DMTN

dematin actin binding protein

Basic information

Region (hg38): 8:22048995-22082527

Previous symbols: [ "EPB49" ]

Links

ENSG00000158856 ∙ NCBI:2039 ∙ OMIM:125305 ∙ HGNC:3382 ∙ Uniprot:Q08495 ∙ 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 DMTN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMTN 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			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in DMTN

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

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

Position	Type	Phenotype	Significance	ClinVar
8-22067136-C-T		not specified	Uncertain significance (Jan 02, 2024)
8-22067145-C-T		not specified	Uncertain significance (Jan 16, 2024)
8-22067540-A-T		not specified	Uncertain significance (Dec 27, 2022)
8-22069046-C-A		not specified	Uncertain significance (Nov 26, 2024)
8-22069047-C-A		not specified	Uncertain significance (Jul 20, 2021)
8-22069417-A-T			Uncertain significance (Jul 01, 2022)
8-22069935-G-A		not specified	Uncertain significance (Feb 12, 2024)
8-22070187-G-A		not specified	Likely benign (Jun 26, 2023)
8-22070291-C-T		not specified	Likely benign (Aug 12, 2024)
8-22072343-C-T		not specified	Uncertain significance (Dec 12, 2023)
8-22072355-C-T		not specified	Uncertain significance (Aug 15, 2024)
8-22072394-G-A		not specified	Uncertain significance (Jun 11, 2021)
8-22072428-G-T		not specified	Uncertain significance (Feb 12, 2024)
8-22073753-G-A		not specified	Uncertain significance (Aug 12, 2024)
8-22073788-T-C		not specified	Uncertain significance (May 14, 2024)
8-22073803-G-A		not specified	Uncertain significance (Nov 09, 2024)
8-22080240-G-C		not specified	Uncertain significance (May 05, 2023)
8-22080618-G-A		not specified	Uncertain significance (Dec 18, 2023)
8-22080822-G-C		not specified	Uncertain significance (Sep 11, 2024)
8-22080822-G-T		not specified	Uncertain significance (Oct 29, 2021)
8-22081184-G-A		not specified	Uncertain significance (May 23, 2023)
8-22081186-G-A		not specified	Uncertain significance (Feb 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DMTN	protein_coding	protein_coding	ENST00000523266	15	33533

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.901	0.0992	125733	0	12	125745	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	187	242	0.773	0.0000143	2581
Missense in Polyphen		44	76.159	0.57774		798
Synonymous	-0.805	106	96.0	1.10	0.00000569	804
Loss of Function	3.90	4	25.1	0.159	0.00000124	297

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000120
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000457	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.0000682	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Membrane-cytoskeleton-associated protein with F-actin- binding activity that induces F-actin bundles formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1, and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties. Plays also a role as a modulator of actin dynamics in fibroblasts; acts as a negative regulator of the RhoA activation pathway. In platelets, functions as a regulator of internal calcium mobilization across the dense tubular system that affects platelet granule secretion pathways and aggregation. Also required for the formation of a diverse set of cell protrusions, such as filopodia and lamellipodia, necessary for platelet cell spreading, motility and migration. Acts as a tumor suppressor and inhibits malignant cell transformation. {ECO:0000269|PubMed:10565303, ECO:0000269|PubMed:11856323, ECO:0000269|PubMed:18347014, ECO:0000269|PubMed:19241372, ECO:0000269|PubMed:22927433, ECO:0000269|PubMed:23355471}.
• Pathway: Transport of small molecules;Miscellaneous transport and binding events (Consensus)

Recessive Scores

• pRec: 0.242

Intolerance Scores

• rvis_EVS: -0.36
• rvis_percentile_EVS: 29.16

Haploinsufficiency Scores

• pHI: 0.143
• hipred: Y
• hipred_score: 0.685
• ghis: 0.519

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dmtn
• Phenotype: hematopoietic system phenotype

Gene ontology

• Biological process: cytoskeleton organization;regulation of cell shape;regulation of lamellipodium assembly;positive regulation of fibroblast migration;negative regulation of peptidyl-threonine phosphorylation;negative regulation of cell-substrate adhesion;lamellipodium assembly;actin cytoskeleton organization;positive regulation of blood coagulation;regulation of actin cytoskeleton organization;negative regulation of peptidyl-serine phosphorylation;calcium-mediated signaling using intracellular calcium source;calcium-mediated signaling using extracellular calcium source;erythrocyte development;negative regulation of peptidyl-tyrosine phosphorylation;actin filament bundle assembly;regulation of filopodium assembly;actin filament capping;negative regulation of focal adhesion assembly;transmembrane transport;protein-containing complex assembly;protein secretion by platelet;cellular response to calcium ion;cellular response to cAMP;positive regulation of wound healing;negative regulation of protein targeting to membrane;actin filament reorganization;negative regulation of substrate adhesion-dependent cell spreading;positive regulation of substrate adhesion-dependent cell spreading;positive regulation of platelet aggregation;positive regulation of integrin-mediated signaling pathway
• Cellular component: cytosol;actin filament;plasma membrane;endomembrane system;postsynaptic density;spectrin-associated cytoskeleton;actin cytoskeleton;cortical cytoskeleton;platelet dense tubular network membrane;cell projection membrane;cytoplasmic vesicle;perinuclear region of cytoplasm
• Molecular function: actin binding;signaling receptor binding;protein binding;spectrin binding;protein self-association;actin filament binding