MTPN

myotrophin, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 7:135926759-135977359

Links

ENSG00000105887 ∙ NCBI:136319 ∙ OMIM:606484 ∙ HGNC:15667 ∙ Uniprot:P58546 ∙ 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 MTPN gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

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

Variants in MTPN

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

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

Position	Type	Phenotype	Significance	ClinVar
7-135927293-G-A		not specified	Likely benign (Jul 27, 2022)
7-135927333-C-T		not specified	Uncertain significance (Oct 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTPN	protein_coding	protein_coding	ENST00000393085	4	50593

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.818	0.178	124296	0	1	124297	0.00000402

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.68	25	62.3	0.401	0.00000289	764
Missense in Polyphen		2	16.387	0.12205		192
Synonymous	0.000142	24	24.0	1.00	0.00000112	232
Loss of Function	2.20	0	5.62	0.00	2.35e-7	76

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy. {ECO:0000250, ECO:0000269|PubMed:10329199, ECO:0000269|PubMed:16895918, ECO:0000269|PubMed:20625546}.
• Pathway: miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase (Consensus)

Recessive Scores

• pRec: 0.203

Intolerance Scores

• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.43

Haploinsufficiency Scores

• pHI: 0.740
• hipred: Y
• hipred_score: 0.593
• ghis: 0.565

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.601

Mouse Genome Informatics

• Gene name: Mtpn

Gene ontology

• Biological process: regulation of translation;catecholamine metabolic process;regulation of cell size;positive regulation of macromolecule biosynthetic process;positive regulation of cardiac muscle hypertrophy;regulation of striated muscle tissue development;cerebellar granule cell differentiation;neuron differentiation;positive regulation of cell growth;skeletal muscle tissue regeneration;positive regulation of NF-kappaB transcription factor activity;striated muscle cell differentiation;positive regulation of protein metabolic process;cellular response to mechanical stimulus;regulation of barbed-end actin filament capping
• Cellular component: nucleus;cytosol;F-actin capping protein complex;axon;perinuclear region of cytoplasm
• Molecular function: sequence-specific DNA binding