TMEM185A

transmembrane protein 185A

Basic information

Region (hg38): X:149596556-149631912

Previous symbols: [ "CXorf13", "FAM11A", "FRAXF" ]

Links

ENSG00000269556 ∙ NCBI:84548 ∙ OMIM:300031 ∙ HGNC:17125 ∙ Uniprot:Q8NFB2 ∙ 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 TMEM185A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM185A 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			6	1		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	1	0

Variants in TMEM185A

This is a list of pathogenic ClinVar variants found in the TMEM185A region.

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

Position	Type	Phenotype	Significance	ClinVar
X-149599565-C-T		not specified	Likely benign (Jan 23, 2023)
X-149604010-T-C		not specified	Uncertain significance (Apr 16, 2024)
X-149604048-T-A		not specified	Uncertain significance (Jun 23, 2023)
X-149608643-T-C		not specified	Uncertain significance (Dec 04, 2023)
X-149608817-C-A		not specified	Uncertain significance (Jun 26, 2024)
X-149611302-C-T		not specified	Uncertain significance (Jan 04, 2024)
X-149611399-T-A		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.113

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.397
• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem185a

Gene ontology

• Cellular component: integral component of membrane;dendrite
• Molecular function: protein binding