Details for: IGHMBP2

Gene ID: 3508

Symbol: IGHMBP2

Ensembl ID: ENSG00000132740

Description: immunoglobulin mu DNA binding protein 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.2
    Marker Score: 2094
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71774
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47998
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30403
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 488
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.94
    Marker Score: 14667
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 441
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2723
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5043
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.88
    Marker Score: 314
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5264
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.78
    Marker Score: 717
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 378
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.73
    Marker Score: 6903
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.72
    Marker Score: 1118
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.72
    Marker Score: 6216
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.72
    Marker Score: 551.5
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.71
    Marker Score: 283.5
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.68
    Marker Score: 42116
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2869
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.68
    Marker Score: 7055
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 619
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 169
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.64
    Marker Score: 629
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.64
    Marker Score: 1396.5
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.61
    Marker Score: 293
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.61
    Marker Score: 870
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.6
    Marker Score: 1212
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.56
    Marker Score: 5262
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.55
    Marker Score: 443
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.54
    Marker Score: 3258
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.54
    Marker Score: 324
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 428
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.51
    Marker Score: 380
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.5
    Marker Score: 209
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.49
    Marker Score: 1208
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.48
    Marker Score: 326
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.48
    Marker Score: 596
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.46
    Marker Score: 16944
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.45
    Marker Score: 290
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.45
    Marker Score: 1060
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.45
    Marker Score: 1723
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.45
    Marker Score: 16923
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.44
    Marker Score: 139
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.43
    Marker Score: 125
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.43
    Marker Score: 287
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.42
    Marker Score: 9023
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.42
    Marker Score: 958
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.42
    Marker Score: 8337
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.41
    Marker Score: 498
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.41
    Marker Score: 168
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.41
    Marker Score: 272
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.41
    Marker Score: 473
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.41
    Marker Score: 865
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.41
    Marker Score: 450
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.41
    Marker Score: 142
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.41
    Marker Score: 539
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.4
    Marker Score: 1662
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.4
    Marker Score: 1626
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.4
    Marker Score: 128
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.38
    Marker Score: 5716
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.37
    Marker Score: 99
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.36
    Marker Score: 2785
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.36
    Marker Score: 391
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.36
    Marker Score: 229
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.36
    Marker Score: 114
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.36
    Marker Score: 178
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.35
    Marker Score: 338
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.35
    Marker Score: 349
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.35
    Marker Score: 145
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.35
    Marker Score: 196
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.34
    Marker Score: 166
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.34
    Marker Score: 139
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 0.34
    Marker Score: 129
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.34
    Marker Score: 338
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.33
    Marker Score: 73
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.33
    Marker Score: 255
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.33
    Marker Score: 224
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.33
    Marker Score: 481
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.33
    Marker Score: 89
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.32
    Marker Score: 130
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.32
    Marker Score: 117
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.32
    Marker Score: 273.5
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.31
    Marker Score: 144
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.31
    Marker Score: 143
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.31
    Marker Score: 227
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.31
    Marker Score: 194
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.31
    Marker Score: 150
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.3
    Marker Score: 306
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.3
    Marker Score: 67
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.3
    Marker Score: 223
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.3
    Marker Score: 575
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.3
    Marker Score: 1948
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.3
    Marker Score: 134
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.3
    Marker Score: 203
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.3
    Marker Score: 89
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 0.3
    Marker Score: 67

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Other Information

**Key characteristics:** - IGHMBP2 is a transmembrane protein with a molecular weight of approximately 120 kDa. - It is a highly conserved protein that is found in vertebrates. - IGHMBP2 is a member of the immunoglobulin superfamily. - It is a DNA-binding protein that is characterized by a conserved cysteine-rich domain. - IGHMBP2 is a ubiquitin-dependent protein that is regulated by the E3 ubiquitin ligase Smurf1. **Pathways and functions:** - IGHMBP2 is involved in a variety of cellular processes, including cell cycle regulation, differentiation, proliferation, and apoptosis. - It is a key regulator of cell cycle progression. - It is involved in the regulation of neural differentiation. - It is involved in the regulation of apoptosis. - It is involved in the regulation of stem cell function. **Clinical significance:** - Mutations in IGHMBP2 have been linked to a number of human diseases, including cancer, neurodegenerative disorders, and autoimmune disorders. - IGHMBP2 is a potential target for cancer therapy. - It is a promising target for the treatment of neurodegenerative disorders. - IGHMBP2 is a potential target for the treatment of autoimmune disorders.

Genular Protein ID: 327896400

Symbol: SMBP2_HUMAN

Name: DNA-binding protein SMUBP-2

UniProtKB Accession Codes:

P38935 A0PJD2 Q00443 Q14177

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CTD 1 ChEBI 22 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 5 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 27 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 13 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 10 PDBsum 4 PIR 1 PRO 1 PROSITE 2 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 Rhea 4 SAM 1 SMART 4 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8349627

Title: 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

DOI: 10.1016/s0021-9258(19)85357-7

PubMed ID: 10049831

Title: Smubp-2 represses the Epstein-Barr virus lytic switch promoter.

PubMed ID: 10049831

DOI: 10.1006/viro.1998.9588

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1714899

Title: A recombinant cDNA derived from human brain encodes a DNA binding protein that stimulates transcription of the human neurotropic virus JCV.

PubMed ID: 1714899

DOI: 10.1016/s0021-9258(18)98490-5

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 19158098

Title: IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).

PubMed ID: 19158098

DOI: 10.1093/hmg/ddp028

PubMed ID: 19299493

Title: Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.

PubMed ID: 19299493

DOI: 10.1093/hmg/ddp134

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 30218034

Title: UPF1-like helicase grip on nucleic acids dictates processivity.

PubMed ID: 30218034

DOI: 10.1038/s41467-018-06313-y

PubMed ID: 12547203

Title: Solution structure of the R3H domain from human Smubp-2.

PubMed ID: 12547203

DOI: 10.1016/s0022-2836(02)01381-5

PubMed ID: 22999958

Title: Structural basis for 5'-end-specific recognition of single-stranded DNA by the R3H domain from human Smubp-2.

PubMed ID: 22999958

DOI: 10.1016/j.jmb.2012.09.010

PubMed ID: 22965130

Title: The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.

PubMed ID: 22965130

DOI: 10.1093/nar/gks792

PubMed ID: 11528396

Title: Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

PubMed ID: 11528396

DOI: 10.1038/ng703

PubMed ID: 14681881

Title: Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

PubMed ID: 14681881

DOI: 10.1002/ana.10755

PubMed ID: 15290238

Title: Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.

PubMed ID: 15290238

DOI: 10.1007/s00439-004-1156-0

PubMed ID: 15108294

Title: Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.

PubMed ID: 15108294

DOI: 10.1002/humu.9241

PubMed ID: 15797190

Title: A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.

PubMed ID: 15797190

DOI: 10.1016/j.pediatrneurol.2004.11.003

PubMed ID: 17431882

Title: Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.

PubMed ID: 17431882

DOI: 10.1002/humu.20525

PubMed ID: 18802676

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.

PubMed ID: 18802676

DOI: 10.1007/s00109-008-0402-7

PubMed ID: 25439726

Title: Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

PubMed ID: 25439726

DOI: 10.1016/j.ajhg.2014.10.002

Sequence Information:

  • Length: 993
  • Mass: 109149
  • Checksum: DE785579EE60E26F
  • Sequence:
    • MASAAVESFV TKQLDLLELE RDAEVEERRS WQENISLKEL QSRGVCLLKL QVSSQRTGLY 
GRLLVTFEPR RYGSAAALPS NSFTSGDIVG LYDAANEGSQ LATGILTRVT QKSVTVAFDE 
SHDFQLSLDR ENSYRLLKLA NDVTYRRLKK ALIALKKYHS GPASSLIEVL FGRSAPSPAS 
EIHPLTFFNT CLDTSQKEAV LFALSQKELA IIHGPPGTGK TTTVVEIILQ AVKQGLKVLC 
CAPSNIAVDN LVERLALCKQ RILRLGHPAR LLESIQQHSL DAVLARSDSA QIVADIRKDI 
DQVFVKNKKT QDKREKSNFR NEIKLLRKEL KEREEAAMLE SLTSANVVLA TNTGASADGP 
LKLLPESYFD VVVIDECAQA LEASCWIPLL KARKCILAGD HKQLPPTTVS HKAALAGLSL 
SLMERLAEEY GARVVRTLTV QYRMHQAIMR WASDTMYLGQ LTAHSSVARH LLRDLPGVAA 
TEETGVPLLL VDTAGCGLFE LEEEDEQSKG NPGEVRLVSL HIQALVDAGV PARDIAVVSP 
YNLQVDLLRQ SLVHRHPELE IKSVDGFQGR EKEAVILSFV RSNRKGEVGF LAEDRRINVA 
VTRARRHVAV ICDSRTVNNH AFLKTLVEYF TQHGEVRTAF EYLDDIVPEN YSHENSQGSS 
HAATKPQGPA TSTRTGSQRQ EGGQEAAAPA RQGRKKPAGK SLASEAPSQP SLNGGSPEGV 
ESQDGVDHFR AMIVEFMASK KMQLEFPPSL NSHDRLRVHQ IAEEHGLRHD SSGEGKRRFI 
TVSKRAPRPR AALGPPAGTG GPAPLQPVPP TPAQTEQPPR EQRGPDQPDL RTLHLERLQR 
VRSAQGQPAS KEQQASGQQK LPEKKKKKAK GHPATDLPTE EDFEALVSAA VKADNTCGFA 
KCTAGVTTLG QFCQLCSRRY CLSHHLPEIH GCGERARAHA RQRISREGVL YAGSGTKNGS 
LDPAKRAQLQ RRLDKKLSEL SNQRTSRRKE RGT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.