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] See more...

Aliases for IGHMBP2 Gene

Aliases for IGHMBP2 Gene

  • Immunoglobulin Mu DNA Binding Protein 2 2 3 5
  • SMUBP2 2 3 4
  • Immunoglobulin Mu Binding Protein 2 2 3
  • Cardiac Transcription Factor 1 2 3
  • Zinc Finger, AN1-Type Domain 7 2 3
  • ATP-Dependent Helicase IGHMBP2 3 4
  • DNA-Binding Protein SMUBP-2 3 4
  • Glial Factor 1 3 4
  • SMARD1 2 3
  • ZFAND7 2 3
  • CATF1 2 3
  • CMT2S 2 3
  • HCSA 2 3
  • HMN6 2 3
  • GF-1 3 4
  • Immunoglobulin Mu-Binding Protein 2 4
  • EC 3.6.4.12 4
  • EC 3.6.4.13 4
  • EC 3.6.1 50
  • IGHMBP2 5
  • SMBP2 4

External Ids for IGHMBP2 Gene

Previous GeneCards Identifiers for IGHMBP2 Gene

  • GC11P071194
  • GC11P070367
  • GC11P068921
  • 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 DNA Binding Protein 2) is a Protein Coding gene. Diseases associated with IGHMBP2 include Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 and Charcot-Marie-Tooth Disease, Axonal, Type 2E. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is SETX.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGHMBP2 Gene

Genomics for IGHMBP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IGHMBP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGHMBP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IGHMBP2

Top Transcription factor binding sites by QIAGEN in the IGHMBP2 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • c-Ets-1
  • C/EBPalpha
  • HNF-4alpha1
  • Pax-5
  • STAT1beta

Genomic Locations for IGHMBP2 Gene

Latest Assembly
chr11:68,903,855-68,940,602
(GRCh38/hg38)
Size:
36,748 bases
Orientation:
Plus strand

Previous Assembly
chr11:68,671,359-68,708,069
(GRCh37/hg19 by Entrez Gene)
Size:
36,711 bases
Orientation:
Plus strand

chr11:68,671,310-68,708,070
(GRCh37/hg19 by Ensembl)
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

Selected DME Specific Peptides for IGHMBP2 Gene

P38935:
  • HGEVRTAFEYLDDIVPENY
  • YRLLKLANDVTY
  • LTVQYRM
  • ISREGVLYAGSGT
  • LLELERDAEVEERRSWQE
  • QSKGNPGEVRLV
  • SQKEAVSFAL
  • LHIQALVDAGV
  • GHPARLL
  • IKLLRKEL
  • DECAQALEASCWIPLLKA
  • TTLGQFC
  • LKKYHSGP
  • VVLATNTGAS
  • PYNLQVDLLRQSL

Post-translational modifications for IGHMBP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for IGHMBP2 Gene

Gene Families for IGHMBP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for IGHMBP2 Gene

InterPro:
Blocks:
  • Zn-finger, AN1-like
  • Single-stranded nucleic acid binding R3H

Suggested Antigen Peptide Sequences for IGHMBP2 Gene

GenScript: Design optimal peptide antigens:
  • Immunoglobulin mu-binding protein 2 (SMBP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P38935

UniProtKB/Swiss-Prot:

SMBP2_HUMAN :
  • Belongs to the DNA2/NAM7 helicase family.
Family:
  • Belongs to the DNA2/NAM7 helicase family.
genes like me logo Genes that share domains with IGHMBP2: view

Function for IGHMBP2 Gene

Molecular function for IGHMBP2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;.
GENATLAS Biochemistry:
immunoglobulin mu,binding protein 2

Enzyme Numbers (IUBMB) for IGHMBP2 Gene

Phenotypes From GWAS Catalog for IGHMBP2 Gene

Gene Ontology (GO) - Molecular Function for IGHMBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA,IDA 19299493
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IDA 19158098
GO:0003678 DNA helicase activity TAS 8349627
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGHMBP2

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IGHMBP2 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IGHMBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 19299493
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IDA 19299493
GO:0016020 membrane HDA 19946888
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with IGHMBP2: view

Pathways & Interactions for IGHMBP2 Gene

PathCards logo

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:0006281 DNA repair TAS 8493094
GO:0006310 DNA recombination TAS 8349627
GO:0006412 translation NAS 19299493
GO:0032508 DNA duplex unwinding IEA --
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

(3) Drugs for IGHMBP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with IGHMBP2: view

Transcripts for IGHMBP2 Gene

mRNA/cDNA for IGHMBP2 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
51 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGHMBP2

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

Expression for IGHMBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for IGHMBP2 Gene



Protein tissue co-expression partners for IGHMBP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IGHMBP2

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.

Evidence on tissue expression from TISSUES for IGHMBP2 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGHMBP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • epiglottis
  • face
  • head
  • larynx
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • vocal cord
Thorax:
  • bronchus
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
  • sternum
  • trachea
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • prostate
  • rectum
  • urinary bladder
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with IGHMBP2: view

Primer products for research

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 29 30
  • 98.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IGHMBP2 29 30
  • 82.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IGHMBP2 29 30
  • 81.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ighmbp2 29
  • 79.29 (n)
Mouse
(Mus musculus)
Mammalia Ighmbp2 29 16 30
  • 79.03 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IGHMBP2 30
  • 57 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IGHMBP2 30
  • 44 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IGHMBP2 30
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IGHMBP2 30
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ighmbp2 29
  • 63.03 (n)
Str.12258 29
Zebrafish
(Danio rerio)
Actinopterygii ighmbp2 29 30
  • 59.71 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5947 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG30094 30
  • 33 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y106G6D.5 31
  • 30 (a)
eri-7 30
  • 26 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACL098C 29
  • 49.27 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E18085g 29
  • 46.14 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HCS1 29 30 32
  • 45.33 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G03270 29
  • 49.95 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0586900 29
  • 50.16 (n)
Os.9254 29
Bread mold
(Neurospora crassa)
Ascomycetes NCU07395 29
  • 50.19 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC737.07c 29
  • 46.1 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 46 (a)
OneToOne
Species where no ortholog for IGHMBP2 was found in the sources mined by GeneCards:
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IGHMBP2: view image
Alliance of Genome Resources:
Additional Orthologs for IGHMBP2

Paralogs for IGHMBP2 Gene

Paralogs for IGHMBP2 Gene

genes like me logo Genes that share paralogs with IGHMBP2: view

Variants for IGHMBP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGHMBP2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1002204 Uncertain Significance: Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 68,936,561(+) G/A
NM_002180.3(IGHMBP2):c.2081G>A (p.Arg694Gln)
MISSENSE
1002798 Uncertain Significance: Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 68,936,702(+) A/G
NM_002180.3(IGHMBP2):c.2222A>G (p.Lys741Arg)
MISSENSE
1004849 Uncertain Significance: Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 68,936,854(+) G/A
NM_002180.3(IGHMBP2):c.2374G>A (p.Ala792Thr)
MISSENSE
1005021 Uncertain Significance: Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 68,939,570(+) C/A
NM_002180.3(IGHMBP2):c.2821C>A (p.Arg941=)
SYNONYMOUS
1010128 Uncertain Significance: Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 68,936,290(+) G/A
NM_002180.3(IGHMBP2):c.1810G>A (p.Ala604Thr)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IGHMBP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2676821 CNV deletion 23128226
esv2744668 CNV deletion 23290073
esv3579736 CNV loss 25503493
nsv1046306 CNV gain 25217958
nsv1129517 CNV tandem duplication 24896259
nsv428261 CNV gain 18775914
nsv509423 CNV insertion 20534489

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)

Additional Variant Information for IGHMBP2 Gene

Human Gene Mutation Database (HGMD)
IGHMBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGHMBP2
Leiden Open Variation Database (LOVD)
IGHMBP2

SNP Genotyping and Copy Number Assays for research

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

Disorders for IGHMBP2 Gene

MalaCards: The human disease database

(38) MalaCards diseases for IGHMBP2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

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:17431882, ECO:0000269 PubMed:18802676, ECO:0000269 PubMed:19158098}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for IGHMBP2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IGHMBP2: view

No data available for Genatlas for IGHMBP2 Gene

Publications for IGHMBP2 Gene

  1. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. (PMID: 25439726) Cottenie E … Houlden H (American journal of human genetics 2014) 3 4 72
  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 PH (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2010) 3 22 40
  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 UP … Schuelke M (Journal of molecular medicine (Berlin, Germany) 2009) 3 4 22
  4. Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. (PMID: 19299493) de Planell-Saguer M … Mourelatos Z (Human molecular genetics 2009) 3 4 22
  5. IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). (PMID: 19158098) Guenther UP … Fischer U (Human molecular genetics 2009) 3 4 22

Products for IGHMBP2 Gene

Sources for IGHMBP2 Gene