TMEM184C

transmembrane protein 184C

Basic information

Region (hg38): 4:147617385-147672044

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.

• Neurodevelopmental abnormality (7 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.

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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	7		34	2		43
Total	7	0	47	2	0

Highest pathogenic variant AF is 0.0000266

Variants in TMEM184C

This is a list of pathogenic ClinVar variants found in the TMEM184C region.

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

Position	Type	Phenotype	Significance	ClinVar
4-147617990-C-G		not specified	Uncertain significance (Mar 01, 2024)
4-147618045-T-C		not specified	Uncertain significance (Aug 30, 2021)
4-147623927-C-A		not specified	Uncertain significance (Apr 23, 2024)
4-147624097-G-A		not specified	Uncertain significance (Jan 26, 2023)
4-147624825-G-A		not specified	Uncertain significance (Jan 05, 2022)
4-147624919-G-A		not specified	Uncertain significance (Apr 18, 2023)
4-147624933-G-A		not specified	Uncertain significance (Aug 06, 2021)
4-147624972-C-T		not specified	Uncertain significance (Jul 26, 2021)
4-147625003-T-C		not specified	Uncertain significance (Apr 27, 2022)
4-147628428-G-A		not specified	Uncertain significance (Sep 28, 2021)
4-147632956-A-G		not specified	Uncertain significance (Jan 26, 2023)
4-147632983-C-G		not specified	Uncertain significance (May 09, 2022)
4-147634291-C-T		not specified	Uncertain significance (Apr 25, 2023)
4-147634360-A-G		not specified	Uncertain significance (Jun 10, 2022)
4-147638546-T-C		not specified	Uncertain significance (Apr 12, 2022)
4-147638605-A-G		not specified	Uncertain significance (Mar 14, 2023)
4-147638651-A-T		not specified	Uncertain significance (Dec 03, 2021)
4-147638665-G-A		Neurodevelopmental abnormality	Uncertain significance (Aug 02, 2022)
4-147638713-A-AT		Neurodevelopmental abnormality	Pathogenic (Aug 02, 2022)
4-147638727-TC-T		Neurodevelopmental abnormality	Pathogenic (Aug 02, 2022)
4-147639076-T-G		not specified	Uncertain significance (Sep 01, 2021)
4-147642797-T-C		not specified	Uncertain significance (May 31, 2023)
4-147642831-G-A		not specified	Uncertain significance (Jul 12, 2022)
4-147642866-G-A		not specified	Uncertain significance (Dec 13, 2023)
4-147642879-C-G		not specified	Uncertain significance (Dec 13, 2022)

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