PSMG2 proteasome assembly chaperone 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSMG2provided by HGNC
Official Full Name: proteasome assembly chaperone 2provided by HGNC
Primary source: HGNC:HGNC:24929
See related: Ensembl:ENSG00000128789 MIM:609702; AllianceGenome:HGNC:24929
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: PAC2; HCCA3; CLAST3; MDS003; PRAAS4; HsT1707; TNFSF5IP1
Summary: Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly. Located in nucleus. Part of chaperone complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 46.4), bone marrow (RPKM 28.3) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 18p11.21

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (12658738..12725740)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (12821722..12888739)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (12658737..12725739)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus.
two chaperones, designated proteasome assembling chaperone-1 (PAC1) and PAC2, form a heterodimer and are involved in the maturation of mammalian 20S proteasomes
Title: A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes.
A novel full-length cDNA was cloned and differentiated, which was highly expressed in liver cancer tissues. (HCCA3)
Title: Expression of liver cancer associated gene HCCA3.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Proteasome-associated autoinflammatory syndrome 4 MedGen: C5543053 OMIM: 619183 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Homology

Homologs of the PSMG2 gene: The PSMG2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 465 organisms have orthologs with human gene PSMG2

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular adaptor activity	IGI Inferred from Genetic Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chaperone-mediated protein complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in chaperone-mediated protein complex assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mitotic spindle assembly checkpoint signaling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in proteasome assembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
part_of chaperone complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: proteasome assembly chaperone 2

Names: CD40 ligand-activated specific transcript 3; HDCMC29P; HSPC260; PAC-2; hepatocellular carcinoma susceptibility protein; hepatocellular carcinoma-susceptibility protein 3; likely ortholog of mouse CD40 ligand-activated specific transcript 3 (Clast3); proteasome (prosome, macropain) assembly chaperone 2; proteasome assembling chaperone 2; tumor necrosis factor superfamily member 5-induced protein 1; x 003 protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_020232.5 → NP_064617.2 proteasome assembly chaperone 2 isoform 1

See identical proteins and their annotated locations for NP_064617.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK057005, BC013356, BF668035

Consensus CDS

CCDS11862.1

UniProtKB/Swiss-Prot

Q969U7, V9GYH7

Related

ENSP00000325919.6, ENST00000317615.11

Conserved Domains (1) summary

pfam09754
Location:17 → 123

PAC2; PAC2 family
NM_147163.2 → NP_671692.1 proteasome assembly chaperone 2 isoform 2

See identical proteins and their annotated locations for NP_671692.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AF068295, AK057005, AP005482, BC013356

Consensus CDS

CCDS67440.1

UniProtKB/Swiss-Prot

Q969U7

UniProtKB/TrEMBL

Q9P1R6

Related

ENSP00000476763.1, ENST00000585331.6

Conserved Domains (1) summary

pfam09754
Location:2 → 95

PAC2; PAC2 family