TMEM8B

transmembrane protein 8B, the group of TMEM8 family

Basic information

Region (hg38): 9:35814451-35865518

Previous symbols: [ "C9orf127", "LINC00950" ]

Links

ENSG00000137103 ∙ NCBI:51754 ∙ OMIM:616888 ∙ HGNC:21427 ∙ Uniprot:A6NDV4 ∙ 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 TMEM8B gene.

• not_specified (58 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM8B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001042590.4. 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			57	1		58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM8B	protein_coding	protein_coding	ENST00000377988	8	40397

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000280	0.929	125718	0	30	125748	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.91	210	303	0.692	0.0000192	3003
Missense in Polyphen		87	131.64	0.66088		1316
Synonymous	0.112	130	132	0.988	0.00000858	1032
Loss of Function	1.73	12	20.5	0.586	0.00000103	209

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000240	0.000239
Ashkenazi Jewish	0.000308	0.000298
East Asian	0.000114	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000152	0.000149
Middle Eastern	0.000114	0.000109
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a regulator of the EGFR pathway. Probable tumor suppressor which may function in cell growth, proliferation and adhesion. {ECO:0000269|PubMed:15498789, ECO:0000269|PubMed:15723283, ECO:0000269|PubMed:17270023, ECO:0000269|PubMed:17641538}.

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.777
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.82

Haploinsufficiency Scores

• pHI: 0.0616
• hipred: Y
• hipred_score: 0.700
• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0976

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem8b

Gene ontology

• Biological process: cell-matrix adhesion;regulation of mitotic cell cycle;regulation of growth
• Cellular component: nucleus;mitochondrion;endoplasmic reticulum;plasma membrane;cell surface;integral component of membrane
• Molecular function: protein binding