TMEM236

transmembrane protein 236

Basic information

Region (hg38): 10:17752200-17800868

Previous symbols: [ "FAM23B", "FAM23A" ]

Links

ENSG00000148483 ∙ NCBI:653567 ∙ ∙ HGNC:23473 ∙ Uniprot:Q5W0B7 ∙ 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 TMEM236 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM236 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			3	1	1	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	3	1	1

Variants in TMEM236

This is a list of pathogenic ClinVar variants found in the TMEM236 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-17771328-T-C		not specified	Uncertain significance (May 09, 2023)
10-17771335-T-G		not specified	Uncertain significance (Oct 24, 2023)
10-17771379-G-A		not specified	Uncertain significance (Oct 06, 2021)
10-17771381-G-C			Likely benign (Nov 01, 2023)
10-17796115-G-A		not specified	Benign (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM236	protein_coding	protein_coding	ENST00000377495	4	48617

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0172	0.497	122575	0	3	122578	0.0000122

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.257	10	12.6	0.796	5.33e-7	2256
Missense in Polyphen		7	6.3566	1.1012		831
Synonymous	0.116	4	4.31	0.929	1.81e-7	738
Loss of Function	-0.488	2	1.38	1.45	5.85e-8	146

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)	0.0000183	0.0000183
Middle Eastern	0.00	0.00
South Asian	0.0000332	0.0000332
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.210
• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem236

Gene ontology

• Cellular component: integral component of membrane