TMEM219 (transmembrane protein 219)

Gene

• Entrez ID: 124446
• Gene name: Transmembrane protein 219
• Gene symbol: TMEM219
• Synonyms (NCBI Gene): IGFBP-3R, IGFBP3R
• Chromosome: 16
• Chromosome location: 16p11.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2645566	hsa-miR-1228	CLIP-seq
MIRT2645567	hsa-miR-3622a-3p	CLIP-seq
MIRT2645568	hsa-miR-3622b-3p	CLIP-seq
MIRT2645569	hsa-miR-4251	CLIP-seq
MIRT2645570	hsa-miR-4324	CLIP-seq
MIRT2645571	hsa-miR-4471	CLIP-seq
MIRT2645572	hsa-miR-539	CLIP-seq
MIRT2645566	hsa-miR-1228	CLIP-seq
MIRT2645567	hsa-miR-3622a-3p	CLIP-seq
MIRT2645568	hsa-miR-3622b-3p	CLIP-seq
MIRT2645569	hsa-miR-4251	CLIP-seq
MIRT2645570	hsa-miR-4324	CLIP-seq
MIRT2645571	hsa-miR-4471	CLIP-seq
MIRT2645572	hsa-miR-539	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20353938, 27629921, 29427412
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 620290
• HGNC: 25201
• e!Ensembl: ENSG00000149932

Protein

• UniProt ID: Q86XT9
• Protein name: Insulin-like growth factor-binding protein 3 receptor (IGFBP-3R) (Transmembrane protein 219)
• Protein function: Cell death receptor specific for IGFBP3, may mediate caspase-8-dependent apoptosis upon ligand binding.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14940	TMEM219	10 → 85	Transmembrane 219	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in normal tissues but suppressed in prostate and breast tumor. {ECO:0000269|PubMed:20353938}.
• Sequence:

  MGNCQAGHNLHLCLAHHPPLVCATLILLLLGLSGLGLGSFLLTHRTGLRSPDIPQDWVSF
  LRSFGQLTLCPRNGTVTGKWRGSHVVGLLTTLNFGDGPDRNKTRTFQATVLGSQMGLKGS
  SAGQLVLITARVTTERTAGTCLYFSAVPGILPSSQPPISCSEEGAGNATLSPRMGEECVS
  VWSHEGLVLTKLLTSEELALCGSRLLVLGSFLLLFCGLLCCVTAMCFHPRRESHWSRTRL
  

• Sequence length: 240

Pathways

Reactome:

TP53 Regulates Transcription of Death Receptors and Ligands

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
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	BEFREE	21383009		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20353938		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23498137		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30940143		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20353938		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23498137		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20353938		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20353938		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31165486		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20353938		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	34715901	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026, 29483656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	34715901	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations