HORMAD2 (HORMA domain containing 2)

Gene

• Entrez ID: 150280
• Gene name: HORMA domain containing 2
• Gene symbol: HORMAD2
• Synonyms (NCBI Gene): CT46.2
• Chromosome: 22
• Chromosome location: 22q12.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019018	hsa-miR-335-5p	Microarray	18185580
MIRT647091	hsa-miR-589-5p	HITS-CLIP	23824327
MIRT647089	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT647088	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT647086	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT647087	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT647085	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT647091	hsa-miR-589-5p	HITS-CLIP	23824327
MIRT647089	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT647088	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT647086	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT647087	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT647085	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT1053024	hsa-miR-1237	CLIP-seq
MIRT1053025	hsa-miR-1248	CLIP-seq
MIRT1053026	hsa-miR-128	CLIP-seq
MIRT1053027	hsa-miR-183	CLIP-seq
MIRT1053028	hsa-miR-199a-3p	CLIP-seq
MIRT1053029	hsa-miR-199b-3p	CLIP-seq
MIRT1053030	hsa-miR-27a	CLIP-seq
MIRT1053031	hsa-miR-27b	CLIP-seq
MIRT1053032	hsa-miR-3074-5p	CLIP-seq
MIRT1053033	hsa-miR-3121-3p	CLIP-seq
MIRT1053034	hsa-miR-3121-5p	CLIP-seq
MIRT1053035	hsa-miR-3124-3p	CLIP-seq
MIRT1053036	hsa-miR-3129-5p	CLIP-seq
MIRT1053037	hsa-miR-3613-3p	CLIP-seq
MIRT1053038	hsa-miR-3617	CLIP-seq
MIRT1053039	hsa-miR-370	CLIP-seq
MIRT1053040	hsa-miR-4315	CLIP-seq
MIRT1053041	hsa-miR-4639-5p	CLIP-seq
MIRT1053042	hsa-miR-4668-3p	CLIP-seq
MIRT1053043	hsa-miR-4766-3p	CLIP-seq
MIRT1053044	hsa-miR-4799-5p	CLIP-seq
MIRT1053045	hsa-miR-500a	CLIP-seq
MIRT1053046	hsa-miR-513a-5p	CLIP-seq
MIRT1053047	hsa-miR-548c-3p	CLIP-seq
MIRT1053048	hsa-miR-548p	CLIP-seq
MIRT1053049	hsa-miR-641	CLIP-seq
MIRT1053032	hsa-miR-3074-5p	CLIP-seq
MIRT1053035	hsa-miR-3124-3p	CLIP-seq
MIRT1053038	hsa-miR-3617	CLIP-seq
MIRT1053039	hsa-miR-370	CLIP-seq
MIRT1053041	hsa-miR-4639-5p	CLIP-seq
MIRT1053049	hsa-miR-641	CLIP-seq
MIRT1053032	hsa-miR-3074-5p	CLIP-seq
MIRT1053035	hsa-miR-3124-3p	CLIP-seq
MIRT1053038	hsa-miR-3617	CLIP-seq
MIRT1053039	hsa-miR-370	CLIP-seq
MIRT1053041	hsa-miR-4639-5p	CLIP-seq
MIRT1053049	hsa-miR-641	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000795	Component	Synaptonemal complex	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0051177	Process	Meiotic sister chromatid cohesion	IEA
GO:0051177	Process	Meiotic sister chromatid cohesion	ISS
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051321	Process	Meiotic cell cycle	ISS

Other IDs

• MIM: 618842
• HGNC: 28383
• e!Ensembl: ENSG00000176635

Protein

• UniProt ID: Q8N7B1
• Protein name: HORMA domain-containing protein 2
• Protein 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02301	HORMA	31 → 228	HORMA domain	Domain

• Tissue specificity: 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. {ECO:0000269|PubMed:15999985, ECO:0000269|PubMed:
• Sequence:

  MATAQLSHCITIHKASKETVFPSQITNEHESLKMVKKLFATSISCITYLRGLFPESSYGE
  RHLDDLSLKILREDKKCPGSLHIIRWIQGCFDALEKRYLRMAVLTLYTDPMGSEKVTEMY
  QFKFKYTKEGATMDFDSHSSSTSFESGTNNEDIKKASVLLIRKLYILMQDLEPLPNNVVL
  TMKLHYYNAVTPHDYQPLGFKEGVNSHFLLFDKEPINVQVGFVSTGFHSMKVKVMTEATK
  VIDLENNLFRENSTTEIAHQGLDCDEEEECNDHIQRMNFVCSQQSSECSRKKRKVSEPVK
  VFIPNRK

• Sequence length: 307

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF PHARYNX	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONSILLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia	Azoospermia	Pubtator	24803422	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	21725308, 24797335		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919, 28067908		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	25751624		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30054458		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	30042224, 37685869	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	23072577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	GWASCAT_DG	25305756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune System Diseases	Immune system disease	Pubtator	37685869	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	19915574, 23128233		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	19915574, 23128233, 26192919, 28067908		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19915574	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	GWASCAT_DG	21399633		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	GWASDB_DG	21399633		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21725308, 24797335		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	21725308		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30039914		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30039914		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28955037		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	24803422		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24797335		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30039914		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30039914		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26192919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations