Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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]

16 Show/Hide all (16)

miRTarBase ID	miRNA	Experiments
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

8 Show/Hide all (8)

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

MIM	HGNC	e!Ensembl
619807	30434	ENSG00000221986

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
PF00041	fn3	147 → 231	Fibronectin type III domain	Domain
PF07679	I-set	261 → 350	Immunoglobulin I-set domain	Domain
PF07679	I-set	57 → 142	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

Interactions

View interactions

KEGG Pathway
Cytoskeleton in muscle cells

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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. Show/Hide Unknown Diseases (17)
Adrenocortical carcinoma, hereditary	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	35764056	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	35764056	★★★★★ ★★☆☆☆ 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

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrial Standstill	Atrial standstill	Pubtator	31292467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	33772052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	20839009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MYBPHL (myosin binding protein H like)

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