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UBXN4 UBX domain protein 4 [ Homo sapiens (human) ]

Gene ID: 23190, updated on 7-Dec-2018

Summary

Official Symbol
UBXN4provided by HGNC
Official Full Name
UBX domain protein 4provided by HGNC
Primary source
HGNC:HGNC:14860
See related
Ensembl:ENSG00000144224 MIM:611216
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UBXD2; UBXDC1; erasin
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]
Expression
Ubiquitous expression in thyroid (RPKM 49.4), gall bladder (RPKM 38.6) and 25 other tissues See more
Orthologs

Genomic context

See UBXN4 in Genome Data Viewer
Location:
2q21.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (135741619..135785063)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (136499189..136542633)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene R3H domain containing 1 Neighboring gene RNA, U6 small nuclear 512, pseudogene Neighboring gene microRNA 128-1 Neighboring gene uncharacterized LOC107985946 Neighboring gene uncharacterized LOC100507600 Neighboring gene lactase Neighboring gene minichromosome maintenance complex component 6

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23318, KIAA0242, KIAA2042

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
response to unfolded protein IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
UBX domain-containing protein 4
Names
UBX domain containing 2
UBX domain-containing 1
UBX domain-containing protein 2

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_014607.4NP_055422.1  UBX domain-containing protein 4

    See identical proteins and their annotated locations for NP_055422.1

    Status: VALIDATED

    Source sequence(s)
    AC011893
    Consensus CDS
    CCDS42761.1
    UniProtKB/Swiss-Prot
    Q92575
    Related
    ENSP00000272638.9, ENST00000272638.13
    Conserved Domains (2) summary
    smart00166
    Location:319395
    UBX; Domain present in ubiquitin-regulatory proteins
    cl00388
    Location:4109
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    135741619..135785063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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