• Gene id: 4648

Gene Summary

• Gene Symbol: MYO7B   Gene   UCSC   Ensembl
• Gene name: myosin VIIB
• Alternate names: unconventional myosin-VIIb,
• Gene location: 2q14.3 (127535688: 127637727)     Exons: 47     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskeleton and is essential for proper microvilli function. Th
• OMIM: 602129

Protein Summary

• Protein general information: Q6PIF6  
  • Name: Unconventional myosin VIIb
  • Length: 2116  
  • Mass: 241599
• Sequence:

  MSGFRLGDHVWLEPPSTHKTGVAIGGIIKEAKPGKVLVEDDEGKEHWIRAEDFGVLSPMHPNSVQGVDDMIRLGD
  LNEAGMVHNLLIRYQQHKIYTYTGSILVAVNPFQVLPLYTLEQVQLYYSRHMGELPPHVFAIANNCYFSMKRNKR
  DQCCIISGESGAGKTETTKLILQFLATISGQHSWIEQQVLEANPILEAFGNAKTIRNDNSSRFGKYIDIYFNPSG
  VIEGARIEQFLLEKSRVCRQAPEERNYHIFYCMLMGVSAEDKQLLSLGTPSEYHYLTMGNCTSCEGLNDAKDYAH
  IRSAMKILQFSDSESWDVIKLLAAILHLGNVGFMASVFENLDASDVMETPAFPTVMKLLEVQHQELRDCLIKHTI
  LIRGEFVTRSLNIAQAADRRDAFVKGIYGHLFLWIVKKINAAIFTPPAQDPKNVRRAIGLLDIFGFENFENNSFE
  QLCINFANEHLQQFFVQHVFTMEQEEYRSENISWDYIHYTDNRPTLDLLALKPMSIISLLDEESRFPQGTDLTML
  QKLNSVHANNKAFLQPKNIHDARFGIAHFAGEVYYQAEGFLEKNRDVLSTDILTLVYSSKNKFLREIFNLELAET
  KLGHGTIRQAKAGNHLFKSADSNKRPSTLGSQFKQSLDQLMKILTNCQPYFIRCIKPNEYKKPLLFDRELCLRQL
  RYSGMMETVHIRKSGFPIRYTFEEFSQRFGVLLPNAMRMQLQGKLRQMTLGITDVWLRTDKDWKAGKTKIFLRDH
  QDTLLEVQRSQVLDRAALSIQKVLRGYRYRKEFLRQRRAAVTLQAWWRGYCNRRNFKLILVGFERLQAIARSQPL
  ARQYQAMRQRTVQLQALCRGYLVRQQVQAKRRAVVVIQAHARGMAARRNFQQRKANAPLVIPAEGQKSQGALPAK
  KRRSIYDTVTDTEMVEKVFGFLPAMIGGQEGQASPHFEDLESKTQKLLEVDLDTVPMAEEPEEDVDGLAEYTFPK
  FAVTYFQKSASHTHIRRPLRYPLLYHEDDTDCLAALVIWNVILRFMGDLPEPVLYARSSQQGSSVMRQIHDTLGR
  EHGAQVPQHSRSAQVASQLNIGEEALEPDGLGADRPMSNLEKVHFIVGYAILRPSLRDEIYCQICKQLSENFKTS
  SLARGWILLSLCLGCFPPSERFMKYLLNFIGQGPATYGPFCAERLRRTYANGVRAEPPTWLELQAVKSKKHIPIQ
  VILATGESLTVPVDSASTSREMCMHIAHKQGLSDHLGFSLQVAVYDKFWSLGSGRDHMMDAIARCEQMAQERGES
  QRQSPWRIYFRKEFFTPWHDSREDPVSTELIYRQVLRGVWSGEYSFEKEEELVELLARHCYVQLGASAESKAVQE
  LLPSCIPHKLYRTKPPDRWASLVTAACAKAPYTQKQVTPLAVREQVVDAARLQWPLLFSRLFEVITLSGPRLPKT
  QLILAVNWKGLCFLDQQEKMLLELSFPEVMGLATNREAQGGQRLLLSTMHEEYEFVSPSSVAIAELVALFLEGLK
  ERSIFAMALQDRKATDDTTLLAFKKGDLLVLTKKQGLLASENWTLGQNDRTGKTGLVPMACLYTIPTVTKPSAQL
  LSLLAMSPEKRKLAAQEGQFTEPRPEEPPKEKLHTLEEFSYEFFRAPEKDMVSMAVLPLARARGHLWAYSCEPLR
  QPLLKRVHANVDLWDIACQIFVAILRYMGDYPSRQAWPTLELTDQIFTLALQHPALQDEVYCQILKQLTHNSNRH
  SEERGWQLLWLCTGLFPPSKGLLPHAQKFIDTRRGKLLAPDCSRRIQKVLRTGPRKQPPHQVEVEAAEQNVSRIC
  HKIYFPNDTSEMLEVVANTRVRDVCDSIATRLQLASWEGCSLFIKISDKVISQKEGDFFFDSLREVSDWVKKNKP
  QKEGAPVTLPYQVYFMRKLWLNISPGKDVNADTILHYHQELPKYLRGFHKCSREDAIHLAGLIYKAQFNNDRSQL
  ASVPKILRELVPENLTRLMSSEEWKKSILLAYDKHKDKTVEEAKVAFLKWICRWPTFGSAFFEVKQTSEPSYPDV
  ILIAINRHGVLLIHPKTKDLLTTYPFTKISSWSSGSTYFHMALGSLGRGSRLLCETSLGYKMDDLLTSYVQQLLS
  AMNKQRGSKAPALAST

• Structural information:
  • Protein Domains: (65..76-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (745..76-)
    (/note="IQ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116-)
    (763..79-)
    (/note="IQ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116";-)
  • Interpro: IPR019749  IPR014352  IPR035963  IPR019748  IPR000299   IPR000048  IPR036961  IPR001609  IPR008989  IPR041793  IPR041794  IPR036106  IPR000857  IPR038185  IPR027417  IPR011993  IPR036028  IPR001452  IPR029071  
  • Prosite: PS50057 PS50096 PS51456 PS51016 PS50002
  • CDD: cd14473 cd13198 cd13199 cd01381
  • PDB: 5MV7 5MV8 5XBF
  • PDBsum: 5MV7 5MV8 5XBF
  • STRING: ENSP00000415090
• Other Databases: GeneCards:  MYO7B  Malacards:  MYO7B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0007423	sensory organ development	IBA	biological process
GO:0007605	sensory perception of sound	IBA	biological process
GO:0030898	actin-dependent ATPase activity	IBA	molecular function
GO:0031982	vesicle	IBA	cellular component
GO:0000146	microfilament motor activity	IBA	molecular function
GO:0005902	microvillus	IBA	cellular component
GO:0007015	actin filament organization	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0030050	vesicle transport along actin filament	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0005902	microvillus	IDA	cellular component
GO:0005903	brush border	IDA	cellular component
GO:1904970	brush border assembly	IPI	biological process
GO:0090651	apical cytoplasm	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003774	motor activity	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090651	apical cytoplasm	IEA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray