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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.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J109305 | Promoter/Enhancer | 1.9 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 250.7 | +2.4 | 2351 | 2.8 | CEBPA IKZF1 HES1 MBD2 ZIC2 CEBPB VEZF1 NBN SMAD4 SAP130 | MYBPHL lnc-SORT1-3 SYPL2 ENSG00000258634 ENSG00000228665 PRPF38B RPL17P7 GNAI3 WDR47 PSRC1 | |
GH01J109309 | Enhancer | 0.6 | Ensembl dbSUPER | 250.7 | -0.2 | -207 | 1.2 | FOXA2 POLR2A JUND HNF4A SP1 ATF3 | MYBPHL MN308771 SORT1 | |
GH01J109308 | Enhancer | 0.3 | ENCODE dbSUPER | 250.7 | +0.7 | 749 | 0.1 | MYBPHL lnc-SORT1-3 PSRC1 | ||
GH01J109314 | Enhancer | 0.2 | dbSUPER | 250.7 | -1.9 | -1949 | 0.3 | MYBPHL MN308771 SORT1 | ||
GH01J109389 | Promoter/Enhancer | 2.7 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 11.1 | -85.0 | -84988 | 10.5 | CHD2 TBP SP1 MXD4 FOXA1 MNT IKZF1 SMAD5 IRF2 HES1 | SORT1 SYPL2 PRPF38B PSRC1 ENSG00000258634 ENSG00000273373 MYBPHL STRIP1 SARS1 AMIGO1 |
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:0005737 | cytoplasm | IEA | -- |
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 |
---|---|---|---|---|---|
994289 | Uncertain Significance: none provided | 109,296,338(-) |
G/A NM_001010985.3(MYBPHL):c.763C>T (p.Arg255Ter) |
NONSENSE | |
rs796052188 | Likely Benign: Long QT syndrome | 109,297,145(-) |
C/T NM_001010985.3(MYBPHL):c.475G>A (p.Gly159Ser) |
MISSENSE | |
rs629001 | - |
p.Asp269Asn |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3587150 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dilated cardiomyopathy |
|
|