TMEM184A

transmembrane protein 184A

Basic information

Region (hg38): 7:1542235-1560821

Links

ENSG00000164855 ∙ NCBI:202915 ∙ ∙ HGNC:28797 ∙ Uniprot:Q6ZMB5 ∙ 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 TMEM184A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM184A 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					3	3
missense			37	1	1	39
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	1	5

Variants in TMEM184A

This is a list of pathogenic ClinVar variants found in the TMEM184A region.

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

Position	Type	Phenotype	Significance	ClinVar
7-1546959-T-C		not specified	Uncertain significance (Jun 02, 2023)
7-1546969-G-A		not specified	Uncertain significance (Jun 21, 2022)
7-1546969-G-C		not specified	Uncertain significance (Aug 01, 2022)
7-1547007-C-T		not specified	Uncertain significance (Aug 15, 2023)
7-1547016-G-A		not specified	Uncertain significance (Nov 08, 2022)
7-1547017-A-AGCC			Benign (Sep 12, 2018)
7-1547074-A-G		not specified	Uncertain significance (Dec 21, 2023)
7-1547086-C-T		not specified	Uncertain significance (Jun 21, 2023)
7-1547089-G-A		not specified	Uncertain significance (Oct 10, 2023)
7-1547150-G-T		not specified	Uncertain significance (Jun 29, 2023)
7-1547173-C-T		not specified	Uncertain significance (Feb 06, 2023)
7-1547758-C-G		not specified	Uncertain significance (Feb 28, 2024)
7-1547766-C-T		not specified	Uncertain significance (May 13, 2022)
7-1547823-C-T		not specified	Uncertain significance (Aug 01, 2022)
7-1547832-T-C		not specified	Uncertain significance (Mar 07, 2024)
7-1547847-C-T		not specified	Uncertain significance (Sep 20, 2023)
7-1547900-G-A		not specified	Uncertain significance (Mar 06, 2023)
7-1548529-C-T			Benign (Jun 26, 2018)
7-1548554-G-A		not specified	Uncertain significance (Sep 20, 2023)
7-1548585-G-A		not specified	Uncertain significance (Aug 11, 2022)
7-1548606-A-G		not specified	Uncertain significance (Feb 14, 2023)
7-1548648-C-A		not specified	Uncertain significance (Jun 16, 2024)
7-1548678-C-T		not specified	Uncertain significance (Jun 28, 2023)
7-1549868-G-T		not specified	Uncertain significance (Feb 17, 2022)
7-1549916-G-A			Benign (Jul 15, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM184A	protein_coding	protein_coding	ENST00000297477	8	18587

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.66e-11	0.0931	125567	0	63	125630	0.000251

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.503	296	273	1.09	0.0000183	2638
Missense in Polyphen		69	64.357	1.0721		709
Synonymous	-2.23	162	130	1.25	0.00000996	853
Loss of Function	0.345	17	18.6	0.914	8.47e-7	195

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000711	0.000688
Ashkenazi Jewish	0.00	0.00
East Asian	0.000445	0.000435
Finnish	0.0000532	0.0000462
European (Non-Finnish)	0.000221	0.000211
Middle Eastern	0.000445	0.000435
South Asian	0.000264	0.000261
Other	0.000340	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a heparin receptor in vascular cells (By similarity). May be involved in vesicle transport in exocrine cells and Sertoli cells (By similarity). {ECO:0000250|UniProtKB:Q3UFJ6, ECO:0000250|UniProtKB:Q4QQS1}.

Intolerance Scores

• loftool: 0.750
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.57

Haploinsufficiency Scores

• pHI: 0.118
• hipred: N
• hipred_score: 0.219
• ghis: 0.562

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.623

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem184a

Gene ontology

• Cellular component: endosome;plasma membrane;integral component of membrane;transport vesicle membrane;cytoplasmic vesicle membrane;secretory granule membrane;early endosome membrane;perinuclear region of cytoplasm
• Molecular function: heparin binding