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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 , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G104665 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -634.1 -634053 2.9 HDGF YBX1 DMAP1 ZBTB7B ZNF302 ZNF207 FOS SP5 ZHX2 ZNF662 ENSG00000257270 XRCC3 TMEM121 RPS20P33 ENSG00000269940 PACS2 LINC00638 ENSG00000256050 INF2 TMEM179
GH14G105192 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -104.2 -104178 7.2 PKNOX1 ATF1 SIN3A ZNF2 ZBTB7B GLIS2 GATA2 ZNF207 FOS ZNF263 BTBD6 TMEM121 PACS2 NUDT14 IGHA2 CRIP2 JAG2 PIR42636
GH14G105351 1.4 Ensembl ENCODE dbSUPER 12.1 +51.9 51868 1.1 ELF3 HDGF ATF1 ARID4B RAD21 RFX5 GLIS2 ZNF143 RELB IKZF2 BRF1 PACS2 MTA1 ENSG00000279495
GH14G105119 0.8 ENCODE 21.1 -181.4 -181445 0.2 CTCF HDGF ESRRA NFIB ZNF473 SALL2 YBX1 RAD21 GATA3 CTBP1 PACS2 TMEM121 AHNAK2 BRF1 ENSG00000258154 MIR6765
GH14G104391 1.4 FANTOM5 Ensembl ENCODE 10.4 -907.5 -907525 3.5 KLF1 SUZ12 SALL2 YBX1 PLRG1 BCL11B ZBTB7B CTBP1 ZFHX2 ZNF366 XRCC3 ZFYVE21 TRMT61A PACS2 LINC00638 CKB RNU6-684P GC14M104401 ENSG00000258598
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000073795 337 2201 HDGF PKNOX1 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

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

Post-translational modifications for PACS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PACS2

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.

Gene Ontology (GO) - Molecular Function for PACS2 Gene

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

Animal Models for PACS2 Gene

MGI Knock Outs for PACS2:

Animal Model Products

CRISPR Products

miRNA for PACS2 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
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 5
endoplasmic reticulum 5
nucleus 3
plasma membrane 1
cytosol 1
endosome 1

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
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with PACS2: view

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:0000045 autophagosome assembly IDA 23455425
GO:0006915 apoptotic process IEA --
GO:0016032 viral process IEA --
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

Transcripts for PACS2 Gene

Unigene Clusters for PACS2 Gene

Phosphofurin acidic cluster sorting protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PACS2 Gene



Protein tissue co-expression partners for PACS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PACS2 Gene:

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)
  • Eye(4.2)
  • Liver(4.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with PACS2: view

Primer Products

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 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia PACS2 34 35
  • 90.38 (n)
cow
(Bos Taurus)
Mammalia PACS2 34 35
  • 89.28 (n)
rat
(Rattus norvegicus)
Mammalia Pacs2 34
  • 88.19 (n)
mouse
(Mus musculus)
Mammalia Pacs2 34 16 35
  • 88.08 (n)
oppossum
(Monodelphis domestica)
Mammalia PACS2 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PACS2 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PACS2 34 35
  • 78.85 (n)
lizard
(Anolis carolinensis)
Reptilia PACS2 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pacs2 34
  • 75.83 (n)
zebrafish
(Danio rerio)
Actinopterygii pacs2 34 35
  • 69.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta KrT95D 34 35
  • 49.74 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003312 34
  • 49.62 (n)
worm
(Caenorhabditis elegans)
Secernentea tag-232 34 35
  • 41.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToMany
Species where no ortholog for PACS2 was found in the sources mined by GeneCards:
  • 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
rs1000019252 -- 105,342,062(+) GAAAC(A/G)AGCGT intron-variant
rs1000029395 -- 105,312,315(+) GAACC(C/T)TGAAG intron-variant
rs1000044446 -- 105,351,013(+) CCGCC(C/T)GCACC intron-variant
rs1000064351 -- 105,345,729(+) ATTTG(A/T)GAAGG intron-variant
rs1000070576 -- 105,318,450(+) AATTT(-/TTTTG)TTTTG intron-variant

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)

Relevant External Links for PACS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 64
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2010) 3 46 64
  4. 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 K.M. … Thomas G. (J. Biol. Chem. 2008) 3 4 64
  5. Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation. (PMID: 15692563) Koettgen M. … Walz G. (EMBO J. 2005) 3 4 64

Products for PACS2 Gene

Sources for PACS2 Gene

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