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    ISOC2 isochorismatase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 79763, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ISOC2provided by HGNC
    Official Full Name
    isochorismatase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:26278
    See related
    Ensembl:ENSG00000063241 MIM:612928; AllianceGenome:HGNC:26278
    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
    Summary
    Involved in protein destabilization. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 36.5), liver (RPKM 23.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ISOC2 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55452985..55461642, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58548867..58557801, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55964352..55973009, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372462 Neighboring gene Sharpr-MPRA regulatory region 8373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55930479-55931048 Neighboring gene MPRA-validated peak3567 silencer Neighboring gene shisa family member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55953359-55953987 Neighboring gene Sharpr-MPRA regulatory region 4976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55974394-55975116 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55975839-55976561 Neighboring gene chromosome 19 open reading frame 85 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11037 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55988382-55988705 Neighboring gene Sharpr-MPRA regulatory region 3758 Neighboring gene zinc finger protein 628

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Closing the gaps on human chromosome 19 revealed genes with a high density of repetitive tandemly arrayed elements. Leem SH, et al. Genome Res, 2004 Feb. PMID 14718380, Free PMC Article
    2. Identification and characterization of a novel protein ISOC2 that interacts with p16INK4a. Huang X, et al. Biochem Biophys Res Commun, 2007 Sep 21. PMID 17658461
    3. HIV-1 Vpr modulates macrophage metabolic pathways: a SILAC-based quantitative analysis. Barrero CA, et al. PLoS One, 2013. PMID 23874603, Free PMC Article
    4. BAG5 Promotes Alpha-Synuclein Oligomer Formation and Functionally Interacts With the Autophagy Adaptor Protein p62. Friesen EL, et al. Front Cell Dev Biol, 2020. PMID 32850835, Free PMC Article
    5. Human Immunodeficiency Virus Type 1 Vpr Mediates Degradation of APC1, a Scaffolding Component of the Anaphase-Promoting Complex/Cyclosome. Barbosa JAF, et al. J Virol, 2021 Jul 12. PMID 34011540, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ISOC2 is a novel functional protein, which is able to bind and co-localize with a tumor suppressor gene p16(INK4a).
      Title: Identification and characterization of a novel protein ISOC2 that interacts with p16INK4a.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of isochorismatase domain containing 2 (ISOC2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ18582

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    isochorismatase domain-containing protein 2
    Names
    isochorismatase domain-containing protein 2, mitochondrial

    NCBI Reference Sequences (RefSeq)

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    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_001136201.2 → NP_001129673.1  isochorismatase domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001129673.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice site, compared to variant 2, that results in a shorter protein (isoform 1) compared to isoform 2.
      Source sequence(s)
      AC008735, AC135592, BC017344, BP226043
      Consensus CDS
      CCDS46195.1
      UniProtKB/Swiss-Prot
      Q6ZN91, Q96AB3, Q9H5G0
      UniProtKB/TrEMBL
      K7EKW4
      Related
      ENSP00000401726.1, ENST00000425675.7
      Conserved Domains (1) summary
      cd01012
      Location:17 → 170
      YcaC_related; YcaC related amidohydrolases; E.coli YcaC is an homooctameric hydrolase with unknown specificity. Despite its weak sequence similarity, it is structurally related to other amidohydrolases and shares conserved active site residues with them. ...

    2. NM_001136202.2 → NP_001129674.1  isochorismatase domain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001129674.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 2, that result in a shorter protein (isoform 3) compared to isoform 2.
      Source sequence(s)
      AK131324
      Consensus CDS
      CCDS46194.1
      UniProtKB/Swiss-Prot
      Q96AB3
      Related
      ENSP00000406364.1, ENST00000438389.6
      Conserved Domains (1) summary
      cl00220
      Location:17 → 100
      cysteine_hydrolases; Cysteine hydrolases; This family contains amidohydrolases, like CSHase (N-carbamoylsarcosine amidohydrolase), involved in creatine metabolism and nicotinamidase, converting nicotinamide to nicotinic acid and ammonia in the pyridine nucleotide cycle. It ...

    3. NM_024710.3 → NP_078986.1  isochorismatase domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_078986.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AC135592, AK027122
      Consensus CDS
      CCDS12925.1
      UniProtKB/TrEMBL
      K7EKW4
      Related
      ENSP00000085068.2, ENST00000085068.7
      Conserved Domains (1) summary
      cd01012
      Location:17 → 186
      YcaC_related; YcaC related amidohydrolases; E.coli YcaC is an homooctameric hydrolase with unknown specificity. Despite its weak sequence similarity, it is structurally related to other amidohydrolases and shares conserved active site residues with them. ...

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55452985..55461642 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439445.1 → XP_047295401.1  isochorismatase domain-containing protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58548867..58557801 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AB3.1 GenPept UniProtKB/Swiss-Prot:Q96AB3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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