IGHMBP2 Gene
protein-coding GIFtS: 59
GCID: GC11P068671
|
|
immunoglobulin mu binding protein 2
| |
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 |
Export aliases for IGHMBP2 gene to outside databasesPrevious 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 chainswitch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. (provided byRefSeq, Jul 2008)
UniProtKB/Swiss-Prot: SMBP2_HUMAN, P38935Function: 5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcriptionregulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibitsstrong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to theinsulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specificto 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 humanneurotropic 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
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: 11q13.3IGHMBP2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 ribonucleoproteincomplexes (Probable). Associates with the ribosomes
Subcellular location: Nucleus. Cytoplasm. Cell projection, axon (By similarity). Note=Colocalizes with the traslationinitiation 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 Q14177Explore the universe of human proteins at neXtProt for IGHMBP2: NX_P38935
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P38935
4/15 DME Specific Peptides for IGHMBP2 (P38935) (see all 15)
IGHMBP2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_002171.2
ENSEMBL proteins: ENSP00000255078 ENSP00000443343 ENSP00000440465 ENSP00000456366
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
IGHMBP2 for ontologies About GeneDecksing
IGHMBP2 Antibody Products:
Assay Products for IGHMBP2: |
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):Graphical View of Domain Structure for InterPro Entry P38935ProtoNet protein and cluster: P38935 2 Blocks protein families: IPB000058 Zn-finger IPB001374 Single-stranded nucleic acid binding R3H
UniProtKB/Swiss-Prot: SMBP2_HUMAN, P38935Similarity: Belongs to the DNA2/NAM7 helicase familySimilarity: Contains 1 AN1-type zinc fingerSimilarity: 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,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SMBP2_HUMAN, P38935Function: 5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcriptionregulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibitsstrong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to theinsulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specificto 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 humanneurotropic virus JCVCatalytic 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
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IGHMBP2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IGHMBP2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: IGHMBP2 (NM_002180) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for IGHMBP2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGHMBP2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGHMBP2 |
Gene Ontology (GO): 5/15 molecular function terms (GO ID links to tree view) (see all 15): About this table
IGHMBP2 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for IGHMBP2:
Animal Models:
9 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Ighmbp2):
IGHMBP2 for phenotypes About GeneDecksing
|
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)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table
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 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,
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: AB20880212 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IGHMBP2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IGHMBP2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: IGHMBP2 (NM_002180) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for IGHMBP2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGHMBP2 |
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
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, P38935Tissue specificity: Expressed in all tissues examined
SABiosciences Custom PCR Arrays for IGHMBP2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IGHMBP2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IGHMBP2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IGHMBP2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IGHMBP2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGHMBP2 |
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 |
IGHMBP26C4orf216 |
Uncharacterized protein |
66(a)12(a) |
1 ↔ 1possible ortholog |
5(1469270-1504368) 4(58673925-58689041) |
lizard
(Anolis carolinensis) |
Reptilia |
IGHMBP26C4orf216(see all 3) |
-- |
62(a)11(a)(see all 3) |
1 ↔ 1possible 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 more |
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 more4
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 cloneJ more |
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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
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 |
|
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]; alsoknown as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratorydistress 1 (SMARD1). Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromusculardisorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensorydeficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndromein the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of theanterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximalmuscles of the lower limbs and/or to the distal upper limbs. The most prominent symptoms of HMN6 are severerespiratory distress resulting from diaphragmatic paralysis with eventration shown on chest x-ray and predominantinvolvement of the upper limbs and distal muscles
17  diseases for IGHMBP2: About MalaCardsspinal 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
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 |
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). (PubMed id 14681881)1, 2, 9 Grohmann K.... Huebner C. (2003)
- Solution structure of the R3H domain from human Smubp-2. (PubMed id 12547203)1, 2 Liepinsh E.... Otting G. (2003)
- 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)
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External Searches for IGHMBP2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing IGHMBP2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing IGHMBP2 gene
(According to HUGE)
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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)
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| Patent Information for IGHMBP2 gene:
Search GeneIP for patents involving IGHMBP2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for IGHMBP2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for IGHMBP2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IGHMBP2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IGHMBP2 | | | OriGene Protein Over-expression Lysate for IGHMBP2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for IGHMBP2 | | OriGene 3'-UTR Clone for IGHMBP2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IGHMBP2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IGHMBP2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat IGHMBP2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IGHMBP2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IGHMBP2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IGHMBP2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IGHMBP2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IGHMBP2 |
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| | | | Search Tocris compounds for IGHMBP2 |
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|  |  |  | | | | Search ThermoFisher Antibodies for IGHMBP2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGHMBP2 |
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