Identity
HGNC
LOCATION
11q13.3
LOCUSID
ALIAS
CATF1,CMT2S,HCSA,HMN6,SMARD1,SMUBP2,ZFAND7
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3508
MIM: 600502
HGNC: 5542
Ensembl: ENSG00000132740
Variants:
dbSNP: 3508
ClinVar: 3508
TCGA: ENSG00000132740
COSMIC: IGHMBP2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000132740 | ENST00000255078 | P38935 |
| ENSG00000132740 | ENST00000539224 | F5GX64 |
| ENSG00000132740 | ENST00000544541 | F5H5K3 |
| ENSG00000132740 | ENST00000545146 | H3BRR1 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38368610 | 2024 | RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA homeostasis. | 2 |
| 38803225 | 2024 | IGHMBP2 deletion suppresses translation and activates the integrated stress response. | 0 |
| 38368610 | 2024 | RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA homeostasis. | 2 |
| 38803225 | 2024 | IGHMBP2 deletion suppresses translation and activates the integrated stress response. | 0 |
| 34668123 | 2022 | Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families. | 1 |
| 35660062 | 2022 | Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations. | 3 |
| 36077311 | 2022 | Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model. | 3 |
| 34668123 | 2022 | Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families. | 1 |
| 35660062 | 2022 | Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations. | 3 |
| 36077311 | 2022 | Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model. | 3 |
| 29575095 | 2019 | Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration. | 1 |
| 29575095 | 2019 | Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration. | 1 |
| 30218034 | 2018 | UPF1-like helicase grip on nucleic acids dictates processivity. | 28 |
| 30218034 | 2018 | UPF1-like helicase grip on nucleic acids dictates processivity. | 28 |
| 28065684 | 2017 | IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients. | 8 |
Citation
Dessen P
IGHMBP2 (immunoglobulin mu DNA binding protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/40935/ighmbp2
