IGHMBP2 (immunoglobulin mu DNA binding protein 2) - Rat Genome Database

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Gene: IGHMBP2 (immunoglobulin mu DNA binding protein 2) Homo sapiens
Analyze
Symbol: IGHMBP2
Name: immunoglobulin mu DNA binding protein 2
RGD ID: 68450
HGNC Page HGNC:5542
Description: Enables several functions, including ATP binding activity; helicase activity; and nucleic acid binding activity. Involved in DNA duplex unwinding and RNA secondary structure unwinding. Located in cytoplasm and nuclear body. Implicated in Charcot-Marie-Tooth disease axonal type 2S and distal spinal muscular atrophy 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-dependent helicase IGHMBP2; cardiac transcription factor 1; CATF1; CMT2S; DNA-binding protein SMUBP-2; FLJ34220; FLJ41171; GF-1; glial factor 1; HCSA; HMN6; immunoglobulin mu binding protein 2; immunoglobulin mu-binding protein 2; SMARD1; SMUBP2; ZFAND7; zinc finger, AN1-type domain 7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381168,903,891 - 68,940,601 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1168,903,863 - 68,940,602 (+)EnsemblGRCh38hg38GRCh38
GRCh371168,671,359 - 68,708,069 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361168,427,895 - 68,464,645 (+)NCBINCBI36Build 36hg18NCBI36
Build 341168,427,947 - 68,464,635NCBI
Celera1166,010,833 - 66,047,528 (+)NCBICelera
Cytogenetic Map11q13.3NCBI
HuRef1165,010,080 - 65,046,857 (+)NCBIHuRef
CHM1_11168,554,758 - 68,591,518 (+)NCBICHM1_1
T2T-CHM13v2.01168,913,020 - 68,949,716 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Grohmann K, etal., Nat Genet 2001 Sep;29(1):75-7.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1714899   PMID:8349627   PMID:8493094   PMID:8619474   PMID:9110174   PMID:9439975   PMID:9507986   PMID:10049831   PMID:11292846   PMID:12477932   PMID:12547203   PMID:14681881  
PMID:14702039   PMID:15106121   PMID:15231747   PMID:15290238   PMID:15599641   PMID:15797190   PMID:16752224   PMID:16964485   PMID:18187479   PMID:18187620   PMID:18802676   PMID:19157874  
PMID:19158098   PMID:19299493   PMID:19946888   PMID:20031928   PMID:20301462   PMID:20301532   PMID:20441787   PMID:21873635   PMID:22157136   PMID:22791546   PMID:22965130   PMID:22999958  
PMID:24022109   PMID:24388491   PMID:25248952   PMID:25439726   PMID:25568292   PMID:25881701   PMID:26136520   PMID:26186194   PMID:26496610   PMID:26922252   PMID:26972000   PMID:27684187  
PMID:28065684   PMID:28202949   PMID:28514442   PMID:29509190   PMID:29575095   PMID:30021884   PMID:30218034   PMID:30471916   PMID:30940648   PMID:31527615   PMID:31665637   PMID:32807901  
PMID:33060197   PMID:33961781   PMID:34668123   PMID:35390516   PMID:35660062   PMID:36077311  


Genomics

Comparative Map Data
IGHMBP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381168,903,891 - 68,940,601 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1168,903,863 - 68,940,602 (+)EnsemblGRCh38hg38GRCh38
GRCh371168,671,359 - 68,708,069 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361168,427,895 - 68,464,645 (+)NCBINCBI36Build 36hg18NCBI36
Build 341168,427,947 - 68,464,635NCBI
Celera1166,010,833 - 66,047,528 (+)NCBICelera
Cytogenetic Map11q13.3NCBI
HuRef1165,010,080 - 65,046,857 (+)NCBIHuRef
CHM1_11168,554,758 - 68,591,518 (+)NCBICHM1_1
T2T-CHM13v2.01168,913,020 - 68,949,716 (+)NCBIT2T-CHM13v2.0
Ighmbp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39193,309,076 - 3,333,011 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl193,309,076 - 3,333,017 (-)EnsemblGRCm39 Ensembl
GRCm38193,259,076 - 3,283,010 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl193,259,076 - 3,283,017 (-)EnsemblGRCm38mm10GRCm38
MGSCv37193,259,076 - 3,283,010 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36193,259,076 - 3,282,906 (-)NCBIMGSCv36mm8
Celera193,128,514 - 3,152,444 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map193.03NCBI
Ighmbp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21200,506,641 - 200,529,293 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1200,506,338 - 200,529,514 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1208,882,017 - 208,902,645 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01215,968,585 - 215,991,233 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01208,642,793 - 208,665,441 (-)NCBIRnor_WKY
Rnor_6.01218,509,274 - 218,531,922 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1218,508,950 - 218,532,142 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01225,377,073 - 225,399,721 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41205,792,891 - 205,815,212 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11205,946,343 - 205,968,665 (-)NCBI
Celera1198,061,146 - 198,084,182 (-)NCBICelera
Cytogenetic Map1q42NCBI
Ighmbp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542217,017,358 - 17,048,650 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542217,017,855 - 17,047,724 (-)NCBIChiLan1.0ChiLan1.0
IGHMBP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11167,294,195 - 67,331,659 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1167,294,195 - 67,331,659 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01163,991,285 - 64,028,430 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
IGHMBP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11849,063,748 - 49,090,625 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1849,064,609 - 49,091,453 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1847,670,994 - 47,697,919 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01849,870,038 - 49,895,973 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11849,184,053 - 49,210,780 (-)NCBIUMICH_Zoey_3.1
Ighmbp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049474,964,472 - 4,997,419 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365991,406,802 - 1,439,774 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365991,406,815 - 1,439,764 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IGHMBP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl24,171,344 - 4,194,525 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.124,169,510 - 4,194,699 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.222,750,512 - 2,774,377 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IGHMBP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.115,619,138 - 5,655,033 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl15,619,425 - 5,655,737 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038102,897,184 - 102,933,512 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ighmbp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476718,036,650 - 18,065,742 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476718,038,559 - 18,065,745 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IGHMBP2
885 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs) duplication Autosomal recessive distal spinal muscular atrophy 1 [RCV000542958] Chr11:68935344..68935345 [GRCh38]
Chr11:68702812..68702813 [GRCh37]
Chr11:11q13.3
pathogenic
NM_002180.3(IGHMBP2):c.1756+4C>T single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000548573]|Inborn genetic diseases [RCV002413541]|not provided [RCV001509412]|not specified [RCV000611337] Chr11:68935426 [GRCh38]
Chr11:68702894 [GRCh37]
Chr11:11q13.3
likely benign|uncertain significance
NM_002180.3(IGHMBP2):c.639T>C (p.His213=) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000551145]|Inborn genetic diseases [RCV002358515] Chr11:68911531 [GRCh38]
Chr11:68678999 [GRCh37]
Chr11:11q13.3
likely benign
NM_002180.3(IGHMBP2):c.166C>T (p.Arg56Cys) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000530655] Chr11:68906148 [GRCh38]
Chr11:68673616 [GRCh37]
Chr11:11q13.3
uncertain significance
NM_002180.3(IGHMBP2):c.1489G>T (p.Gly497Trp) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000548326]|not provided [RCV001171657] Chr11:68933865 [GRCh38]
Chr11:68701333 [GRCh37]
Chr11:11q13.3
uncertain significance
NM_002180.3(IGHMBP2):c.659A>G (p.Lys220Arg) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000526981] Chr11:68911551 [GRCh38]
Chr11:68679019 [GRCh37]
Chr11:11q13.3
uncertain significance
NM_002180.3(IGHMBP2):c.1143C>T (p.Leu381=) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000545655]|Inborn genetic diseases [RCV002456138]|not provided [RCV001532174]|not specified [RCV000600634] Chr11:68929265 [GRCh38]
Chr11:68696733 [GRCh37]
Chr11:11q13.3
likely benign
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000235071]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000693255]|not provided [RCV000235520] Chr11:68934466 [GRCh38]
Chr11:68701934 [GRCh37]
Chr11:11q13.3
pathogenic
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV001095539]|Charcot-Marie-Tooth disease axonal type 2S [RCV000664227] Chr11:68911530 [GRCh38]
Chr11:68678998 [GRCh37]
Chr11:11q13.3
pathogenic|likely pathogenic
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000535929]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000664209]|Peripheral neuropathy [RCV001813969] Chr11:68935404 [GRCh38]
Chr11:68702872 [GRCh37]
Chr11:11q13.3
pathogenic|likely pathogenic
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000009685] Chr11:68906103 [GRCh38]
Chr11:68673571 [GRCh37]
Chr11:11q13.3
pathogenic
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs) deletion Autosomal recessive distal spinal muscular atrophy 1 [RCV000009686]|Charcot-Marie-Tooth disease axonal type 2S [RCV002288478]|not provided [RCV001090412] Chr11:68911566 [GRCh38]
Chr11:68679034 [GRCh37]
Chr11:11q13.3
pathogenic|likely pathogenic
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000009687]|Charcot-Marie-Tooth disease axonal type 2S [RCV001807723] Chr11:68911599 [GRCh38]
Chr11:68679067 [GRCh37]
Chr11:11q13.3
pathogenic
NM_002180.3(IGHMBP2):c.2611+1G>T single nucleotide variant Autosomal dominant distal hereditary motor neuropathy [RCV000789975]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000009688]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000528403]|not provided [RCV000598811] Chr11:68937092 [GRCh38]
Chr11:68704560 [GRCh37]
Chr11:11q13.3
pathogenic|likely pathogenic|uncertain significance
NM_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000009689] Chr11:68929229 [GRCh38]
Chr11:68696697 [GRCh37]
Chr11:11q13.3
pathogenic
NC_000011.10:g.(68906754_68906786)_(68925257_68925289)del deletion Autosomal recessive distal spinal muscular atrophy 1 [RCV000009690] Chr11:68906786..68925257 [GRCh38]
Chr11:68674254..68692725 [GRCh37]
Chr11:11q13.3
pathogenic
NM_002180.3(IGHMBP2):c.87-160G>A single nucleotide variant not provided [RCV001564487] Chr11:68905909 [GRCh38]
Chr11:68673377 [GRCh37]
Chr11:11q13.3
likely benign
NM_002180.3(IGHMBP2):c.1561C>T (p.His521Tyr) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000542231] Chr11:68934487 [GRCh38]
Chr11:68701955 [GRCh37]
Chr11:11q13.3
uncertain significance
NM_002180.3(IGHMBP2):c.2875G>A (p.Gly959Arg) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000544779] Chr11:68939624 [GRCh38]
Chr11:68707092 [GRCh37]
Chr11:11q13.3
uncertain significance
NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV001504951]|Charcot-Marie-Tooth disease [RCV001174197]|Inborn genetic diseases [RCV002404459]|not provided [RCV000529560] Chr11:68934522 [GRCh38]
Chr11:68701990 [GRCh37]
Chr11:11q13.3
likely benign
NM_002180.3(IGHMBP2):c.1848T>C (p.Thr616=) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000527377]|Inborn genetic diseases [RCV002413542] Chr11:68936328 [GRCh38]
Chr11:68703796 [GRCh37]
Chr11:11q13.3
likely benign
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000876373]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001113751]|Inborn genetic diseases [RCV002413398]|not provided [RCV001568852]|not specified [RCV000518138] Chr11:68936325 [GRCh38]
Chr11:68703793 [GRCh37]
Chr11:11q13.3
likely benign|uncertain significance
NM_002180.3(IGHMBP2):c.1515C>T (p.Asp505=) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000529002]|Inborn genetic diseases [RCV002395396] Chr11:68933891 [GRCh38]
Chr11:68701359 [GRCh37]
Chr11:11q13.3
likely benign
NM_002180.3(IGHMBP2):c.2715C>T (p.Gly905=) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000524913]|Inborn genetic diseases [RCV002431625]|not provided [RCV001539327] Chr11:68938285 [GRCh38]
Chr11:68705753 [GRCh37]
Chr11:11q13.3
likely benign
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 1 [RCV000707111] Chr11:68936936 [GRCh38]
Chr11:68704404 [GRCh37]
Chr11:68460980 [NCBI36]
Chr11:11q13.3
uncertain significance|not