MYO7A Gene
protein-coding GIFtS: 62
GCID: GC11P076839
|
|
myosin VIIA(Previous names: myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))...)
(Previous symbols: USH1B, DFNB2, DFNA11)
| |
Aliases
for MYO7A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Myosin VIIA1 2 | | Myosin VIIA (Usher Syndrome 1B (Autosomal Recessive, Severe))1 2 | | USH1B1 2 3 5 | | MYOVIIA2 | | DFNA111 2 5 | | MYU7A2 | | DFNB21 2 5 | | Unconventional Myosin-VIIa2 | | NSRD21 2 | | |
Export aliases for MYO7A gene to outside databasesPrevious GC identifers: GC11P079166 GC11P078378 GC11P077062 GC11P076565 GC11P076516 GC11P073136 |
Summaries
for MYO7A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MYO7A:
This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence ofa motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain thatserves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene areassociated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness,reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcriptvariants. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: MYO7A_HUMAN, Q13402Function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellularmovements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actinfilaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an importantrole in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in theregulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation,morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking ofaminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functionalnetwork formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required fornormal hearing
Gene Wiki entry for MYO7A
|
Genomic Views
for MYO7A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_167190.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MYO7A gene promoter:
CREB FOXF2 deltaCREB STAT3 YY1
Other transcription factors
Search SABiosciences Chromatin IP Primers for MYO7A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYO7A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11q13.5 Ensembl cytogenetic band: 11q13.5 HGNC cytogenetic band: 11q13.5MYO7A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P076839: view genomic region
(about GC identifiers)
Start:
|
76,839,310 bp from pter |
End:
|
76,926,286 bp from pter |
Size:
|
86,977 bases |
Orientation:
|
plus strand |
|
Proteins
for MYO7A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MYO7A_HUMAN, Q13402 (See
protein sequence)Recommended Name: Unconventional myosin-VIIa Size: 2215 amino acids; 254390 Da
Subunit: Interacts with PLEKHB1 (via PH domain). Interacts with PCDH15. Interacts with RPE65. Interacts with TWF2 (Bysimilarity). Might homodimerize in a two headed molecule through the formation of a coiled-coil rod. May interact withCALM. Binds MYRIP and WHRN. Identified in a complex with USH1C and USH1G
Subcellular location: Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Note=In the photoreceptor cells,mainly localized in the inner and base of outer segments as well as in the synaptic ending region. Colocalizes with asubset of melanosomes in retinal pigment epithelium cells. Detected at the tip of cochlear hair cell stereocilia. Thecomplex formed by MYO7A, USH1C and USH1G colocalizes with F-actin
Developmental stage: Detected in optic cup in 5.5 weeks-old embryos. Expressed in retinal pigment epithelium, cochlearand vestibular neuroepithelia, and olfactory epithelium at 8 weeks. At 19 weeks, present in both pigment epitheliumand photoreceptor cells. At 24-28 weeks, expression in pigment epithelium and photoreceptor cells increases. Presentin pigment epithelium and photoreceptor cells in adult
Caution: Represents a unconventional myosin. This protein should not be confused with the conventional myosin-7 (MYH7)
Secondary accessions: F8VUN5 P78427 Q13321 Q14785 Q92821 Q92822Alternative splicing: 7 isoforms: Q13402-1 Q13402-2 Q13402-3 Q13402-4 Q13402-5 Q13402-6 Q13402-7 Explore the universe of human proteins at neXtProt for MYO7A: NX_Q13402
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q13402
MYO7A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_000251.3 NP_001120651.2 NP_001120652.1
ENSEMBL proteins: ENSP00000386331 ENSP00000386689 ENSP00000392185 ENSP00000386635 ENSP00000417017
Human Recombinant Protein Products:
Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14): About this table
MYO7A for ontologies About GeneDecksing
MYO7A Antibody Products:
Assay Products for MYO7A: |
Protein
Domains /
Families
for MYO7A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MYO7A for domains About GeneDecksing
5/10 InterPro domains/families (see all 10):Graphical View of Domain Structure for InterPro Entry Q13402ProtoNet protein and cluster: Q13402 2 Blocks protein families: IPB000048 IQ calmodulin-binding region IPB000857 Core domain in kinesin and myosin motor
UniProtKB/Swiss-Prot: MYO7A_HUMAN, Q13402Similarity: Contains 2 FERM domainsSimilarity: Contains 5 IQ domainsSimilarity: Contains 1 myosin head-like domainSimilarity: Contains 2 MyTH4 domainsSimilarity: Contains 1 SH3 domain |
Function
for MYO7A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MYO7A_HUMAN, Q13402Function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellularmovements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actinfilaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an importantrole in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in theregulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation,morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking ofaminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functionalnetwork formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required fornormal hearingEnzyme regulation: ATP hydrolysis is inhibited by Mg(2+), already at a concentration of 0.4 mM Genatlas biochemistry entry for MYO7A:myosin VIIA,145kDa,unconventional,apparently non filamentous,mainly expressed in hair cells of cochlea and pigmentepithelium of the retina and testis
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MYO7A (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MYO7A (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO7A |
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
MYO7A for ontologies About GeneDecksing
Animal Models:
13 MGI mutant phenotypes (inferred from 16 alleles ) (MGI details for Myo7a):
MYO7A for phenotypes About GeneDecksing
|
Pathways & Interactions
for MYO7A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | PAK Pathway | | | 2 | Sertoli-Sertoli Cell Junction Dynamics | | | 3 | Fc-GammaR-Mediated Phagocytosis in Macrophages | | | 4 | Actin Nucleation by ARP-WASP Complex | | | 5 | Sweet Taste Signaling | |
5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYO7A (see all 13)
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYO7A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 18)
5/27 Interacting proteins for MYO7A (Q134022, 3 ENSP000003863314) via UniProtKB, MINT, STRING, and/or I2D (see all 27)About this table
Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table
MYO7A for ontologies About GeneDecksing
|
Drugs & Compounds
for MYO7A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MYO7A for compounds About GeneDecksing
 Browse Tocris compounds for MYO7A
4 Novoseek chemical compound relationships for MYO7A gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| actomyosin |
40 |
1 |
18700726 (1) |
| gentamicin |
24 |
2 |
17048225 (2) |
| adp |
5.35 |
2 |
16585515 (1), 18700726 (1) |
| calcium |
5.21 |
1 |
14645474 (1) |
Search CenterWatch for drugs/clinical trials and news about MYO7A
|
Transcripts
for MYO7A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MYO7A gene (3 alternative transcripts): NM_000260.3 NM_001127179.2 NM_001127180.1 Unigene Cluster for MYO7A: Myosin VIIA Hs.370421 [show with all ESTs]Unigene Representative Sequence: NM_00026011 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000409709(uc001oyb.2 uc001oyc.2) ENST00000409893(uc010rsl.2)
ENST00000458637 ENST00000409619(uc010rsm.1 uc009yut.1) ENST00000481328(uc001oyd.3)
ENST00000458169 ENST00000479071(uc009yus.1) ENST00000467137 ENST00000485276(uc001oye.2)
ENST00000526863 ENST00000481532
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MYO7A (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MYO7A (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): MYO7A (NM_000260) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MYO7A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYO7A |
Additional cDNA sequence: AB209629.1 AB290181.1 BC023212.1 BC030215.1 BC144519.1 U34227.1 U39226.1 U55208.1 U55209.1 9 DOTS entries: DT.114244 DT.100743129 DT.101980805 DT.100741455 DT.120707216 DT.75174966 DT.75137629 DT.91961155 DT.92018715 24/81 AceView cDNA sequences (see all 81): BF035328 BM687728 AA608927 U55208 BI008082 BM705493 BI825665 BC030215 BG396645 BI819772 BC023212 BM695680 BU730631 AA348958 AL135727 BQ695126 BU165467 AW501312 BM707199 U34227 BV204517 BQ640187 NM_000260 AW960060
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for MYO7A About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 25a | · | 25b | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34a | · | 34b | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46 | ^ | 47 | ^ |
|---|
|
| SP1: | | | - | | | | | | | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | - | | | | | | | | - | | | | - | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | - | | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for MYO7A
|
Expression
for MYO7A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MYO7A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTCATTCTC
About this image
See MYO7A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYO7A
SOURCE GeneReport for Unigene cluster: Hs.370421
UniProtKB/Swiss-Prot: MYO7A_HUMAN, Q13402Tissue specificity: Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found inkidney, liver, testis, cochlea, lymphocytes. Not expressed in brain
SABiosciences Custom PCR Arrays for MYO7A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MYO7A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MYO7A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYO7A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYO7A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO7A |
Orthologs
for MYO7A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MYO7A gene from 6/22 species (see all 22) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
MYO7A1 |
myosin VIIA |
80.01(n)
89.18(a) |
|
419085 XM_417277.3 XP_417277.3 |
lizard
(Anolis carolinensis) |
Reptilia |
MYO7A6 |
-- |
87(a) |
1 ↔ 1 |
GL343337.1(1040054-1179267) |
zebrafish
(Danio rerio) |
Actinopterygii |
myo7a2 |
myosin VIIa |
78.99(n) |
|
252846 AJ404002.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
ck1 , 3 |
myosin ATPase3
crinkled1 |
61(a)
(best of 3)3
62.06(n)1
63.27(a)1 |
|
348821 NM_078847.31 NP_523571.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
hum-63 |
myosin |
49(a) |
|
X(2338423-2349954) -- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
VIIIB1 |
myosin heavy chain-like protein |
47.25(n)
40.51(a) |
|
828845 NM_118871.5 NP_194467.5 |
ENSEMBL Gene Tree for MYO7A (if available)
TreeFam Gene Tree for MYO7A (if available) |
Paralogs
for MYO7A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MYO7A gene
- MYO3A2 MYO9A2 MYO5C2 MYO102 MYO15A2 MYO9B2 MYO162 MYO5A2
- MYO7B2 MYO5B2 MYO62 MYO3B2
18/26 SIMAP similar genes for MYO7A using alignment to 4 protein entries: MYO7A_HUMAN (see all proteins)
(see all similar genes):MYO7B MYO5C MYH9 MYO1B MYO10 MYO5B
MYO1G MYO1A MYO1H MYO1E MYO1D MYH10
DKFZp686A01173 MYO1C MYH11 MYH2 MYO19 MYO3B
MYO7A for paralogs About GeneDecksing
|
Genomic Variants
for MYO7A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MYO7A (76839310 - 76926286 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for MYO7A
2 Indels: 41786 66002
Human Gene Mutation Database (HGMD): MYO7A
Locus Specific Mutation Databases (LSDB): MYO7A
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MYO7A |
|
Disorders
/ Diseases
for MYO7A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MYO7A for disorders About GeneDecksing
OMIM gene information: 276903
OMIM disorders: 276900 600060 601317
UniProtKB/Swiss-Prot: MYO7A_HUMAN, Q13402
Defects in MYO7A are the cause of Usher syndrome type 1B (USH1B) [MIM:276900]. USH is a geneticallyheterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age atonset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrometype 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness,absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness Defects in MYO7A are the cause of deafness autosomal recessive type 2 (DFNB2) [MIM:600060]; also calledneurosensory non-syndromic recessive deafness 2 (NSRD2). DFNB2 is a form of sensorineural hearing loss. Sensorineuraldeafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area ofthe brain that receives sound information Defects in MYO7A are the cause of deafness autosomal dominant type 11 (DFNA11) [MIM:601317] Note=Defects in MYO7A may be a cause of Leber congenital amaurosis (LCA), a severe dystrophy of the retina,typically becoming evident in the first years of life. Visual function is usually poor and often accompanied bynystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus
20/23  diseases for MYO7A (see all 23): About MalaCardsusher syndrome deafness, autosomal dominant 11, neurosensory deafness, autosomal recessive 2, neurosensory retinal degeneration
usher syndrome type 1g retinitis usher syndrome, type 1b leber congenital amaurosis
usher syndrome type i usher syndrome type 3 dfnb1 hearing loss
sensorineural hearing loss nonsyndromic deafness hyperopia nystagmus
keratoconus blindness retinal disease atherosclerosis
5 diseases from the University of Copenhagen DISEASES database for MYO7A:Usher syndrome Retinitis pigmentosa Nonsyndromic deafness Sensorineural hearing loss
Blindness 10/13 Novoseek disease relationships for MYO7A gene (see all 13) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| usher syndrome |
97.6 |
52 |
15823922 (3), 16470552 (3), 7568224 (2), 8884267 (2) (see all 34) |
| dfnb2 |
96.7 |
14 |
18181211 (5), 8776602 (2), 11992483 (2), 9927480 (1) (see all 7) |
| dfna11 |
95.7 |
11 |
11889386 (3), 8776602 (2), 15300860 (1), 11992483 (1) (see all 7) |
| congenital deafness |
87.8 |
2 |
10958658 (2) |
| retinitis pigmentosa |
85.7 |
6 |
10502787 (1), 10612833 (1), 8622919 (1), 11222540 (1) |
| dfnb3 |
79.5 |
1 |
11101839 (1) |
| dfnb1 |
79.1 |
1 |
11101839 (1) |
| deafness sensorineural |
78 |
2 |
8776602 (1), 8622919 (1) |
| retinal degeneration |
74.7 |
7 |
11889386 (2), 16001398 (1), 11992483 (1), 8884267 (1) |
| hearing loss sensorineural |
65.7 |
2 |
8776602 (1), 11450843 (1) |
GeneTests: MYO7A
Usher Syndrome Type 1
Genetic Association Database (GAD): MYO7A
Human Genome Epidemiology (HuGE) Navigator: MYO7A (8 documents)
Export disorders for MYO7A gene to outside databases
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Publications
for MYO7A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
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PubMed articles for MYO7A gene, integrated from 9 sources (see all 171):
(articles sorted by number of sources associating them with MYO7A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PubMed id 15660226)1, 2, 4, 9 Ouyang X.M.... Liu X.Z. (2005)
- Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. (PubMed id 8842737)1, 2, 9 El-Amraoui A.... Petit C. (1996)
- Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. (PubMed id 7568224)1, 2, 9 Hasson T....Mooseker M.S. (1995)
- Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (PubMed id 10930322)1, 2, 9 Bharadwaj A.K.... Dryja T.P. (2000)
- Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). (PubMed id 15300860)1, 2, 9 Bolz H....Gal A. (2004)
- Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B. (PubMed id 8884267)1, 2, 9 Chen Z.-Y.... Corey D.P. (1996)
- Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. (PubMed id 8900236)1, 2, 9 Weston M.D.... Kimberling W.J. (1996)
- Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. (PubMed id 10094549)1, 2, 9 Janecke A.R.... Gal A. (1999)
- The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. (PubMed id 9171833)1, 2, 9 Weil D.... Petit C. (1997)
- Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. (PubMed id 9171832)1, 2, 9 Liu X.-Z.... Brown S.D.M. (1997)
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External Searches for MYO7A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing MYO7A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing MYO7A gene
(According to HUGE)
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Specialized Databases showing MYO7A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for MYO7A | Pharmacogenomics, SNPs, Pathways | | Hereditary hearing loss homepage | http://webhost.ua.ac.be/hhh/ | | Mutations of the MYO7A gene | http://www.retina-international.org/files/sci-news/myomut.htm | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYO7A |
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| Patent Information for MYO7A gene:
Search GeneIP for patents involving MYO7A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MYO7A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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