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.

not_specified (76 variants)
not_provided (5 variants)

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. These statistics are base on transcript: NM_000002356.7. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			74 clinvar	1 clinvar	2 clinvar	77
nonsense						0
start loss						0
frameshift		1 clinvar				1
splice donor/acceptor (+/-2bp)						0
Total	0	1	74	3	2

Loading clinvar variants...

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
ghis

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