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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	161357
Gene name	MAM domain containing glycosylphosphatidylinositol anchor 2
Gene symbol	MDGA2
Synonyms (NCBI Gene)	MAMDC1c14_5286
Chromosome	14
Chromosome location	14q21.3

129

Show/Hide all (129)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017643	hsa-miR-335-5p	Microarray	18185580
MIRT613590	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT613589	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613588	hsa-miR-5696	HITS-CLIP	23824327
MIRT613587	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT613586	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT613585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT613584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT613583	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT613582	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613590	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT613589	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613587	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT613586	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT613585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT613584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT613583	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT613582	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613590	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT613589	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613588	hsa-miR-5696	HITS-CLIP	23824327
MIRT613587	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT613586	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT613585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT613584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT613583	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT613582	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613590	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT613589	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613588	hsa-miR-5696	HITS-CLIP	23824327
MIRT613587	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT613586	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT613585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT613584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT613583	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT613582	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613590	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT613589	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613588	hsa-miR-5696	HITS-CLIP	23824327
MIRT613587	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT613586	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT613585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT613584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT613583	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT613582	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613590	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT613589	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613587	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT613586	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT613585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT613584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT613583	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT613582	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613590	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT613589	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613588	hsa-miR-5696	HITS-CLIP	23824327
MIRT613587	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT613586	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT613585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT613584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT613583	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT613582	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613590	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT613589	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613588	hsa-miR-5696	HITS-CLIP	23824327
MIRT613587	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT613586	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT613585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT613584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT613583	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT613582	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1138572	hsa-miR-1202	CLIP-seq
MIRT1138573	hsa-miR-142-5p	CLIP-seq
MIRT1138574	hsa-miR-3115	CLIP-seq
MIRT1138575	hsa-miR-3194-5p	CLIP-seq
MIRT1138576	hsa-miR-3972	CLIP-seq
MIRT1138577	hsa-miR-4527	CLIP-seq
MIRT1138578	hsa-miR-4684-5p	CLIP-seq
MIRT1138579	hsa-miR-4693-5p	CLIP-seq
MIRT1138580	hsa-miR-4729	CLIP-seq
MIRT1138581	hsa-miR-548a-5p	CLIP-seq
MIRT1138582	hsa-miR-548ab	CLIP-seq
MIRT1138583	hsa-miR-548ak	CLIP-seq
MIRT1138584	hsa-miR-548b-5p	CLIP-seq
MIRT1138585	hsa-miR-548c-5p	CLIP-seq
MIRT1138586	hsa-miR-548d-5p	CLIP-seq
MIRT1138587	hsa-miR-548h	CLIP-seq
MIRT1138588	hsa-miR-548i	CLIP-seq
MIRT1138589	hsa-miR-548j	CLIP-seq
MIRT1138590	hsa-miR-548k	CLIP-seq
MIRT1138591	hsa-miR-548l	CLIP-seq
MIRT1138592	hsa-miR-548w	CLIP-seq
MIRT1138593	hsa-miR-548y	CLIP-seq
MIRT1138594	hsa-miR-559	CLIP-seq
MIRT1138595	hsa-miR-579	CLIP-seq
MIRT1138596	hsa-miR-3121-3p	CLIP-seq
MIRT1138597	hsa-miR-3136-5p	CLIP-seq
MIRT1138598	hsa-miR-3545-3p	CLIP-seq
MIRT1138599	hsa-miR-3647-3p	CLIP-seq
MIRT1138600	hsa-miR-4439	CLIP-seq
MIRT1138601	hsa-miR-4513	CLIP-seq
MIRT2039327	hsa-miR-129-5p	CLIP-seq
MIRT2039328	hsa-miR-548t	CLIP-seq
MIRT2453852	hsa-miR-3064-5p	CLIP-seq
MIRT2453853	hsa-miR-3148	CLIP-seq
MIRT2453854	hsa-miR-33a	CLIP-seq
MIRT2453855	hsa-miR-33b	CLIP-seq
MIRT2453856	hsa-miR-3652	CLIP-seq
MIRT2453857	hsa-miR-3978	CLIP-seq
MIRT2453858	hsa-miR-4430	CLIP-seq
MIRT2453859	hsa-miR-4505	CLIP-seq
MIRT2453860	hsa-miR-548a-3p	CLIP-seq
MIRT2453861	hsa-miR-548e	CLIP-seq
MIRT2453862	hsa-miR-548f	CLIP-seq
MIRT2453863	hsa-miR-586	CLIP-seq
MIRT2453864	hsa-miR-892b	CLIP-seq
MIRT2568576	hsa-miR-130a	CLIP-seq
MIRT2568577	hsa-miR-130b	CLIP-seq
MIRT2568578	hsa-miR-148a	CLIP-seq
MIRT2568579	hsa-miR-148b	CLIP-seq
MIRT2568580	hsa-miR-152	CLIP-seq
MIRT2568581	hsa-miR-301a	CLIP-seq
MIRT2568582	hsa-miR-301b	CLIP-seq
MIRT2568583	hsa-miR-3666	CLIP-seq
MIRT2568584	hsa-miR-4274	CLIP-seq
MIRT2568585	hsa-miR-4295	CLIP-seq
MIRT2568586	hsa-miR-4519	CLIP-seq
MIRT2568587	hsa-miR-4524	CLIP-seq
MIRT2568588	hsa-miR-454	CLIP-seq

Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007399	Process	Nervous system development	IBA
GO:0016020	Component	Membrane	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	ISS	15019943
GO:0098552	Component	Side of membrane	IEA

MIM	HGNC	e!Ensembl
611128	19835	ENSG00000139915

Q7Z553

Protein name

MAM domain-containing glycosylphosphatidylinositol anchor protein 2 (MAM domain-containing protein 1)

Protein function

May be involved in cell-cell interactions.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13927	Ig_3	44 → 114		Domain
PF13927	Ig_3	134 → 219		Domain
PF13927	Ig_3	241 → 314		Domain
PF07679	I-set	341 → 435	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	441 → 518		Domain
PF00629	MAM	748 → 920	MAM domain, meprin/A5/mu	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in Leydig cells, syncytiotrophoblast, duodenal villi epithelial cells and neutrophils from kidney and cutaneous squamous cell carcinoma (at protein level). {ECO:0000269|PubMed:19997561}.

Sequence

MDLLYGLVWLLTVLLEGISGQGVYAPPTVRIVHSGLACNIEEERYSERVYTIREGETLEL
TCLVTGHPRPQIRWTKTAGSASDRFQDSSVFNETLRITNIQRHQGGRYYCKAENGLGSPA
IKSIRVDVYYLDDPVVTVHQSIGEAKEQFYYERTVFLRCVANSNPPVRYSWRRGQEVLLQ
GSDKGVEIYEPFFTQGETKILKLKNLRPQDYANYSCIASVRNVCNIPDKMVSFRLSNKTA
SPSIKLLVDDPIVVNPGEAITLVCVTTGGEPAPSLTWVRSFGTLPEKTVLNGGTLTIPAI
TSDDAGTYSCIANNNVGNPAKKSTNIIVRALKKGRFWITPDPYHKDDNIQIGREVKISCQ
VEAVPSEELTFSWFKNGRPLRSSERMVITQTDPDVSPGTTNLDIIDLKFTDFGTYTCVAS
LKGGGISDISIDVNISSSTVPPNLTVPQEKSPLVTREGDTIELQCQVTGKPKPIILWSRA
DKEVAMPDGSMQMESYDGTLRIVNVSREMSGMYRCQTSQYNGFNVKPREALVQLIVQYPP
AVEPAFLEIRQGQDRSVTMSCRVLRAYPIRVLTYEWRLGNKLLRTGQFDSQEYTEYAVKS
LSNENYGVYNCSIINEAGAGRCSFLVTGKAYAPEFYYDTYNPVWQNRHRVYSYSLQWTQM
NPDAVDRIVAYRLGIRQAGQQRWWEQEIKINGNIQKGELITYNLTELIKPEAYEVRLTPL
TKFGEGDSTIRVIKYSAPVNPHLREFHCGFEDGNICLFTQDDTDNFDWTKQSTATRNTKY
TPNTGPNADRSGSKEGFYMYIETSRPRLEGEKARLLSPVFSIAPKNPYGPTNTAYCFSFF
YHMYGQHIGVLNVYLRLKGQTTIENPLWSSSGNKGQRWNEAHVNIYPITSFQLIFEGIRG
PGIEGDIAIDDVSIAEGECAKQDLATKNSVDGAVGILVHIWLFPIIVLISILSPRR

Sequence length

956

Interactions

View interactions

	Reactome
			Post-translational modification: synthesis of GPI-anchored proteins

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
Intellectual disability	Likely pathogenic	rs2504344357	RCV002287842	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

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.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT RENAL PELVIS NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MDGA2-related intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYSTEM ATROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Apraxias	Apraxia	Pubtator	22738016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22738016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	30219690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	22738016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	BEFREE	22738016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19997561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	19997561, 21660437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26206665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26206665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26206665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurotic Disorders	Neurotic Disorders	GWASCAT_DG	18762592		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	GWASDB_DG	18762592		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	21399569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	26227905		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychosexual dysfunction	Psychosexual Dysfunction	GWASCAT_DG	22445761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	22491018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	22491018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sexual Dysfunction	Sexual Dysfunction	GWASCAT_DG	22445761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26206665		★★★★★ ★☆☆☆☆ Found in Text Mining only

MDGA2 (MAM domain containing glycosylphosphatidylinositol anchor 2)