Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	150280
Gene name Gene Name - the full gene name approved by the HGNC.	HORMA domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HORMAD2
Synonyms (NCBI Gene) Gene synonyms aliases	CT46.2
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q12.2

Show/Hide all(51)

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

Show/Hide all(13)

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

MIM	HGNC	e!Ensembl
618842	28383	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

Interactions

View interactions

Show/Hide Unknown Diseases (12)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast cancer	Breast cancer	N/A	N/A	GWAS
Breast Cancer	Postmenopausal breast cancer	N/A	N/A	GWAS
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Dementia	Dementia	N/A	N/A	GWAS
Dental caries	Dental caries	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Diabetes	Type 1 diabetes	N/A	N/A	GWAS
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease, Inflammatory bowel disease (MTAG), Inflammatory bowel disease (early onset)	N/A	N/A	GWAS
Moyamoya Disease	Moyamoya disease	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Ulcerative colitis	Ulcerative colitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Azoospermia	Associate	24803422
Glomerulonephritis IGA	Associate	30042224, 37685869
Immune System Diseases	Associate	37685869
Inflammatory Bowel Diseases	Associate	19915574

HORMAD2 (HORMA domain containing 2)