MYBPH (myosin binding protein H)

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Gene Gene information from NCBI Gene database.
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Entrez ID 4608
Gene name Myosin binding protein H
Gene symbol MYBPH
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q32.1
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT018947 hsa-miR-335-5p Microarray 18185580
MIRT1167681 hsa-miR-214 CLIP-seq
MIRT1167682 hsa-miR-3180 CLIP-seq
MIRT1167683 hsa-miR-3180-3p CLIP-seq
MIRT1167684 hsa-miR-3196 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22085929, 23414517
GO:0006942 Process Regulation of striated muscle contraction TAS 8486381
GO:0007155 Process Cell adhesion IEA
GO:0008307 Function Structural constituent of muscle IEA
GO:0008307 Function Structural constituent of muscle TAS 8486381
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
160795 7552 ENSG00000133055
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13203
Protein name Myosin-binding protein H (MyBP-H) (H-protein)
Protein function Binds to myosin; probably involved in interaction with thick myofilaments in the A-band.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00041 fn3 268 → 351 Fibronectin type III domain Domain
PF00041 fn3 72 → 157 Fibronectin type III domain Domain
PF07679 I-set 382 → 471 Immunoglobulin I-set domain Domain
PF07679 I-set 175 → 263 Immunoglobulin I-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in the skeletal muscle. Slightly expressed in the left atrium and arteria mammaria interna. {ECO:0000269|PubMed:28778945, ECO:0000269|PubMed:31292467}.
Sequence
Sequence length 477
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway
Cytoskeleton in muscle cells
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Familial cancer of breast Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (29)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22085929, 23068101
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 24184715
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 24184715 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33492284 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 33980985 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Disease Coronary artery disease Pubtator 27091178 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 27818278
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 29367943
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 35087137, 36193073 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 29367943
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for MYBPH.

No additional diseases found yet through genes similar to MYBPH.