Details for: IGHMBP2
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 71.8119
Cell Significance Index: -11.1700 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 45.5758
Cell Significance Index: -11.5600 - Cell Name: embryonic stem cell (CL0002322)
Fold Change: 32.6741
Cell Significance Index: -13.4600 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 27.7164
Cell Significance Index: -11.2600 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 27.7047
Cell Significance Index: -13.0800 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 9.7814
Cell Significance Index: -12.0600 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 4.6326
Cell Significance Index: -12.4100 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 3.1120
Cell Significance Index: -12.2800 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 2.6684
Cell Significance Index: -5.8400 - Cell Name: epithelial cell of pancreas (CL0000083)
Fold Change: 0.7859
Cell Significance Index: 12.9500 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.6907
Cell Significance Index: 68.3300 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.5732
Cell Significance Index: 517.5500 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.5211
Cell Significance Index: 7.1100 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.4366
Cell Significance Index: 19.7900 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.4242
Cell Significance Index: 85.1000 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.4043
Cell Significance Index: 43.9800 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.4031
Cell Significance Index: 11.6200 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.3811
Cell Significance Index: 22.8800 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.3666
Cell Significance Index: 59.6300 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.3479
Cell Significance Index: 18.0700 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.3417
Cell Significance Index: 67.8100 - Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 0.3329
Cell Significance Index: 2.2100 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.2718
Cell Significance Index: 31.6700 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.2234
Cell Significance Index: 4.8400 - Cell Name: decidual cell (CL2000002)
Fold Change: 0.2144
Cell Significance Index: 3.4400 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.2036
Cell Significance Index: 14.0800 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.2027
Cell Significance Index: 5.2100 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.1990
Cell Significance Index: 35.8700 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.1729
Cell Significance Index: 62.0100 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.1709
Cell Significance Index: 13.1200 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.1535
Cell Significance Index: 106.1800 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.1506
Cell Significance Index: 9.4900 - Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
Fold Change: 0.1343
Cell Significance Index: 1.8900 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.1336
Cell Significance Index: 6.2300 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.1317
Cell Significance Index: 3.6800 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: 0.0981
Cell Significance Index: 1.4700 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.0939
Cell Significance Index: 11.5400 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0888
Cell Significance Index: 3.1200 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.0751
Cell Significance Index: 41.0300 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.0729
Cell Significance Index: 10.0100 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.0496
Cell Significance Index: 3.2000 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.0376
Cell Significance Index: 0.8000 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.0293
Cell Significance Index: 12.9600 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 0.0228
Cell Significance Index: 1.4000 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.0216
Cell Significance Index: 0.5800 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0179
Cell Significance Index: 3.0600 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.0159
Cell Significance Index: 7.2400 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.0121
Cell Significance Index: 1.5500 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: 0.0082
Cell Significance Index: 0.1400 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0082
Cell Significance Index: 15.3600 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0032
Cell Significance Index: 5.8600 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0028
Cell Significance Index: 4.2800 - Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.0000
Cell Significance Index: 0.0000 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0011
Cell Significance Index: -0.0300 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.0011
Cell Significance Index: -0.0500 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0017
Cell Significance Index: -2.2800 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: -0.0029
Cell Significance Index: -0.5500 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0037
Cell Significance Index: -2.3200 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.0077
Cell Significance Index: -0.4300 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0113
Cell Significance Index: -8.3100 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0134
Cell Significance Index: -10.1700 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0143
Cell Significance Index: -10.5600 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.0154
Cell Significance Index: -0.8100 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.0206
Cell Significance Index: -0.7800 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0210
Cell Significance Index: -11.8300 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0217
Cell Significance Index: -13.5800 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.0245
Cell Significance Index: -1.7300 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0328
Cell Significance Index: -3.7600 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0358
Cell Significance Index: -3.6600 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0367
Cell Significance Index: -10.5700 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.0380
Cell Significance Index: -1.0400 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.0463
Cell Significance Index: -3.1100 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.0509
Cell Significance Index: -6.5800 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.0521
Cell Significance Index: -1.0800 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0525
Cell Significance Index: -7.6300 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.0596
Cell Significance Index: -2.8000 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0663
Cell Significance Index: -13.9600 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0712
Cell Significance Index: -5.3100 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.0824
Cell Significance Index: -2.0600 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.0831
Cell Significance Index: -1.3900 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.0839
Cell Significance Index: -8.7400 - Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: -0.1045
Cell Significance Index: -1.7600 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -0.1088
Cell Significance Index: -2.3300 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.1090
Cell Significance Index: -3.4900 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.1179
Cell Significance Index: -3.3800 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.1189
Cell Significance Index: -3.1800 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.1204
Cell Significance Index: -7.3800 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.1405
Cell Significance Index: -11.1300 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.1430
Cell Significance Index: -4.9700 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.1513
Cell Significance Index: -7.8800 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.1571
Cell Significance Index: -4.1300 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.1605
Cell Significance Index: -3.3600 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.1729
Cell Significance Index: -5.0800 - Cell Name: pro-T cell (CL0000827)
Fold Change: -0.1906
Cell Significance Index: -4.8700 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: -0.1931
Cell Significance Index: -2.8500 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.1932
Cell Significance Index: -3.7700 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.2253
Cell Significance Index: -6.4300 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.2264
Cell Significance Index: -5.4300 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.2286
Cell Significance Index: -7.2800 - Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: -0.2306
Cell Significance Index: -1.9600
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 327896400
Symbol: SMBP2_HUMAN
Name: DNA-binding protein SMUBP-2
UniProtKB Accession Codes:
Database IDs:
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
PubMed ID: 10049831
Title: Smubp-2 represses the Epstein-Barr virus lytic switch promoter.
PubMed ID: 10049831
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
PubMed ID: 17525332
Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
PubMed ID: 17525332
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
PubMed ID: 22223895
Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.
PubMed ID: 22223895
PubMed ID: 22814378
Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
PubMed ID: 22814378
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
PubMed ID: 12547203
Title: Solution structure of the R3H domain from human Smubp-2.
PubMed ID: 12547203
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
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
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
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
PubMed ID: 25439726
Title: Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
PubMed ID: 25439726
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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.