Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	219902
Gene name	TLC domain containing 5
Gene symbol	TLCD5
Synonyms (NCBI Gene)	TMEM136
Chromosome	11
Chromosome location	11q23.3

GO ID	Ontology	Definition	Evidence	Reference
GO:0016020	Component	Membrane	IEA

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q6ZRR5

Protein name

TLC domain-containing protein 5 (Transmembrane protein 136)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03798	TRAM_LAG1_CLN8	33 → 220	TLC domain	Domain

Sequence

MALALCLQVLCSLCGWLSLYISFCHLNKHRSYEWSCRLVTFTHGVLSIGLSAYIGFIDGP
WPFTHPGSPNTPLQVHVLCLTLGYFIFDLGWCVYFQSEGALMLAHHTLSILGIIMALVLG
ESGTEVNAVLFGSELTNPLLQMRWFLRETGHYHSFTGDVVDFLFVALFTGVRIGVGACLL
FCEMVSPTPKWFVKAGGVAMYAVSWCFMFSIWRFAWRKSIKKYHAWRSRRSEERQLKHNG
HLKIH

Sequence length

245

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (7)
CORONARY ARTERY DISEASE	—	GWAS catalog	33020668, 36474045	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	32341527	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	33627673	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25193853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	CTD_human_DG	28553957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	29419649		★★★★★ ★☆☆☆☆ Found in Text Mining only

TLCD5 (TLC domain containing 5)

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