MYO15A myosin XVA [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYO15Aprovided by HGNC
Official Full Name: myosin XVAprovided by HGNC
Primary source: HGNC:HGNC:7594
See related: Ensembl:ENSG00000091536 MIM:602666; AllianceGenome:HGNC:7594
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DFNB3; MYO15
Summary: This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
Expression: Biased expression in testis (RPKM 1.5), ovary (RPKM 0.3) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p11.2

Exon count:: 67

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (18108756..18179800)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (18055569..18126619)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (18012070..18083114)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
Title: Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
Title: Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.
Title: Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.
Exosomal microRNA-1 and MYO15A as a target for therapy and diagnosis in renal cell carcinoma.
Title: Exosomal microRNA-1 and MYO15A as a target for therapy and diagnosis in renal cell carcinoma.
Hearing Features and Cochlear Implantation Outcomes in Patients With Pathogenic MYO15A Variants: a Multicenter Observational Study.
Title: Hearing Features and Cochlear Implantation Outcomes in Patients With Pathogenic MYO15A Variants: a Multicenter Observational Study.
Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.
Title: Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.
Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees.
Title: Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees.
Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant.
Title: Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant.
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Title: A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
Title: PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.

Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive nonsyndromic hearing loss 3 MedGen: C1838263 OMIM: 600316 GeneReviews: Genetic Hearing Loss Overview	Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-13499 (e-PCR)
- UniSTS:18696

DRG2__4773 (e-PCR)
- UniSTS:462879

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

RH65958 (e-PCR)
- UniSTS:55607

D1S1423 (e-PCR)
- UniSTS:149619

RH78569 (e-PCR)
- UniSTS:36744

D11S3114 (e-PCR)
- UniSTS:152207

ha2101 (e-PCR)
- UniSTS:515486

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in response to light stimulus	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in actin-based cell projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin complex	IEA Inferred from Electronic Annotation more info
located_in stereocilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: unconventional myosin-XV

Names: myosin-XV; unconventional myosin-15

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011634.2 RefSeqGene

Range

5051..76095

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_016239.4 → NP_057323.3 unconventional myosin-XV

See identical proteins and their annotated locations for NP_057323.3

Status: REVIEWED

Source sequence(s)

AC087164, AF144094

Consensus CDS

CCDS42271.1

UniProtKB/Swiss-Prot

B4DFC7, Q9UKN7

Related

ENSP00000495481.1, ENST00000647165.2

Conserved Domains (7) summary

cd12067
Location:2871 → 2950

SH3_MYO15A; Src Homology 3 domain of Myosin XVa

smart00139
Location:3050 → 3204

MyTH4; Domain in Myosin and Kinesin Tails

smart00242
Location:1217 → 1899

MYSc; Myosin. Large ATPases

smart00295
Location:3214 → 3419

B41; Band 4.1 homologues

cd13201
Location:3415 → 3516

FERM_C_MyoXV; FERM domain C-lobe of Myosin XV (MyoXV/Myo15)

cd14473
Location:3309 → 3411

FERM_B-lobe; FERM domain B-lobe

cd01387
Location:1236 → 1887

MYSc_Myo15; class XV mammal-like myosin, motor domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

18108756..18179800

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017024715.3 → XP_016880204.1 unconventional myosin-XV isoform X5
XM_017024714.3 → XP_016880203.1 unconventional myosin-XV isoform X1
XM_011523918.3 → XP_011522220.1 unconventional myosin-XV isoform X2

Conserved Domains (3) summary

smart00242
Location:1217 → 1897

MYSc; Myosin. Large ATPases

cd01387
Location:1236 → 1885

MYSc_Myo15; class XV mammal-like myosin, motor domain

cl02480
Location:2045 → 2115

MyTH4; MyTH4 domain
XM_024450781.2 → XP_024306549.1 unconventional myosin-XV isoform X4

Conserved Domains (3) summary

smart00015
Location:1923 → 1944

IQ; Calmodulin-binding motif

PHA03247
Location:723 → 1144

PHA03247; large tegument protein UL36; Provisional

cd01387
Location:1236 → 1885

MYSc_Myo15; class XV mammal-like myosin, motor domain
XM_024450780.2 → XP_024306548.1 unconventional myosin-XV isoform X3

Conserved Domains (3) summary

smart00015
Location:1923 → 1944

IQ; Calmodulin-binding motif

cd01387
Location:1236 → 1885

MYSc_Myo15; class XV mammal-like myosin, motor domain

cl26464
Location:723 → 1144

Atrophin-1; Atrophin-1 family