U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

BAGE2 BAGE family member 2 (pseudogene) [ Homo sapiens (human) ]

Gene ID: 85319, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
BAGE2provided by HGNC
Official Full Name
BAGE family member 2 (pseudogene)provided by HGNC
Primary source
HGNC:HGNC:15723
See related
MIM:617776; AllianceGenome:HGNC:15723
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CT2.2
Summary
Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 3.0), thyroid (RPKM 0.8) and 20 other tissues See more
Orthologs
all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
21p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (10413497..10518274)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (10608496..10714080, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (10994183..11098960, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11164508-11164790 Neighboring gene eukaryotic translation initiation factor 3 subunit F pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11149351-11149545 Neighboring gene Sharpr-MPRA regulatory region 1951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:11143879-11144379 Neighboring gene vomeronasal 1 receptor 7 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11110990-11111153 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11095452-11095553 Neighboring gene Sharpr-MPRA regulatory region 1956 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:11058865-11059648 Neighboring gene NANOG hESC enhancer GRCh37_chr21:11040874-11041867 Neighboring gene NANOG hESC enhancer GRCh37_chr21:11038995-11039496 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11010869-11011015 Neighboring gene transmembrane phosphatase with tensin homology Neighboring gene uncharacterized LOC124905063 Neighboring gene CYCS pseudogene 41

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Mapping of the juxtacentromeric heterochromatin-euchromatin frontier of human chromosome 21. Grunau C, et al. Genome Res, 2006 Oct. PMID 16963709, Free PMC Article
  2. Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome. Shaw SW, et al. J Hum Genet, 2008. PMID 18074101
  3. Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms. Brun ME, et al. Gene, 2003 Jul 17. PMID 12909339
  4. BAGE genes generated by juxtacentromeric reshuffling in the Hominidae lineage are under selective pressure. Ruault M, et al. Genomics, 2003 Apr. PMID 12676563
  5. New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 have a cancer/testis expression profile. Ruault M, et al. Eur J Hum Genet, 2002 Dec. PMID 12461691

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Gene dosage change of BAGE2 is associated with Robertsonian Down syndrome
    Title: Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Potential readthrough

Included gene: TPTE

Homology

Other Names

  • B melanoma antigen family member 2
  • BAGE family member 2
  • cancer/testis antigen 2.2
  • cancer/testis antigen family 2, member 2
  • histone-lysine N-methyltransferase 2C

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

RNA

  1. NR_169269.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AF254983

  2. NR_169270.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AF254983

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    10413497..10518274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    10608496..10714080 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_182482.2: Suppressed sequence

    Description
    NM_182482.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous