Gene: IGHMBP2 (immunoglobulin mu binding protein 2)  Homo sapiens

Symbol: IGHMBP2
Name: immunoglobulin mu binding protein 2
Description: This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP-dependent helicase IGHMBP2; cardiac transcription factor 1; CATF1; DNA-binding protein SMUBP-2; FLJ34220; FLJ41171; GF-1; glial factor 1; HCSA; HMN6; immunoglobulin mu-binding protein 2; OTTHUMP00000237202; SMARD1; SMUBP2; ZFAND7; zinc finger, AN1-type domain 7
Orthologs: Mus musculus : Ighmbp2 (immunoglobulin mu binding protein 2)  MGI
Rattus norvegicus : Ighmbp2 (immunoglobulin mu binding protein 2)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_11168,593,611 - 68,630,423+NCBI
Human Genome Assembly HuRef1165,010,080 - 65,046,857+NCBI
Human Genome Assembly GRCh371168,671,319 - 68,708,069+NCBI
Human Genome Assembly Build 361168,427,895 - 68,464,645+NCBI
Human Cytogenetic Map11q13.3 NCBI
Human Genome Assembly1168,427,947 - 68,464,635 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on IGHMBP2
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 68450
Created: 2001-07-11
Species: Homo sapiens
Last Modified: 2013-03-26
Status: ACTIVE