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

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; AllianceGenome:HGNC:14860
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: mouse all
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Genomic context

Location:: 2q21.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (135741855..135785056)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (136182346..136225533)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (136499425..136542626)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of erasin, a platform for p97/VCP and ubiquilin binding, or knockdown of ubiquilin in human cells slowed degradation of two classical endoplasmic reticulum-associated protein degradation substrates.
Title: Ubiquilin and p97/VCP bind erasin, forming a complex involved in ERAD.
Erasin/UBXD2 may be involved in endoplasmic-reticulum-associated protein degradation and in Alzheimer's disease.
Title: Characterization of erasin (UBXD2): a new ER protein that promotes ER-associated protein degradation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI 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. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH67789 (e-PCR)
- UniSTS:38989

UBXD2_1405 (e-PCR)
- UniSTS:277854

UBXD2_v454 (e-PCR)
- UniSTS:277854

RH70068 (e-PCR)
- UniSTS:60771

BARC0057 (e-PCR)
- UniSTS:255335

SHGC-58383 (e-PCR)
- UniSTS:94321

SHGC-132989 (e-PCR)
- UniSTS:170966

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to unfolded protein	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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.

mRNA and Protein(s)

NM_014607.4 → NP_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

A8K9W4, Q4ZG56, Q8IYM5, Q92575

UniProtKB/TrEMBL

B4E240

Related

ENSP00000272638.9, ENST00000272638.14

Conserved Domains (2) summary

smart00166
Location:319 → 395

UBX; Domain present in ubiquitin-regulatory proteins

cl00388
Location:4 → 109

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold