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

Gene ID: 81557, updated on 22-Jun-2021

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
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

See MAGED4B in Genome Data Viewer
Location:
Xp11.22
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (52061827..52069272, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (51804923..51812368, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene thiopurine S-methyltransferase pseudogene 3 Neighboring gene uncharacterized LOC105377208 Neighboring gene uncharacterized LOC401589 Neighboring gene small nucleolar RNA, H/ACA box 11E Neighboring gene uncharacterized LOC105377209 Neighboring gene small nucleolar RNA, H/ACA box 11D Neighboring gene MAGE family member D4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3210, KIAA1859, MGC88639

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 biological_process ND
No biological Data available
more info
 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

  1. NG_029896.1 RefSeqGene

    Range
    5001..12446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242362.2NP_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:420603
    MAGE; MAGE family
    pfam11321
    Location:250304
    DUF3123; Protein of unknown function (DUF3123)
  2. NM_030801.5NP_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
    Q96JG8
    UniProtKB/TrEMBL
    A0A024R2A8
    Related
    ENSP00000335385.5, ENST00000335504.9
    Conserved Domains (2) summary
    pfam01454
    Location:420587
    MAGE; MAGE family
    pfam11321
    Location:250304
    DUF3123; Protein of unknown function (DUF3123)
  3. NM_177535.3NP_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
    Q96JG8
    UniProtKB/TrEMBL
    A0A024R2A8
    Related
    ENSP00000423848.1, ENST00000497164.5
    Conserved Domains (2) summary
    pfam01454
    Location:420587
    MAGE; MAGE family
    pfam11321
    Location:250304
    DUF3123; Protein of unknown function (DUF3123)
  4. NM_177537.3NP_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:420587
    MAGE; MAGE family
    pfam11321
    Location:250304
    DUF3123; Protein of unknown function (DUF3123)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    52061827..52069272 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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