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

Gene ID: 79763, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 36.5), liver (RPKM 23.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19q13.42
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55452985..55461642, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58548867..58557801, complement)
105.20220307 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
  • 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 (38) 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 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_2023_10

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

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