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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYO7B Gene

protein-coding GIFtS: 50
GCID: GC02P128282

myosin VIIB

Explore 4 diseases affiliated with
MYO7B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Myosin VIIB¹ ²
Myosin-VIIb¹
Unconventional Myosin-VIIb²

External Ids:	HGNC: 7607¹	Entrez Gene: 4648²	Ensembl: ENSG00000169994⁷	OMIM: 606541⁵	UniProtKB: Q6PIF6³

Export aliases for MYO7B gene to outside databases

Previous GC identifers: GC02U990069 GC02P128470 GC02P128093 GC02P128009 GC02P120600

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: MYO7B_HUMAN, Q6PIF6

Function: Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to

bind to membranous compartments, which would be moved relative to actin filaments. May be have a role in the apical

membranes of transporting epithelia (By similarity)

(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_000002.11 NC_018913.1 NT_022135.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYO7B gene promoter:
E2F-4 E2F-3a ER-alpha E2F-5 p53 ATF-2 IRF-1 E2F-2 E2F E2F-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for MYO7B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYO7B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q21.1 Ensembl cytogenetic band: 2q14.3 HGNC cytogenetic band: 2q21.1

MYO7B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYO7B gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P128282: view genomic region (about GC identifiers)

Start:	128,293,378 bp from pter	End:	128,395,304 bp from pter
Size:	101,927 bases	Orientation:	plus strand

(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: MYO7B_HUMAN, Q6PIF6 (See protein sequence)

Recommended Name: Unconventional myosin-VIIb

Size: 2116 amino acids; 241599 Da

Subcellular location: Apical cell membrane (By similarity)

Caution: Represents a unconventional myosin. This protein should not be confused with the conventional myosin-7 (MYH7)

Sequence caution: Sequence=AAH35615.2; Type=Erroneous initiation;

Secondary accessions: Q14786 Q8TEE1

Alternative splicing: 2 isoforms: Q6PIF6-1 Q6PIF6-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MYO7B: NX_Q6PIF6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6PIF6

MYO7B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001073996.1

ENSEMBL proteins:

ENSP00000386461 ENSP00000456661 ENSP00000404927 ENSP00000386850 ENSP00000374175

ENSP00000415090

Human Recombinant Protein Products for MYO7B:

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	Uscn Proteins for MYO7B

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005856	cytoskeleton	--	--
GO:0016324	apical plasma membrane	IEA	--
GO:0016459	myosin complex	IEA	--

MYO7B for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MYO7B

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MYO7B for domains About GeneDecksing

5/10 InterPro domains/families (see all 10):

IPR019748 FERM_central

IPR011511 SH3_2

IPR000857 MyTH4_dom

IPR000048 IQ_motif_EF-hand-BS

IPR019749 Band_41_domain

Graphical View of Domain Structure for InterPro Entry Q6PIF6

ProtoNet protein and cluster: Q6PIF6

1 Blocks protein family: IPB011511 Variant SH3

UniProtKB/Swiss-Prot: MYO7B_HUMAN, Q6PIF6

Similarity: Contains 2 FERM domains

Similarity: Contains 6 IQ domains

Similarity: Contains 1 myosin head-like domain

Similarity: Contains 3 MyTH4 domains

Similarity: Contains 2 SH3 domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MYO7B_HUMAN, Q6PIF6

Function: Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to

bind to membranous compartments, which would be moved relative to actin filaments. May be have a role in the apical

membranes of transporting epithelia (By similarity)

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003774	motor activity	IEA	--
GO:0003779	actin binding	IEA	--
GO:0005524	ATP binding	IEA	--

MYO7B for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for MYO7B:

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MYO7B

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO7B

(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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MYO7B

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for MYO7B (Q6PIF6³ ENSP00000415090⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBE2A	P49459³	I2D: score=5
USH1C	ENSP00000005226⁴	STRING: ENSP00000005226

About this table

(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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MYO7B
Search CenterWatch for drugs/clinical trials and news about MYO7B

(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, Sirion Biotech, 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 MYO7B gene:

NM_001080527.1

Unigene Clusters for MYO7B:

Myosin VIIB

Hs.154578 [show with all ESTs], Hs.677195 [show with all ESTs]

Unigene Representative Sequences: NM_001080527, AK023543

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000409816 ENST00000563538 ENST00000437387 ENST00000496841(uc002toq.1 uc002tor.1)

ENST00000409090 ENST00000491278(uc002tos.2) ENST00000494959 ENST00000389524

ENST00000428314(uc002top.3)

miRNA Products:		OriGene 3'-UTR Clone: MYO7B Browse OriGene MicroRNA Expression Plasmids
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MYO7B (see all 4) OriGene shRNA RFP: MYO7B OriGene siRNA: MYO7B
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Additional cDNA sequence: AK023543.1

9 DOTS entries:

DT.438636 DT.100747341 DT.91883126 DT.95359378 DT.100704228 DT.100759946 DT.120946301 DT.95246660

DT.100666151

24/43 AceView cDNA sequences (see all 43):

CR600379 BC035615 BM562862 AK074183 BC051761 AL531836 BX366922 BX101340

AA354490 BX479327 BG392573 BQ706172 BX482415 AL564188 BX362114 BM910880

AI869908 BM152514 BQ707731 BQ072688 AA311914 BQ711990 BM818288 BX362115

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for MYO7B About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	^	8a	·	8b	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^
SP1:
SP2:
SP3:
SP4:
SP5:

ExUns:	20	^	21	^	22	^	23
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for MYO7B

(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

MYO7B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGCCCCCCA

About this image

MYO7B expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Gut Tube

Midgut

Gut Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MYO7B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYO7B

SOURCE GeneReport for Unigene clusters: Hs.154578 Hs.677195

SABiosciences Custom PCR Arrays for MYO7B

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In Situ
Assay Products:

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(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 animals.

Orthologs for MYO7B gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MYO7B¹	myosin VIIB	66.84(n) 63.57(a)		424751 XM_003641743.1 XP_003641791.1
lizard (Anolis carolinensis)	Reptilia	MYO7B⁶	--	59(a)	1 ↔ 1	3(36132720-36190208)
zebrafish (Danio rerio)	Actinopterygii	si:ch73-194h10.2⁶ myo7bb⁶	myosin VIIBb	51(a) 49(a)	1 ↔ many 1 ↔ many	6(27760206-27819932) 2(22338706-22385207)
fruit fly (Drosophila melanogaster)	Insecta	ck⁶ Myo28B1⁶	Myo28B1	48(a) 39(a)	many ↔ many many ↔ many	2L(15044963-15057848) 2L(7666047-7689459)
worm (Caenorhabditis elegans)	Secernentea	hum-6⁶	Unconventional myosin heavy chain 6	45(a)	1 → many	X(2303074-2315390)

ENSEMBL Gene Tree for MYO7B (if available)
TreeFam Gene Tree for MYO7B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MYO7B gene

MYO3A² MYO9A² MYO5C² MYO10² MYO15A² MYO7A² MYO9B² MYO16²

MYO5A² MYO5B² MYO6² MYO3B²

18/22 SIMAP similar genes for MYO7B using alignment to 5 protein entries: MYO7B_HUMAN (see all proteins) (see all similar genes):

MYO7A DKFZp686A08248 MYH11 MYH9 MYO5C MYO1E

MYH10 FLJ00395 MYO1A MYO1F variant protein MYO5B MYO1B

MYO1C MYO1H MYO1D MYO1F MYO19 MYH1

MYO7B for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs183445279^1,2		--	128291402(+)	`ACCACC/TGCTTG`	1	--	us2k¹		0	--	--	--	--
rs146940661^1,2		--	128291403(+)	`CCACCA/GCTTGG`	1	--	us2k¹		0	--	--	--	--
rs137884909^1,2		--	128291430(+)	`AGGTCC/GATGTT`	1	--	us2k¹		0	--	--	--	--
rs149496765^1,2		--	128291547(+)	`TCTGAC/TTGGCT`	1	--	us2k¹		0	--	--	--	--
rs188497488^1,2		--	128291575(+)	`AAGGAC/TGACCA`	1	--	us2k¹		0	--	--	--	--
rs59974203^1,2		--	128291648(+)	`CACCCT/GCCTTC`	1	--	us2k¹		2		CSA	3
rs148562692^1,2		--	128291673(+)	`ATGAGC/GTCCCC`	1	--	us2k¹		0	--	--	--	--
rs115146819^1,2	F	--	128291841(+)	`CAGGTA/GCCCTC`	1	--	us2k¹		1		WA	118
rs142908047^1,2		--	128291861(+)	`TTGTTG/TTCTGA`	1	--	us2k¹		0	--	--	--	--
rs146160048^1,2		--	128291985(+)	`GACTCC/TGTCTG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MYO7B (128293378 - 128395304 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for MYO7B
5 CNVs: 50277 30102 50278 30103 50279
Human Gene Mutation Database (HGMD): MYO7B

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MYO7B

DNA2.0 Custom Variant and Variant Library Synthesis for MYO7B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MYO7B for disorders           About GeneDecksing

OMIM gene information: 606541    OMIM disorders: --

4 diseases for MYO7B:    About MalaCards

usher syndrome hepatitis b kidney disease hepatitis

Human Genome Epidemiology (HuGE) Navigator: MYO7B (4 documents)

Export disorders for MYO7B gene to outside databases

(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

PubMed articles for MYO7B gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with MYO7B)

Utopia: connect your pdf to the dynamic
world of online information

Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types. (PubMed id 8022818)^{1, 2, 3} Bement W.M....Mooseker M.S. (1994)
Mapping of unconventional myosins in mouse and human. (PubMed id 8884266)^{1, 3} Hasson T.... Jenkins N.A. (1996)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)¹ Davila S....Seielstad M. (2010)
Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)¹ Oguri M....Yamada Y. (2010)
Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)¹ Yoshida T....Yamada Y. (2010)
Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)¹ Yoshida T....Yamada Y. (2009)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4648	HGNC: 7607	AceView: MYO7B	Ensembl:ENSG00000169994	euGenes: HUgn4648
ECgene: MYO7B	H-InvDB: MYO7B

(According to HUGE)
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(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 MYO7B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MYO7B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MYO7B gene:
Search GeneIP for patents involving MYO7B

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
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