MAGEB6 MAGE family member B6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAGEB6provided by HGNC
Official Full Name: MAGE family member B6provided by HGNC
Primary source: HGNC:HGNC:23796
See related: Ensembl:ENSG00000176746 MIM:300467; AllianceGenome:HGNC:23796
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: CT3.4; MAGE-B6; MAGEB6A
Summary: This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is expressed in testis, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 2.3) See more
Orthologs: all
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Genomic context

Location:: Xp21.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (26192440..26195646)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (25779752..25782962)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (26210557..26213763)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Submit: New GeneRIF Correction

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

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

NoName (e-PCR)
- UniSTS:481336

NoName (e-PCR)
- UniSTS:482173

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 B6

Names: MAGE-B6 antigen; cancer/testis antigen 3.4; cancer/testis antigen family 3, member 4; melanoma antigen family B, 6; melanoma antigen family B6

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_013247.1 RefSeqGene

Range

5001..8207

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_173523.2 → NP_775794.2 melanoma-associated antigen B6

See identical proteins and their annotated locations for NP_775794.2

Status: REVIEWED

Source sequence(s)

AC005297

Consensus CDS

CCDS14217.1

UniProtKB/Swiss-Prot

Q6GS19, Q8N7X4, Q9H219

Related

ENSP00000368320.1, ENST00000379034.1

Conserved Domains (3) summary

pfam01454
Location:216 → 370

MAGE; MAGE family

pfam12440
Location:5 → 93

MAGE_N; Melanoma associated antigen family N terminal

cl00713
Location:83 → 181

Auto_anti-p27; Sjogren's syndrome/scleroderma autoantigen 1 (Autoantigen p27)