TMEM212

transmembrane protein 212

Basic information

Region (hg38): 3:171843349-171938715

Links

ENSG00000186329 ∙ NCBI:389177 ∙ ∙ HGNC:34295 ∙ Uniprot:A6NML5 ∙ 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 TMEM212 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM212 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			14	1		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	0

Variants in TMEM212

This is a list of pathogenic ClinVar variants found in the TMEM212 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-171843390-G-A		not specified	Uncertain significance (Oct 17, 2023)
3-171843411-C-T		not specified	Likely benign (Apr 22, 2022)
3-171843412-G-A		not specified	Uncertain significance (Dec 19, 2023)
3-171843483-A-G		not specified	Uncertain significance (Sep 20, 2023)
3-171843511-G-T		not specified	Uncertain significance (Dec 06, 2022)
3-171843533-T-G		not specified	Uncertain significance (Oct 04, 2024)
3-171853554-C-G		not specified	Uncertain significance (Sep 06, 2022)
3-171853555-T-G		not specified	Uncertain significance (Sep 06, 2022)
3-171853560-A-T		not specified	Uncertain significance (May 03, 2023)
3-171853615-C-T		not specified	Uncertain significance (Sep 14, 2023)
3-171853650-A-T		not specified	Uncertain significance (Mar 22, 2023)
3-171853710-T-G		not specified	Uncertain significance (Apr 20, 2023)
3-171853718-C-A		not specified	Uncertain significance (Dec 04, 2024)
3-171853731-G-A		not specified	Uncertain significance (Oct 06, 2023)
3-171853743-C-G		not specified	Uncertain significance (Feb 05, 2024)
3-171853763-C-G		not specified	Uncertain significance (May 26, 2023)
3-171853768-G-T		not specified	Uncertain significance (Apr 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM212	protein_coding	protein_coding	ENST00000334567	4	95367

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.83e-8	0.0716	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.04	65	93.2	0.698	0.00000421	1228
Missense in Polyphen		26	32.531	0.79923		476
Synonymous	1.68	23	35.8	0.642	0.00000163	409
Loss of Function	-0.461	11	9.47	1.16	5.45e-7	109

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

Intolerance Scores

• rvis_EVS: 0.1
• rvis_percentile_EVS: 60.96

Haploinsufficiency Scores

• ghis: 0.471

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.741

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem212

Gene ontology

• Cellular component: integral component of membrane