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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			29			29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	32	1	0

Variants in TMEM120A

This is a list of pathogenic ClinVar variants found in the TMEM120A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-75986853-G-A		Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Uncertain significance (Jan 12, 2018)
7-75986859-G-A		Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Uncertain significance (Jan 13, 2018)
7-75986867-T-G		Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Uncertain significance (Jan 13, 2018)
7-75987189-C-T		not specified	Uncertain significance (Aug 16, 2021)
7-75987194-C-T		not specified	Uncertain significance (Jun 17, 2024)
7-75987197-T-C		not specified	Uncertain significance (Mar 29, 2024)
7-75987209-T-A		not specified	Uncertain significance (May 17, 2023)
7-75987221-A-T		not specified	Uncertain significance (Mar 02, 2023)
7-75987273-C-T		not specified	Uncertain significance (Oct 08, 2024)
7-75987277-C-T		not specified	Uncertain significance (Apr 24, 2023)
7-75987282-G-T		not specified	Uncertain significance (Dec 09, 2023)
7-75987408-C-T		not specified	Likely benign (Nov 14, 2023)
7-75987579-G-A		not specified	Uncertain significance (Dec 06, 2023)
7-75987585-T-A		not specified	Uncertain significance (May 31, 2024)
7-75987756-C-T		not specified	Uncertain significance (Oct 22, 2021)
7-75987775-C-T		not specified	Uncertain significance (Jul 20, 2021)
7-75987971-T-C		not specified	Uncertain significance (May 17, 2023)
7-75987977-C-T		not specified	Uncertain significance (Sep 10, 2024)
7-75988086-G-A		not specified	Uncertain significance (Apr 05, 2023)
7-75988101-G-A		not specified	Uncertain significance (Nov 24, 2024)
7-75988260-G-T		not specified	Uncertain significance (Sep 02, 2024)
7-75988268-T-G		not specified	Uncertain significance (Oct 03, 2023)
7-75988282-C-T		not specified	Uncertain significance (Apr 24, 2024)
7-75988440-G-A		not specified	Uncertain significance (Dec 02, 2021)
7-75988470-T-C		not specified	Uncertain significance (Dec 04, 2024)

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