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Aliases for IGHMBP2 Gene

Aliases for IGHMBP2 Gene

  • Immunoglobulin Mu Binding Protein 2 2 3 5
  • Immunoglobulin Mu-Binding Protein 2 3 4
  • Cardiac Transcription Factor 1 2 3
  • ATP-Dependent Helicase IGHMBP2 3 4
  • Glial Factor 1 3 4
  • SMUBP2 3 4
  • GF-1 3 4
  • Zinc Finger, AN1-Type Domain 7 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
  • SMARD1 3
  • ZFAND7 3
  • CATF1 3
  • CMT2S 3
  • SMBP2 4
  • HCSA 3
  • HMN6 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 Neuronopathy, Distal Hereditary Motor, Type Vi and Charcot-Marie-Tooth Disease, Axonal, Type 2S. GO annotations related to this gene include nucleic acid binding and hydrolase activity.

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

Enhancers for IGHMBP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IGHMBP2 on UCSC Golden Path with GeneCards custom track

Promoters for IGHMBP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IGHMBP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for IGHMBP2 Gene

Chromosome:
11
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

Genes around IGHMBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGHMBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for IGHMBP2 Gene

Gene Families for IGHMBP2 Gene

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 :
  • Contains 1 R3H domain.
  • Belongs to the DNA2/NAM7 helicase family.
  • Contains 1 AN1-type zinc finger.
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 IEA --
GO:0003677 DNA binding IEA,IDA 19158098
GO:0003697 single-stranded DNA binding TAS 8349627
GO:0003723 RNA binding IDA 19158098
genes like me logo Genes that share ontologies with IGHMBP2: view
genes like me logo Genes that share phenotypes with IGHMBP2: view

Human Phenotype Ontology for IGHMBP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for IGHMBP2 Gene

No data available for Animal Models , Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for IGHMBP2 Gene

Pathways & Interactions 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:0006260 DNA replication TAS 8493094
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006412 translation NAS 19299493
genes like me logo Genes that share ontologies with IGHMBP2: view

No data available for Pathways by source and SIGNOR curated interactions for IGHMBP2 Gene

Drugs & Compounds for IGHMBP2 Gene

(1) Drugs for IGHMBP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for IGHMBP2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with IGHMBP2: view

Transcripts for IGHMBP2 Gene

Unigene Clusters for IGHMBP2 Gene

Immunoglobulin mu binding protein 2:
Representative Sequences:

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

Protein differential expression in normal tissues from HIPED for IGHMBP2 Gene

This gene is overexpressed in Lung (35.5) and Nasal epithelium (31.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with IGHMBP2: view

Protein tissue co-expression partners for IGHMBP2 Gene

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia IGHMBP2 35
  • 98.72 (n)
  • 98.59 (a)
IGHMBP2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ighmbp2 35
  • 79.29 (n)
  • 79.18 (a)
oppossum
(Monodelphis domestica)
Mammalia IGHMBP2 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGHMBP2 36
  • 44 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii ighmbp2 35
  • 59.71 (n)
  • 60.48 (a)
ighmbp2 36
  • 56 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5947 35
fruit fly
(Drosophila melanogaster)
Insecta CG30094 36
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y106G6D.5 37
  • 30 (a)
eri-7 36
  • 26 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL098C 35
  • 49.27 (n)
  • 40.65 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E18085g 35
  • 46.14 (n)
  • 39.43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HCS1 35
  • 45.33 (n)
  • 38.54 (a)
HCS1 36
  • 35 (a)
OneToOne
HCS1 38
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
rs622082 - 68,936,491(+) CTGCT(A/G)CGTCC nc-transcript-variant, reference, missense
rs2236654 - 68,936,560(-) CTTCC(A/G)GCCCT nc-transcript-variant, reference, missense
rs2275996 - 68,938,352(+) TGCCC(A/G)AGGTA nc-transcript-variant, reference, missense
VAR_022321 Neuronopathy, distal hereditary motor, 6 (HMN6)
VAR_022322 Neuronopathy, distal hereditary motor, 6 (HMN6)

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

Variation tolerance for IGHMBP2 Gene

Residual Variation Intolerance Score: 93.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.36; 85.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IGHMBP2 Gene

Human Gene Mutation Database (HGMD)
IGHMBP2

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

Disorders for IGHMBP2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for IGHMBP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuronopathy, distal hereditary motor, type vi
  • spinal muscular atrophy with respiratory distress 1
charcot-marie-tooth disease, axonal, type 2s
  • ar-cmt2
spinal muscular atrophy
  • juvenile spinal muscular atrophy
charcot-marie-tooth disease, type 2e
  • charcot-marie-tooth disease, axonal, type 2s
charcot-marie-tooth hereditary neuropathy
  • charcot-marie-tooth disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SMBP2_HUMAN
  • 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.
  • 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.

Relevant External Links for IGHMBP2

Genetic Association Database (GAD)
IGHMBP2
Human Genome Epidemiology (HuGE) Navigator
IGHMBP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IGHMBP2
genes like me logo Genes that share disorders with IGHMBP2: view

No data available for Genatlas for IGHMBP2 Gene

Publications for IGHMBP2 Gene

  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. (PMID: 8349627) Fukita Y. … Honjo T. (J. Biol. Chem. 1993) 2 3 4 67
  2. Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients. (PMID: 20031928) Lou T. … Maxwell P.H. (Nephrol. Dial. Transplant. 2010) 3 23
  3. 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. (PMID: 18802676) Guenther U.P. … Schuelke M. (J. Mol. Med. 2009) 3 23
  4. Interfamilial phenotypic heterogeneity in SMARD1. (PMID: 19157874) Joseph S. … Wraige E. (Neuromuscul. Disord. 2009) 3 23
  5. IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). (PMID: 19158098) Guenther U.P. … Fischer U. (Hum. Mol. Genet. 2009) 3 23

Products for IGHMBP2 Gene

Sources for IGHMBP2 Gene

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