TMEM181

transmembrane protein 181, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 6:158536436-158635433

Previous symbols: [ "KIAA1423", "GPR178" ]

Links

ENSG00000146433 ∙ NCBI:57583 ∙ OMIM:613209 ∙ HGNC:20958 ∙ Uniprot:Q9P2C4 ∙ 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 TMEM181 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM181 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			30	2	1	33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			7	1		8
Total	0	0	37	3	1

Variants in TMEM181

This is a list of pathogenic ClinVar variants found in the TMEM181 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-158536462-T-C		not specified	Uncertain significance (May 28, 2024)
6-158536469-C-T		not specified	Uncertain significance (Sep 22, 2023)
6-158536510-C-T		not specified	Uncertain significance (Jan 04, 2024)
6-158536513-A-C		not specified	Uncertain significance (Jan 26, 2022)
6-158536540-G-T		not specified	Uncertain significance (Mar 01, 2023)
6-158536544-G-T		not specified	Uncertain significance (Sep 20, 2023)
6-158536575-T-G		not specified	Uncertain significance (May 09, 2022)
6-158536657-T-A		not specified	Likely benign (Feb 07, 2023)
6-158536718-C-A		not specified	Uncertain significance (Apr 12, 2022)
6-158536741-G-A		not specified	Uncertain significance (Nov 09, 2023)
6-158536762-C-T		not specified	Uncertain significance (Aug 15, 2023)
6-158536787-A-C		not specified	Uncertain significance (May 15, 2024)
6-158536825-A-C		not specified	Uncertain significance (Aug 23, 2021)
6-158536830-G-T		not specified	Uncertain significance (Feb 05, 2024)
6-158536856-G-A		not specified	Uncertain significance (Dec 01, 2023)
6-158573425-C-T		not specified	Uncertain significance (Dec 30, 2023)
6-158573431-T-C		not specified	Uncertain significance (Oct 25, 2022)
6-158573443-C-T		not specified	Uncertain significance (Jan 04, 2022)
6-158573455-G-A		not specified	Uncertain significance (Jun 27, 2022)
6-158573488-T-C		not specified	Uncertain significance (Jan 10, 2023)
6-158573511-G-A		not specified	Uncertain significance (Dec 20, 2023)
6-158573511-G-T		not specified	Uncertain significance (Jan 19, 2024)
6-158584027-A-C		not specified	Uncertain significance (Jan 24, 2024)
6-158585310-C-A		not specified	Uncertain significance (Aug 09, 2021)
6-158589673-A-C		not specified	Uncertain significance (Oct 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM181	protein_coding	protein_coding	ENST00000367090	17	98993

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00749	0.992	124760	0	34	124794	0.000136

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0250	321	322	0.996	0.0000179	3907
Missense in Polyphen		88	109.75	0.80181		1309
Synonymous	-0.597	146	137	1.06	0.00000810	1224
Loss of Function	3.67	10	32.6	0.307	0.00000154	391

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000264	0.000250
Ashkenazi Jewish	0.00	0.00
East Asian	0.000229	0.000223
Finnish	0.000528	0.000417
European (Non-Finnish)	0.0000888	0.0000883
Middle Eastern	0.000229	0.000223
South Asian	0.000131	0.000131
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates action of cytolethal distending toxins (CDT), which are secreted by many pathogenic bacteria. Expression level of TMEM181 is rate-limiting for intoxication. {ECO:0000269|PubMed:19965467}.

Intolerance Scores

• loftool: 0.267
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.38

Haploinsufficiency Scores

• pHI: 0.113
• hipred: N
• hipred_score: 0.436
• ghis: 0.469

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.442

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem181a
• Phenotype: skeleton phenotype

Gene ontology

• Biological process: pathogenesis
• Cellular component: integral component of membrane
• Molecular function: toxic substance binding