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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10916
Gene name	MAGE family member D2
Gene symbol	MAGED2
Synonyms (NCBI Gene)	11B6BARTS5BCG-1BCG1HCA10MAGE-D2
Chromosome	X
Chromosome location	Xp11.21
Summary	This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter`s

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs875989852	A>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs878854404	C>G	Pathogenic	Stop gained, coding sequence variant
rs878854405	A>G	Pathogenic	Splice acceptor variant
rs878854406	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167295	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017771	hsa-miR-335-5p	Microarray	18185580
MIRT037133	hsa-miR-877-3p	CLASH	23622248
MIRT2035526	hsa-miR-155	CLIP-seq
MIRT2035527	hsa-miR-2467-3p	CLIP-seq
MIRT2035528	hsa-miR-3678-3p	CLIP-seq
MIRT2035529	hsa-miR-505	CLIP-seq
MIRT2035530	hsa-miR-759	CLIP-seq
MIRT2266027	hsa-miR-3135	CLIP-seq
MIRT2266028	hsa-miR-3677-5p	CLIP-seq
MIRT2266029	hsa-miR-4464	CLIP-seq
MIRT2266030	hsa-miR-4748	CLIP-seq
MIRT2266031	hsa-miR-512-3p	CLIP-seq
MIRT2266032	hsa-miR-604	CLIP-seq
MIRT2266033	hsa-miR-647	CLIP-seq
MIRT2266034	hsa-miR-1185	CLIP-seq
MIRT2266035	hsa-miR-3605-5p	CLIP-seq
MIRT2266036	hsa-miR-3679-5p	CLIP-seq
MIRT2266037	hsa-miR-4303	CLIP-seq
MIRT2266038	hsa-miR-4649-3p	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0005515	Function	Protein binding	IPI	25852190, 27120771, 32707033
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0007565	Process	Female pregnancy	IMP	27120771
GO:0016020	Component	Membrane	HDA	19946888
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0070294	Process	Renal sodium ion absorption	IMP	27120771

MIM	HGNC	e!Ensembl
300470	16353	ENSG00000102316

Q9UNF1

Protein name

Melanoma-associated antigen D2 (11B6) (Breast cancer-associated gene 1 protein) (BCG-1) (Hepatocellular carcinoma-associated protein JCL-1) (MAGE-D2 antigen)

Protein function

Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01454	MAGE	286 → 454	MAGE family	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. In the developing and adult kidney, expressed in the thick ascending limb of the loop of Henle and the distal convoluted tubules outside the loop. {ECO:0000269|PubMed:11856887, ECO:0000269|PubMed:27120771}.

Sequence

MSDTSESGAGLTRFQAEASEKDSSSMMQTLLTVTQNVEVPETPKASKALEVSEDVKVSKA
SGVSKATEVSKTPEAREAPATQASSTTQLTDTQVLAAENKSLAADTKKQNADPQAVTMPA
TETKKVSHVADTKVNTKAQETEAAPSQAPADEPEPESAAAQSQENQDTRPKVKAKKARKV
KHLDGEEDGSSDQSQASGTTGGRRVSKALMASMARRASRGPIAFWARRASRTRLAAWARR
ALLSLRSPKARRGKARRRAAKLQSSQEPEAPPPRDVALLQGRANDLVKYLLAKDQTKIPI
KRSDMLKDIIKEYTDVYPEIIERAGYSLEKVFGIQLKEIDKNDHLYILLSTLEPTDAGIL
GTTKDSPKLGLLMVLLSIIFMNGNRSSEAVIWEVLRKLGLRPGIHHSLFGDVKKLITDEF
VKQKYLDYARVPNSNPPEYEFFWGLRSYYETSKMKVLKFACKVQKKDPKEWAAQYREAME
ADLKAAAEAAAEAKARAEIRARMGIGLGSENAAGPCNWDEADIGPWAKARIQAGAEAKAK
AQESGSASTGASTSTNNSASASASTSGGFSAGASLTATLTFGLFAGLGGAGASTSGSSGA
CGFSYK

Sequence length

606

Interactions

View interactions

	Reactome
			Platelet degranulation

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bartter disease type 5	Likely pathogenic; Pathogenic	rs2519310187, rs878854404, rs878854405, rs878854406, rs878854407, rs875989852, rs1432384861, rs2519308659	RCV002471619 RCV000211517 RCV000211544 RCV000211479 RCV000211522 RCV000211438 RCV003320417 RCV003484236

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Likely benign; Benign	rs183444582, rs41309825, rs150551550	RCV005917826 RCV005919172 RCV005907632
Lung cancer	Likely benign	rs41309825	RCV005919175
MAGED2-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs11555927, rs779453522, rs2519305610, rs775770634, rs12014977, rs111542041, rs751416614	RCV003975988 RCV003928913 RCV003402219 RCV003964056 RCV003926165 RCV003928442 RCV003913058
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs183444582, rs41309825, rs150551550	RCV005917827 RCV005919174 RCV005907634
Sarcoma	Likely benign; Benign	rs41309825, rs150551550	RCV005919173 RCV005907633
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs758463316	RCV005927277
Uterine carcinosarcoma	Benign	rs150551550	RCV005907635
Uterine corpus endometrial carcinoma	Benign	rs150551550	RCV005907636

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoid tumor	Stimulate	16794389
Bartter Syndrome	Associate	27120771, 27633862, 29146702, 34895150, 36010623, 36359819, 37686237, 38238844
Bartter syndrome antenatal type 1	Associate	36359819
Carcinoma Hepatocellular	Associate	32941982
Glycogen Storage Disease Type IV	Stimulate	16502410
Glycosuria Renal	Associate	36010623
Hypoxia	Associate	36010623, 36359819, 37686237
Hypoxia Brain	Associate	36010623, 37686237
Ichthyosis prematurity syndrome	Associate	27120771
Lymphoma Large B Cell Diffuse	Associate	33752626
Melanoma	Associate	19383316, 25724522
Neoplasm Metastasis	Associate	19197975
Neoplasm Metastasis	Stimulate	38128647
Neoplasms	Associate	16502410, 17912449
Neuroendocrine Tumors	Associate	16794389, 19197975
Peritonitis	Stimulate	29733517
Polyhydramnios	Associate	27120771, 27633862, 29146702, 36010623, 38238844
Sarcoma	Stimulate	34307667
Stomach Neoplasms	Associate	29733517
Taste Disorders	Associate	36010623
Triple Negative Breast Neoplasms	Stimulate	38128647

MAGED2 (MAGE family member D2)