MAGED4B MAGE family member D4B [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAGED4Bprovided by HGNC
Official Full Name: MAGE family member D4Bprovided by HGNC
Primary source: HGNC:HGNC:22880
See related: Ensembl:ENSG00000187243 MIM:300765; AllianceGenome:HGNC:22880
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
Summary: This gene is a member of the MAGED gene family. It is expressed only in brain and ovary, and some transcript variants of this gene are specifically expressed in glioma cells. This gene is clustered with other MAGED genes on chromosome Xp11. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
Annotation information: Note: There are two highly similar MAGED4 loci on the X chromosome. In June, 2007, the name of this locus was changed from MAGED4 to MAGED4B to conform to the annotation of the underlying clone. [20 Jun 2007]
Expression: Broad expression in brain (RPKM 32.3), endometrium (RPKM 13.7) and 14 other tissues See more
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Genomic context

Location:: Xp11.22

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (52061827..52069272, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (51333610..51341056, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (51804923..51812368, complement)

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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpression of MAGE-D4 may be a predictive marker of early recurrence and mortality in patients with hepatocellular carcinoma (HCC).
Title: Evaluation of MAGE-D4 expression in hepatocellular carcinoma in Japanese patients.
Our data suggest that MAGED4B over-expression is a driver in oral carcinogenesis
Title: Over-expression of MAGED4B increases cell migration and growth in oral squamous cell carcinoma and is associated with poor disease outcome.
MAGE-D4B was found to correlate with tumor progression and to be an independent prognostic marker for poor outcome in term of relapse-free and overall survival, with potential predictive relevance in relation to response to chemotherapy
Title: MAGE-D4B is a novel marker of poor prognosis and potential therapeutic target involved in breast cancer tumorigenesis.
MAGE-D4 plays some roles in tumor cells proliferation in NSCLC, but MAGE-D4 expression status did not provided a prognostic significance.
Title: Expression of MAGE-D4, a novel MAGE family antigen, is correlated with tumor-cell proliferation of non-small cell lung cancer.
The MAGE-E1 gene is composed of 13 exons, and three of these (exon 2, exon 3 and exon 12) are alternatively spliced in each variant (E1a-c). MAGE-E1 gene is located in Xp11 through the analysis of radiation hybrid panels.
Title: Structural characterization and chromosomal localization of the MAGE-E1 gene.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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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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 negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: melanoma-associated antigen D4

Names: MAGE-D4 antigen; MAGE-E1 antigen; melanoma antigen family D, 4B; melanoma antigen family D4B

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_029896.1 RefSeqGene

Range

5090..12446

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001242362.2 → NP_001229291.1 melanoma-associated antigen D4 isoform 3

See identical proteins and their annotated locations for NP_001229291.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains a slightly longer 5' UTR as a result of using an alternate acceptor splice site at the 2nd exon, and an additional in-frame coding exon compared to variant 1. This results in a longer isoform (3) containing an internal protein segment not found in isoform 1.

Source sequence(s)

AC239585, BC001207

Consensus CDS

CCDS56602.1

UniProtKB/Swiss-Prot

Q96JG8

Related

ENSP00000421861.1, ENST00000485287.5

Conserved Domains (2) summary

pfam01454
Location:420 → 603

MAGE; MAGE family

pfam11321
Location:250 → 304

DUF3123; Protein of unknown function (DUF3123)
NM_030801.5 → NP_110428.2 melanoma-associated antigen D4 isoform 1

See identical proteins and their annotated locations for NP_110428.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1. Variants 1 and 2 encode the same isoform.

Source sequence(s)

AB058762, BC001207

Consensus CDS

CCDS14338.1

UniProtKB/Swiss-Prot

A8K093, Q5HYN6, Q8WXW4, Q96JG8, Q9BQ84, Q9BVH1, Q9BYH3, Q9BYH4, Q9H217

Related

ENSP00000335385.5, ENST00000335504.10

Conserved Domains (2) summary

pfam01454
Location:420 → 587

MAGE; MAGE family

pfam11321
Location:250 → 304

DUF3123; Protein of unknown function (DUF3123)
NM_177535.3 → NP_803879.1 melanoma-associated antigen D4 isoform 1

See identical proteins and their annotated locations for NP_803879.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as MAGE-E1a) has a slightly shorter 5' UTR compared to variant 1, as a result of using an alternate acceptor splice site at the 2nd exon. Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AB040527, AC239585, BC001207

Consensus CDS

CCDS14338.1

UniProtKB/Swiss-Prot

A8K093, Q5HYN6, Q8WXW4, Q96JG8, Q9BQ84, Q9BVH1, Q9BYH3, Q9BYH4, Q9H217

Related

ENSP00000423848.1, ENST00000497164.5

Conserved Domains (2) summary

pfam01454
Location:420 → 587

MAGE; MAGE family

pfam11321
Location:250 → 304

DUF3123; Protein of unknown function (DUF3123)
NM_177537.3 → NP_803881.1 melanoma-associated antigen D4 isoform 2

See identical proteins and their annotated locations for NP_803881.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as MAGE-E1b) uses an alternate donor splice site at the penultimate exon compared to variant 1. This results in a frame-shift, early translation termination, and a shorter isoform (2) missing 2 aa from the C-terminus compared to isoform 1.

Source sequence(s)

AB040528, AC239585, BC001207

Consensus CDS

CCDS35281.1

UniProtKB/Swiss-Prot

Q96JG8

Related

ENSP00000353252.6, ENST00000360134.10

Conserved Domains (2) summary

pfam01454
Location:420 → 587

MAGE; MAGE family

pfam11321
Location:250 → 304

DUF3123; Protein of unknown function (DUF3123)