RAB4B-EGLN2 RAB4B-EGLN2 readthrough (NMD candidate) [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB4B-EGLN2provided by HGNC
Official Full Name: RAB4B-EGLN2 readthrough (NMD candidate)provided by HGNC
Primary source: HGNC:HGNC:44465
See related: AllianceGenome:HGNC:44465
Gene type: ncRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EIT6; PHD1; EGLN2; EIT-6; HPH-1; HPH-3; HIF-PH1; RERT-lncRNA
Summary: This locus represents naturally occurring read-through transcription between the neighboring RAB4B (RAB4B, member RAS oncogene family) and EGLN2 (egl nine homolog 2) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]
Expression: Broad expression in testis (RPKM 52.7), spleen (RPKM 32.6) and 25 other tissues See more
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Genomic context

Location:: 19q13.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (40778219..40808441)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (43598898..43629120)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41284124..41314346)

Chromosome 19 - NC_000019.10 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
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?

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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 of COPD identifies a susceptibility locus on chromosome 19q13. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses identify multiple loci associated with smoking behavior. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-64133 (e-PCR)
- UniSTS:53779

MARC_3317-3318:991937016:1 (e-PCR)
- UniSTS:231011

RH93347 (e-PCR)
- UniSTS:84676

Other Names

Egl nine homolog 2
Estrogen-induced tag 6
HIF-prolyl hydroxylase 1
Hypoxia-inducible factor prolyl hydroxylase 1
Prolyl hydroxylase domain-containing protein 1
RAB4B-EGLN2 readthrough (non-protein coding)
RAB4B-EGLN2 readthrough long non-coding RNA

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.