EVA1A (eva-1 homolog A, regulator of programmed cell death)

Gene

• Entrez ID: 84141
• Gene name: Eva-1 homolog A, regulator of programmed cell death
• Gene symbol: EVA1A
• Synonyms (NCBI Gene): FAM176A, TMEM166
• Chromosome: 2
• Chromosome location: 2p12

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003214	Process	Cardiac left ventricle morphogenesis	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006112	Process	Energy reserve metabolic process	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007507	Process	Heart development	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016020	Component	Membrane	IEA
GO:0030324	Process	Lung development	IEA
GO:0031929	Process	TOR signaling	IEA
GO:0097709	Process	Connective tissue replacement	IEA

Other IDs

• MIM: 618990
• HGNC: 25816
• e!Ensembl: ENSG00000115363

Protein

• UniProt ID: Q9H8M9
• Protein name: Protein eva-1 homolog A (Protein FAM176A) (Transmembrane protein 166)
• Protein function: Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14851	FAM176	13 → 152	FAM176 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in lung, kidney, liver, pancreas, placenta, but not in heart and skeletal muscle. {ECO:0000269|PubMed:17492404}.
• Sequence:

  MRLPLSHSPEHVEMALLSNILAAYSFVSENPERAALYFVSGVCIGLVLTLAALVIRISCH
  TDCRRRPGKKFLQDRESSSDSSDSEDGSEDTVSDLSVRRHRRFERTLNKNVFTSAEELER
  AQRLEERERIIREIWMNGQPEVPGTRSLNRYY

• Sequence length: 152

Pathways

Reactome:

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation

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
EARLY-ONSET ALZHEIMERS DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EVA1A-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	25640383		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35440104	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29749374, 31754186, 36273122	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28151473		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36303457	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28151473		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	36303457	Associate	★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	17309879		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23098460	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28185834		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28185834		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28151473		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28044434		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36303457	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29749374, 30143606, 31754186		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	29991758		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24257118	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24257118		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22960574, 28185834		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36303457	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22495369, 22960574, 23098460, 24257118, 28185834, 29749374		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	25640383		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25640383	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	25640383	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	36078115	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23098460		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32969138	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32969138, 34167437	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35440104	Associate	★☆☆☆☆ Found in Text Mining only