MYO7A myosin VIIA [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYO7Aprovided by HGNC
Official Full Name: myosin VIIAprovided by HGNC
Primary source: HGNC:HGNC:7606
See related: Ensembl:ENSG00000137474 MIM:276903; AllianceGenome:HGNC:7606
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: DFNB2; MYU7A; NSRD2; USH1B; DFNA11; MYOVIIA
Summary: This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated 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 transcript variants. [provided by RefSeq, Jul 2008]
Expression: Broad expression in adrenal (RPKM 8.3), testis (RPKM 6.5) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.5

Exon count:: 56

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (77128246..77215241)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (77058823..77147851)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (76839292..76926286)

Chromosome 11 - NC_000011.10 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 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?

Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.
Title: Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Title: Dispersed DNA variants underlie hearing loss in South Florida's minority population.
New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family.
Title: New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family.
Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS.
Title: Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS.
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
Title: Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease.
Title: Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease.
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Title: The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Title: Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.
Title: Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.
Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene.
Title: Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene.

Submit: New GeneRIF Correction See all GeneRIFs (95)

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 dominant nonsyndromic hearing loss 11 MedGen: C1832475 OMIM: 601317 GeneReviews: Genetic Hearing Loss Overview	not available
Autosomal recessive nonsyndromic hearing loss 2 MedGen: C1838701 OMIM: 600060 GeneReviews: Not available	not available
Usher syndrome type 1 MedGen: C1568247 OMIM: 276900 GeneReviews: Usher Syndrome Type I	not available

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

SHGC-83220 (e-PCR)
- UniSTS:100879

D11S2103 (e-PCR)
- UniSTS:150059

SHGC-145582 (e-PCR)
- UniSTS:174659

RH80322 (e-PCR)
- UniSTS:88670

RH80831 (e-PCR)
- UniSTS:89462

GDB:581521 (e-PCR)
- UniSTS:157856

RH79024 (e-PCR)
- UniSTS:40367

SHGC-146593 (e-PCR)
- UniSTS:175311

RH66537 (e-PCR)
- UniSTS:27110

MARC_11617-11618:1002744065:3 (e-PCR)
- UniSTS:267246

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables microfilament motor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables spectrin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament-based movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament-based movement	IDA Inferred from Direct Assay more info	PubMed
involved_in auditory receptor cell stereocilium organization	IEA Inferred from Electronic Annotation more info
involved_in cochlea development	IEA Inferred from Electronic Annotation more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in equilibrioception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye photoreceptor cell development	IC Inferred by Curator more info	PubMed
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in lysosome organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within mechanoreceptor differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in phagolysosome assembly	IEA Inferred from Electronic Annotation more info
involved_in pigment granule transport	IEA Inferred from Electronic Annotation more info
involved_in protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in sensory organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in microvillus	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin VII complex	IEA Inferred from Electronic Annotation more info
located_in photoreceptor connecting cilium	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium	ISS Inferred from Sequence or Structural Similarity more info
located_in stereocilium base	ISS Inferred from Sequence or Structural Similarity more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
located_in upper tip-link density	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: unconventional myosin-VIIa

Names: myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))

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_009086.2 RefSeqGene

Range

5001..91996

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1420

mRNA and Protein(s)

NM_000260.4 → NP_000251.3 unconventional myosin-VIIa isoform 1

See identical proteins and their annotated locations for NP_000251.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AP000752, BG108466, U34227, U39226, U55208

Consensus CDS

CCDS53683.1

UniProtKB/Swiss-Prot

B9A011, F8VUN5, P78427, Q13321, Q13402, Q14785, Q92821, Q92822

Related

ENSP00000386331.3, ENST00000409709.9

Conserved Domains (14) summary

smart00015
Location:766 → 787

IQ; Calmodulin-binding motif

smart00139
Location:1763 → 1896

MyTH4; Domain in Myosin and Kinesin Tails

smart00242
Location:60 → 741

MYSc; Myosin. Large ATPases

smart00295
Location:1903 → 2115

B41; Band 4.1 homologues

cd13198
Location:1468 → 1604

FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)

cd13199
Location:2111 → 2206

FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)

cd14473
Location:1363 → 1463

FERM_B-lobe; FERM domain B-lobe

cd01381
Location:79 → 729

MYSc_Myo7; class VII myosin, motor domain

pfam00373
Location:2013 → 2115

FERM_M; FERM central domain

pfam05672
Location:866 → 935

MAP7; MAP7 (E-MAP-115) family

pfam09379
Location:1262 → 1301

FERM_N; FERM N-terminal domain

pfam15743
Location:808 → 946

SPATA1_C; Spermatogenesis-associated C-terminus

cl17036
Location:1605 → 1669

SH3; Src Homology 3 domain superfamily

cl19107
Location:866 → 934

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_001127180.2 → NP_001120652.1 unconventional myosin-VIIa isoform 2

See identical proteins and their annotated locations for NP_001120652.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame segment in the coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.

Source sequence(s)

AP000752, BG108466, U39226, U55208

Consensus CDS

CCDS53684.1

UniProtKB/Swiss-Prot

Q13402

Related

ENSP00000392185.2, ENST00000458637.6

Conserved Domains (13) summary

smart00015
Location:766 → 787

IQ; Calmodulin-binding motif

smart00139
Location:1725 → 1858

MyTH4; Domain in Myosin and Kinesin Tails

smart00242
Location:60 → 741

MYSc; Myosin. Large ATPases

smart00295
Location:1865 → 2077

B41; Band 4.1 homologues

cd13198
Location:1468 → 1566

FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)

cd13199
Location:2073 → 2166

FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)

cd14473
Location:1363 → 1463

FERM_B-lobe; FERM domain B-lobe

cd01381
Location:79 → 729

MYSc_Myo7; class VII myosin, motor domain

pfam00373
Location:1975 → 2077

FERM_M; FERM central domain

pfam05672
Location:866 → 935

MAP7; MAP7 (E-MAP-115) family

pfam09379
Location:1262 → 1301

FERM_N; FERM N-terminal domain

cl17036
Location:1567 → 1631

SH3; Src Homology 3 domain superfamily

cl19107
Location:866 → 934

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_001369365.1 → NP_001356294.1 unconventional myosin-VIIa isoform 4

Status: REVIEWED

Source sequence(s)

AP000752, AP001855, KF511157

Consensus CDS

CCDS91543.1

Related

ENSP00000386635.2, ENST00000409619.6

Conserved Domains (11) summary

smart00015
Location:755 → 776

IQ; Calmodulin-binding motif

smart00139
Location:1714 → 1847

MyTH4; Domain in Myosin and Kinesin Tails

smart00295
Location:1854 → 2066

B41; Band 4.1 homologues

COG3064
Location:785 → 955

TolA; Membrane protein involved in colicin uptake [Cell wall/membrane/envelope biogenesis]

cd13198
Location:1457 → 1555

FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)

cd13199
Location:2062 → 2157

FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)

cd01381
Location:68 → 718

MYSc_Myo7; class VII myosin, motor domain

pfam05672
Location:846 → 923

MAP7; MAP7 (E-MAP-115) family

cd17092
Location:1246 → 1344

FERM1_F1_Myosin-VII; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain 1, F1 sub-domain, found in Myosin-VIIa, Myosin-VIIb, and similar proteins

cd17093
Location:1852 → 1949

FERM2_F1_Myosin-VII; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain 2, F1 sub-domain, found in Myosin-VIIa, Myosin-VIIb, and similar proteins

cl17036
Location:1556 → 1620

SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

77128246..77215241

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545044.3 → XP_011543346.1 unconventional myosin-VIIa isoform X5

Conserved Domains (13) summary

smart00015
Location:766 → 787

IQ; Calmodulin-binding motif

smart00139
Location:1763 → 1896

MyTH4; Domain in Myosin and Kinesin Tails

smart00242
Location:60 → 741

MYSc; Myosin. Large ATPases

smart00295
Location:1903 → 2115

B41; Band 4.1 homologues

cd13198
Location:1468 → 1604

FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)

cd14473
Location:1363 → 1463

FERM_B-lobe; FERM domain B-lobe

cd01381
Location:79 → 729

MYSc_Myo7; class VII myosin, motor domain

pfam00373
Location:2013 → 2115

FERM_M; FERM central domain

pfam05672
Location:866 → 935

MAP7; MAP7 (E-MAP-115) family

pfam09379
Location:1262 → 1301

FERM_N; FERM N-terminal domain

pfam15743
Location:808 → 946

SPATA1_C; Spermatogenesis-associated C-terminus

cl17036
Location:1605 → 1669

SH3; Src Homology 3 domain superfamily

cl19107
Location:866 → 934

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_047426970.1 → XP_047282926.1 unconventional myosin-VIIa isoform X10
XM_047426971.1 → XP_047282927.1 unconventional myosin-VIIa isoform X13
XM_017017780.2 → XP_016873269.1 unconventional myosin-VIIa isoform X4
XM_017017788.2 → XP_016873277.1 unconventional myosin-VIIa isoform X19
XM_017017784.2 → XP_016873273.1 unconventional myosin-VIIa isoform X9
XM_017017786.2 → XP_016873275.1 unconventional myosin-VIIa isoform X12
XM_017017778.2 → XP_016873267.1 unconventional myosin-VIIa isoform X2
XM_017017779.2 → XP_016873268.1 unconventional myosin-VIIa isoform X3
XM_011545046.3 → XP_011543348.2 unconventional myosin-VIIa isoform X1
XM_017017781.2 → XP_016873270.1 unconventional myosin-VIIa isoform X6
XM_017017785.2 → XP_016873274.1 unconventional myosin-VIIa isoform X11
XM_017017782.2 → XP_016873271.1 unconventional myosin-VIIa isoform X7
XM_017017783.2 → XP_016873272.1 unconventional myosin-VIIa isoform X8
XM_047426972.1 → XP_047282928.1 unconventional myosin-VIIa isoform X15
XM_047426974.1 → XP_047282930.1 unconventional myosin-VIIa isoform X17
XM_017017787.2 → XP_016873276.1 unconventional myosin-VIIa isoform X18
XM_047426973.1 → XP_047282929.1 unconventional myosin-VIIa isoform X16
XM_011545050.3 → XP_011543352.1 unconventional myosin-VIIa isoform X14

Conserved Domains (12) summary

smart00015
Location:680 → 701

IQ; Calmodulin-binding motif

smart00139
Location:1675 → 1808

MyTH4; Domain in Myosin and Kinesin Tails

smart00242
Location:10 → 655

MYSc; Myosin. Large ATPases

smart00295
Location:1815 → 2027

B41; Band 4.1 homologues

cd13198
Location:1418 → 1516

FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)

cd14473
Location:1313 → 1413

FERM_B-lobe; FERM domain B-lobe

cd01381
Location:10 → 643

MYSc_Myo7; class VII myosin, motor domain

pfam00373
Location:1925 → 2027

FERM_M; FERM central domain

pfam05672
Location:780 → 849

MAP7; MAP7 (E-MAP-115) family

pfam09379
Location:1176 → 1215

FERM_N; FERM N-terminal domain

cl17036
Location:1517 → 1581

SH3; Src Homology 3 domain superfamily

cl19107
Location:780 → 848

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

RNA

XR_001747888.2 RNA Sequence
XR_001747889.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

77058823..77147851

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368856.1 → XP_054224831.1 unconventional myosin-VIIa isoform X5
XM_054368861.1 → XP_054224836.1 unconventional myosin-VIIa isoform X10
XM_054368864.1 → XP_054224839.1 unconventional myosin-VIIa isoform X13
XM_054368869.1 → XP_054224844.1 unconventional myosin-VIIa isoform X31
XM_054368868.1 → XP_054224843.1 unconventional myosin-VIIa isoform X30
XM_054368857.1 → XP_054224832.1 unconventional myosin-VIIa isoform X23
XM_054368853.1 → XP_054224828.1 unconventional myosin-VIIa isoform X20
XM_054368854.1 → XP_054224829.1 unconventional myosin-VIIa isoform X21
XM_054368852.1 → XP_054224827.1 unconventional myosin-VIIa isoform X16
XM_054368862.1 → XP_054224837.1 unconventional myosin-VIIa isoform X27
XM_054368866.1 → XP_054224841.1 unconventional myosin-VIIa isoform X29
XM_054368858.1 → XP_054224833.1 unconventional myosin-VIIa isoform X24
XM_054368859.1 → XP_054224834.1 unconventional myosin-VIIa isoform X25
XM_054368863.1 → XP_054224838.1 unconventional myosin-VIIa isoform X28
XM_054368855.1 → XP_054224830.1 unconventional myosin-VIIa isoform X22
XM_054368860.1 → XP_054224835.1 unconventional myosin-VIIa isoform X26
XM_054368870.1 → XP_054224845.1 unconventional myosin-VIIa isoform X32
XM_054368867.1 → XP_054224842.1 unconventional myosin-VIIa isoform X16
XM_054368865.1 → XP_054224840.1 unconventional myosin-VIIa isoform X14

RNA

XR_008488401.1 RNA Sequence
XR_008488400.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001127179.2: Suppressed sequence

Description

NM_001127179.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.