Human Gene MYH14 (ENST00000642316.2_5) from GENCODE V47lift37
  Description: myosin heavy chain 14, transcript variant 3 (from RefSeq NM_001145809.2)
Gencode Transcript: ENST00000642316.2_5
Gencode Gene: ENSG00000105357.20_20
Transcript (Including UTRs)
   Position: hg19 chr19:50,706,879-50,813,797 Size: 106,919 Total Exon Count: 43 Strand: +
Coding Region
   Position: hg19 chr19:50,713,623-50,813,047 Size: 99,425 Coding Exon Count: 42 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:50,706,879-50,813,797)mRNA (may differ from genome)Protein (2036 aa)
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-  Comments and Description Text from UniProtKB
  ID: MYH14_HUMAN
DESCRIPTION: RecName: Full=Myosin-14; AltName: Full=Myosin heavy chain 14; AltName: Full=Myosin heavy chain, non-muscle IIc; AltName: Full=Non-muscle myosin heavy chain IIc; Short=NMHC II-C;
FUNCTION: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping (By similarity).
SUBUNIT: Myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2) (By similarity).
TISSUE SPECIFICITY: High levels of expression are found in small intestine, colon and skeletal muscle. Expression is low in organs composed mainly of smooth muscle, such as aorta, uterus and urinary bladder. No detectable expression is found in thymus, spleen, placenta and lymphocytes.
DOMAIN: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils (By similarity).
DISEASE: Defects in MYH14 are the cause of deafness autosomal dominant type 4A (DFNA4A) [MIM:600652]. 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.
DISEASE: Defects in MYH14 are the cause of peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369]. PNMHH is a complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first affects anterior leg muscles and later posterior leg muscles.
SIMILARITY: Contains 1 IQ domain.
SIMILARITY: Contains 1 myosin head-like domain.
SEQUENCE CAUTION: Sequence=AAO39147.1; Type=Frameshift; Positions=1017, 1057; Sequence=AAP34449.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAP34449.1; Type=Frameshift; Positions=1016, 1057, 1490, 1755; Sequence=BAB14735.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BG468611; Type=Erroneous termination; Positions=403; Note=Translated as Leu;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MYH14
Diseases sorted by gene-association score: peripheral neuropathy, myopathy, hoarseness, and hearing loss* (1641), deafness, autosomal dominant 4a* (1230), autosomal dominant non-syndromic sensorineural deafness type dfna* (132), dfna 4 nonsyndromic hearing loss and deafness* (100), deafness, autosomal dominant 7 (12), deafness, autosomal dominant 21 (12), autosomal dominant nonsyndromic deafness 6 (11), deafness, autosomal dominant 4b (11), deafness, autosomal dominant 16 (10), deafness, autosomal dominant 48 (8), deafness, autosomal dominant 17 (8), deafness, autosomal recessive 30 (8), deafness, autosomal dominant 22 (8), deafness, autosomal dominant 10 (8), deafness, autosomal recessive 37 (7), autosomal dominant nonsyndromic deafness 20 (7), autosomal dominant nonsyndromic deafness (6), autosomal recessive nonsyndromic deafness 3 (5), myopathy (3), nonsyndromic deafness (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.4053-0.328 Picture PostScript Text
3' UTR -238.50750-0.318 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
IPR000048 - IQ_motif_EF-hand-BS
IPR001609 - Myosin_head_motor_dom
IPR004009 - Myosin_N
IPR002928 - Myosin_tail

Pfam Domains:
PF00063 - Myosin head (motor domain)
PF00612 - IQ calmodulin-binding motif
PF01576 - Myosin tail
PF02736 - Myosin N-terminal SH3-like domain

SCOP Domains:
50084 - Myosin S1 fragment, N-terminal domain
52540 - P-loop containing nucleoside triphosphate hydrolases
90257 - Myosin rod fragments

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2YCU - X-ray


ModBase Predicted Comparative 3D Structure on Q7Z406
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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    
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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
GO:0016887 ATPase activity
GO:0051015 actin filament binding
GO:0030898 actin-dependent ATPase activity

Biological Process:
GO:0003009 skeletal muscle contraction
GO:0007018 microtubule-based movement
GO:0007519 skeletal muscle tissue development
GO:0007605 sensory perception of sound
GO:0008360 regulation of cell shape
GO:0019228 neuronal action potential
GO:0031032 actomyosin structure organization
GO:0070584 mitochondrion morphogenesis
GO:0071625 vocalization behavior

Cellular Component:
GO:0005829 cytosol
GO:0016020 membrane
GO:0016459 myosin complex
GO:0016460 myosin II complex
GO:0042641 actomyosin
GO:0070062 extracellular exosome
GO:0097513 myosin II filament


-  Descriptions from all associated GenBank mRNAs
  AK125082 - Homo sapiens cDNA FLJ43092 fis, clone COLON2002520, highly similar to Myosin-14.
BC129803 - Homo sapiens myosin, heavy chain 14, mRNA (cDNA clone IMAGE:40074924), complete cds.
AY165122 - Homo sapiens myosin heavy chain (MYH14) mRNA, complete cds.
AK307783 - Homo sapiens cDNA, FLJ97731.
AB290169 - Homo sapiens mRNA for MYH14/KIAA2034 variant protein, complete cds.
AB384662 - Synthetic construct DNA, clone: pF1KA2034, Homo sapiens MYH14 gene for myosin-14, complete cds, without stop codon, in Flexi system.
BC018933 - Homo sapiens myosin, heavy chain 14, mRNA (cDNA clone IMAGE:4111094), partial cds.
JD408071 - Sequence 389095 from Patent EP1572962.
JD170403 - Sequence 151427 from Patent EP1572962.
JD477935 - Sequence 458959 from Patent EP1572962.
JD460802 - Sequence 441826 from Patent EP1572962.
JD138752 - Sequence 119776 from Patent EP1572962.
JD340140 - Sequence 321164 from Patent EP1572962.
JD472100 - Sequence 453124 from Patent EP1572962.
JD404949 - Sequence 385973 from Patent EP1572962.
L29142 - Homo sapiens myosin mRNA, partial cds.
JD143386 - Sequence 124410 from Patent EP1572962.
JD450539 - Sequence 431563 from Patent EP1572962.
JD418449 - Sequence 399473 from Patent EP1572962.
JD142181 - Sequence 123205 from Patent EP1572962.
JD538110 - Sequence 519134 from Patent EP1572962.
JD338656 - Sequence 319680 from Patent EP1572962.
JD260980 - Sequence 242004 from Patent EP1572962.
JD422363 - Sequence 403387 from Patent EP1572962.
JD281811 - Sequence 262835 from Patent EP1572962.
JD229485 - Sequence 210509 from Patent EP1572962.
AB111886 - Homo sapiens mRNA for KIAA2034 protein.
JD405041 - Sequence 386065 from Patent EP1572962.
JD137971 - Sequence 118995 from Patent EP1572962.
JD319696 - Sequence 300720 from Patent EP1572962.
JD389586 - Sequence 370610 from Patent EP1572962.
JD561570 - Sequence 542594 from Patent EP1572962.
JD282593 - Sequence 263617 from Patent EP1572962.
JD078367 - Sequence 59391 from Patent EP1572962.
FJ041910 - Homo sapiens nonmuscle myosin heavy chain II-C variant (MYH14) mRNA, partial cds, alternatively spliced.
JD465712 - Sequence 446736 from Patent EP1572962.
JD465074 - Sequence 446098 from Patent EP1572962.
JD049700 - Sequence 30724 from Patent EP1572962.
JD079758 - Sequence 60782 from Patent EP1572962.
JD134154 - Sequence 115178 from Patent EP1572962.
JD189093 - Sequence 170117 from Patent EP1572962.
JD252889 - Sequence 233913 from Patent EP1572962.
JD380210 - Sequence 361234 from Patent EP1572962.
JD437714 - Sequence 418738 from Patent EP1572962.
JD439515 - Sequence 420539 from Patent EP1572962.
JD322167 - Sequence 303191 from Patent EP1572962.
JD056277 - Sequence 37301 from Patent EP1572962.
JD217255 - Sequence 198279 from Patent EP1572962.
JD477681 - Sequence 458705 from Patent EP1572962.
JD336456 - Sequence 317480 from Patent EP1572962.
JD370393 - Sequence 351417 from Patent EP1572962.
JD538032 - Sequence 519056 from Patent EP1572962.
JD053694 - Sequence 34718 from Patent EP1572962.
AY203926 - Homo sapiens FP17425 mRNA, complete cds.
BC004396 - Homo sapiens myosin, heavy chain 14, mRNA (cDNA clone IMAGE:3636023), partial cds.
BC000676 - Homo sapiens myosin, heavy chain 14, mRNA (cDNA clone IMAGE:3349352), partial cds.
CR936653 - Homo sapiens mRNA; cDNA DKFZp667A1311 (from clone DKFZp667A1311).
AK303704 - Homo sapiens cDNA FLJ56368 complete cds, highly similar to Myosin-14.
AK023943 - Homo sapiens cDNA FLJ13881 fis, clone THYRO1001458, moderately similar to MYOSIN HEAVY CHAIN, NONMUSCLE TYPE B.
JD195835 - Sequence 176859 from Patent EP1572962.
JD479633 - Sequence 460657 from Patent EP1572962.
AK122704 - Homo sapiens cDNA FLJ16179 fis, clone BRHIP3000070, highly similar to Myosin-14.
BC007877 - Homo sapiens myosin, heavy chain 14, mRNA (cDNA clone IMAGE:3946227), partial cds.
AK091982 - Homo sapiens cDNA FLJ34663 fis, clone KIDNE2019187.
AX747290 - Sequence 815 from Patent EP1308459.
JD239890 - Sequence 220914 from Patent EP1572962.
JD192512 - Sequence 173536 from Patent EP1572962.
JD089376 - Sequence 70400 from Patent EP1572962.
JD526751 - Sequence 507775 from Patent EP1572962.
JD323151 - Sequence 304175 from Patent EP1572962.
JD219598 - Sequence 200622 from Patent EP1572962.
JD487581 - Sequence 468605 from Patent EP1572962.
JD361017 - Sequence 342041 from Patent EP1572962.
JD444016 - Sequence 425040 from Patent EP1572962.
JD197032 - Sequence 178056 from Patent EP1572962.
JD084629 - Sequence 65653 from Patent EP1572962.
JD057761 - Sequence 38785 from Patent EP1572962.
JD259352 - Sequence 240376 from Patent EP1572962.
JD130357 - Sequence 111381 from Patent EP1572962.
JD560794 - Sequence 541818 from Patent EP1572962.
JD258368 - Sequence 239392 from Patent EP1572962.
JD493243 - Sequence 474267 from Patent EP1572962.
JD437945 - Sequence 418969 from Patent EP1572962.
JD388650 - Sequence 369674 from Patent EP1572962.
JD077083 - Sequence 58107 from Patent EP1572962.
JD418174 - Sequence 399198 from Patent EP1572962.
JD044543 - Sequence 25567 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q7Z406 (Reactome details) participates in the following event(s):

R-HSA-419197 Myosin regulatory light chain phosphorylation by ROCK
R-HSA-3928616 Activated ROCK phosphorylates MRLCs
R-HSA-5668932 PAK2 phosphorylates myosin regulatory light chain (MRLC)
R-HSA-5668978 MYLK (MLCK) phosphorylates MRLCs of the non-muscle myosin II complex
R-HSA-5671919 Activated CIT phosphorylates MRLCs
R-HSA-419232 Myosin phosphatase dephosphorylates myosin regulatory light chain
R-HSA-416572 Sema4D induced cell migration and growth-cone collapse
R-HSA-5627117 RHO GTPases Activate ROCKs
R-HSA-3928663 EPHA-mediated growth cone collapse
R-HSA-5627123 RHO GTPases activate PAKs
R-HSA-5625900 RHO GTPases activate CIT
R-HSA-5625740 RHO GTPases activate PKNs
R-HSA-400685 Sema4D in semaphorin signaling
R-HSA-195258 RHO GTPase Effectors
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-373755 Semaphorin interactions
R-HSA-194315 Signaling by Rho GTPases
R-HSA-422475 Axon guidance
R-HSA-162582 Signal Transduction
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B0I1S2, C3TTN4, ENST00000642316.1, FP17425, KIAA2034, MYH14_HUMAN, NM_001145809, Q5CZ75, Q6XYE4, Q76B62, Q7Z406, Q8WV23, Q96I22, Q9BT27, Q9BW35, Q9H882, uc328ipe.1, uc328ipe.2
UCSC ID: ENST00000642316.2_5
RefSeq Accession: NM_001145809.2
Protein: Q7Z406 (aka MYH14_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MYH14:
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.