MYBPC2 - myosin binding protein C2 Gene

Homo sapiens

Also known as MYBPC; MYBPCF; fsMyBP-C

Gene ID: 4606 | Gene type: protein coding

About MYBPC2

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,432,892-50,466,321 (from NCBI)

This gene has 2 transcripts (splice variants), 260 orthologues and 11 paralogues. Biased expression in prostate (RPKM 9.2), esophagus (RPKM 2.3) and 2 other tissues.

Summary

This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]

MYBPC2 Products(1)

mRNA	Protein	Name
NM_004533.4	NP_004524.3	myosin-binding protein C, fast-type

MYBPC2 Protein Structure

I-set

fn3

I-set

fn3

I-set

0
200
400
600
800
1000
1141 a.a.

Protein Preferred Names

Protein Names

myosin-binding protein C, fast-type

fast MyBP-C

Related Diseases

Diseases

Alias

Lethal Congenital Contracture Syndrome 4

LCCS4

Contracture Syndrome, Lethal, Congenital, Type 4

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Nemaline Myopathy 9

NEM9	Myopathy, Nemaline, Type 9

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Arthrogryposis, Distal, Type 2a

Freeman-Sheldon Syndrome	Craniocarpotarsal Dystrophy
Craniocarpotarsal Dysplasia	DA2A
Whistling Face-Windmill Vane Hand Syndrome	Fss
Distal Arthrogryposis Type 2a	Whistling Face Syndrome
Freeman-Burian Syndrome	Arthrogryposis Distal Type 2a
Distal Arthrogryposis, Type 2a	Fbs
Arthrogryposis, Distal, 2a

Arthrogryposis, Distal, Type 5

Oculomelic Amyoplasia	Distal Arthrogryposis Type 5
Distal Arthrogryposis Type Iib	DA5
Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities	Daiib
Distal Arthrogryposis Type 2b	Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Distal Arthrogryposis With Ophthalmoplegia	Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome
Arthrogryposis, Distal, Type Iib	Da2b
Freeman-Sheldon Syndrome Variant	Sheldon-Hall Syndrome
Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities	Arthrogryposis Ophthalmoplegia Retinopathy
Arthrogryposis, Distal, 5	Arthrogryposis, Distal, Type 2b

Lethal Congenital Contracture Syndrome 2

LCCS2	Lethal Congenital Contractural Syndrome 2
Multiple Contracture Syndrome, Israeli-Bedouin Type	Multiple Contracture Syndrome, Israeli Bedouin Type A
Multiple Contracture Syndrome, Israeli Bedouin Type	Lethal Congenital Contracture Syndrome Type 2
Israeli Bedouin Multiple Contracture Syndrome Type A	Contracture Syndrome, Lethal, Congenital, Type 2

Hemochromatosis, Type 2b

Hemochromatosis Type 2b	HFE2B
Hemochromatosis 2b

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Cardiomyopathy, Familial Hypertrophic, 4

Hypertrophic Cardiomyopathy 4	CMH4
Cardiomyopathy, Hypertrophic, 4	Cardiomyopathy, Familial Hypertrophic 4
Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To	Cardiomyopathy, Hypertrophic, Familial, Type 4

Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1	Digitotalar Dysmorphism
DA1A	Da1
Amcd1	Arthrogryposis, Distal, Type 2b4
Distal Arthrogryposis Type 1a	Arthrogryposis, Distal, Type 1
Arthrogryposis Multiplex Congenita Distal Type 1	Arthrogryposis Multiplex Congenita, Distal Type 1
Arthrogryposis Multiplex Congenita, Distal, Type I	Distal Arthrogryposis Type 1b
Arthrogryposis, Distal, 1a	Amc
Arthrogryposis Multiplex Congenita	Arthrogryposis, Distal, 2b4
DA2B4	Arthrogryposis Multiplex Congenita, Distal, Type 1
Arthrogryposis

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08874	MYBPC2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MYBPC2	VGNC	VGNC:57354
Mus musculus	MYBPC2	MGD	MGI:1336170
Canis familiaris	MYBPC2	VGNC	VGNC:43523
Rattus norvegicus	MYBPC2	RGD	RGD:1311596
Felis catus	MYBPC2	VGNC	VGNC:68374

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