TMEM150B

transmembrane protein 150B

Basic information

Region (hg38): 19:55312801-55334048

Previous symbols: [ "TMEM224" ]

Links

ENSG00000180061 ∙ NCBI:284417 ∙ OMIM:617291 ∙ HGNC:34415 ∙ Uniprot:A6NC51 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TMEM150B gene.

• not_specified (45 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM150B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001282011.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			42	3		45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM150B	protein_coding	protein_coding	ENST00000326652	6	21248

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.51e-8	0.104	124808	1	35	124844	0.000144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.266	145	136	1.06	0.00000845	1476
Missense in Polyphen		62	49.551	1.2512		567
Synonymous	1.03	53	63.5	0.835	0.00000450	491
Loss of Function	-0.226	11	10.2	1.08	4.39e-7	107

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000652	0.000638
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000556
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000153	0.000150
Middle Eastern	0.0000557	0.0000556
South Asian	0.000133	0.0000980
Other	0.000360	0.000329

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Modulator of macroautophagy that causes accumulation of autophagosomes under basal conditions and enhances autophagic flux (PubMed:25929859). Represses cell death and promotes long-term clonogenic survival of cells grown in the absence of glucose in a macroautophagy-independent manner (PubMed:25929859). May have some role in extracellular matrix engulfment or growth factor receptor recycling, both of which can modulate cell survival (PubMed:25929859). {ECO:0000269|PubMed:25929859}.

Intolerance Scores

• loftool: 0.669
• rvis_EVS: -0.09
• rvis_percentile_EVS: 46.74

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.170
• ghis: 0.510

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Tmem150b

Gene ontology

• Biological process: autophagy;regulation of autophagy
• Cellular component: autophagosome membrane;lysosome;integral component of plasma membrane;endosome membrane