NIT2 (nitrilase family member 2)

Gene

• Entrez ID: 56954
• Gene name: Nitrilase family member 2
• Gene symbol: NIT2
• Synonyms (NCBI Gene): HEL-S-8a
• Chromosome: 3
• Chromosome location: 3q12.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044603	hsa-miR-320a	CLASH	23622248
MIRT1185945	hsa-miR-3613-5p	CLIP-seq
MIRT1185946	hsa-miR-3674	CLIP-seq
MIRT1185947	hsa-miR-4778-5p	CLIP-seq
MIRT1185948	hsa-miR-4781-3p	CLIP-seq
MIRT2581348	hsa-miR-3160-5p	CLIP-seq
MIRT2581349	hsa-miR-3185	CLIP-seq
MIRT2581350	hsa-miR-3612	CLIP-seq
MIRT2581351	hsa-miR-3688-3p	CLIP-seq
MIRT2581352	hsa-miR-432	CLIP-seq
MIRT2581353	hsa-miR-4443	CLIP-seq
MIRT2581354	hsa-miR-4690-3p	CLIP-seq
MIRT2581355	hsa-miR-4719	CLIP-seq
MIRT2581356	hsa-miR-513b	CLIP-seq
MIRT2581357	hsa-miR-544	CLIP-seq
MIRT2581358	hsa-miR-650	CLIP-seq
MIRT2581359	hsa-miR-7	CLIP-seq
MIRT2581360	hsa-miR-767-3p	CLIP-seq
MIRT2581361	hsa-miR-891b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006107	Process	Oxaloacetate metabolic process	IBA
GO:0006107	Process	Oxaloacetate metabolic process	IDA	22674578
GO:0006528	Process	Asparagine metabolic process	IBA
GO:0006528	Process	Asparagine metabolic process	IDA	22674578
GO:0006541	Process	Glutamine metabolic process	IBA
GO:0006541	Process	Glutamine metabolic process	IDA	22674578
GO:0016787	Function	Hydrolase activity	IEA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0050152	Function	Omega-amidase activity	IBA
GO:0050152	Function	Omega-amidase activity	IDA	22674578
GO:0050152	Function	Omega-amidase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0106008	Function	2-oxoglutaramate amidase activity	IEA
GO:1904724	Component	Tertiary granule lumen	TAS

Other IDs

• MIM: 616769
• HGNC: 29878
• e!Ensembl: ENSG00000114021

Protein

• UniProt ID: Q9NQR4
• Protein name: Omega-amidase NIT2 (EC 3.5.1.3) (Nitrilase homolog 2)
• Protein function: Has omega-amidase activity (PubMed:19595734, PubMed:22674578). The role of omega-amidase is to remove potentially toxic intermediates by converting 2-oxoglutaramate and 2-oxosuccinamate to biologically useful 2-oxoglutarate and oxaloacetate, res
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00795	CN_hydrolase	5 → 256	Carbon-nitrogen hydrolase	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in fetal brain (at protein level). Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, prostate, spleen, thymus, prostate, testis, ovary, small intestine and colon. {ECO:0000269|PubM
• Sequence:

  MTSFRLALIQLQISSIKSDNVTRACSFIREAATQGAKIVSLPECFNSPYGAKYFPEYAEK
  IPGESTQKLSEVAKECSIYLIGGSIPEEDAGKLYNTCAVFGPDGTLLAKYRKIHLFDIDV
  PGKITFQESKTLSPGDSFSTFDTPYCRVGLGICYDMRFAELAQIYAQRGCQLLVYPGAFN
  LTTGPAHWELLQRSRAVDNQVYVATASPARDDKASYVAWGHSTVVNPWGEVLAKAGTEEA
  IVYSDIDLKKLAEIRQQIPVFRQKRSDLYAVEMKKP

• Sequence length: 276

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISUOSPATIAL IMPAIRMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	30514930		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25738796		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17488281		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25738796		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17488281, 25738796		★☆☆☆☆ Found in Text Mining only