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

Summary

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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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)

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

D10Bir17 (e-PCR), detects polymorphism
- UniSTS:141482

RH98724 (e-PCR)
- UniSTS:85988

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 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)

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. ...
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 ...
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. ...