G>A
NM_152510.3   c.*580G>A
NM_152510.4   c.*580G>A
NM_152510.2   c.*580G>A
XM_011529917.3   c.*580G>A
NM_001329457.1   c.*580G>A
NM_001329457.2   c.*580G>A
NM_001329458.1   c.*580G>A
NM_001329458.2   c.*580G>A|SEQ=[

Protein Summary

• Protein general information: Q8N7B1  
  • Name: HORMA domain containing protein 2
  • Length: 307  
  • Mass: 35,284
• Sequence:

  MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGERHLDDLSLKILREDK
  KCPGSLHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMYQFKFKYTKEGATMDFDSHSSSTSFESGTNN
  EDIKKASVLLIRKLYILMQDLEPLPNNVVLTMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVST
  GFHSMKVKVMTEATKVIDLENNLFRENSTTEIAHQGLDCDEEEECNDHIQRMNFVCSQQSSECSRKKRKVSEPVK
  VFIPNRK

• Structural information:
  • Protein Domains: HORMA. (29-234)
  • Interpro: IPR003511  IPR036570  
  • Prosite: PS50815
  • STRING: ENSP00000336984
• Other Databases: GeneCards:  HORMAD2  Malacards:  HORMAD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005694	chromosome	ISS	cellular component
GO:0007126	meiotic nuclear division	ISS	biological process
GO:0051177	meiotic sister chromatid cohesion	ISS	biological process
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	ISS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0007126	meiotic nuclear division	IEA	biological process
GO:0007126	meiotic nuclear division	ISS	biological process
GO:0051177	meiotic sister chromatid cohesion	IEA	biological process
GO:0051177	meiotic sister chromatid cohesion	ISS	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005694	chromosome	ISS	cellular component
GO:0007126	meiotic nuclear division	ISS	biological process
GO:0051177	meiotic sister chromatid cohesion	ISS	biological process

Diseases

Associated diseases	References
Crohn's disease	GAD: 20473688
Inflammatory bowel disease	GAD: 19915574
Male factor infertility	MIK: 24803422
Non obstructive azoospermia	MIK: 24803422
Hypospermatogenesis	MIK: 28361989
Non-obstructive azoospermia	MIK: 24803422
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24803422	Non-obstructive azoospermia	rs8135823 G/T, rs11090601 C/A, rs4823073 A/G, rs718772 A/G, rs9620953 T/C, rs9625930 A/G and rs975704 A/G	Chinese	729 (361 NOA cases, 368 normal controls)	Male infertility	Hormad1 Hormad2
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray