MYBPHL (myosin binding protein H like)

Gene

• Entrez ID: 343263
• Gene name: Myosin binding protein H like
• Gene symbol: MYBPHL
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1p13.3
• Summary: This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1167688	hsa-miR-2277-3p	CLIP-seq
MIRT1167689	hsa-miR-3120-3p	CLIP-seq
MIRT1167690	hsa-miR-4435	CLIP-seq
MIRT1167691	hsa-miR-545	CLIP-seq
MIRT2048390	hsa-miR-1197	CLIP-seq
MIRT2048391	hsa-miR-1224-5p	CLIP-seq
MIRT2048392	hsa-miR-1229	CLIP-seq
MIRT2048393	hsa-miR-3915	CLIP-seq
MIRT2048394	hsa-miR-4448	CLIP-seq
MIRT2048395	hsa-miR-4689	CLIP-seq
MIRT2048396	hsa-miR-4751	CLIP-seq
MIRT2048390	hsa-miR-1197	CLIP-seq
MIRT2048391	hsa-miR-1224-5p	CLIP-seq
MIRT2048393	hsa-miR-3915	CLIP-seq
MIRT2048395	hsa-miR-4689	CLIP-seq
MIRT2048396	hsa-miR-4751	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0008150	Process	Biological_process	ND
GO:0030017	Component	Sarcomere	IEA
GO:0036379	Component	Myofilament	IDA	28778945
GO:0036379	Component	Myofilament	IEA

Other IDs

• MIM: 619807
• HGNC: 30434
• e!Ensembl: ENSG00000221986

Protein

• UniProt ID: A2RUH7
• Protein name: Myosin-binding protein H-like
• Protein function: Myosin-binding protein which plays a role in cardiac function (PubMed:28778945). Seems to regulate conduction in the atria and ventricular conduction systems (PubMed:28778945).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	57 → 142	Immunoglobulin I-set domain	Domain
  PF00041	fn3	147 → 231	Fibronectin type III domain	Domain
  PF07679	I-set	261 → 350	Immunoglobulin I-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, with higher expression in the atria. {ECO:0000269|PubMed:28778945, ECO:0000269|PubMed:31292467}.; TISSUE SPECIFICITY: [Isoform 1]: Expressed in left atrium and ventricle, arteria mammaria interna and skeletal muscle
• Sequence:

  MEAATAPEVAAGSKLKVKEASPADAEPPQASPGQGAGSPTPQLLPPIEEHPKIWLPRALR
  QTYIRKVGDTVNLLIPFQGKPKPQAIWTHDGCALDTRRVSVRNGEQDSILFIREAQRADS
  GRYQLRVQLGGLEATATIDILVIERPGPPQSIKLVDVWGFSATLEWTPPQDTGNTALLGY
  TVQKADTKSGLWFTVLEHYHRTSCIVSDLIIGNSYAFRVFAENQCGLSETAPITTDLAHI
  QKAATVYKTKGFAQRDFSEAPKFTQPLADCTTVTGYNTQLFCCVRASPRPKIIWLKNKMD
  IQGNPKYRALTHLGICSLEIRKPGPFDGGIYTCKAVNPLGEASVDCRVDVKVPN

• Sequence length: 354

Pathways

KEGG:

Cytoskeleton in muscle cells

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-immune hydrops fetalis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Atrial Standstill	Associate	31292467	★☆☆☆☆ Found in Text Mining only
Emanuel syndrome	Associate	33772052	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	33772052	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Associate	20839009	★☆☆☆☆ Found in Text Mining only