TSPAN14

tetraspanin 14, the group of Tetraspanins

Basic information

Region (hg38): 10:80454265-80533124

Previous symbols: [ "TM4SF14" ]

Links

ENSG00000108219NCBI:81619HGNC:23303Uniprot:Q8NG11AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TSPAN14 gene.

  • not_specified (23 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSPAN14 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000030927.4. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
22
clinvar
1
clinvar
23
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 22 1 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TSPAN14protein_codingprotein_codingENST00000429989 878958
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9790.0209125745031257480.0000119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.21901710.5250.00001091772
Missense in Polyphen2369.8850.32911759
Synonymous-0.06667574.31.010.00000523509
Loss of Function3.50116.20.06167.78e-7173

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00002640.0000264
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10 (PubMed:26668317, PubMed:23035126, PubMed:26686862). Negatively regulates ADAM10- mediated cleavage of GP6 (By similarity). Promotes ADAM10-mediated cleavage of CDH5 (By similarity). {ECO:0000250|UniProtKB:Q8QZY6, ECO:0000269|PubMed:23035126, ECO:0000269|PubMed:26668317, ECO:0000269|PubMed:26686862}.;
Pathway
Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

pRec
0.116

Intolerance Scores

loftool
0.162
rvis_EVS
-0.34
rvis_percentile_EVS
30.07

Haploinsufficiency Scores

pHI
0.161
hipred
Y
hipred_score
0.728
ghis
0.614

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.415

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tspan14
Phenotype

Gene ontology

Biological process
cell surface receptor signaling pathway;neutrophil degranulation;cellular protein metabolic process;positive regulation of Notch signaling pathway;protein maturation;protein localization to plasma membrane
Cellular component
endoplasmic reticulum lumen;plasma membrane;integral component of plasma membrane;cell surface;specific granule membrane;tertiary granule membrane;tetraspanin-enriched microdomain
Molecular function
enzyme binding