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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IGHMBP2 Gene

protein-coding   GIFtS: 59
GCID: GC11P068671

immunoglobulin mu binding protein 2
 Explore 17 diseases affiliated with
IGHMBP2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for IGHMBP2    

Aliases
for IGHMBP2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Immunoglobulin Mu Binding Protein 21 2     GF-12 3
SMUBP21 2 3 5     ATP-Dependent Helicase IGHMBP22 3
CATF11 2 5     Cardiac Transcription Factor 12
HMN61 2 5     DNA-Binding Protein SMUBP-22
SMARD11 2 5     Zinc Finger, AN1-Type Domain 72
HCSA1 2     EC 3.6.4.123
ZFAND71 2     EC 3.6.4.133
Glial Factor 12 3     SMBP23
Immunoglobulin Mu-Binding Protein 22 3     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


Summaries
for IGHMBP2 gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences 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 plasmid: IGHMBP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for IGHMBP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for IGHMBP2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Nucleus. Cytoplasm. Cell projection, axon (By similarity). Note=Colocalizes with the traslation
initiation factor EIF4G2 (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P38935

    • 4/15 DME Specific Peptides for IGHMBP2 (P38935) (see all 15)
     GHPARLL  TTLGQFC  LTVQYRM  IKLLRKEL 

    IGHMBP2 Protein expression data from MOPED and PaxDb:    About this image 
    IGHMBP2 Protein Expression
    REFSEQ proteins: NP_002171.2  
    ENSEMBL proteins: 
     ENSP00000255078   ENSP00000443343   ENSP00000440465   ENSP00000456366  

    Human Recombinant Protein Products for IGHMBP2: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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--

    IGHMBP2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for IGHMBP2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IGHMBP2 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR000058 Znf_AN1
     IPR003593 AAA+_ATPase
     IPR026853 SMUBP-2
     IPR004483 DNA_helicase_put
     IPR014001 Helicase_ATP-bd

    Graphical View of Domain Structure for InterPro Entry P38935

    ProtoNet protein and cluster: P38935

    2 Blocks protein families:
    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


    Function
    for IGHMBP2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 5/15 molecular function terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding IDA19299493
    GO:0003677DNA binding IDA19158098
    GO:0003678DNA helicase activity TAS8349627
    GO:0003697single-stranded DNA binding TAS8493094
    GO:0003702RNA polymerase II transcription factor activity ----
         
    IGHMBP2 for ontologies           About GeneDecksing


    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  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  respiratory system 

    IGHMBP2 for phenotypes           About GeneDecksing

    Animal Models:
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    Gene Editing
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    In Situ Assay
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    Pathways & Interactions
    for IGHMBP2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IGHMBP2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5/6 Interacting proteins for IGHMBP2 (P389353 ENSP000002550784) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NAA38O957773, ENSP000002492994I2D: score=4 STRING: ENSP00000249299
    BTKQ061873I2D: score=2 
    NAA10P412273I2D: score=1 
    PCNAP120043I2D: score=1 
    PLAAQ9Y2633I2D: score=1 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0006260DNA replication TAS8493094
    GO:0006281DNA repair TAS8493094
    GO:0006310DNA recombination TAS8349627
    GO:0006351transcription, DNA-dependent IEA--

    IGHMBP2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for IGHMBP2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for IGHMBP2
    Search CenterWatch for drugs/clinical trials and news about IGHMBP2 / SMBP2 

    Transcripts
    for IGHMBP2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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 QIAGEN miScript miRNA Assays for microRNA that regulate IGHMBP2:
    hsa-miR-32*
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    Inhib. RNA
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    Additional cDNA 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 

    24/144 AceView cDNA sequences (see all 144):

    BC025299 AI245628 AA476922 BC052278 AA954070 AA160861 BQ721964 BC080519 
    BE018828 BF313906 BE018285 BC015666 F26966 BQ219904 AI097170 BQ883917 
    BQ186662 BE264181 AW467023 BM701158 AL705592 BC041808 BU185167 BF883789 

    GeneLoc Exon Structure

    5/14 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

    Expression
    for IGHMBP2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IGHMBP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCAGCAAGA
    IGHMBP2 Expression
    About this image
    See IGHMBP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IGHMBP2

    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
    for IGHMBP2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IGHMBP2 gene from 8/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves IGHMBP26
    C4orf216
    		 Uncharacterized protein
    		 66(a)
    12(a)
    		 1 ↔ 1
    possible ortholog
    		 5(1469270-1504368)
    4(58673925-58689041)
    lizard
    (Anolis carolinensis)    		 Reptilia IGHMBP26
    C4orf216
    (see all 3)    		 --
    		 62(a)
    11(a)
    (see all 3)    		 1 ↔ 1
    possible ortholog
    (see all 3)    		 1(76130758-76226611)
    5(143005428-143031610)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.122582 Transcribed sequence with weak similarity to protein refNP_002171.1 (H.sapiens) immunoglobulin mu binding protein 2 [Homo sapiens] less 71.05(n)    BX709003.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii ighmbp2l1 immunoglobulin mu binding protein 2, like 59.04(n)
    58.66(a)    		   556484  NM_001044900.1  NP_001038365.1 
    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 A involved in lagging strand DNA synthesis; contains single-stranded DNA stimulated ATPase and dATPase activities; replication protein A stimulates helicase and ATPase activities less4
    Hcs1p1    		 45.31(n)1
    38.29(a)1    		   11(407241-405190)4
    8538521, 4  NP_012908.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G032701 putative DNA-binding protein 49.84(n)
    46.65(a)    		   814856  NM_126378.3  NP_565299.1 
    rice
    (Oryza sativa)    		 Liliopsida Os.92542 Oryza sativa (japonica cultivar-group) cDNA cloneJ013088F16, full insert sequence less 73.06(n)    AK099721.1 


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

    Paralogs
    for IGHMBP2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IGHMBP2 gene
    HELZ2  HELZ22  MOV10L12  MOV102  

    IGHMBP2 for paralogs           About GeneDecksing



    Genomic Variants
    for IGHMBP2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/884 NCBI SNPs in IGHMBP2 are shown (see all 884)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs779992491,2
    		C--65008570(+) AAGCAT/CACAAA 1 -- us2k12Minor allele frequency- C:0.21CSA WA 120
    rs1116109171,2
    		--65009046(+) ACCCCT/CCATGT 1 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs729178171,2
    		C--65009136(+) GGCTTC/TTTTTA 1 -- us2k10--------
    rs729178181,2
    		--65009402(+) ACTCAC/TGCACA 1 -- us2k10--------
    rs768858841,2
    		C,F--65009521(+) TTGCAG/AAATGA 1 -- us2k11Minor allele frequency- A:0.06WA 118
    rs572585661,2
    		C--65010114(+) ACCGGT/CCCGCT 1 -- ut512Minor allele frequency- C:0.09WA 120
    rs735229531,2
    		C,F--65010507(+) CGAGAC/TCCCCC 1 -- int13Minor allele frequency- T:0.15WA 122
    rs1119126831,2
    		--65010798(+) GCTTCG/AAGGAG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs4975301,2
    		C,F,H--65011663(+) GAGAAT/CGAAAC 1 -- int17Minor allele frequency- C:0.09NS EA WA 542
    rs71295131,2
    		C,F,A,H--65011863(+) TAGCTT/CTGCAT 1 -- int119Minor allele frequency- C:0.08NS EA NA CSA WA 1948

    HapMap Linkage Disequilibrium report for IGHMBP2 (68671310 - 68708070 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for IGHMBP2: --
    Human Gene Mutation Database (HGMD): IGHMBP2

    Locus Specific Mutation Databases (LSDB): IGHMBP2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IGHMBP2
    DNA2.0 Custom Variant and Variant Library Synthesis for IGHMBP2

    Disorders / Diseases
    for IGHMBP2 gene

    (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.)
    About This Section
    IGHMBP2 for disorders           About GeneDecksing

    OMIM gene information: 600502   
    OMIM disorders: 604320  
    UniProtKB/Swiss-Prot: SMBP2_HUMAN, P38935
  • Defects in IGHMBP2 are the cause of distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]; also
    • known as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratory
    distress 1 (SMARD1). 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. The most prominent symptoms of HMN6 are severe
    respiratory distress resulting from diaphragmatic paralysis with eventration shown on chest x-ray and predominant
    involvement of the upper limbs and distal muscles

    17 diseases for IGHMBP2:    About MalaCards
    spinal muscular atrophy with respiratory distress    spinal muscular atrophy with respiratory distress 1    spinal muscular atrophy    spinal cord disease
    progressive multifocal leukoencephalopathy    muscular atrophy    amyotrophic lateral sclerosis (als)    amyotrophic lateral sclerosis
    motor neuronopathy    lateral sclerosis    respiratory failure    mantle cell lymphoma
    myopathy    neuropathy    nephropathy    breast cancer
    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for IGHMBP2:
    Muscular atrophy     Spinal muscular atrophy     Respiratory failure     Distal hereditary motor neuropathy

    5 Novoseek 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

    Publications
    for IGHMBP2 gene

    (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)
    About This Section

    PubMed articles for IGHMBP2 gene, integrated from 9 sources (see all 50):
    (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. (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. (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. (2009)
    4. 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. (1991)
    5. 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. (2009)
    6. 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. (2005)
    7. 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. (2005)
    8. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). (PubMed id 14681881)1, 2, 9 Grohmann K.... Huebner C. (2003)
    9. Solution structure of the R3H domain from human Smubp-2. (PubMed id 12547203)1, 2 Liepinsh E.... Otting G. (2003)
    10. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. (PubMed id 11528396)1, 2 Grohmann K.... Huebner C. (2001)

    External Searches for IGHMBP2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing IGHMBP2 gene

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

    Other Databases showing IGHMBP2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing IGHMBP2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/IGHMBP2

    Intellectual Property
    for IGHMBP2 gene

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

    GeneCards and IP:
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    About This Section

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