MYH7B (myosin heavy chain 7B)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
57644 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Myosin heavy chain 7B |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
MYH7B |
SynonymsGene synonyms aliases
|
MHC14, MYH14, lncMYH7b |
ChromosomeChromosome number
|
20 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
20q11.22 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, whic |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs764950910 |
->CGGGC |
Pathogenic |
Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant |
rs771172991 |
AG>- |
Pathogenic |
Splice donor variant, coding sequence variant |
rs1050997719 |
G>A,C |
Pathogenic |
Splice donor variant, intron variant, genic upstream transcript variant, upstream transcript variant |
rs1417887060 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1430282035 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1600462474 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1600477808 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1600480573 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
A7E2Y1 |
Protein name |
Myosin-7B (Antigen MLAA-21) (Myosin cardiac muscle beta chain) (Myosin heavy chain 7B, cardiac muscle beta isoform) (Slow A MYH14) |
Protein function |
Involved in muscle contraction. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02736 |
Myosin_N |
74 → 114 |
Myosin N-terminal SH3-like domain |
Domain |
PF00063 |
Myosin_head |
128 → 815 |
Myosin head (motor domain) |
Domain |
PF01576 |
Myosin_tail_1 |
892 → 1973 |
Myosin tail |
Coiled-coil |
|
Sequence |
|
Sequence length |
1983 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Hypoplastic left heart syndrome |
HYPOPLASTIC LEFT HEART SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2 |
rs1554284604, rs1843006535 |
26965164 |
Left ventricular noncompaction |
Left ventricular noncompaction |
rs121913654, rs730880850, rs386134243, rs397515482, rs138110910, rs730880336, rs730880856, rs794729390, rs886037900, rs1114167338, rs1555338658 |
23800289 |
Melanoma |
melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 |
28212542, 18488026 |
|
|
|
| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412 |