Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10430
Gene name	Transmembrane protein 147
Gene symbol	TMEM147
Synonyms (NCBI Gene)	NEDFLPHNIFIE14
Chromosome	19
Chromosome location	19q13.12

Show/Hide all (23)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027608	hsa-miR-98-5p	Microarray	19088304
MIRT050475	hsa-miR-21-5p	CLASH	23622248
MIRT037287	hsa-miR-877-5p	CLASH	23622248
MIRT1431349	hsa-miR-1207-5p	CLIP-seq
MIRT1431350	hsa-miR-122	CLIP-seq
MIRT1431351	hsa-miR-1827	CLIP-seq
MIRT1431352	hsa-miR-200b	CLIP-seq
MIRT1431353	hsa-miR-200c	CLIP-seq
MIRT1431354	hsa-miR-3682-5p	CLIP-seq
MIRT1431355	hsa-miR-4254	CLIP-seq
MIRT1431356	hsa-miR-429	CLIP-seq
MIRT1431357	hsa-miR-4316	CLIP-seq
MIRT1431358	hsa-miR-452	CLIP-seq
MIRT1431359	hsa-miR-4668-5p	CLIP-seq
MIRT1431360	hsa-miR-4676-3p	CLIP-seq
MIRT1431361	hsa-miR-4763-3p	CLIP-seq
MIRT1431362	hsa-miR-490-3p	CLIP-seq
MIRT1431363	hsa-miR-499-3p	CLIP-seq
MIRT1431364	hsa-miR-499a-3p	CLIP-seq
MIRT1431365	hsa-miR-548aa	CLIP-seq
MIRT1431366	hsa-miR-548m	CLIP-seq
MIRT1431367	hsa-miR-619	CLIP-seq
MIRT1431368	hsa-miR-940	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	14667819, 20538592, 21056967, 25416956, 28514442, 31515488, 32296183, 32694168, 32820719, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	36044892
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	20538592, 21056967
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0016020	Component	Membrane	IEA
GO:0031965	Component	Nuclear membrane	IDA	32694168
GO:0031965	Component	Nuclear membrane	IEA
GO:0032991	Component	Protein-containing complex	IDA	20538592
GO:0036228	Process	Protein localization to nuclear inner membrane	IDA	32694168
GO:0043022	Function	Ribosome binding	IDA	32820719
GO:0160063	Process	Multi-pass transmembrane protein insertion into ER membrane	IDA	36261522
GO:0160064	Component	Multi-pass translocon complex	IDA	36261522

MIM	HGNC	e!Ensembl
613585	30414	ENSG00000105677

Q9BVK8

Protein name

BOS complex subunit TMEM147 (Protein NIFIE 14) (Transmembrane protein 147)

Protein function

Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following me

PDB

6W6L , 9C7U , 9C7V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09767	DUF2053	2 → 158	Predicted membrane protein (DUF2053)	Family

Sequence

MTLFHFGNCFALAYFPYFITYKCSGLSEYNAFWKCVQAGVTYLFVQLCKMLFLATFFPTW
EGGIYDFIGEFMKASVDVADLIGLNLVMSRNAGKGEYKIMVAALGWATAELIMSRCIPLW
VGARGIEFDWKYIQMSIDSNISLVHYIVASAQVWMITRYDLYHTFRPAVLLLMFLSVYKA
FVMETFVHLCSLGSWAALLARAVVTGLLALSTLALYVAVVNVHS

Sequence length

224

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)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic; Pathogenic	rs749966973	RCV002287184	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Absent speech	Likely pathogenic; Pathogenic	rs749966973	RCV002287184	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Pathogenic	rs566519921	RCV005931683	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor delay	Likely pathogenic; Pathogenic	rs749966973	RCV002287184	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	Pathogenic; Likely pathogenic	rs1235530554, rs2514732447, rs2514729323, rs371795896, rs749966973, rs566519921, rs2514732396, rs781371223, rs771380575, rs2514732927, rs2514731343, rs2514731335	RCV002294531 RCV002294532 RCV002294533 RCV002292388 RCV002292389 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Poor speech	Likely pathogenic; Pathogenic	rs749966973	RCV002287184	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Likely pathogenic; Pathogenic	rs749966973	RCV002287184	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	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.
BILIARY ATRESIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMEM147-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis	Arthritis	BEFREE	31785076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37305349, 37305689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37891677	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31180534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36044892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	36044892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36044892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31180534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31785076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37303938	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34414701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TMEM147 (transmembrane protein 147)