TMEM184C

transmembrane protein 184C

Basic information

Region (hg38): 4:147617386-147672044

Previous symbols: [ "TMEM34" ]

Links

ENSG00000164168 ∙ NCBI:55751 ∙ OMIM:613937 ∙ HGNC:25587 ∙ Uniprot:Q9NVA4 ∙ 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 TMEM184C gene.

• not_specified (26 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM184C gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018241.3. 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						0
missense			26			26
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	26	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM184C	protein_coding	protein_coding	ENST00000296582	10	54662

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0686	0.931	125710	1	35	125746	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.57	121	231	0.524	0.0000110	2842
Missense in Polyphen		18	54.749	0.32877		712
Synonymous	1.83	63	84.5	0.746	0.00000440	833
Loss of Function	3.39	7	25.4	0.275	0.00000108	308

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000884	0.0000884
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.000330	0.000326
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000116	0.000114
Middle Eastern	0.000330	0.000326
South Asian	0.000369	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possible tumor suppressor which may play a role in cell growth. {ECO:0000269|PubMed:17072649}.

Intolerance Scores

• loftool: 0.570
• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.68

Haploinsufficiency Scores

• pHI: 0.106
• hipred: Y
• hipred_score: 0.639
• ghis: 0.619

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.508

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem184c

Gene ontology

• Cellular component: integral component of membrane