Human Gene MYO15A (ENST00000647165.2_7) from GENCODE V47lift37
  Description: myosin XVA (from RefSeq NM_016239.4)
Gencode Transcript: ENST00000647165.2_7
Gencode Gene: ENSG00000091536.20_15
Transcript (Including UTRs)
   Position: hg19 chr17:18,012,070-18,083,114 Size: 71,045 Total Exon Count: 66 Strand: +
Coding Region
   Position: hg19 chr17:18,022,115-18,082,184 Size: 60,070 Coding Exon Count: 65 

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Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:18,012,070-18,083,114)mRNA (may differ from genome)Protein (3530 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYO15_HUMAN
DESCRIPTION: RecName: Full=Unconventional myosin-XV; AltName: Full=Unconventional myosin-15;
FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles (By similarity).
SUBUNIT: Interacts with the third PDZ domain of WHRN which is necessary for localization of WHRN to stereocilium tips (By similarity). Interacts with FASLG.
SUBCELLULAR LOCATION: Cell projection, stereocilium (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Localizes to stereocilium tips in cochlear and vestibular hair cells (By similarity).
TISSUE SPECIFICITY: Highly expressed in pituitary. Also expressed at lower levels in adult brain, kidney, liver, lung, pancreas, placenta and skeletal muscle. Not expressed in brain. In the pituitary, highly expressed in anterior gland cells.
DISEASE: Defects in MYO15A are the cause of deafness autosomal recessive type 3 (DFNB3) [MIM:600316]. DFNB3 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
SIMILARITY: Contains 1 FERM domain.
SIMILARITY: Contains 3 IQ domains.
SIMILARITY: Contains 1 myosin head-like domain.
SIMILARITY: Contains 2 MyTH4 domains.
SIMILARITY: Contains 1 SH3 domain.
CAUTION: Represents a unconventional myosin. This protein should not be confused with the conventional myosin-15 (MYH15).

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: MYO15A
Diseases sorted by gene-association score: deafness, autosomal recessive 3* (1229), nonsyndromic deafness* (247), dfnb 3 nonsyndromic hearing loss and deafness* (100), nonsyndromic hearing loss and deafness* (89), autosomal recessive non-syndromic sensorineural deafness type dfnb* (66), autosomal recessive nonsyndromic deafness 3 (32), deafness, autosomal recessive 2 (16), smith-magenis syndrome (12), deafness, autosomal dominant 11 (7), deafness, autosomal dominant 22 (7), hodgkin's lymphoma, nodular sclerosis (7), deafness, autosomal recessive 83 (7), deafness, autosomal recessive 85 (7), deafness, autosomal recessive 37 (7), deafness, autosomal dominant 17 (6), deafness, autosomal recessive 30 (6), auditory system disease (6), autosomal recessive nonsyndromic deafness (6), deafness, autosomal dominant 48 (6), sensorineural hearing loss (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -124.90288-0.434 Picture PostScript Text
3' UTR -304.50930-0.327 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019749 - Band_41_domain
IPR019748 - FERM_central
IPR000299 - FERM_domain
IPR000048 - IQ_motif_EF-hand-BS
IPR001609 - Myosin_head_motor_dom
IPR000857 - MyTH4_dom
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF00063 - Myosin head (motor domain)
PF00612 - IQ calmodulin-binding motif
PF00784 - MyTH4 domain
PF07653 - Variant SH3 domain

SCOP Domains:
47031 - Second domain of FERM
50022 - ISP domain
50044 - SH3-domain
50729 - PH domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

ModBase Predicted Comparative 3D Structure on Q9UKN7
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0003779 actin binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008017 microtubule binding

Biological Process:
GO:0007018 microtubule-based movement
GO:0007605 sensory perception of sound
GO:0007626 locomotory behavior
GO:0042472 inner ear morphogenesis

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0016459 myosin complex
GO:0032420 stereocilium
GO:0032421 stereocilium bundle
GO:0042995 cell projection
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AF144094 - Homo sapiens unconventional myosin-15 mRNA, complete cds.
JD482791 - Sequence 463815 from Patent EP1572962.
AB209423 - Homo sapiens mRNA for myosin XV variant protein.
AK297179 - Homo sapiens cDNA FLJ55985 complete cds, highly similar to Myosin-15.
AK294036 - Homo sapiens cDNA FLJ59674 complete cds, highly similar to Myosin-15.
AK300529 - Homo sapiens cDNA FLJ51961 complete cds, highly similar to Myosin-15.
AK297641 - Homo sapiens cDNA FLJ50584 complete cds, highly similar to Myosin-15.
AL713794 - Homo sapiens mRNA; cDNA DKFZp434O1119 (from clone DKFZp434O1119).
AK298825 - Homo sapiens cDNA FLJ50392 complete cds, highly similar to Myosin-15.
BX538062 - Homo sapiens mRNA; cDNA DKFZp686N18198 (from clone DKFZp686N18198).
AK310232 - Homo sapiens cDNA, FLJ17274.
JD071587 - Sequence 52611 from Patent EP1572962.
JD304776 - Sequence 285800 from Patent EP1572962.
JD206706 - Sequence 187730 from Patent EP1572962.
JD403228 - Sequence 384252 from Patent EP1572962.
JD236854 - Sequence 217878 from Patent EP1572962.
JD206765 - Sequence 187789 from Patent EP1572962.
JD392757 - Sequence 373781 from Patent EP1572962.
JD348538 - Sequence 329562 from Patent EP1572962.
JD435675 - Sequence 416699 from Patent EP1572962.
JD151523 - Sequence 132547 from Patent EP1572962.
JD229289 - Sequence 210313 from Patent EP1572962.
JD433758 - Sequence 414782 from Patent EP1572962.
JD370630 - Sequence 351654 from Patent EP1572962.
JD160597 - Sequence 141621 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DFC7, ENST00000647165.1, MYO15, MYO15_HUMAN, NM_016239, Q9UKN7, uc328nfv.1, uc328nfv.2
UCSC ID: ENST00000647165.2_7
RefSeq Accession: NM_016239.4
Protein: Q9UKN7 (aka MYO15_HUMAN or MY15_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MYO15A:
deafness-overview (Genetic Hearing Loss Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.