IGHMBP2 [The Human Chemical-Genetic Interaction Map Project]

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======= IGHMBP2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: IGHMBP2
  * **<color #00a2e8>Official Name</color>**: immunoglobulin mu DNA binding protein 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3508|3508]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P38935|P38935]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=IGHMBP2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20IGHMBP2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/600502|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver- type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5'-GGGCT-3' motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV. {ECO:0000250, ECO:0000269|PubMed:19158098, ECO:0000269|PubMed:19299493}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|R3H|
|ResIII|
|zf-AN1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|5-3 RNA helicase activity|
|RNA-dependent ATPase activity|
|5-3 DNA helicase activity|
|DNA-dependent ATPase activity|
|ribosome binding|
|DNA helicase activity|
|tRNA binding|
|single-stranded DNA binding|
|DNA duplex unwinding|
|DNA geometric change|
|growth cone|
|ribonucleoprotein complex|
|DNA replication|
|DNA recombination|
|axon|
|DNA conformation change|
|transcription factor binding|
|protein homooligomerization|
|translation|
|peptide biosynthetic process|
|DNA repair|
|protein complex oligomerization|
|amide biosynthetic process|
|peptide metabolic process|
|DNA metabolic process|
|cellular response to DNA damage stimulus|
|cellular amide metabolic process|
|zinc ion binding|
|negative regulation of transcription by RNA polymerase II|
|chromosome organization|
|negative regulation of transcription, DNA-templated|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|negative regulation of RNA metabolic process|
|negative regulation of cellular macromolecule biosynthetic process|
|RNA binding|
|organonitrogen compound biosynthetic process|
|negative regulation of nucleobase-containing compound metabolic process|
|DNA binding|
|negative regulation of macromolecule biosynthetic process|
|ATP binding|
|negative regulation of cellular biosynthetic process|
|negative regulation of biosynthetic process|
|protein-containing complex assembly|
|cellular nitrogen compound biosynthetic process|
|cellular response to stress|
|cellular macromolecule biosynthetic process|
|negative regulation of gene expression|
|macromolecule biosynthetic process|
|protein-containing complex subunit organization|
|membrane|
|gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp209|Deguelin 0.15μM R05 exp209]]|-1.76|
|[[:results:exp145|PNU96415E 10μM R03 exp145]]|-1.7|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|1/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 10237
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.92 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='IGHMBP2 Expression in NALM6 Cells: 4.92'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>