TMEM120A

transmembrane protein 120A

Basic information

Region (hg38): 7:75986831-75994656

Links

ENSG00000189077 ∙ NCBI:83862 ∙ OMIM:616550 ∙ HGNC:21697 ∙ Uniprot:Q9BXJ8 ∙ 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 TMEM120A gene.

• not_specified (53 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM120A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031925.3. 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				1		1
missense			51	1		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	51	2	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Necessary for efficient adipogenesis (PubMed:26024229). {ECO:0000269|PubMed:26024229}.

Recessive Scores

• pRec: 0.109

Haploinsufficiency Scores

• pHI: 0.180

Essentials

• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.318

Mouse Genome Informatics

• Gene name: Tmem120a

Gene ontology

• Biological process: fat cell differentiation;protein homooligomerization;protein heterooligomerization
• Cellular component: cellular_component;nuclear inner membrane;integral component of membrane
• Molecular function: molecular_function