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IGHMBP2 Gene

protein-coding   GIFtS: 60
GCID: GC11P068671

Immunoglobulin Mu Binding Protein 2

  See IGHMBP2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Immunoglobulin Mu Binding Protein 21 2     AN1-Type Domain 71
SMUBP22 3 5     Zinc Finger1
Cardiac Transcription Factor 11 2     HCSA2
Glial Factor 12 3     ZFAND72
Immunoglobulin Mu-Binding Protein 22 3     DNA-Binding Protein SMUBP-22
GF-12 3     Zinc Finger, AN1-Type Domain 72
ATP-Dependent Helicase IGHMBP22 3     EC 3.6.4.123
CATF12 5     EC 3.6.4.133
HMN62 5     SMBP23
SMARD12 5     EC 3.6.18

External Ids:    HGNC: 55421   Entrez Gene: 35082   Ensembl: ENSG000001327407   OMIM: 6005025   UniProtKB: P389353   

Export aliases for IGHMBP2 gene to outside databases

Previous GC identifers: GC11P071194 GC11P070367 GC11P068921 GC11P068446 GC11P068427 GC11P065011


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IGHMBP2 Gene:
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)

GeneCards Summary for IGHMBP2 Gene:
IGHMBP2 (immunoglobulin mu binding protein 2) is a protein-coding gene. Diseases associated with IGHMBP2 include progressive multifocal leukoencephalopathy, and spinal muscular atrophy with respiratory distress 1. GO annotations related to this gene include single-stranded DNA binding and RNA binding.

UniProtKB/Swiss-Prot: SMBP2_HUMAN, P38935
Function: 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

Gene Wiki entry for IGHMBP2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IGHMBP2 gene promoter:
         AhR   Pax-5   AML1a   STAT1beta   Arnt   C/EBPalpha   c-Ets-1   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIGHMBP2 promoter sequence
   Search Chromatin IP Primers for IGHMBP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IGHMBP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.3   Ensembl cytogenetic band:  11q13.3   HGNC cytogenetic band: 11q13.3

IGHMBP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGHMBP2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P068671:  view genomic region     (about GC identifiers)

Start:
68,671,310 bp from pter      End:
68,708,070 bp from pter
Size:
36,761 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SMBP2_HUMAN, P38935 (See protein sequence)
Recommended Name: DNA-binding protein SMUBP-2  
Size: 993 amino acids; 109149 Da
Subunit: Homooligomer. Interacts with RUVBL1, RUVBL2, GTF3C1 and ABT1. Is part of large cytosolic
ribonucleoprotein complexes (Probable). Associates with the ribosomes
4 PDB 3D structures from and Proteopedia for IGHMBP2:
1MSZ (3D)        2LRR (3D)        4B3F (3D)        4B3G (3D)    
Secondary accessions: A0PJD2 Q00443 Q14177

Explore the universe of human proteins at neXtProt for IGHMBP2: NX_P38935

Explore proteomics data for IGHMBP2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for IGHMBP2 (P38935) (see all 15)
     GHPARLL  TTLGQFC  LTVQYRM  IKLLRKEL 


    See IGHMBP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002171.2  
    ENSEMBL proteins: 
     ENSP00000255078   ENSP00000443343   ENSP00000440465   ENSP00000456366  

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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for IGHMBP2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZFAND: Zinc fingers, AN1-type domain containing

    Selected InterPro protein domains (see all 7):
     IPR000058 Znf_AN1
     IPR001374 R3H_ss-bd
     IPR004483 DNA_helicase_put
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry P38935

    ProtoNet protein and cluster: P38935

    2 Blocks protein domains:
    IPB000058 Zn-finger
    IPB001374 Single-stranded nucleic acid binding R3H


    UniProtKB/Swiss-Prot: SMBP2_HUMAN, P38935
    Similarity: Belongs to the DNA2/NAM7 helicase family
    Similarity: Contains 1 AN1-type zinc finger
    Similarity: Contains 1 R3H domain


    Find genes that share domains with IGHMBP2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMBP2_HUMAN, P38935
    Function: 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
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for IGHMBP2:
    immunoglobulin mu,binding protein 2

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding IDA19299493
    GO:0000166nucleotide binding ----
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IDA19158098
    GO:0003678DNA helicase activity TAS8349627
         
    Find genes that share ontologies with IGHMBP2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for IGHMBP2:
     Decreased p24 protein expressi  Upregulation of Wnt/beta-caten 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ighmbp2):
     behavior/neurological  cardiovascular system  digestive/alimentary  growth/size/body  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  respiratory system 

    Find genes that share phenotypes with IGHMBP2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IGHMBP2
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    miRTarBase miRNAs that target IGHMBP2:
    hsa-mir-26b-5p (MIRT028922), hsa-let-7b-5p (MIRT052253), hsa-mir-18a-3p (MIRT040925), hsa-mir-18a-5p (MIRT050680), hsa-mir-877-3p (MIRT037182)

    Block miRNA regulation of human, mouse, rat IGHMBP2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate IGHMBP2:
    hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidIGHMBP2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGHMBP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SMBP2_HUMAN, P38935: Nucleus. Cytoplasm. Cell projection, axon (By similarity). Note=Colocalizes with the
    traslation initiation factor EIF4G2 (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19299493
    GO:0005737cytoplasm IDA19299493
    GO:0030424axon ISS--
    GO:0030426growth cone ISS--
    GO:0030529ribonucleoprotein complex ISS--

    Find genes that share ontologies with IGHMBP2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IGHMBP2
    Interactions:

        Search GeneGlobe Interaction Network for IGHMBP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for IGHMBP2 (P389353 ENSP000002550784) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BTKQ061873, ENSP000003081764I2D: score=2 STRING: ENSP00000308176
    LSM8O957773, ENSP000002492994I2D: score=4 STRING: ENSP00000249299
    NAA10P412273I2D: score=1 
    PCNAP120043I2D: score=1 
    PLAAQ9Y2633I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA19158098
    GO:0006260DNA replication TAS8493094
    GO:0006281DNA repair TAS8493094
    GO:0006310DNA recombination TAS8349627
    GO:0006351transcription, DNA-templated IEA--

    Find genes that share ontologies with IGHMBP2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IGHMBP2 (SMBP2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IGHMBP2 gene: 
    NM_002180.2  

    Unigene Cluster for IGHMBP2:

    Immunoglobulin mu binding protein 2
    Hs.503048  [show with all ESTs]
    Unigene Representative Sequence: AB208802
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000255078(uc001ooj.1 uc001ook.1 uc001ool.1) ENST00000544541
    ENST00000539224 ENST00000545146 ENST00000568742 ENST00000536803 ENST00000539064(uc001oom.1)
    ENST00000537458 ENST00000543739 ENST00000541229 ENST00000545475 ENST00000544521

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    1 qRT-PCR Assays for microRNA that regulate IGHMBP2:
    hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidIGHMBP2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat IGHMBP2
      QuantiFast Probe-based Assays in human, mouse, rat IGHMBP2

    Additional mRNA sequence: 

    AB208802.1 AF052128.1 AK091539.1 AK123166.1 AK312565.1 BC000290.2 BC015666.2 BC025299.1 
    BC041808.1 BC052278.1 BC062312.1 BC080519.1 BC105088.1 BC105090.1 BC131818.1 L14754.1 
    M64979.1 

    10 DOTS entries:

    DT.100749799  DT.101962691  DT.75196797  DT.413851  DT.40106122  DT.100654522  DT.120694099  DT.100749800 
    DT.40252031  DT.40106121 

    Selected AceView cDNA sequences (see all 144):

    AA954070 BQ186662 F26966 BF313906 AI245628 BC025299 BE018285 BC052278 
    AA160861 BC080519 BQ219904 BQ721964 BE018828 BC015666 BQ883917 AA476922 
    AI097170 AF052128 BF204233 BG332810 AW074025 BU844569 BM715635 BQ694477 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IGHMBP2 (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^
    SP1:                          -                                               -           -     -     -     -                 -           -     -               
    SP2:                                                                                                                          -           -     -               
    SP3:                                                                                            -     -     -                                                   
    SP4:                          -                 -     -                                                                                                         
    SP5:                          -                                                                                                                                 

    ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b · 19c
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for IGHMBP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IGHMBP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCAGCAAGA
    IGHMBP2 Expression
    About this image

    IGHMBP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IGHMBP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.503048

    UniProtKB/Swiss-Prot: SMBP2_HUMAN, P38935
    Tissue specificity: Expressed in all tissues examined

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IGHMBP2 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ighmbp21 , 5 immunoglobulin mu binding protein 21, 5 79.03(n)1
    79.1(a)1
      19 (3.03 cM)5
    205891  NM_009212.21  NP_033238.21 
     32609245 
    chicken
    (Gallus gallus)
    Aves IGHMBP26
    immunoglobulin mu binding protein 2
    66(a)
    1 ↔ 1
    5(1452080-1486584) ENSGALG00000004328
    lizard
    (Anolis carolinensis)
    Reptilia IGHMBP26
    immunoglobulin mu binding protein 2
    62(a)
    1 ↔ 1
    1(76130458-76226611)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.122582 Transcribed sequence with weak similarity to protein more 71.05(n)    BX709003.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ighmbp21 immunoglobulin mu binding protein 2 59.71(n)
    60.48(a)
      556484  NM_001044900.1  NP_001038365.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG300946
    --
    33(a)
    1 ↔ 1
    2R(12029737-12030443)
    worm
    (Caenorhabditis elegans)
    Secernentea Y106G6D.53   -- 30(a)   I(10127617-10130132)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HCS1(YKL017C)4
    HCS11
    Hexameric DNA polymerase alpha-associated DNA helicase more4
    HCS11
    45.33(n)1
    38.54(a)1
      11(407241-405190)4
    8538521, 4  NP_012908.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G032701 AT2G03270 49.95(n)
    46.96(a)
      814856  NM_126378.3  NP_565299.1 
    rice
    (Oryza sativa)
    Liliopsida Os.92542 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.06(n)    AK099721.1 


    ENSEMBL Gene Tree for IGHMBP2 (if available)
    TreeFam Gene Tree for IGHMBP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IGHMBP2 (see all 1130)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs176121261,2,,4
    C,F,HNeuronopathy, distal hereditary motor, 6 (HMN6)4 --68628028(+) GCCCAC/AGGAGG 2 /K /T mis1 ese329Minor allele frequency- A:0.21NA EA NS CSA EU 8691
    rs1476746151,2,,4
    C,FNeuronopathy, distal hereditary motor, 6 (HMN6)4 --68629493(+) CTGGAT/GAAGAA 2 /E /D mis11Minor allele frequency- G:0.00NA 4180
    VAR_0585014
    Neuronopathy, distal hereditary motor, 6 (HMN6)4--see VAR_0585012 W R mis40--------
    VAR_0223254
    Neuronopathy, distal hereditary motor, 6 (HMN6)4--see VAR_0223252 E K mis40--------
    VAR_0584974
    Neuronopathy, distal hereditary motor, 6 (HMN6)4--see VAR_0584972 L P mis40--------
    VAR_0223344
    Neuronopathy, distal hereditary motor, 6 (HMN6)4--see VAR_0223342 V I mis40--------
    VAR_0223374
    Neuronopathy, distal hereditary motor, 6 (HMN6)4--see VAR_0223372 R H mis40--------
    VAR_0585064
    Neuronopathy, distal hereditary motor, 6 (HMN6)4--see VAR_0585062 R C mis40--------
    VAR_0223284
    Neuronopathy, distal hereditary motor, 6 (HMN6)4--see VAR_0223282 E K mis40--------
    VAR_0223214
    Neuronopathy, distal hereditary motor, 6 (HMN6)4--see VAR_0223212 L P mis40--------

    HapMap Linkage Disequilibrium report for IGHMBP2 (68671310 - 68708070 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for IGHMBP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676821CNV Deletion23128226
    esv2744668CNV Deletion23290073
    nsv509423CNV Insertion20534489
    nsv897867CNV Loss21882294
    nsv428261CNV Gain18775914

    Human Gene Mutation Database (HGMD): IGHMBP2
    Locus Specific Mutation Databases (LSDB): IGHMBP2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IGHMBP2
    DNA2.0 Custom Variant and Variant Library Synthesis for IGHMBP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600502   
    OMIM disorders: 604320  
    UniProtKB/Swiss-Prot: SMBP2_HUMAN, P38935
  • Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]: A neuromuscular disorder. Distal hereditary
    motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration
    of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The
    overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical
    sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal
    compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs
    and/or to the distal upper limbs. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 4 diseases for IGHMBP2:    
    About MalaCards
    progressive multifocal leukoencephalopathy    spinal muscular atrophy with respiratory distress 1    kidney hypertrophy    respiratory failure

    3 diseases from the University of Copenhagen DISEASES database for IGHMBP2:
    Muscular atrophy     Motor neuron disease     Respiratory failure

    Find genes that share disorders with IGHMBP2           About GenesLikeMe

    5 Novoseek inferred disease relationships for IGHMBP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    smard1 99.3 39 19157874 (5), 15290238 (4), 17236770 (4), 15108294 (3) (see all 12)
    muscular atrophy spinal 89.6 16 19157874 (2), 15269181 (2), 18263757 (1), 19299493 (1) (see all 9)
    respiratory failure 71.6 8 19157874 (2), 14506069 (1), 15108294 (1), 17431882 (1)
    paralysis 67.2 2 19157874 (1)
    renal disease 4.53 1 15599641 (1)

    Genetic Association Database (GAD): IGHMBP2
    Human Genome Epidemiology (HuGE) Navigator: IGHMBP2 (5 documents)

    Export disorders for IGHMBP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IGHMBP2 gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with IGHMBP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human S mu bp-2, a DNA-binding protein specific to the single- stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. (PubMed id 8349627)1, 2, 3 Fukita Y.... Honjo T. (J. Biol. Chem. 1993)
    2. IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). (PubMed id 19158098)1, 2, 9 Guenther U.P.... Fischer U. (Hum. Mol. Genet. 2009)
    3. Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. (PubMed id 19299493)1, 2, 9 de Planell-Saguer M....Mourelatos Z. (Hum. Mol. Genet. 2009)
    4. Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients. (PubMed id 20031928)1, 4, 9 Lou T....Maxwell P.H. (Nephrol. Dial. Transplant. 2010)
    5. A recombinant cDNA derived from human brain encodes a DNA binding protein that stimulates transcription of the human neurotropic virus JCV. (PubMed id 1714899)1, 2, 9 Kerr D. and Khalili K. (J. Biol. Chem. 1991)
    6. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. (PubMed id 18802676)1, 2, 9 Guenther U.P.... Schuelke M. (J. Mol. Med. 2009)
    7. Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy. (PubMed id 15599641)1, 4, 9 Ohtsubo S....Nakamura Y. (J. Hum. Genet. 2005)
    8. A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1. (PubMed id 15797190)1, 2, 9 Tachi N.... Nogami A. (Pediatr. Neurol. 2005)
    9. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). (PubMed id 14681881)1, 2, 9 Grohmann K.... Huebner C. (Ann. Neurol. 2003)
    10. IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk. (PubMed id 16752224)1, 4, 9 Shen J....Santella R.M. (Breast Cancer Res. Treat. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3508 HGNC: 5542 AceView: IGHMBP2 Ensembl:ENSG00000132740 euGenes: HUgn3508
    ECgene: IGHMBP2 H-InvDB: IGHMBP2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IGHMBP2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IGHMBP2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=IGHMBP2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IGHMBP2 gene:
    Search GeneIP for patents involving IGHMBP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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