MAGED2 (MAGE family member D2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10916
Gene name Gene Name - the full gene name approved by the HGNC.
MAGE family member D2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAGED2
Synonyms (NCBI Gene) Gene synonyms aliases
11B6, BARTS5, BCG-1, BCG1, HCA10, MAGE-D2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.21
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300470 16353 ENSG00000102316
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Platelet degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Bartter syndrome Bartter disease type 5 rs878854404, rs878854405, rs878854406, rs878854407, rs875989852 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Antenatal Bartter Syndrome antenatal Bartter syndrome N/A N/A GenCC
Neuroticism Neuroticism N/A N/A GWAS
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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