Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: MBNL3 (muscleblind like splicing regulator 3) Homo sapiens
Analyze
Symbol: MBNL3
Name: muscleblind like splicing regulator 3
Description: This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CHCR; Cys3His CCG1-required protein; FLJ11316; FLJ97142; MBLX; MBLX39; MBXL; muscleblind-like 3; muscleblind-like protein 3; muscleblind-like splicing regulator 3; muscleblind-like X-linked protein
Orthologs:
Mus musculus (house mouse) : Mbnl3 (muscleblind like splicing factor 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Mbnl3 (muscleblind-like splicing regulator 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mbnl3 (muscleblind like splicing regulator 3)
Pan paniscus (bonobo/pygmy chimpanzee) : MBNL3 (muscleblind like splicing regulator 3)
Canis lupus familiaris (dog) : MBNL3 (muscleblind like splicing regulator 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mbnl3 (muscleblind like splicing regulator 3)
Sus scrofa (pig) : MBNL3 (muscleblind like splicing regulator 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X132,369,314 - 132,490,030 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X131,503,342 - 131,624,063 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X131,339,858 - 131,401,399 (-)NCBINCBI36hg18NCBI36
CeleraX131,889,747 - 132,010,400 (-)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX120,905,795 - 121,027,169 (-)NCBIHuRef
CHM1_1X131,414,910 - 131,535,546 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on MBNL3
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1603984
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.