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GeneBe

TMEM120A

transmembrane protein 120A

Basic information

Region (hg38): 7:75986830-75994656

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.

  • Inborn genetic diseases (24 variants)
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (3 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.

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
0
missense
24
clinvar
 24
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
?
    Intron variants in splice region, excluding donor/acceptor (+/-2bp)
 0
non coding
?
    UTR, intron and other, non coding variants
3
clinvar
 3
Total 0 0 27 0 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)360732
7-75986859-G-A Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Uncertain significance (Jan 13, 2018)910529
7-75986867-T-G Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Uncertain significance (Jan 13, 2018)910530
7-75987189-C-T not specified Uncertain significance (Aug 16, 2021)2285382
7-75987209-T-A not specified Uncertain significance (May 17, 2023)2547333
7-75987221-A-T not specified Uncertain significance (Mar 02, 2023)2493472
7-75987273-C-T not specified Uncertain significance (Aug 01, 2022)2223026
7-75987277-C-T not specified Uncertain significance (Apr 24, 2023)2539896
7-75987282-G-T not specified Uncertain significance (Dec 09, 2023)3178467
7-75987408-C-T not specified Likely benign (Nov 14, 2023)3178466
7-75987579-G-A not specified Uncertain significance (Dec 06, 2023)2397964
7-75987756-C-T not specified Uncertain significance (Oct 22, 2021)2349069
7-75987775-C-T not specified Uncertain significance (Jul 20, 2021)2261124
7-75987971-T-C not specified Uncertain significance (May 17, 2023)2547615
7-75987977-C-T not specified Uncertain significance (May 27, 2022)2351806
7-75988086-G-A not specified Uncertain significance (Apr 05, 2023)2508113
7-75988268-T-G not specified Uncertain significance (Oct 03, 2023)3178465
7-75988440-G-A not specified Uncertain significance (Dec 02, 2021)2362269
7-75988500-C-T not specified Uncertain significance (Mar 29, 2022)2280647
7-75988501-G-T not specified Uncertain significance (Nov 14, 2023)3178464
7-75989186-G-A not specified Uncertain significance (Nov 08, 2021)2367867
7-75989192-T-C not specified Uncertain significance (Feb 28, 2023)2491361
7-75989211-G-C not specified Uncertain significance (Aug 08, 2022)2305661
7-75992193-G-A not specified Uncertain significance (Nov 17, 2022)2241258
7-75992223-C-T not specified Uncertain significance (Oct 06, 2021)2253826

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
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
S
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.318

Mouse Genome Informatics

Gene name
Tmem120a
Phenotype

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