MARCKS

myristoylated alanine rich protein kinase C substrate

Basic information

Region (hg38): 6:113857345-113863475

Previous symbols: [ "MACS" ]

Links

ENSG00000277443 ∙ NCBI:4082 ∙ OMIM:177061 ∙ HGNC:6759 ∙ Uniprot:P29966 ∙ 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 MARCKS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MARCKS 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				2		2
missense			36		2	38
nonsense						0
start loss						0
frameshift		1				1
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	1	36	2	3

Variants in MARCKS

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

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

Position	Type	Phenotype	Significance	ClinVar
6-113857770-G-A		not specified	Uncertain significance (May 02, 2024)
6-113857821-T-A		not specified	Uncertain significance (Jan 10, 2022)
6-113859783-A-C		not specified	Uncertain significance (Jun 18, 2021)
6-113859794-C-T		not specified	Uncertain significance (Jul 11, 2023)
6-113859819-C-T		not specified	Uncertain significance (Jan 03, 2024)
6-113859836-G-A		not specified	Uncertain significance (Jan 23, 2024)
6-113859842-G-A		not specified	Uncertain significance (Feb 06, 2023)
6-113859849-C-T		not specified	Uncertain significance (Aug 17, 2022)
6-113859851-G-C		not specified	Uncertain significance (May 18, 2023)
6-113859852-C-T		not specified	Uncertain significance (May 18, 2023)
6-113859858-C-T		not specified	Uncertain significance (May 06, 2024)
6-113859879-C-A		not specified	Uncertain significance (Sep 22, 2023)
6-113859923-G-A		not specified	Uncertain significance (May 29, 2024)
6-113859925-G-T		not specified	Uncertain significance (Oct 10, 2023)
6-113859926-C-G		not specified	Uncertain significance (Jan 29, 2024)
6-113859927-C-G		not specified	Uncertain significance (Jun 22, 2021)
6-113859936-C-T		not specified	Uncertain significance (Oct 12, 2021)
6-113860005-C-A		not specified	Uncertain significance (Jan 26, 2022)
6-113860008-C-T		not specified	Uncertain significance (Jan 26, 2022)
6-113860030-C-T			Likely benign (Feb 12, 2018)
6-113860122-G-T		not specified	Uncertain significance (Sep 29, 2023)
6-113860125-G-GTGAGGC			Benign (Aug 09, 2018)
6-113860131-C-T		not specified	Uncertain significance (Apr 26, 2023)
6-113860134-A-G		not specified	Uncertain significance (Dec 20, 2022)
6-113860155-G-A		not specified	Uncertain significance (Aug 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: MARCKS is the most prominent cellular substrate for protein kinase C. This protein binds calmodulin, actin, and synapsin. MARCKS is a filamentous (F) actin cross-linking protein.
• Pathway: Fc gamma R-mediated phagocytosis - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;effects of calcineurin in keratinocyte differentiation;Metabolism;Acetylcholine regulates insulin secretion;Regulation of insulin secretion;Integration of energy metabolism (Consensus)

Recessive Scores

• pRec: 0.353

Haploinsufficiency Scores

• pHI: 0.572
• hipred: N
• hipred_score: 0.423

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.553

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Marcks
• Phenotype: craniofacial phenotype; growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype

Zebrafish Information Network

• Gene name: marcksa
• Affected structure: skeletal muscle cell
• Phenotype tag: abnormal
• Phenotype quality: curved

Gene ontology

• Biological process: actin filament bundle assembly;protein homooligomerization;actin crosslink formation
• Cellular component: centrosome;plasma membrane;focal adhesion;cell cortex;actin cytoskeleton;actin filament bundle;germinal vesicle;extracellular exosome
• Molecular function: protein kinase C binding;calmodulin binding;identical protein binding;actin filament binding