TMEM204 (transmembrane protein 204)

Gene

• Entrez ID: 79652
• Gene name: Transmembrane protein 204
• Gene symbol: TMEM204
• Synonyms (NCBI Gene): C16orf30, CLP24
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016365	hsa-miR-193b-3p	Microarray	20304954
MIRT1435094	hsa-miR-1909	CLIP-seq
MIRT1435095	hsa-miR-3164	CLIP-seq
MIRT1435096	hsa-miR-3165	CLIP-seq
MIRT1435097	hsa-miR-323-5p	CLIP-seq
MIRT1435098	hsa-miR-4271	CLIP-seq
MIRT1435099	hsa-miR-4725-3p	CLIP-seq
MIRT1435100	hsa-miR-876-3p	CLIP-seq
MIRT1435094	hsa-miR-1909	CLIP-seq
MIRT1435095	hsa-miR-3164	CLIP-seq
MIRT1435098	hsa-miR-4271	CLIP-seq
MIRT1435099	hsa-miR-4725-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001945	Process	Lymph vessel development	IBA
GO:0001945	Process	Lymph vessel development	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0016020	Component	Membrane	IEA
GO:0030947	Process	Regulation of vascular endothelial growth factor receptor signaling pathway	IBA
GO:0030947	Process	Regulation of vascular endothelial growth factor receptor signaling pathway	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IBA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 611002
• HGNC: 14158
• e!Ensembl: ENSG00000131634

Protein

• UniProt ID: Q9BSN7
• Protein name: Transmembrane protein 204 (Claudin-like protein 24)
• Protein function: Can influence paracellular permeability. Appears to be involved in cell-cell interactions through adherens.
• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in lung, heart, kidney and placenta. Lower expression in thymus, spleen, liver, testis and ovary. Expressed in endothelial and restricted epithelial cell populations. {ECO:0000269|PubMed:15206924}.
• Sequence:

  MTVQRLVAAAVLVALVSLILNNVAAFTSNWVCQTLEDGRRRSVGLWRSCWLVDRTRGGPS
  PGARAGQVDAHDCEALGWGSEAAGFQESRGTVKLQFDMMRACNLVATAALTAGQLTFLLG
  LVGLPLLSPDAPCWEEAMAAAFQLASFVLVIGLVTFYRIGPYTNLSWSCYLNIGACLLAT
  LAAAMLIWNILHKREDCMAPRVIVISRSLTARFRRGLDNDYVESPC

• Sequence length: 226

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
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAINZER-SALDINO DISEASE	—	Disgenet	★★☆☆☆ 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
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21723258		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21723258		★☆☆☆☆ Found in Text Mining only