TSPAN33

tetraspanin 33, the group of Tetraspanins

Basic information

Region (hg38): 7:129144707-129169699

Links

ENSG00000158457 ∙ NCBI:340348 ∙ OMIM:610120 ∙ HGNC:28743 ∙ Uniprot:Q86UF1 ∙ 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 TSPAN33 gene.

• not_specified (19 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSPAN33 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178562.5. 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				1		1
missense			19			19
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	19	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TSPAN33	protein_coding	protein_coding	ENST00000289407	8	23960

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000701	0.919	125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.36	107	155	0.691	0.00000812	1841
Missense in Polyphen		35	49.13	0.7124		627
Synonymous	0.990	51	60.8	0.839	0.00000303	557
Loss of Function	1.60	9	15.9	0.567	8.92e-7	165

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays an important role in normal erythropoiesis (By similarity). It has a role in the differentiation of erythroid progenitors (By similarity). Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10 (PubMed:26686862). Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity (PubMed:26686862). {ECO:0000250|UniProtKB:Q8R3S2, ECO:0000269|PubMed:26686862}.

Recessive Scores

• pRec: 0.118

Intolerance Scores

• rvis_EVS: -0.36
• rvis_percentile_EVS: 28.63

Haploinsufficiency Scores

• pHI: 0.332
• hipred: N
• hipred_score: 0.449
• ghis: 0.631

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.450

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tspan33
• Phenotype: immune system phenotype; hematopoietic system phenotype; neoplasm

Gene ontology

• Biological process: cell surface receptor signaling pathway;cellular protein metabolic process;protein maturation;protein localization to plasma membrane
• Cellular component: endoplasmic reticulum lumen;plasma membrane;integral component of plasma membrane;cell surface;tetraspanin-enriched microdomain
• Molecular function: enzyme binding