Gene: UBXN4

Alternate names for this Gene: UBXD2|UBXDC1|erasin

Gene Summary: UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## Transcript exon combination :: BC035594.2, SRR1660805.200758.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2154361 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000272638.14/ ENSP00000272638.9 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 2

Location in Chromosome : 2q21.3

Description of this Gene: UBX domain protein 4

Type of Gene: protein-coding

rs6430585 in UBXN4 gene and Corneal Topography PMID 21979947 2012 A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.

rs6430585 in UBXN4 gene and Keratoconus PMID 21979947 2012 A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.

rs28453840 in UBXN4 gene and Serum total cholesterol measurement PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.