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Aliases for IGHMBP2 Gene

Aliases for IGHMBP2 Gene

  • Immunoglobulin Mu Binding Protein 2 2 3 5
  • Cardiac Transcription Factor 1 2 3
  • Zinc Finger, AN1-Type Domain 7 2 3
  • ATP-Dependent Helicase IGHMBP2 3 4
  • Glial Factor 1 3 4
  • SMUBP2 3 4
  • GF-1 3 4
  • Immunoglobulin Mu-Binding Protein 2 4
  • DNA-Binding Protein SMUBP-2 3
  • EC 3.6.4.12 4
  • EC 3.6.4.13 4
  • EC 3.6.1 56
  • 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 Charcot-Marie-Tooth Disease, Axonal, Type 2E and Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is ZGRF1.

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

Additional gene information for IGHMBP2 Gene

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

Genomics for IGHMBP2 Gene

GeneHancer (GH) Regulatory Elements for IGHMBP2 Gene

Promoters and enhancers for IGHMBP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I068902 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 638.2 +0.5 484 2.7 ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 ZC3H11A ZFP41 ZNF610 IGHMBP2 MRPL21 ORAOV1 KMT5B MRGPRF-AS1 MRGPRF LOC105369364 PPP6R3 ENSG00000260808 ENSG00000261625
GH11I068836 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 68.3 -63.1 -63098 8.1 HDGF PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 CPT1A IGHMBP2 PPP6R3 MRGPRF-AS1 KMT5B ENSG00000261625 ORAOV1 MRGPRF ENSG00000260808 TPCN2
GH11I068854 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 79.5 -47.3 -47333 4.5 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 SP5 ZHX2 MXD4 REST IGHMBP2 LOC105369364 TESMIN MRPL21 CPT1A
GH11I068869 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 79.5 -33.6 -33565 1 HDAC1 BCOR CTCF TAL1 CDC5L RAD21 TEAD3 TCF12 GATA3 MTA3 LOC105369364 IGHMBP2 MRPL21 TESMIN MRGPRF MRGPRF-AS1 CPT1A
GH11I068954 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 81.8 +52.0 52002 2.1 CTCF HDAC1 MEIS2 KLF1 PKNOX1 ATF1 ETV1 MAX RAD21 CTBP1 IGHMBP2 MRPL21 TPCN2 ENSG00000255741 PIR43978
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IGHMBP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IGHMBP2 gene promoter:

Genomic Locations for IGHMBP2 Gene

Genomic Locations for IGHMBP2 Gene
chr11:68,903,842-68,940,602
(GRCh38/hg38)
Size:
36,761 bases
Orientation:
Plus strand
chr11:68,671,310-68,708,070
(GRCh37/hg19)

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

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 :
  • 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

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

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 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

Animal Model Products

miRNA for IGHMBP2 Gene

Clone Products

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IGHMBP2 Gene

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

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:0006281 DNA repair TAS 8493094
GO:0006310 DNA recombination TAS 8349627
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated 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
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(1) 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
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for IGHMBP2 Gene



Protein tissue co-expression partners for IGHMBP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of IGHMBP2 Gene:

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

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 33 34
  • 98.72 (n)
dog
(Canis familiaris)
Mammalia IGHMBP2 33 34
  • 82.96 (n)
cow
(Bos Taurus)
Mammalia IGHMBP2 33 34
  • 81.2 (n)
rat
(Rattus norvegicus)
Mammalia Ighmbp2 33
  • 79.29 (n)
mouse
(Mus musculus)
Mammalia Ighmbp2 33 16 34
  • 79.03 (n)
oppossum
(Monodelphis domestica)
Mammalia IGHMBP2 34
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGHMBP2 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves IGHMBP2 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IGHMBP2 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ighmbp2 33
  • 63.03 (n)
Str.12258 33
zebrafish
(Danio rerio)
Actinopterygii ighmbp2 33 34
  • 59.71 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5947 33
fruit fly
(Drosophila melanogaster)
Insecta CG30094 34
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y106G6D.5 35
  • 30 (a)
eri-7 34
  • 26 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL098C 33
  • 49.27 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E18085g 33
  • 46.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HCS1 33 34 36
  • 45.33 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G03270 33
  • 49.95 (n)
rice
(Oryza sativa)
Liliopsida Os03g0586900 33
  • 50.16 (n)
Os.9254 33
bread mold
(Neurospora crassa)
Ascomycetes NCU07395 33
  • 50.19 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC737.07c 33
  • 46.1 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 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

Paralogs for IGHMBP2 Gene

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

Variants for IGHMBP2 Gene

Sequence variations from dbSNP and Humsavar for IGHMBP2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1017861204 uncertain-significance, Spinal muscular atrophy 68,940,519(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1057518943 likely-pathogenic, Difficulty walking, Hammertoe, Inability to walk, Lower limb muscle weakness, Progressive muscle weakness 68,906,163(+) G/A/C 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs10896380 benign, not specified, Spinal muscular atrophy, Spinal muscular atrophy, distal, autosomal recessive, 1 68,914,934(+) A/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs11228413 benign, not specified, Spinal muscular atrophy, Spinal muscular atrophy, distal, autosomal recessive, 1 68,934,480(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs11228414 likely-benign, benign, Spinal muscular atrophy, not specified, Charcot-Marie-Tooth disease, axonal, type 2S, Spinal muscular atrophy, distal, autosomal recessive, 1 68,936,802(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant

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

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

Disorders for IGHMBP2 Gene

MalaCards: The human disease database

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

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

Additional Disease Information for IGHMBP2

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

No data available for Genatlas for IGHMBP2 Gene

Publications for IGHMBP2 Gene

  1. 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 44 58
  2. 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 58
  3. 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 58
  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 58
  5. IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk. (PMID: 16752224) Shen J … Santella RM (Breast cancer research and treatment 2006) 3 22 44 58

Products for IGHMBP2 Gene

Sources for IGHMBP2 Gene

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