IGHMBP2

GENE INFORMATION

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Gene name

IGHMBP2 (HGNC Symbol)

Synonyms

CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7

Description

immunoglobulin mu binding protein 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

11 (Chromosome progress)

Cytoband

q13.3

Chromosome location (bp)

68671310 - 68708070

Ensembl

ENSG00000132740 (version 73.37)

Entrez gene

3508

UniProt

P38935 (UniProt - Evidence at protein level)

neXtProt

NX_P38935

Antibodypedia

IGHMBP2 antibodies
 

PROTEIN VIEW

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IGHMBP2-001
 
IGHMBP2-005
 
IGHMBP2-006
 
IGHMBP2-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

IGHMBP2-001 ENSP00000255078
ENST00000255078
P38935
Show all »
Show » Show » 993 109.1 No 0
IGHMBP2-005 ENSP00000456366
ENST00000545146
H3BRR1
Show all »
Show » 91 10.1 No 0
IGHMBP2-006 ENSP00000443343
ENST00000544541
F5H5K3
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29 3.3 No 0
IGHMBP2-007 ENSP00000440465
ENST00000539224
F5GX64
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Show » 192 21.7 No 0