Property Summary

NCBI Gene PubMed Count 42
Grant Count 7
R01 Count 4
Funding $1,096,767
PubMed Score 75.21
PubTator Score 82.70

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 1.100 0.000
psoriasis 1.200 0.002

Synonym

Accession P38935 A0PJD2 Q00443 Q14177
Symbols HCSA
HMN6
CATF1
CMT2S
SMARD1
SMUBP2
ZFAND7

Gene

PDB

1MSZ   2LRR   4B3F   4B3G  

Gene RIF (25)

PMID Text
26136520 demonstration of 2 additional mutations in the IGHMBP2 gene associated with hereditary motor and sensory neuropathy
25881701 IGHMBP2 overexpression may promote invasion and migration of esophageal squamous carcinoma cells through down-regulation of E-cadherin.
25568292 Mutations in IGHMBP2 were identified in patients presenting with axonal sensorimotor neuropathy.
25439726 Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
25248952 Spinal muscular atrophy with respiratory distress type 1 that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin mu-binding protein.
24388491 6 novel IGHMBP2 mutations were identified in 5 SMARD1 patietns
24022109 The IGHMBP2 gene was not found to be a major causative gene linked to Han Chinese non-5q-spinal muscular atrophy patients.
22999958 report the NMR structure of the Smubp2-R3H in complex with deoxyguanosine 5'-monophosphate (dGMP) mimicking the 5'-end of single-stranded DNA
22965130 Results reveal the critical role of the R3H domain in modulation of enzymatic and RNA-binding activities of Ighmbp2.
22791546 Genetic studies identified 2 mutations in the gene IGHMBP2. These results support the consideration of this entity as a form of sensory-motor rapidly progressive polyneuropathy.
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AA Sequence

MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPR      1 - 70
RYGSAAALPSNSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLA     71 - 140
NDVTYRRLKKALIALKKYHSGPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAVLFALSQKELA    141 - 210
IIHGPPGTGKTTTVVEIILQAVKQGLKVLCCAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSL    211 - 280
DAVLARSDSAQIVADIRKDIDQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLA    281 - 350
TNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGDHKQLPPTTVSHKAALAGLSL    351 - 420
SLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAATEETGVPLLL    421 - 490
VDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSPYNLQVDLLRQSLVHRHPELE    491 - 560
IKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVAVTRARRHVAVICDSRTVNNHAFLKTLVEYF    561 - 630
TQHGEVRTAFEYLDDIVPENYSHENSQGSSHAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGK    631 - 700
SLASEAPSQPSLNGGSPEGVESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHD    701 - 770
SSGEGKRRFITVSKRAPRPRAALGPPAGTGGPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQR    771 - 840
VRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFAKCTAGVTTLG    841 - 910
QFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGSLDPAKRAQLQRRLDKKLSEL    911 - 980
SNQRTSRRKERGT                                                             981 - 993
//

Text Mined References (49)

PMID Year Title
26136520 2015 Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation.
25881701 2015 [IGHMBP2 overexpression promotes cell migration and invasion in esophageal squamous carcinoma].
25568292 2015 Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.
25439726 2014 Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
25248952 2014 The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.
24388491 2014 Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.
24022109 2014 Variations of IGHMBP2 gene was not the major cause of Han Chinese patients with non-5q-spinal muscular atrophies.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22999958 2012 Structural basis for 5'-end-specific recognition of single-stranded DNA by the R3H domain from human S?bp-2.
22965130 2012 The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.
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