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Aliases for PACS2 Gene

Aliases for PACS2 Gene

  • Phosphofurin Acidic Cluster Sorting Protein 2 2 3 5
  • PACS1-Like Protein 3 4
  • PACS1L 3 4
  • PACS-2 3 4
  • Phosphofurin Acidic Cluster Sorting Protein 1-Like 2
  • KIAA0602 4

External Ids for PACS2 Gene

Previous HGNC Symbols for PACS2 Gene

  • PACS1L

Previous GeneCards Identifiers for PACS2 Gene

  • GC14P104839
  • GC14P105767
  • GC14P085962

Summaries for PACS2 Gene

GeneCards Summary for PACS2 Gene

PACS2 (Phosphofurin Acidic Cluster Sorting Protein 2) is a Protein Coding gene. An important paralog of this gene is PACS1.

UniProtKB/Swiss-Prot for PACS2 Gene

  • Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication, including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptic inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death. May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinct subcellular compartments.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PACS2 Gene

Genomics for PACS2 Gene

Regulatory Elements for PACS2 Gene

Enhancers for PACS2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PACS2 on UCSC Golden Path with GeneCards custom track

Promoters for PACS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PACS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PACS2 Gene

Chromosome:
14
Start:
105,300,563 bp from pter
End:
105,398,147 bp from pter
Size:
97,585 bases
Orientation:
Plus strand

Genomic View for PACS2 Gene

Genes around PACS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PACS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PACS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PACS2 Gene

Proteins for PACS2 Gene

  • Protein details for PACS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VP3-PACS2_HUMAN
    Recommended name:
    Phosphofurin acidic cluster sorting protein 2
    Protein Accession:
    Q86VP3
    Secondary Accessions:
    • A2VDJ9
    • G8JLK3
    • O60342
    • Q6P191
    • Q96FL7

    Protein attributes for PACS2 Gene

    Size:
    889 amino acids
    Molecular mass:
    97702 Da
    Quaternary structure:
    • Interacts with BID and PKD2. Interacts with HIV-1 Nef.
    SequenceCaution:
    • Sequence=BAA25528.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PACS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PACS2 Gene

Proteomics data for PACS2 Gene at MOPED

Post-translational modifications for PACS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PACS2 Gene

Antibody Products

No data available for DME Specific Peptides for PACS2 Gene

Domains & Families for PACS2 Gene

Protein Domains for PACS2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PACS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86VP3

UniProtKB/Swiss-Prot:

PACS2_HUMAN :
  • Belongs to the PACS family.
Family:
  • Belongs to the PACS family.
genes like me logo Genes that share domains with PACS2: view

No data available for Gene Families for PACS2 Gene

Function for PACS2 Gene

Molecular function for PACS2 Gene

UniProtKB/Swiss-Prot Function:
Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication, including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptic inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death. May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinct subcellular compartments.
genes like me logo Genes that share phenotypes with PACS2: view

Animal Models for PACS2 Gene

MGI Knock Outs for PACS2:

Animal Model Products

miRNA for PACS2 Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PACS2 Gene

Localization for PACS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PACS2 Gene

Endoplasmic reticulum lumen. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PACS2 Gene COMPARTMENTS Subcellular localization image for PACS2 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 4
nucleus 3
cytosol 1
endosome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for PACS2 Gene

Pathways & Interactions for PACS2 Gene

SuperPathways for PACS2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PACS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034497 protein localization to pre-autophagosomal structure IDA 23455425
GO:0072661 protein targeting to plasma membrane IMP 15692563
genes like me logo Genes that share ontologies with PACS2: view

No data available for Pathways by source and SIGNOR curated interactions for PACS2 Gene

Drugs & Compounds for PACS2 Gene

No Compound Related Data Available

Transcripts for PACS2 Gene

Unigene Clusters for PACS2 Gene

Phosphofurin acidic cluster sorting protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PACS2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a ·
SP1: - - - -
SP2: - - - - - -
SP3:
SP4: -
SP5:
SP6: - -
SP7:
SP8:
SP9: -
SP10:

ExUns: 21b · 21c · 21d ^ 22 ^ 23a · 23b · 23c ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c · 27d
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4:
SP5:
SP6: -
SP7: -
SP8: -
SP9:
SP10:

Relevant External Links for PACS2 Gene

GeneLoc Exon Structure for
PACS2
ECgene alternative splicing isoforms for
PACS2

Expression for PACS2 Gene

mRNA expression in normal human tissues for PACS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PACS2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.9).

Protein differential expression in normal tissues from HIPED for PACS2 Gene

This gene is overexpressed in Spinal cord (14.6), Frontal cortex (9.9), Fetal Brain (8.8), and Brain (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PACS2 Gene



SOURCE GeneReport for Unigene cluster for PACS2 Gene Hs.525626

mRNA Expression by UniProt/SwissProt for PACS2 Gene

Q86VP3-PACS2_HUMAN
Tissue specificity: Broadly expressed, with greatest levels in skeletal muscle followed by heart, brain, pancreas and testis.
genes like me logo Genes that share expression patterns with PACS2: view

Protein tissue co-expression partners for PACS2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PACS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PACS2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PACS2 35
  • 89.28 (n)
  • 93.4 (a)
PACS2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PACS2 35
  • 90.38 (n)
  • 94.82 (a)
PACS2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pacs2 35
  • 88.08 (n)
  • 94.6 (a)
Pacs2 16
Pacs2 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PACS2 35
  • 99.44 (n)
  • 99.44 (a)
PACS2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pacs2 35
  • 88.19 (n)
  • 95.05 (a)
oppossum
(Monodelphis domestica)
Mammalia PACS2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PACS2 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PACS2 35
  • 78.85 (n)
  • 86.38 (a)
PACS2 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PACS2 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pacs2 35
  • 75.83 (n)
  • 83.69 (a)
zebrafish
(Danio rerio)
Actinopterygii pacs2 35
  • 69.8 (n)
  • 75.72 (a)
pacs2 36
  • 74 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003312 35
  • 49.62 (n)
  • 37.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta KrT95D 35
  • 49.74 (n)
  • 40.24 (a)
KrT95D 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-232 35
  • 41.64 (n)
  • 32.17 (a)
tag-232 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for PACS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PACS2 Gene

ENSEMBL:
Gene Tree for PACS2 (if available)
TreeFam:
Gene Tree for PACS2 (if available)

Paralogs for PACS2 Gene

Paralogs for PACS2 Gene

(1) SIMAP similar genes for PACS2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PACS2: view

Variants for PACS2 Gene

Sequence variations from dbSNP and Humsavar for PACS2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs8010888 - 105,367,342(+) ACAGC(A/G)CCATG reference, missense
rs4076933 - 105,382,554(+) ATCCT(C/T)GTCAA reference, synonymous-codon
rs7140525 -- 105,362,146(+) aggtg(C/T)ggtgg intron-variant
rs7401937 -- 105,383,640(+) TGTGG(C/T)GCGGT intron-variant
rs7492413 -- 105,353,939(+) gggtg(C/T)ggtgg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PACS2 Gene

Variant ID Type Subtype PubMed ID
dgv2020n71 CNV Loss 21882294
nsv902424 CNV Loss 21882294
dgv659e1 CNV Complex 17122850
nsv470679 CNV Loss 18288195
nsv902441 CNV Loss 21882294
dgv2024n71 CNV Loss 21882294
dgv2025n71 CNV Loss 21882294
nsv517055 CNV Gain+Loss 19592680
nsv902466 CNV Gain 21882294
esv29986 CNV Loss 17803354
dgv26n68 CNV Loss 17160897
nsv832889 CNV Loss 17160897
dgv2032n71 CNV Loss 21882294
dgv2033n71 CNV Loss 21882294
dgv2034n71 CNV Loss 21882294
nsv902473 CNV Loss 21882294
nsv832890 CNV Loss 17160897
esv2749292 CNV Deletion 23290073
esv24753 CNV Loss 19812545
nsv511535 CNV Gain 21212237
nsv827087 CNV Loss 20364138
esv1001547 CNV Insertion 20482838
nsv902477 CNV Loss 21882294
nsv902478 CNV Loss 21882294
nsv817647 CNV Gain 17921354
dgv2035n71 CNV Loss 21882294

Variation tolerance for PACS2 Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.62; 72.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PACS2 Gene

HapMap Linkage Disequilibrium report
PACS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PACS2 Gene

Disorders for PACS2 Gene

Relevant External Links for PACS2

Genetic Association Database (GAD)
PACS2
Human Genome Epidemiology (HuGE) Navigator
PACS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PACS2

No disorders were found for PACS2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PACS2 Gene

Publications for PACS2 Gene

  1. PACS-2 controls endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis. (PMID: 15692567) Simmen T. … Thomas G. (EMBO J. 2005) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Cellular inhibitor of apoptosis (cIAP)-mediated ubiquitination of phosphofurin acidic cluster sorting protein 2 (PACS-2) negatively regulates tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) cytotoxicity. (PMID: 24633224) Guicciardi M.E. … Gores G.J. (PLoS ONE 2014) 3
  5. Autophagosomes form at ER-mitochondria contact sites. (PMID: 23455425) Hamasaki M. … Yoshimori T. (Nature 2013) 3

Products for PACS2 Gene

Sources for PACS2 Gene

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