Homo sapiens Gene: IGHMBP2
Summary
InnateDB Gene IDBG-61678.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IGHMBP2
Gene Name immunoglobulin mu binding protein 2
Synonyms CATF1; HCSA; HMN6; SMARD1; SMUBP2; ZFAND7
Species Homo sapiens
Ensembl Gene ENSG00000132740
Encoded Proteins
immunoglobulin mu binding protein 2
immunoglobulin mu binding protein 2
immunoglobulin mu binding protein 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:68903842-68940602
Strand Forward strand
Band q13.3
Transcripts
ENST00000255078 ENSP00000255078
ENST00000544541 ENSP00000443343
ENST00000539224 ENSP00000440465
ENST00000545146 ENSP00000456366
ENST00000536803
ENST00000539064
ENST00000537458
ENST00000543739
ENST00000541229
ENST00000545475
ENST00000544521
ENST00000568742
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000049 tRNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0003697 single-stranded DNA binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008094 DNA-dependent ATPase activity
GO:0008134 transcription factor binding
GO:0008186 RNA-dependent ATPase activity
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0032575 ATP-dependent 5'-3' RNA helicase activity
GO:0043022 ribosome binding
GO:0043141 ATP-dependent 5'-3' DNA helicase activity
Biological Process
GO:0006200 ATP catabolic process
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006412 translation
GO:0008219 cell death
GO:0032508 DNA duplex unwinding
GO:0051260 protein homooligomerization
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0030424 axon
GO:0030426 growth cone
GO:0030529 ribonucleoprotein complex
GO:0032797 SMN complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.604969
RefSeq NM_002180 XM_005273974
HUGO
OMIM
CCDS CCDS8187
HPRD 02736
IMGT
EMBL
GenPept
RNA Seq Atlas