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(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000795	Component	Synaptonemal complex	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	ISS
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0051177	Process	Meiotic sister chromatid cohesion	ISS
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 Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451 View all (71 more)	29059683
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	25751624, 30054458
Glomerulonephritis	IGA Glomerulonephritis	rs778043831	25305756
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)	30595370
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	23128233, 19915574, 28067908, 26192919
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	21399633
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	21725308
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039 View all (4 more)	22190364

Show/Hide Unknown Diseases (10)

Disease term	Disease name	Evidence	References	Source
Unknown
Crohn disease	Crohn Disease		26192919, 28067908	ClinVar
Diabetes	Diabetes			GWAS
Crohn Disease	Crohn Disease			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Moyamoya Disease	Moyamoya Disease			GWAS
Breast cancer	Breast cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Ulcerative colitis	Ulcerative colitis			GWAS
Dementia	Dementia			GWAS
Dental caries	Dental caries			GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA

Show/Hide Text Mining Associations (4)

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

HORMAD2 (HORMA domain containing 2)