TMEM33

transmembrane protein 33

Basic information

Region (hg38): 4:41935129-41960803

Links

ENSG00000109133 ∙ NCBI:55161 ∙ OMIM:618515 ∙ HGNC:25541 ∙ Uniprot:P57088 ∙ 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 TMEM33 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM33 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in TMEM33

This is a list of pathogenic ClinVar variants found in the TMEM33 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-41935519-C-G		not specified	Uncertain significance (Apr 09, 2024)
4-41938608-A-G		not specified	Uncertain significance (May 15, 2024)
4-41938613-G-C		not specified	Uncertain significance (Jan 03, 2024)
4-41938637-G-A		not specified	Uncertain significance (Mar 17, 2023)
4-41938642-T-G		not specified	Uncertain significance (Jun 02, 2024)
4-41938656-A-G		not specified	Uncertain significance (Mar 16, 2022)
4-41938660-T-C		not specified	Uncertain significance (Jun 17, 2022)
4-41938690-T-C		not specified	Uncertain significance (Aug 16, 2022)
4-41939299-G-A		not specified	Uncertain significance (May 08, 2024)
4-41949349-C-T		not specified	Uncertain significance (Sep 01, 2021)
4-41949361-C-T		not specified	Uncertain significance (Mar 19, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM33	protein_coding	protein_coding	ENST00000504986	7	25453

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00529	0.972	125730	0	16	125746	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.788	107	133	0.807	0.00000654	1601
Missense in Polyphen		38	53.701	0.70762		630
Synonymous	0.0357	50	50.3	0.994	0.00000250	487
Loss of Function	1.99	6	14.1	0.427	8.24e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000120
Ashkenazi Jewish	0.000398	0.000397
East Asian	0.00	0.00
Finnish	0.0000926	0.0000924
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000684	0.0000653
Other	0.000176	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a regulator of the tubular endoplasmic reticulum (ER) network. Suppresses the RTN3/4-induced formation of the ER tubules (PubMed:25612671). Positively regulates PERK-mediated and IRE1-mediated unfolded protein response signaling (PubMed:26268696). {ECO:0000269|PubMed:25612671, ECO:0000269|PubMed:26268696}.

Recessive Scores

• pRec: 0.142

Intolerance Scores

• loftool: 0.307
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.229
• hipred: Y
• hipred_score: 0.518
• ghis: 0.644

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem33

Gene ontology

• Biological process: response to endoplasmic reticulum stress;regulation of endoplasmic reticulum tubular network organization;positive regulation of IRE1-mediated unfolded protein response;positive regulation of PERK-mediated unfolded protein response
• Cellular component: nuclear envelope;nuclear pore;endoplasmic reticulum;endoplasmic reticulum membrane;integral component of endoplasmic reticulum membrane;melanosome
• Molecular function: protein binding