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    PACS2 phosphofurin acidic cluster sorting protein 2 [ Homo sapiens (human) ]

    Gene ID: 23241, updated on 27-Nov-2024

    Summary

    Official Symbol
    PACS2provided by HGNC
    Official Full Name
    phosphofurin acidic cluster sorting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:23794
    See related
    Ensembl:ENSG00000179364 MIM:610423; AllianceGenome:HGNC:23794
    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
    DEE66; EIEE66; PACS-2; PACS1L
    Summary
    Predicted to enable transmembrane transporter binding activity. Involved in endoplasmic reticulum calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and protein localization to plasma membrane. Acts upstream of or within protein localization to phagophore assembly site. Located in endoplasmic reticulum and mitochondrion. Implicated in developmental and epileptic encephalopathy 66. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 15.4), testis (RPKM 10.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PACS2 in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105300774..105398147)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99548161..99645650)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105767111..105864484)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6221 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105658307-105659088 Neighboring gene nudix hydrolase 14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105662217-105662998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105662999-105663780 Neighboring gene BRF1 general transcription factor IIIB subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105714496-105715286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6223 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105716078-105716867 Neighboring gene BTB domain containing 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105740537-105741440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105749364-105749905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105750449-105750989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105752260-105753158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9144 Neighboring gene uncharacterized LOC124903409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6225 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105778446-105778606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105781451-105782102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105789257-105789766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105794355-105794864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105798394-105799279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105803897-105804562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105804563-105805228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105808627-105809468 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105812556-105812745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105819060-105819589 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6230 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105837257-105837460 Neighboring gene ribosomal protein S20 pseudogene 33 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105856860-105857360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105857361-105857861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105864965-105865475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105865476-105865986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105877939-105878442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105878443-105878945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105884361-105885030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6237 Neighboring gene testis expressed 22 Neighboring gene MTA1 divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Amino-acid residues 102-116 in the FBR region of PACS-2 bind to HIV-1 Nef and alanine-scanning analysis reveals that amino acid N109 is required for the binding between PACS-2 and Nef PubMed
    nef HIV-1 Nef-mediated downregulation of MHC-I requires Nef motif EEEE(65)-dependent binding to the sorting protein PACS-2, which targets Nef to the paranuclear region and enables Nef PXXP(75) to bind and activate a trans-Golgi network localized Src kinase PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ25488, KIAA0602

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    phosphofurin acidic cluster sorting protein 2
    Names
    PACS1-like protein

    NCBI Reference Sequences (RefSeq)

    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)

    1. NM_001100913.3NP_001094383.2  phosphofurin acidic cluster sorting protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001094383.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB011174, AL928654, CA423467
      Consensus CDS
      CCDS45178.2
      UniProtKB/TrEMBL
      F8VW41
      Related
      ENSP00000393559.2, ENST00000447393.6
      Conserved Domains (1) summary
      pfam10254
      Location:477900
      Pacs-1; PACS-1 cytosolic sorting protein
    2. NM_001243127.3NP_001230056.1  phosphofurin acidic cluster sorting protein 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon, uses an alternate in-frame splice site in the central coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK098354, AL512355, BC065220, BC131591, CA423467, DA177001, DA408379, HY009105
      Consensus CDS
      CCDS58339.1
      UniProtKB/TrEMBL
      F8VW41
      Related
      ENSP00000393524.2, ENST00000430725.6
      Conserved Domains (1) summary
      pfam10254
      Location:398810
      Pacs-1; PACS-1 cytosolic sorting protein
    3. NM_015197.4NP_056012.2  phosphofurin acidic cluster sorting protein 2 isoform 2

      See identical proteins and their annotated locations for NP_056012.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AL512355, AL928654, BC065220, CA423467
      Consensus CDS
      CCDS32168.1
      UniProtKB/Swiss-Prot
      A2VDJ9, G8JLK3, O60342, Q6P191, Q86VP3, Q96FL7
      UniProtKB/TrEMBL
      F8VW41
      Related
      ENSP00000321834.8, ENST00000325438.12
      Conserved Domains (1) summary
      pfam10254
      Location:473885
      Pacs-1; PACS-1 cytosolic sorting protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      105300774..105398147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021112.3XP_016876601.1  phosphofurin acidic cluster sorting protein 2 isoform X12

      UniProtKB/TrEMBL
      F8VW41
    2. XM_017021111.3XP_016876600.1  phosphofurin acidic cluster sorting protein 2 isoform X13

      UniProtKB/TrEMBL
      F8VW41
    3. XM_006720090.3XP_006720153.1  phosphofurin acidic cluster sorting protein 2 isoform X1

      UniProtKB/TrEMBL
      F8VW41
      Conserved Domains (1) summary
      pfam10254
      Location:478901
      Pacs-1; PACS-1 cytosolic sorting protein
    4. XM_006720091.3XP_006720154.1  phosphofurin acidic cluster sorting protein 2 isoform X6

      UniProtKB/TrEMBL
      F8VW41
      Conserved Domains (1) summary
      pfam10254
      Location:478890
      Pacs-1; PACS-1 cytosolic sorting protein
    5. XM_017021105.3XP_016876594.1  phosphofurin acidic cluster sorting protein 2 isoform X2

      UniProtKB/TrEMBL
      F8VW41
    6. XM_017021110.3XP_016876599.1  phosphofurin acidic cluster sorting protein 2 isoform X9

      UniProtKB/TrEMBL
      F8VW41
    7. XM_017021109.3XP_016876598.1  phosphofurin acidic cluster sorting protein 2 isoform X7

      UniProtKB/TrEMBL
      F8VW41
    8. XM_017021106.3XP_016876595.1  phosphofurin acidic cluster sorting protein 2 isoform X3

      UniProtKB/TrEMBL
      F8VW41
    9. XM_017021107.3XP_016876596.1  phosphofurin acidic cluster sorting protein 2 isoform X4

      UniProtKB/TrEMBL
      F8VW41
    10. XM_047431164.1XP_047287120.1  phosphofurin acidic cluster sorting protein 2 isoform X10

    11. XM_017021108.3XP_016876597.1  phosphofurin acidic cluster sorting protein 2 isoform X5

      UniProtKB/TrEMBL
      F8VW41
    12. XM_047431163.1XP_047287119.1  phosphofurin acidic cluster sorting protein 2 isoform X8

    13. XM_006720092.4XP_006720155.1  phosphofurin acidic cluster sorting protein 2 isoform X11

      UniProtKB/TrEMBL
      F8VW41
      Conserved Domains (1) summary
      pfam10254
      Location:465877
      Pacs-1; PACS-1 cytosolic sorting protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      99548161..99645650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375707.1XP_054231682.1  phosphofurin acidic cluster sorting protein 2 isoform X12

    2. XM_054375708.1XP_054231683.1  phosphofurin acidic cluster sorting protein 2 isoform X13

    3. XM_054375696.1XP_054231671.1  phosphofurin acidic cluster sorting protein 2 isoform X1

    4. XM_054375701.1XP_054231676.1  phosphofurin acidic cluster sorting protein 2 isoform X6

    5. XM_054375697.1XP_054231672.1  phosphofurin acidic cluster sorting protein 2 isoform X2

    6. XM_054375704.1XP_054231679.1  phosphofurin acidic cluster sorting protein 2 isoform X9

    7. XM_054375702.1XP_054231677.1  phosphofurin acidic cluster sorting protein 2 isoform X7

    8. XM_054375698.1XP_054231673.1  phosphofurin acidic cluster sorting protein 2 isoform X3

    9. XM_054375699.1XP_054231674.1  phosphofurin acidic cluster sorting protein 2 isoform X4

    10. XM_054375705.1XP_054231680.1  phosphofurin acidic cluster sorting protein 2 isoform X10

    11. XM_054375700.1XP_054231675.1  phosphofurin acidic cluster sorting protein 2 isoform X5

    12. XM_054375703.1XP_054231678.1  phosphofurin acidic cluster sorting protein 2 isoform X8

    13. XM_054375706.1XP_054231681.1  phosphofurin acidic cluster sorting protein 2 isoform X11