IGHMBP2 immunoglobulin mu binding protein 2 [Homo sapiens] - Gene

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Summary

Official Symbol: IGHMBP2provided by HGNC
Official Full Name: immunoglobulin mu binding protein 2provided by HGNC
Primary source: HGNC:5542
See related: Ensembl:ENSG00000132740; HPRD:02736; MIM:600502; Vega:OTTHUMG00000167894
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HCSA; HMN6; CATF1; SMARD1; SMUBP2; FLJ34220; FLJ41171
Summary: 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]

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Genomic context

Location :: 11q13.3

Sequence :: Chromosome: 11; NC_000011.9 (68671319..68708069)

See IGHMBP2 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

mutations in the IGHMBP2 gene of patients with more favorable outcomes retained residual enzymatic activity.
Title: The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Variation in IGHMBP2 does not confer significant susceptibility to IgA nephropathy in UK Caucasian or Chinese Han populations.
Title: Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.
Taken together, these observations suggest that the duplicated GGAA motifs are essential for the IGHMBP2 promoter activity and its positive response to TPA in HL-60 cells.
Title: Characterization of the promoter region of the human IGHMBP2 (Smubp-2) gene and its response to TPA in HL-60 cells.
SMARD1 phenotype should be considered in cases of atypical spinal muscular atrophy even in the absence of overt diaphragmatic weakness.
Title: Interfamilial phenotypic heterogeneity in SMARD1.
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.
Title: 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.
IGHMBP2 is functionally linked to translation, and that mutations in its helicase domain interfere with this function in distal spinal muscular atrophy type 1 patients.
Title: IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
Juvenile SMARD1 with onset in early childhood can also be caused by mutations of IGHMBP2.5 In accordance with the known phenotypical overlapping between SOD1-associated fALS and SMA, we investigated a selected group of eight sporadic ALS patients.
Title: Sporadic ALS with early-onset respiratory failure is not associated with IGHMBP2 gene mutations.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk.
Observational study of gene-disease association. (HuGE Navigator)
Title: Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.
association between IgA nephropathy and an SNP located in the gene encoding immunoglobulin micro-binding protein 2 (IGHMBP2) at chromosome 11q13.2-q13.4
Title: Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy.

Submit: New GeneRIF Correction See all (13)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Neuronopathy, distal hereditary motor, type VI

MIM: 604320

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
P38935	O95777	NAA38		HPRD	PubMed
BioGRID:109728	BioGRID:119679	NAA38		BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
ATP binding	IDA Inferred from Direct Assay more info	PubMed
ATP-dependent 5'-3' DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
ATP-dependent 5'-3' RNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
DNA binding	IDA Inferred from Direct Assay more info	PubMed
DNA helicase activity	TAS Traceable Author Statement more info	PubMed
DNA-dependent ATPase activity	IDA Inferred from Direct Assay more info	PubMed
RNA binding	IDA Inferred from Direct Assay more info	PubMed
RNA-dependent ATPase activity	IDA Inferred from Direct Assay more info	PubMed
hydrolase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
ribosome binding	IDA Inferred from Direct Assay more info	PubMed
single-stranded DNA binding	TAS Traceable Author Statement more info	PubMed
tRNA binding	IDA Inferred from Direct Assay more info	PubMed
transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
DNA duplex unwinding	TAS Traceable Author Statement more info	PubMed
DNA recombination	TAS Traceable Author Statement more info	PubMed
DNA repair	TAS Traceable Author Statement more info	PubMed
DNA replication	TAS Traceable Author Statement more info	PubMed
cell death	IEA Inferred from Electronic Annotation more info
negative regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
protein homooligomerization	IPI Inferred from Physical Interaction more info	PubMed
regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
translation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
NOT colocalizes_with SMN complex	IDA Inferred from Direct Assay more info	PubMed
axon	ISS Inferred from Sequence or Structural Similarity more info
cell projection	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
growth cone	ISS Inferred from Sequence or Structural Similarity more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
ribonucleoprotein complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Preferred Names: DNA-binding protein SMUBP-2

Names: DNA-binding protein SMUBP-2; GF-1; glial factor 1; ATP-dependent helicase IGHMBP2; cardiac transcription factor 1; immunoglobulin mu-binding protein 2

NP_002171.2

EC 3.6.4.12

EC 3.6.4.13

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007976.1 RefSeqGene

Range

5001..41751

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002180.2 → NP_002171.2 DNA-binding protein SMUBP-2

Status: REVIEWED

Source sequence(s)

BC025299, BE302389, DB448398, L14754

Consensus CDS

CCDS8187.1

UniProtKB/Swiss-Prot

P38935

Related

ENSP00000255078, OTTHUMP00000237202, ENST00000255078, OTTHUMT00000396862

Conserved Domains (5) summary

cd02641
Location:726 – 784
Blast Score: 253

R3H_Smubp-2_like; R3H domain of Smubp-2_like proteins. Smubp-2_like proteins also contain a helicase_like and an AN1-like Zinc finger domain and have been shown to bind single-stranded DNA. The name of the R3H domain comes from the characteristic spacing of the most ...

TIGR00376
Location:19 – 641
Blast Score: 2011

TIGR00376; DNA helicase, putative

cl01438
Location:902 – 937
Blast Score: 124

zf-AN1; AN1-like Zinc finger

cl15862
Location:418 – 615
Blast Score: 529

UvrD_C_2; Family description

cl09099
Location:192 – 410
Blast Score: 458

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

68671319..68708069

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

65010080..65046857

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP000808.6 (64818..101505)	None
genomic	CH471076.1	EAW74729.1
genomic	L24544.1	AAA70430.1
mRNA	AB208802.1	BAD92039.1
mRNA	AF052128.1	None
mRNA	AK091539.1	None
mRNA	AK123166.1	None
mRNA	AK312565.1	BAG35460.1
mRNA	BC000290.2	AAH00290.1
mRNA	BC015666.2	None
mRNA	BC025299.1	AAH25299.1
mRNA	BC041808.1	None
mRNA	BC052278.1	None
mRNA	BC062312.1	None
mRNA	BC080519.1	None
mRNA	BC105088.1	AAI05089.1
mRNA	BC105090.1	AAI05091.1
mRNA	BE302389.1	None
mRNA	DB448398.1	None
mRNA	L14754.1	AAA53082.1
mRNA	M64979.1	AAA58611.1