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Gene: IGHMBP2 (immunoglobulin mu DNA binding protein 2) Homo sapiens
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Symbol: IGHMBP2
Name: immunoglobulin mu DNA binding protein 2
Description: Exhibits several functions, including ATP binding activity; ATPase activity, coupled; and nucleic acid binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Localizes to the cytoplasm and nucleoplasm. Implicated in Charcot-Marie-Tooth disease axonal type 2S and distal spinal muscular atrophy 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP-dependent helicase IGHMBP2; cardiac transcription factor 1; CATF1; CMT2S; DNA-binding protein SMUBP-2; FLJ34220; FLJ41171; GF-1; glial factor 1; HCSA; HMN6; immunoglobulin mu binding protein 2; immunoglobulin mu-binding protein 2; SMARD1; SMUBP2; ZFAND7; zinc finger, AN1-type domain 7
Orthologs:
Mus musculus (house mouse) : Ighmbp2 (immunoglobulin mu binding protein 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ighmbp2 (immunoglobulin mu DNA binding protein 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ighmbp2 (immunoglobulin mu DNA binding protein 2)
Pan paniscus (bonobo/pygmy chimpanzee) : IGHMBP2 (immunoglobulin mu DNA binding protein 2)
Canis lupus familiaris (dog) : IGHMBP2 (immunoglobulin mu DNA binding protein 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ighmbp2 (immunoglobulin mu DNA binding protein 2)
Sus scrofa (pig) : IGHMBP2 (immunoglobulin mu DNA binding protein 2)
Chlorocebus sabaeus (green monkey) : IGHMBP2 (immunoglobulin mu DNA binding protein 2)
Heterocephalus glaber (naked mole-rat) : Ighmbp2 (immunoglobulin mu DNA binding protein 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1168,903,842 - 68,940,602 (+)Ensembl
GRCh381168,903,855 - 68,940,601 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371168,671,319 - 68,708,070 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361168,427,895 - 68,464,645 (+)NCBINCBI36hg18NCBI36
Build 341168,427,947 - 68,464,635NCBI
Celera1166,010,833 - 66,047,528 (+)NCBI
Cytogenetic Map11q13.3NCBI
HuRef1165,010,080 - 65,046,857 (+)NCBIHuRef
CHM1_11168,554,758 - 68,591,518 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on IGHMBP2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 68450
Created: 2001-07-11
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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