Free for academic non-profit institutions. Other users need a Commercial license
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]
MYBPHL (Myosin Binding Protein H Like) is a Protein Coding gene. Diseases associated with MYBPHL include Dilated Cardiomyopathy. An important paralog of this gene is MYBPH.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030017 | sarcomere | IEA | -- |
GO:0036379 | myofilament | IDA | 28778945 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0008150 | biological_process | ND | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MYBPHL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MYBPHL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYBPHL 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mybphl 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mybphl 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | MYBPH 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
African clawed frog (Xenopus laevis) |
Amphibia | MGC64588 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.5437 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mybpha 31 |
|
ManyToMany | |
mybphb 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs796052188 | Likely Benign: Long QT syndrome | 109,297,145(-) | C/T | MISSENSE_VARIANT | |
rs629001 | - | p.Asp269Asn |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3587150 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dilated cardiomyopathy |
|
|