HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: HLA-DPB2provided by HGNC
Official Full Name: major histocompatibility complex, class II, DP beta 2 (pseudogene)provided by HGNC
Primary source: HGNC:HGNC:4941
See related: Ensembl:ENSG00000224557 AllianceGenome:HGNC:4941
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: DP2B; DPB2; DPbeta2; HLA-DP2B
Expression: Biased expression in lymph node (RPKM 1.2), spleen (RPKM 1.0) and 10 other tissues See more
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Genomic context

Location:: 6p21.32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (33112516..33129113)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (32933867..32950465)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (33080293..33096890)

Chromosome 6 - NC_000006.12 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 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?

Genome-wide association study in Korean subjects indicate that the region of HLA-DPB1 and DPB2 contains the loci most susceptible to systemic sclerosis in a Korean population.
Title: HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans.
Observational study of gene-disease association. (HuGE Navigator)
Title: Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies susceptibility loci for IgA nephropathy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of susceptibility loci for cervical cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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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.