Aliases for PACS2 Gene

Aliases for PACS2 Gene

  • Phosphofurin Acidic Cluster Sorting Protein 2 2 3 4 5
  • PACS1-Like Protein 3 4
  • KIAA0602 2 4
  • PACS-2 3 4
  • PACS1L 3 4
  • Phosphofurin Acidic Cluster Sorting Protein 1-Like 2
  • EIEE66 3
  • PACS2 5

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. Diseases associated with PACS2 include Epileptic Encephalopathy, Early Infantile, 66 and Alacrima, Achalasia, And Mental Retardation Syndrome. An important paralog of this gene is PACS1.

UniProtKB/Swiss-Prot Summary 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 apoptotic 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.

Additional gene information for PACS2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PACS2 Gene

Genomics for PACS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PACS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PACS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PACS2

Top Transcription factor binding sites by QIAGEN in the PACS2 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • p53

Genomic Locations for PACS2 Gene

Genomic Locations for PACS2 Gene
chr14:105,300,563-105,398,147
(GRCh38/hg38)
Size:
97,585 bases
Orientation:
Plus strand
chr14:105,766,900-105,864,484
(GRCh37/hg19)
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 (PubMed:15692567, PubMed:15692563). Interacts with SIRT1 (PubMed:29656858). Interacts with HDAC1 (PubMed:29656858). Interacts with TRPV1 (PubMed:29656858).
    • (Microbial infection) Interacts with HIV-1 Nef.
    SequenceCaution:
    • Sequence=BAA25528.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: Incomplete sequence.

    Alternative splice isoforms for PACS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PACS2 Gene

Post-translational modifications for PACS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PACS2 Gene

Domains & Families for PACS2 Gene

Gene Families for PACS2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for PACS2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PACS2 Gene

GenScript: Design optimal peptide antigens:
  • PACS1-like protein (PACS2_HUMAN)

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

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 apoptotic 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.

Phenotypes From GWAS Catalog for PACS2 Gene

Gene Ontology (GO) - Molecular Function for PACS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 29656858
GO:0044325 ion channel binding IBA 21873635
genes like me logo Genes that share ontologies with PACS2: view
genes like me logo Genes that share phenotypes with PACS2: view

Human Phenotype Ontology for PACS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PACS2 Gene

MGI Knock Outs for PACS2:
  • Pacs2 Pacs2<tm1a(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for PACS2 Gene

miRTarBase miRNAs that target PACS2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PACS2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PACS2 Gene

Localization for PACS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PACS2 Gene

Endoplasmic reticulum. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PACS2 gene
Compartment Confidence
mitochondrion 4
endoplasmic reticulum 4
nucleus 3
plasma membrane 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PACS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005783 endoplasmic reticulum IDA 15692563
genes like me logo Genes that share ontologies with PACS2: view

Pathways & Interactions for PACS2 Gene

PathCards logo

SuperPathways for PACS2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PACS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IDA 23455425
GO:0006915 apoptotic process IEA --
GO:0016032 viral process IEA --
GO:0032469 endoplasmic reticulum calcium ion homeostasis IMP 15692567
GO:0034497 protein localization to phagophore assembly site IDA 23455425
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

mRNA/cDNA for PACS2 Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PACS2

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

Expression for PACS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PACS2 Gene



Protein tissue co-expression partners for PACS2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PACS2

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.

Evidence on tissue expression from TISSUES for PACS2 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Eye(4.3)
  • Muscle(3)
  • Skin(2.3)
  • Blood(2.3)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with PACS2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PACS2 Gene

Orthologs for PACS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PACS2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PACS2 30 31
  • 99.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PACS2 30 31
  • 90.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PACS2 30 31
  • 89.28 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pacs2 30
  • 88.19 (n)
Mouse
(Mus musculus)
Mammalia Pacs2 30 17 31
  • 88.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PACS2 31
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PACS2 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PACS2 30 31
  • 78.85 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PACS2 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pacs2 30
  • 75.83 (n)
Zebrafish
(Danio rerio)
Actinopterygii pacs2 30 31
  • 69.8 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta KrT95D 30 31
  • 49.74 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003312 30
  • 49.62 (n)
Worm
(Caenorhabditis elegans)
Secernentea tag-232 30 31
  • 41.64 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for PACS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PACS2: view image

Paralogs for PACS2 Gene

Paralogs for PACS2 Gene

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

  • PACS2_HUMAN
  • E9PB38_HUMAN
  • F8VW41_HUMAN
  • F8VX22_HUMAN
  • F8W0B1_HUMAN
  • F8W0V0_HUMAN
genes like me logo Genes that share paralogs with PACS2: view

Variants for PACS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PACS2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
710046 Benign: not provided 105,376,863(+) C/T SYNONYMOUS_VARIANT
735378 Benign: not provided 105,382,467(+) G/A INTRON_VARIANT
768683 Benign: not provided 105,367,278(+) C/T SYNONYMOUS_VARIANT
783699 Benign: not provided 105,355,120(+) G/A SYNONYMOUS_VARIANT
799877 Likely Benign: not provided 105,379,838(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PACS2 Gene

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

Variant ID Type Subtype PubMed ID
dgv26n68 CNV loss 17160897
dgv3983n54 CNV loss 21841781
dgv3984n54 CNV gain 21841781
dgv3985n54 CNV gain+loss 21841781
dgv3986n54 CNV loss 21841781
esv1001547 CNV insertion 20482838
esv24753 CNV loss 19812545
esv2749292 CNV deletion 23290073
esv2760014 CNV loss 17122850
esv29986 CNV loss 17803354
esv3635641 CNV gain 21293372
esv3635643 CNV gain 21293372
nsv1054190 CNV gain 25217958
nsv1054574 CNV loss 25217958
nsv1070670 CNV deletion 25765185
nsv1076793 CNV insertion 25765185
nsv1112657 CNV deletion 24896259
nsv1113679 CNV deletion 24896259
nsv1144716 CNV deletion 24896259
nsv1160204 CNV duplication 26073780
nsv470679 CNV loss 18288195
nsv511535 CNV gain 21212237
nsv517055 CNV gain+loss 19592680
nsv566186 CNV loss 21841781
nsv566187 CNV gain 21841781
nsv566188 CNV loss 21841781
nsv566189 CNV gain 21841781
nsv566190 CNV gain 21841781
nsv566195 CNV loss 21841781
nsv566198 CNV gain 21841781
nsv566202 CNV loss 21841781
nsv566204 CNV gain 21841781
nsv566205 CNV loss 21841781
nsv817647 CNV gain 17921354
nsv827087 CNV loss 20364138
nsv832889 CNV loss 17160897
nsv832890 CNV loss 17160897
nsv952280 CNV deletion 24416366
nsv952281 CNV deletion 24416366
nsv952282 CNV deletion 24416366

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)

Additional Variant Information for PACS2 Gene

Human Gene Mutation Database (HGMD)
PACS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PACS2

SNP Genotyping and Copy Number Assay Products

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

Disorders for PACS2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PACS2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PACS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PACS2_HUMAN
  • Epileptic encephalopathy, early infantile, 66 (EIEE66) [MIM:618067]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE66 is an autosomal dominant form characterized by onset of seizures in first days or weeks of life. {ECO:0000269 PubMed:29656858}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PACS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PACS2: view

No data available for 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 (The EMBO journal 2005) 2 3 4
  2. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. (PMID: 29656858) Olson HE … Thauvin-Robinet C (American journal of human genetics 2018) 3 4
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41
  4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41
  5. HIV-1 Nef binds PACS-2 to assemble a multikinase cascade that triggers major histocompatibility complex class I (MHC-I) down-regulation: analysis using short interfering RNA and knock-out mice. (PMID: 18296443) Atkins KM … Thomas G (The Journal of biological chemistry 2008) 3 4

Products for PACS2 Gene

Sources for PACS2 Gene