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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic	rs2504344357	RCV002287842

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs779032374	RCV004557792
MDGA2-related intellectual disability	Uncertain significance	rs187498428	RCV004799290

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Apraxias	Associate	22738016
Autistic Disorder	Associate	22738016
Depressive Disorder	Associate	30219690
Epilepsy Rolandic	Associate	22738016
Inflammation	Associate	19997561
Lupus Erythematosus Systemic	Associate	19997561

MDGA2 (MAM domain containing glycosylphosphatidylinositol anchor 2)