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MYBPC2 myosin binding protein C2 [ Homo sapiens (human) ]

Gene ID: 4606, updated on 28-Nov-2021

Summary

Official Symbol
MYBPC2provided by HGNC
Official Full Name
myosin binding protein C2provided by HGNC
Primary source
HGNC:HGNC:7550
See related
Ensembl:ENSG00000086967 MIM:160793
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MYBPC; MYBPCF; fsMyBP-C
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]
Expression
Biased expression in prostate (RPKM 9.2), esophagus (RPKM 2.3) and 2 other tissues See more
Orthologs
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Genomic context

See MYBPC2 in Genome Data Viewer
Location:
19q13.33
Exon count:
28
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (50432892..50466321)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50936149..50969578)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene DNA polymerase delta 1, catalytic subunit Neighboring gene Spi-B transcription factor Neighboring gene golgi associated RAB2 interactor 5A Neighboring gene ER membrane protein complex subunit 10 Neighboring gene Josephin domain containing 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163408

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle contraction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in myosin filament IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myosin-binding protein C, fast-type
Names
fast MyBP-C
fast skeletal-type muscle myosin-binding-protein C
fast-type muscle myosin-binding-protein C
myosin binding protein C, fast type
testicular tissue protein Li 126

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028026.1 RefSeqGene

    Range
    4990..38419
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004533.4NP_004524.3  myosin-binding protein C, fast-type

    See identical proteins and their annotated locations for NP_004524.3

    Status: REVIEWED

    Source sequence(s)
    AA086285, AC020909, BC130536, CF553029
    Consensus CDS
    CCDS46152.1
    UniProtKB/Swiss-Prot
    Q14324
    UniProtKB/TrEMBL
    A0A140VJQ0
    Related
    ENSP00000350332.4, ENST00000357701.6
    Conserved Domains (7) summary
    cd00096
    Location:10671132
    Ig; Immunoglobulin domain
    cd05748
    Location:857929
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    cd05894
    Location:550635
    Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
    smart00410
    Location:554635
    IG_like; Immunoglobulin like
    cd00063
    Location:639725
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:10481137
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:283330
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    50432892..50466321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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