TMEM178B

transmembrane protein 178B

Basic information

Region (hg38): 7:141074063-141480380

Links

ENSG00000261115 ∙ NCBI:100507421 ∙ ∙ HGNC:44112 ∙ Uniprot:H3BS89 ∙ 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 TMEM178B gene.

• Inborn genetic diseases (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM178B 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in TMEM178B

This is a list of pathogenic ClinVar variants found in the TMEM178B region.

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

Position	Type	Phenotype	Significance	ClinVar
7-141074318-C-T		not specified	Uncertain significance (Dec 21, 2023)
7-141074397-C-A		not specified	Uncertain significance (Dec 21, 2022)
7-141074398-C-T		not specified	Uncertain significance (Oct 25, 2022)
7-141074552-G-C		not specified	Uncertain significance (Apr 14, 2022)
7-141074678-C-T		not specified	Uncertain significance (Mar 27, 2023)
7-141212681-G-A		not specified	Uncertain significance (Mar 22, 2023)
7-141212691-G-C		not specified	Uncertain significance (May 11, 2022)
7-141437645-G-A		not specified	Likely benign (Dec 16, 2023)
7-141437691-T-C		not specified	Uncertain significance (Feb 22, 2023)
7-141470673-G-A		not specified	Uncertain significance (Dec 20, 2023)
7-141470737-C-T		not specified	Uncertain significance (Oct 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM178B	protein_coding	protein_coding	ENST00000565468	4	406149

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.955	0.0454	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.32	86	171	0.502	0.00000904	1893
Missense in Polyphen		18	57.274	0.31428		664
Synonymous	0.470	68	73.1	0.930	0.00000402	595
Loss of Function	3.23	1	14.1	0.0709	8.71e-7	136

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.588

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem178b

Gene ontology

• Cellular component: integral component of membrane