NIT2 nitrilase family member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NIT2provided by HGNC
Official Full Name: nitrilase family member 2provided by HGNC
Primary source: HGNC:HGNC:29878
See related: Ensembl:ENSG00000114021 MIM:616769; AllianceGenome:HGNC:29878
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: HEL-S-8a
Summary: Enables omega-amidase activity. Involved in asparagine metabolic process; glutamine metabolic process; and oxaloacetate metabolic process. Located in centrosome and cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney (RPKM 49.7), liver (RPKM 37.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q12.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (100334757..100361635)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (103040105..103066978)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (100053601..100080479)

Chromosome 3 - NC_000003.12 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?

A novel efficient producer of human omega-amidase (Nit2) in Escherichia coli.
Title: A novel efficient producer of human ω-amidase (Nit2) in Escherichia coli.
NIT2 overexpression predicts poor prognosis in tongue squamous cell carcinoma patients.
Title: NIT2 overexpression predicts poor prognosis in tongue squamous cell carcinoma patients.
Downregulation of NIT2 inhibits colon cancer cell proliferation and induces cell cycle arrest through the caspase-3 and PARP pathways
Title: Downregulation of NIT2 inhibits colon cancer cell proliferation and induces cell cycle arrest through the caspase-3 and PARP pathways.
Human NIT1/2 are not involved in the metabolism of vildagliptin.
Title: Human nitrilase-like protein does not catalyze the hydrolysis of vildagliptin.
The activity and substrate specificity of human Nit2 was determined with alpha-ketoglutaramate and succinamate as substrates.
Title: Structural insights into the catalytic active site and activity of human Nit2/ω-amidase: kinetic assay and molecular dynamics simulation.
Genotype analysis in 4 types of tumor tissue showed allelic imbalance surrounding NIT2 locus; results show that NIT2 plays an important role in cell growth inhibition & links to malignancies, suggesting Nit2 may be a potential tumor suppressor candidate
Title: Growth inhibitory effect of the human NIT2 gene and its allelic imbalance in cancers.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-77154 (e-PCR)
- UniSTS:53875

SHGC-77149 (e-PCR)
- UniSTS:12202

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2-oxoglutaramate amidase activity	IEA Inferred from Electronic Annotation more info
enables omega-amidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables omega-amidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in asparagine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in asparagine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glutamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glutamine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in oxaloacetate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in oxaloacetate metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in specific granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: omega-amidase NIT2

Names: Nit protein 2; epididymis secretory sperm binding protein Li 8a; nitrilase homolog 2

NP_064587.1

EC 3.5.1.3

XP_054203250.1

EC 3.5.1.3

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.