Gene Gene information from NCBI Gene database.
Entrez ID 4644
Gene name Myosin VA
Gene symbol MYO5A
Synonyms (NCBI Gene)
GS1MYH12MYO5MYR12
Chromosome 15
Chromosome location 15q21.2
Summary This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The p
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs143298463 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs147898420 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs764371254 G>A Pathogenic Stop gained, coding sequence variant
rs769021352 C>A,T Pathogenic Splice donor variant
rs1114167290 G>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
934
miRTarBase ID miRNA Experiments Reference
MIRT027083 hsa-miR-103a-3p Sequencing 20371350
MIRT028356 hsa-miR-32-5p Sequencing 20371350
MIRT031724 hsa-miR-16-5p Sequencing 20371350
MIRT035535 hsa-miR-145-5p Luciferase reporter assay 22895360
MIRT035535 hsa-miR-145-5p Luciferase reporter assay 22895360
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0000146 Function Microfilament motor activity IBA
GO:0000146 Function Microfilament motor activity NAS 10448864
GO:0000166 Function Nucleotide binding IEA
GO:0001726 Component Ruffle IDA 9852149
GO:0003723 Function RNA binding HDA 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
160777 7602 ENSG00000197535
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4I1
Protein name Unconventional myosin-Va (Dilute myosin heavy chain, non-muscle) (Myosin heavy chain 12) (Myosin-12) (Myoxin)
Protein function Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Can hydrolyze ATP in the presence of actin, which is essential for its function as a motor protein (PubMed:10448864). Involved
PDB 4D07 , 4J5L , 4LLI , 4LX1 , 4LX2 , 5JCY , 5JCZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00063 Myosin_head 71 751 Myosin head (motor domain) Domain
PF00612 IQ 767 787 IQ calmodulin-binding motif Motif
PF00612 IQ 790 810 IQ calmodulin-binding motif Motif
PF00612 IQ 815 835 IQ calmodulin-binding motif Motif
PF00612 IQ 838 858 IQ calmodulin-binding motif Motif
PF00612 IQ 863 883 IQ calmodulin-binding motif Motif
PF00612 IQ 886 906 IQ calmodulin-binding motif Motif
PF01843 DIL 1687 1790 DIL domain Family
Tissue specificity TISSUE SPECIFICITY: Detected in melanocytes.
Sequence
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELP
HLRNPDILVGENDLTALSYLHEPAVLHNLRVRFIDSKLIYTYCGIVLVAINPYEQLPIYG
EDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMR
TYLLEKSRVVFQAEEERNYHIFYQLCASAKLPEFKMLRLGNADNFNYTKQGGSPVIEGVD
DAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVN
QALHSAVKQHSFIGVLDIYGFETFEINSFEQFCINYANEKLQQQFNMHVFKLEQEEYMKE
QIPWTLIDFYDNQPCINLIESKLGILDLLDEECKMPKGTDDTWAQKLYNTHLNKCALFEK
PRLSNKAFIIQHFADKVEYQCEGFLEKNKDTVFEEQIKVLKSSKFKMLPELFQDDEKAIS
PTSATSSGRTPLTRTPAKPTKGRPGQMAKEHKKTVGHQFRNSLHLLMETLNATTPHYVRC
IKPNDFKFPFTFDEKRAVQQLRACGVLETIRISAAGFPSRWTYQEFFSRYRVLMKQKDVL
SDRKQTCKNVLEKLILDKDKYQFGKTKIFFR
AGQVAYLEKLRADKLRAACIRIQKTIRGW
LLRKKYL
RMRKAAITMQRYVRGYQARCYAKFLRRTKAATIIQKYWRMYVVRRRYKIRRAA
TIVLQSYLRGFLARNRYR
KILREHKAVIIQKRVRGWLARTHYKRSMHAIIYLQCCFRRMM
AKRELK
KLKIEARSVERYKKLHIGMENKIMQLQRKVDEQNKDYKCLVEKLTNLEGIYNSE
TEKLRSDLERLQLSEEEAKVATGRVLSLQEEIAKLRKDLEQTRSEKKCIEEHADRYKQET
EQLVSNLKEENTLLKQEKEALNHRIVQQAKEMTETMEKKLVEETKQLELDLNDERLRYQN
LLNEFSRLEERYDDLKEEMTLMVHVPKPGHKRTDSTHSSNESEYIFSSEIAEMEDIPSRT
EEPSEKKVPLDMSLFLKLQKRVTELEQEKQVMQDELDRKEEQVLRSKAKEEERPQIRGAE
LEYESLKRQELESENKKLKNELNELRKALSEKSAPEVTAPGAPAYRVLMEQLTSVSEELD
VRKEEVLILRSQLVSQKEAIQPKDDKNTMTDSTILLEDVQKMKDKGEIAQAYIGLKETNR
SSALDYHELNEDGELWLVYEGLKQANRLLESQLQSQKRSHENEAEALRGEIQSLKEENNR
QQQLLAQNLQLPPEARIEASLQHEITRLTNENLDLMEQLEKQDKTVRKLKKQLKVFAKKI
GELEVGQMENISPGQIIDEPIRPVNIPRKEKDFQGMLEYKKEDEQKLVKNLILELKPRGV
AVNLIPGLPAYILFMCVRHADYLNDDQKVRSLLTSTINSIKKVLKKRGDDFETVSFWLSN
TCRFLHCLKQYSGEEGFMKHNTSRQNEHCLTNFDLAEYRQVLSDLAIQIYQQLVRVLENI
LQPMIVSGMLEHETIQGVSGVKPTGLRKRTSSIADEGTYTLDSILRQLNSFHSVMCQHGM
DPELIKQVVKQMFYIIGAITLNNLLLRKDMCSWSKGMQIRYNVSQLEEWLRDKNLMNSGA
KETLEPLIQAAQLLQVKKKTDDDAEAICSMCNALTTAQIVKVLNLYTPVN
EFEERVSVSF
IRTIQMRLRDRKDSPQLLMDAKHIFPVTFPFNPSSLALETIQIPASLGLGFISRV
Sequence length 1855
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Motor proteins
Pathogenic Escherichia coli infection
  Regulation of actin dynamics for phagocytic cup formation
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
38
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebellar cortical atrophy Pathogenic rs1114167290 RCV000490925
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonic disorder Pathogenic rs1114167290 RCV000490925
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Pathogenic rs1114167290 RCV000490925
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Griscelli syndrome type 1 Likely pathogenic; Pathogenic rs2141084327, rs2141121140, rs2043479059, rs764371254, rs769021352 RCV001809215
RCV002248385
RCV002248386
RCV000015113
RCV000680043
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Conflicting classifications of pathogenicity; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acrocephalopolydactylous Dysplasia Acrocephalopolydactyly GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration HPO_DG
★☆☆☆☆
Found in Text Mining only
Albinism Albinism Pubtator 35488210 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30733278
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36424660 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 33864791 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Hypertrophic Hypertrophic cardiomyopathy Pubtator 33864791 Associate
★☆☆☆☆
Found in Text Mining only
Central Nervous System Diseases Central nervous system disease Pubtator 12058346 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar cortical atrophy Cerebellar cortical atrophy CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar Hypoplasia Cerebellar Hypoplasia HPO_DG
★☆☆☆☆
Found in Text Mining only