U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ighmbp2 immunoglobulin mu DNA binding protein 2 [ Mus musculus (house mouse) ]

Gene ID: 20589, updated on 5-Mar-2024

Summary

Official Symbol
Ighmbp2provided by MGI
Official Full Name
immunoglobulin mu DNA binding protein 2provided by MGI
Primary source
MGI:MGI:99954
See related
Ensembl:ENSMUSG00000024831 AllianceGenome:MGI:99954
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
AEP; nmd; sma; Catf1; Smbp2; Smbp-2; Smubp2; RIPE3b1
Summary
Enables G-rich single-stranded DNA binding activity and ribosome binding activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II; neuromuscular process; and spinal cord motor neuron differentiation. Located in several cellular components, including growth cone; neuronal cell body; and perinuclear region of cytoplasm. Part of ribonucleoprotein complex. Is expressed in several structures, including genitourinary system; heart; liver; lung; and nervous system. Used to study distal spinal muscular atrophy 1. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2S and distal spinal muscular atrophy 1. Orthologous to human IGHMBP2 (immunoglobulin mu DNA binding protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary adult (RPKM 3.8), thymus adult (RPKM 3.7) and 28 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Ighmbp2 in Genome Data Viewer
Location:
19 A; 19 3.03 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (3309076..3333011, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (3259076..3283010, complement)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene Crn, crooked neck-like 1 pseudogene Neighboring gene zinc finger protein 384 pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:3282897-3283006 Neighboring gene mitochondrial ribosomal protein L21 Neighboring gene microRNA 6984 Neighboring gene STARR-seq mESC enhancer starr_45314 Neighboring gene carnitine palmitoyltransferase 1a, liver

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 5'-3' DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables 5'-3' DNA helicase activity ISO
Inferred from Sequence Orthology
more info
 
enables 5'-3' RNA helicase activity ISO
Inferred from Sequence Orthology
more info
 
enables ATP binding ISO
Inferred from Sequence Orthology
more info
 
enables ATP hydrolysis activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ATP hydrolysis activity ISO
Inferred from Sequence Orthology
more info
 
enables ATP-dependent activity, acting on DNA ISO
Inferred from Sequence Orthology
more info
 
enables ATP-dependent activity, acting on RNA ISO
Inferred from Sequence Orthology
more info
 
enables DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables G-rich single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA binding ISO
Inferred from Sequence Orthology
more info
 
enables RNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
enables double-stranded DNA helicase activity ISO
Inferred from Sequence Orthology
more info
 
enables helicase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables ribosome binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ribosome binding ISO
Inferred from Sequence Orthology
more info
 
enables single-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables single-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables single-stranded RNA binding ISO
Inferred from Sequence Orthology
more info
 
enables tRNA binding ISO
Inferred from Sequence Orthology
more info
PubMed 
enables transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in axon IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in growth cone IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
part_of ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA-binding protein SMUBP-2
Names
ATP-dependent helicase IGHMBP2
antifreeze enhancer-binding protein
cardiac transcription factor 1
immunoglobulin S mu binding protein 2
immunoglobulin mu binding protein 2
neuromuscular degeneration
p110 subunit
NP_033238.2
XP_036017390.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_009212.2NP_033238.2  DNA-binding protein SMUBP-2

    See identical proteins and their annotated locations for NP_033238.2

    Status: VALIDATED

    Source sequence(s)
    AC148174, AL626765
    Consensus CDS
    CCDS29393.1
    UniProtKB/Swiss-Prot
    P40694
    UniProtKB/TrEMBL
    A0A0B4J1E3
    Related
    ENSMUSP00000025751.4, ENSMUST00000025751.11
    Conserved Domains (5) summary
    cd02641
    Location:724782
    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 ...
    smart00154
    Location:895935
    ZnF_AN1; AN1-like Zinc finger
    TIGR00376
    Location:19640
    TIGR00376; DNA helicase, putative
    pfam13087
    Location:417613
    AAA_12; AAA domain
    pfam13245
    Location:197255
    AAA_19; Part of AAA domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    3309076..3333011 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036161497.1XP_036017390.1  DNA-binding protein SMUBP-2 isoform X1

    Conserved Domains (3) summary
    cd02641
    Location:303361
    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 ...
    smart00154
    Location:474514
    ZnF_AN1; AN1-like Zinc finger
    TIGR00376
    Location:1219
    TIGR00376; DNA helicase, putative

RNA

  1. XR_001782563.3 RNA Sequence

  2. XR_003952763.2 RNA Sequence

  3. XR_001782564.3 RNA Sequence