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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84072
Gene name	HORMA domain containing 1
Gene symbol	HORMAD1
Synonyms (NCBI Gene)	CT46NOHMA
Chromosome	1
Chromosome location	1q21.3
Summary	This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments
MIRT1053010	hsa-miR-3177-5p	CLIP-seq
MIRT1053011	hsa-miR-3591-5p	CLIP-seq
MIRT1053012	hsa-miR-4280	CLIP-seq
MIRT1053013	hsa-miR-548ae	CLIP-seq
MIRT1053014	hsa-miR-548aj	CLIP-seq
MIRT1053015	hsa-miR-548am	CLIP-seq
MIRT1053016	hsa-miR-548x	CLIP-seq
MIRT1053017	hsa-miR-1182	CLIP-seq
MIRT1053018	hsa-miR-205	CLIP-seq
MIRT1053019	hsa-miR-4328	CLIP-seq
MIRT1053020	hsa-miR-4694-3p	CLIP-seq
MIRT1053021	hsa-miR-4710	CLIP-seq
MIRT1053022	hsa-miR-4792	CLIP-seq
MIRT1053023	hsa-miR-522	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000795	Component	Synaptonemal complex	IEA
GO:0001824	Process	Blastocyst development	IEA
GO:0001824	Process	Blastocyst development	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007130	Process	Synaptonemal complex assembly	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0042138	Process	Meiotic DNA double-strand break formation	IEA
GO:0042138	Process	Meiotic DNA double-strand break formation	ISS
GO:0048477	Process	Oogenesis	IEA
GO:0048477	Process	Oogenesis	ISS
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
GO:0051598	Process	Meiotic recombination checkpoint signaling	IEA
GO:0051598	Process	Meiotic recombination checkpoint signaling	ISS
GO:0060629	Process	Regulation of homologous chromosome segregation	IEA
GO:0060629	Process	Regulation of homologous chromosome segregation	ISS

MIM	HGNC	e!Ensembl
609824	25245	ENSG00000143452

Q86X24

Protein name

HORMA domain-containing protein 1 (Cancer/testis antigen 46) (CT46) (Newborn ovary HORMA protein)

Protein function

Plays a key role in meiotic progression. Regulates 3 different functions during meiosis: ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state num

PDB

8J69

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02301	HORMA	26 → 220	HORMA domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Testis-specific. Over-expressed in carcinomas. {ECO:0000269|PubMed:15999985}.

Sequence

MATAQLQRTPMSALVFPNKISTEHQSLVLVKRLLAVSVSCITYLRGIFPECAYGTRYLDD
LCVKILREDKNCPGSTQLVKWMLGCYDALQKKYLRMVVLAVYTNPEDPQTISECYQFKFK
YTNNGPLMDFISKNQSNESSMLSTDTKKASILLIRKIYILMQNLGPLPNDVCLTMKLFYY
DEVTPPDYQPPGFKDGDCEGVIFEGEPMYLNVGEVSTPFHIFKVKVTTERERMENIDSTI
LSPKQIKTPFQKILRDKDVEDEQEHYTSDDLDIETKMEEQEKNPASSELEEPSLVCEEDE
IMRSKESPDLSISHSQVEQLVNKTSELDMSESKTRSGKVFQNKMANGNQPVKSSKENRKR
SQHESGRIVLHHFDSSSQESVPKRRKFSEPKEHI

Sequence length

394

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Male infertility	Pathogenic	rs2524906308	RCV002292425	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL TACHYCARDIA	—	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

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30185546, 30333500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	22407170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	22407170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24764584, 38467851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37371097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22776561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29081791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	37838177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16331256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30046392, 30185546, 30333500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22776561, 30046392, 30185546		★★★★★ ★☆☆☆☆ 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	30185546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29081791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	28342926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16331256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25770156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25770156, 34036395, 35768547, 36852691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HORMAD1 (HORMA domain containing 1)