MAGED2 MAGE family member D2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAGED2provided by HGNC
Official Full Name: MAGE family member D2provided by HGNC
Primary source: HGNC:HGNC:16353
See related: Ensembl:ENSG00000102316 MIM:300470; AllianceGenome:HGNC:16353
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 11B6; BCG1; BCG-1; HCA10; BARTS5; MAGE-D2
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 syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encoded by this gene is progressively recruited from the cytoplasm to the nucleoplasm during the interphase and after nucleolar stress and is thus thought to play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
Expression: Ubiquitous expression in ovary (RPKM 106.4), prostate (RPKM 98.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.21

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (54807745..54816015)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (54098628..54106898)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (54834178..54842448)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proteomic Analysis Revealed the Potential Role of MAGE-D2 in the Therapeutic Targeting of Triple-Negative Breast Cancer.
Title: Proteomic Analysis Revealed the Potential Role of MAGE-D2 in the Therapeutic Targeting of Triple-Negative Breast Cancer.
Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.
Title: Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.
MAGED2 Depletion Promotes Stress-Induced Autophagy by Impairing the cAMP/PKA Pathway.
Title: MAGED2 Depletion Promotes Stress-Induced Autophagy by Impairing the cAMP/PKA Pathway.
Reciprocal Regulation of MAGED2 and HIF-1alpha Augments Their Expression under Hypoxia: Role of cAMP and PKA Type II.
Title: Reciprocal Regulation of MAGED2 and HIF-1α Augments Their Expression under Hypoxia: Role of cAMP and PKA Type II.
MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
Title: MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
MAGED2 mutations explained 9% of cases of antenatal Bartter syndrome in a French cohort, and accounted for 38% of patients without other characterized mutations and for 44% of male probands of negative cases.
Title: Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.
MAGED2 loss of function is the cause of an X-linked transient form of antenatal Bartter's syndrome. Moreover, our findings showed that MAGE-D2 promotes the biogenesis of kidney membrane transporters.
Title: MAGED2: a novel form of antenatal Bartter's syndrome.
Increased expression of MAGE-D2 mRNA was associated with distant metastasis in Gastric Cancer.
Title: The Expression of Melanoma-Associated Antigen D2 Both in Surgically Resected and Serum Samples Serves as Clinically Relevant Biomarker of Gastric Cancer Progression.
MAGE-D2 is a dynamic protein whose shuttling properties could suggest a role in cell cycle regulation.
Title: Melanoma antigen-D2: A nucleolar protein undergoing delocalization during cell cycle and after cellular stress.
We found that MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome.
Title: Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bartter disease type 5 MedGen: C4310820 OMIM: 300971 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS7547 (e-PCR)
- UniSTS:153858

RH68550 (e-PCR)
- UniSTS:25355

RH64607 (e-PCR)
- UniSTS:87639

RH77912 (e-PCR)
- UniSTS:13976

DXS7159 (e-PCR)
- UniSTS:11240

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in female pregnancy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in renal sodium ion absorption	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: melanoma-associated antigen D2

Names: MAGE-D2 antigen; breast cancer-associated gene 1 protein; hepatocellular carcinoma-associated protein JCL-1; melanoma antigen family D, 2; melanoma antigen family D2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012844.1 RefSeqGene

Range

5008..13278

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014599.6 → NP_055414.2 melanoma-associated antigen D2

See identical proteins and their annotated locations for NP_055414.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 2. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

BC000304, BX647995, HY017171

Consensus CDS

CCDS14362.1

UniProtKB/Swiss-Prot

A6NMX0, O76058, Q5BJF3, Q8NAL6, Q9H218, Q9P0U9, Q9UM52, Q9UNF1

UniProtKB/TrEMBL

Q5H909

Related

ENSP00000364198.1, ENST00000375058.5

Conserved Domains (2) summary

pfam01454
Location:286 → 454

MAGE; MAGE family

cl26557
Location:11 → 161

RNase_E_G; Ribonuclease E/G family
NM_177433.3 → NP_803182.1 melanoma-associated antigen D2

See identical proteins and their annotated locations for NP_803182.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

BC000304, BX647995, DB467873

Consensus CDS

CCDS14362.1

UniProtKB/Swiss-Prot

A6NMX0, O76058, Q5BJF3, Q8NAL6, Q9H218, Q9P0U9, Q9UM52, Q9UNF1

UniProtKB/TrEMBL

Q5H909

Related

ENSP00000364209.1, ENST00000375068.6

Conserved Domains (2) summary

pfam01454
Location:286 → 454

MAGE; MAGE family

cl26557
Location:11 → 161

RNase_E_G; Ribonuclease E/G family
NM_201222.3 → NP_957516.1 melanoma-associated antigen D2

See identical proteins and their annotated locations for NP_957516.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 2. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

BC000304, BM043994, BX647995

Consensus CDS

CCDS14362.1

UniProtKB/Swiss-Prot

A6NMX0, O76058, Q5BJF3, Q8NAL6, Q9H218, Q9P0U9, Q9UM52, Q9UNF1

UniProtKB/TrEMBL

Q5H909

Related

ENSP00000379526.1, ENST00000396224.1

Conserved Domains (2) summary

pfam01454
Location:286 → 454

MAGE; MAGE family

cl26557
Location:11 → 161

RNase_E_G; Ribonuclease E/G family