TMEM147

Chr 19q13.12

transmembrane protein 147

Aliases:: NIFIE14, MGC1936
MANE:: ENST00000222284.10

OMIM: 613585 ↗NCBI: 10430 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TMEM147 · Q9BVK8

v62025-08-01

Predicted Aligned Error matrix for TMEM147 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.5/ 100

Very high

224 residues

Confidence breakdown

Very high(≥ 90)75%
Confident(70–90)24%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
0.77
Motor delay
0.34
Absent speech
0.34
Abnormal facial shape
0.34
Severe intellectual disability
0.34
Poor speech
0.34
hereditary disease
0.19
cholelithiasis
0.13
gallstones
0.12
hepatocellular carcinoma
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

BOS complex subunit TMEM147

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 membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522). Also acts as a negative regulator of CHRM3 function, most likely by interfering with its trafficking to the cell membrane (PubMed:21056967). Negatively regulates CHRM3-mediated calcium mobilization and activation of RPS6KA1/p90RSK activity (PubMed:21056967). Regulates LBR localization to the nucleus inner membrane (PubMed:32694168)