Gene: RAB4B

Alternate names for this Gene: -

Gene Summary: RAB proteins, such as RAB4B, are members of the RAS superfamily of small GTPases that are involved in vesicular trafficking (He et al., 2002 [PubMed 12450215]).[supplied by OMIM, Aug 2009]. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.200270.1, SRR1660809.99136.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000357052.8/ ENSP00000349560.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: RAB4B, member RAS oncogene family

Type of Gene: protein-coding

Gene: MIA-RAB4B

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Gene: RAB4B-EGLN2

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rs7937 in RAB4B;MIA-RAB4B;RAB4B-EGLN2 gene and Chronic Obstructive Airway Disease PMID 22080838 2012 Genotyping this single nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P = 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV(1) (P = 0.08 and 0.04) and severe (GOLD 3&4) COPD (P = 0.09 and 0.017).

PMID 28166215 2017 Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.

rs7937 in RAB4B;MIA-RAB4B;RAB4B-EGLN2 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs7937 in RAB4B;MIA-RAB4B;RAB4B-EGLN2 gene and Smoking Behaviors PMID 20418888 2010 Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.