TAGLN2

transgelin 2

Basic information

Region (hg38): 1:159918107-159925507

Links

ENSG00000158710 ∙ NCBI:8407 ∙ OMIM:604634 ∙ HGNC:11554 ∙ Uniprot:P37802 ∙ 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 TAGLN2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAGLN2 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in TAGLN2

This is a list of pathogenic ClinVar variants found in the TAGLN2 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-159918849-G-A		not specified	Uncertain significance (Jul 12, 2022)
1-159918859-T-C		not specified	Uncertain significance (Oct 03, 2022)
1-159918924-G-T		not specified	Uncertain significance (Mar 28, 2023)
1-159919352-C-T		not specified	Uncertain significance (Jan 20, 2023)
1-159919671-G-T		not specified	Uncertain significance (Dec 08, 2023)
1-159919712-G-A		not specified	Uncertain significance (Jul 19, 2022)
1-159919747-A-C		not specified	Uncertain significance (Apr 26, 2024)
1-159919753-T-C		not specified	Uncertain significance (Mar 05, 2024)
1-159919761-C-T		not specified	Uncertain significance (Mar 01, 2023)
1-159919763-T-C		not specified	Uncertain significance (Aug 15, 2023)
1-159920487-T-C		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAGLN2	protein_coding	protein_coding	ENST00000368097	4	7626

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00935	0.945	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.711	100	122	0.819	0.00000772	1310
Missense in Polyphen		20	31.837	0.62821		395
Synonymous	0.946	39	47.3	0.825	0.00000280	383
Loss of Function	1.73	5	11.3	0.444	6.69e-7	105

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000528	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;EGFR1;Hemostasis (Consensus)

Intolerance Scores

• loftool: 0.434
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.276
• hipred: N
• hipred_score: 0.397
• ghis: 0.584

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.993

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tagln2
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: platelet degranulation;epithelial cell differentiation
• Cellular component: extracellular region;cytosol;vesicle;extracellular exosome
• Molecular function: protein binding;cadherin binding