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Aliases for IGHMBP2 Gene

Aliases for IGHMBP2 Gene

  • Immunoglobulin Mu Binding Protein 2 2 3
  • SMUBP2 3 4 6
  • Immunoglobulin Mu-Binding Protein 2 3 4
  • Cardiac Transcription Factor 1 2 3
  • ATP-Dependent Helicase IGHMBP2 3 4
  • Glial Factor 1 3 4
  • SMARD1 3 6
  • CATF1 3 6
  • GF-1 3 4
  • HMN6 3 6
  • Zinc Finger, AN1-Type Domain 7 3
  • DNA-Binding Protein SMUBP-2 3
  • AN1-Type Domain 7 2
  • Zinc Finger 2
  • EC 3.6.4.12 4
  • EC 3.6.4.13 4
  • EC 3.6.1 63
  • ZFAND7 3
  • CMT2S 3
  • SMBP2 4
  • HCSA 3

External Ids for IGHMBP2 Gene

Previous GeneCards Identifiers for IGHMBP2 Gene

  • GC11P071194
  • GC11P070367
  • GC11P068446
  • GC11P068427
  • GC11P068671
  • GC11P065011

Summaries for IGHMBP2 Gene

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 charcot-marie-tooth disease, axonal, type 2s and neuronopathy, distal hereditary motor, type vi. GO annotations related to this gene include RNA binding and single-stranded DNA binding.

UniProtKB/Swiss-Prot for IGHMBP2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGHMBP2 Gene

Genomics for IGHMBP2 Gene

Regulatory Elements for IGHMBP2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for IGHMBP2 Gene

Start:
68,903,842 bp from pter
End:
68,940,602 bp from pter
Size:
36,761 bases
Orientation:
Plus strand

Genomic View for IGHMBP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IGHMBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGHMBP2 Gene

Proteins for IGHMBP2 Gene

  • Protein details for IGHMBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P38935-SMBP2_HUMAN
    Recommended name:
    DNA-binding protein SMUBP-2
    Protein Accession:
    P38935
    Secondary Accessions:
    • A0PJD2
    • Q00443
    • Q14177

    Protein attributes for IGHMBP2 Gene

    Size:
    993 amino acids
    Molecular mass:
    109149 Da
    Quaternary structure:
    • Homooligomer. Interacts with RUVBL1, RUVBL2, GTF3C1 and ABT1. Is part of large cytosolic ribonucleoprotein complexes (Probable). Associates with the ribosomes.

    Three dimensional structures from OCA and Proteopedia for IGHMBP2 Gene

neXtProt entry for IGHMBP2 Gene

Proteomics data for IGHMBP2 Gene at MOPED

Post-translational modifications for IGHMBP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IGHMBP2 Gene

Domains for IGHMBP2 Gene

Gene Families for IGHMBP2 Gene

HGNC:
  • ZFAND :Zinc fingers, AN1-type domain containing

Suggested Antigen Peptide Sequences for IGHMBP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P38935

UniProtKB/Swiss-Prot:

SMBP2_HUMAN :
  • P38935
Domain:
  • Contains 1 R3H domain.
Family:
  • Belongs to the DNA2/NAM7 helicase family.
Similarity:
  • Contains 1 AN1-type zinc finger.
genes like me logo Genes that share domains with IGHMBP2: view

Function for IGHMBP2 Gene

Molecular function for IGHMBP2 Gene

GENATLAS Biochemistry: immunoglobulin mu,binding protein 2
UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for IGHMBP2 Gene

Gene Ontology (GO) - Molecular Function for IGHMBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IDA 19299493
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IDA 19158098
GO:0003678 DNA helicase activity TAS 8349627
GO:0003697 single-stranded DNA binding TAS 8349627
genes like me logo Genes that share ontologies with IGHMBP2: view
genes like me logo Genes that share phenotypes with IGHMBP2: view

Animal Model Products

CRISPR Products

miRNA for IGHMBP2 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for IGHMBP2 Gene

Localization for IGHMBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGHMBP2 Gene

Nucleus. Cytoplasm. Cell projection, axon. Note=Colocalizes with the translation initiation factor EIF4G2. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IGHMBP2 Gene COMPARTMENTS Subcellular localization image for IGHMBP2 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for IGHMBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19299493
GO:0005737 cytoplasm IDA 19299493
GO:0016020 membrane IDA 19946888
GO:0030424 axon ISS --
GO:0030426 growth cone ISS --
genes like me logo Genes that share ontologies with IGHMBP2: view

Pathways for IGHMBP2 Gene

SuperPathways for IGHMBP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IGHMBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006260 DNA replication TAS 8493094
GO:0006281 DNA repair TAS 8493094
GO:0006310 DNA recombination TAS 8349627
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with IGHMBP2: view

No data available for Pathways by source for IGHMBP2 Gene

Transcripts for IGHMBP2 Gene

Unigene Clusters for IGHMBP2 Gene

Immunoglobulin mu binding protein 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IGHMBP2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IGHMBP2 Gene

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: -
SP6: - - - -
SP7: - -
SP8: - -
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:

ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b · 19c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - -
SP12:
SP13: -
SP14:

Relevant External Links for IGHMBP2 Gene

GeneLoc Exon Structure for
IGHMBP2
ECgene alternative splicing isoforms for
IGHMBP2

Expression for IGHMBP2 Gene

mRNA expression in normal human tissues for IGHMBP2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IGHMBP2 Gene

SOURCE GeneReport for Unigene cluster for IGHMBP2 Gene Hs.503048

mRNA Expression by UniProt/SwissProt for IGHMBP2 Gene

P38935-SMBP2_HUMAN
Tissue specificity: Expressed in all tissues examined. Expressed in the developing and adult human brain, with highest expression in the cerebellum. Moderately expressed in fibroblasts.
genes like me logo Genes that share expressions with IGHMBP2: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for IGHMBP2 Gene

Orthologs for IGHMBP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IGHMBP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IGHMBP2 35
  • 98.72 (n)
  • 98.59 (a)
IGHMBP2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IGHMBP2 35
  • 81.2 (n)
  • 80.82 (a)
IGHMBP2 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IGHMBP2 35
  • 82.96 (n)
  • 82.96 (a)
IGHMBP2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ighmbp2 35
  • 79.03 (n)
  • 79.1 (a)
Ighmbp2 16
Ighmbp2 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IGHMBP2 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGHMBP2 36
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ighmbp2 35
  • 79.29 (n)
  • 79.18 (a)
chicken
(Gallus gallus)
Aves IGHMBP2 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IGHMBP2 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ighmbp2 35
  • 63.03 (n)
  • 64.98 (a)
Str.12258 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5947 35
zebrafish
(Danio rerio)
Actinopterygii ighmbp2 35
  • 59.71 (n)
  • 60.48 (a)
ighmbp2 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30094 36
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea eri-7 36
  • 26 (a)
OneToOne
Y106G6D.5 37
  • 30 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL098C 35
  • 49.27 (n)
  • 40.65 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HCS1 35
  • 45.33 (n)
  • 38.54 (a)
HCS1 36
  • 35 (a)
OneToOne
HCS1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E18085g 35
  • 46.14 (n)
  • 39.43 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G03270 35
  • 49.95 (n)
  • 46.96 (a)
rice
(Oryza sativa)
Liliopsida Os.9254 35
Os03g0586900 35
  • 50.16 (n)
  • 46.78 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07395 35
  • 50.19 (n)
  • 46.09 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC737.07c 35
  • 46.1 (n)
  • 41.19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for IGHMBP2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IGHMBP2 Gene

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

Paralogs for IGHMBP2 Gene

No data available for Paralogs for IGHMBP2 Gene

Variants for IGHMBP2 Gene

Sequence variations from dbSNP and Humsavar for IGHMBP2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs9095 -- 68,940,412(+) CGTGG(A/C/T)TGTCC utr-variant-3-prime
rs9769 -- 68,940,396(+) TGAGC(C/G/T)GGCTC utr-variant-3-prime
rs478062 -- 68,923,351(+) gcatg(C/T)gctac intron-variant
rs478647 -- 68,932,956(-) ccgag(A/G)ggaga intron-variant
rs483626 -- 68,917,387(-) CGAAT(A/G)GAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IGHMBP2 Gene

Variant ID Type Subtype PubMed ID
nsv428261 CNV Gain 18775914
nsv509423 CNV Insertion 20534489
nsv897867 CNV Loss 21882294
esv2676821 CNV Deletion 23128226
esv2744668 CNV Deletion 23290073

Relevant External Links for IGHMBP2 Gene

HapMap Linkage Disequilibrium report
IGHMBP2
Human Gene Mutation Database (HGMD)
IGHMBP2
Locus Specific Mutation Databases (LSDB)
IGHMBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGHMBP2 Gene

Disorders for IGHMBP2 Gene

(1) OMIM Diseases for IGHMBP2 Gene (600502)

UniProtKB/Swiss-Prot

SMBP2_HUMAN
  • 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. {ECO:0000269 PubMed:11528396, ECO:0000269 PubMed:14681881, ECO:0000269 PubMed:15108294, ECO:0000269 PubMed:15290238, ECO:0000269 PubMed:15797190, ECO:0000269 PubMed:17431882, ECO:0000269 PubMed:18802676}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2S (CMT2S) [MIM:616155]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269 PubMed:25439726}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for IGHMBP2 Gene

(5) Novoseek inferred disease relationships for IGHMBP2 Gene

Disease -log(P) Hits PubMed IDs
smard1 99.3 27
muscular atrophy spinal 89.6 11
respiratory failure 71.6 5
paralysis 67.2 1
renal disease 4.53 1

Relevant External Links for IGHMBP2

Genetic Association Database (GAD)
IGHMBP2
Human Genome Epidemiology (HuGE) Navigator
IGHMBP2
genes like me logo Genes that share disorders with IGHMBP2: view

Publications for IGHMBP2 Gene

  1. A recombinant cDNA derived from human brain encodes a DNA binding protein that stimulates transcription of the human neurotropic virus JCV. (PMID: 1714899) Kerr D. … Khalili K. (J. Biol. Chem. 1991) 3 4 23
  2. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). (PMID: 14681881) Grohmann K. … Huebner C. (Ann. Neurol. 2003) 3 4 23
  3. Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1. (PMID: 15290238) Guenther U.P. … Varon R. (Hum. Genet. 2004) 3 4 23
  4. Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy. (PMID: 15599641) Ohtsubo S. … Nakamura Y. (J. Hum. Genet. 2005) 3 23 48
  5. A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1. (PMID: 15797190) Tachi N. … Nogami A. (Pediatr. Neurol. 2005) 3 4 23

Products for IGHMBP2 Gene

  • antibodies-online peptides for IGHMBP2
  • antibodies-online antibodies for IGHMBP2
  • antibodies-online kits for IGHMBP2

Sources for IGHMBP2 Gene

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