COXFA4L2 (cytochrome c oxidase hypoxia associated subunit FA4L2)

Gene

• Entrez ID: 56901
• Gene name: Cytochrome c oxidase hypoxia associated subunit FA4L2
• Gene symbol: COXFA4L2
• Synonyms (NCBI Gene): MISTRH, NDUFA4L2, NUOMS
• Chromosome: 12
• Chromosome location: 12q13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017521	hsa-miR-335-5p	Microarray	18185580
MIRT1178777	hsa-miR-1285	CLIP-seq
MIRT1178778	hsa-miR-1291	CLIP-seq
MIRT1178779	hsa-miR-1321	CLIP-seq
MIRT1178780	hsa-miR-2053	CLIP-seq
MIRT1178781	hsa-miR-3187-5p	CLIP-seq
MIRT1178782	hsa-miR-3619-3p	CLIP-seq
MIRT1178783	hsa-miR-3646	CLIP-seq
MIRT1178784	hsa-miR-3690	CLIP-seq
MIRT1178785	hsa-miR-4308	CLIP-seq
MIRT1178786	hsa-miR-4690-3p	CLIP-seq
MIRT1178787	hsa-miR-4728-5p	CLIP-seq
MIRT1178788	hsa-miR-4739	CLIP-seq
MIRT1178789	hsa-miR-4756-5p	CLIP-seq
MIRT1178790	hsa-miR-4776-5p	CLIP-seq
MIRT1178791	hsa-miR-612	CLIP-seq
MIRT1178792	hsa-miR-661	CLIP-seq
MIRT1178793	hsa-miR-939	CLIP-seq
MIRT1178777	hsa-miR-1285	CLIP-seq
MIRT1178778	hsa-miR-1291	CLIP-seq
MIRT1178781	hsa-miR-3187-5p	CLIP-seq
MIRT1178782	hsa-miR-3619-3p	CLIP-seq
MIRT1178784	hsa-miR-3690	CLIP-seq
MIRT1178785	hsa-miR-4308	CLIP-seq
MIRT1178790	hsa-miR-4776-5p	CLIP-seq
MIRT1178791	hsa-miR-612	CLIP-seq
MIRT1178792	hsa-miR-661	CLIP-seq
MIRT1178777	hsa-miR-1285	CLIP-seq
MIRT1178778	hsa-miR-1291	CLIP-seq
MIRT1178781	hsa-miR-3187-5p	CLIP-seq
MIRT1178782	hsa-miR-3619-3p	CLIP-seq
MIRT1178784	hsa-miR-3690	CLIP-seq
MIRT1178785	hsa-miR-4308	CLIP-seq
MIRT1178790	hsa-miR-4776-5p	CLIP-seq
MIRT1178791	hsa-miR-612	CLIP-seq
MIRT1178792	hsa-miR-661	CLIP-seq
MIRT1178777	hsa-miR-1285	CLIP-seq
MIRT1178778	hsa-miR-1291	CLIP-seq
MIRT1178781	hsa-miR-3187-5p	CLIP-seq
MIRT1178782	hsa-miR-3619-3p	CLIP-seq
MIRT1178784	hsa-miR-3690	CLIP-seq
MIRT1178785	hsa-miR-4308	CLIP-seq
MIRT1178790	hsa-miR-4776-5p	CLIP-seq
MIRT1178791	hsa-miR-612	CLIP-seq
MIRT1178792	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0045277	Component	Respiratory chain complex IV	IBA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q9NRX3
• Protein name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2 (NADH-ubiquinone oxidoreductase MLRQ subunit homolog) (NUOMS)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06522	B12D	16 → 84	NADH-ubiquinone reductase complex 1 MLRQ subunit	Family

• Sequence:

  MAGASLGARFYRQIKRHPGIIPMIGLICLGMGSAALYLLRLALRSPDVCWDRKNNPEPWN
  RLSPNDQYKFLAVSTDYKKLKKDRPDF

• Sequence length: 87

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Retrograde endocannabinoid signaling
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

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
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	25448601	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	37558878	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31277598, 36369883	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30710412		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26831905, 27453328, 36722045	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27226356		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37933010	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27453328, 29158991, 30538212		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	31740659		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33066813	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26819450		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30710412	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30710412		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26819450, 29158991		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26819450, 27226356, 29158991		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27453328		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	27453328	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30710412		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	19192274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Deprivation	Sleep deprivation	Pubtator	36722045	Stimulate	★☆☆☆☆ Found in Text Mining only