TMEM156

transmembrane protein 156

Basic information

Region (hg38): 4:38966743-39032922

Links

ENSG00000121895 ∙ NCBI:80008 ∙ ∙ HGNC:26260 ∙ Uniprot:Q8N614 ∙ 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 TMEM156 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM156 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in TMEM156

This is a list of pathogenic ClinVar variants found in the TMEM156 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-38971112-C-G		not specified	Uncertain significance (Feb 28, 2023)
4-38986378-C-T		not specified	Uncertain significance (Oct 27, 2023)
4-38986401-G-A		not specified	Uncertain significance (Apr 14, 2022)
4-38988868-C-T		not specified	Uncertain significance (Apr 07, 2022)
4-38988943-C-A		not specified	Uncertain significance (Jul 05, 2022)
4-38988946-G-A		not specified	Uncertain significance (Apr 18, 2023)
4-38993777-A-G		not specified	Uncertain significance (Aug 16, 2021)
4-38993790-T-A		not specified	Uncertain significance (Apr 07, 2023)
4-38993936-A-G		not specified	Uncertain significance (May 24, 2023)
4-38998645-G-A		not specified	Uncertain significance (Aug 03, 2022)
4-38998648-G-A		not specified	Uncertain significance (Dec 16, 2023)
4-38998756-C-T		not specified	Likely benign (Nov 10, 2022)
4-38998903-G-A		not specified	Uncertain significance (Jul 13, 2022)
4-39032240-A-C		not specified	Uncertain significance (Mar 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM156	protein_coding	protein_coding	ENST00000381938	6	66178

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.34e-10	0.0488	125702	0	10	125712	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.193	157	150	1.04	0.00000725	1944
Missense in Polyphen		15	29.028	0.51674		457
Synonymous	-0.247	57	54.7	1.04	0.00000281	544
Loss of Function	-0.254	14	13.0	1.08	5.43e-7	189

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000178
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000548	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000190	0.0000176
Middle Eastern	0.0000548	0.0000544
South Asian	0.0000345	0.0000327
Other	0.000171	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.845
• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.31

Haploinsufficiency Scores

• pHI: 0.0662
• hipred: N
• hipred_score: 0.123
• ghis: 0.488

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.344

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem156

Gene ontology

• Cellular component: integral component of membrane