IGHMBP2

IGHMBP2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1MSZ, 2LRR, 4B3F, 4B3G
Identifiers
Aliases	IGHMBP2, CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, CMT2S, immunoglobulin mu binding protein 2, immunoglobulin mu DNA binding protein 2
External IDs	OMIM: 600502; MGI: 99954; HomoloGene: 1642; GeneCards: IGHMBP2; OMA:IGHMBP2 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11q13.3 Start 68,903,863 bp End 68,940,602 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19 A|19 3.03 cM Start 3,309,076 bp End 3,333,017 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa popliteal artery ascending aorta sural nerve right coronary artery left coronary artery canal of the cervix ganglionic eminence left uterine tube transverse colon Top expressed in saccule urethra male urethra spermatocyte morula neural tube superior frontal gyrus primitive streak secondary oocyte lip More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding nucleotide binding ATP-dependent activity, acting on DNA 5'-3' DNA helicase activity helicase activity 5'-3' RNA helicase activity ribosome binding tRNA binding zinc ion binding transcription factor binding metal ion binding single-stranded DNA binding DNA helicase activity protein binding RNA binding nucleic acid binding hydrolase activity ATP binding ATP-dependent activity, acting on RNA Cellular component cytoplasm cell projection membrane growth cone SMN complex axon nucleus ribonucleoprotein complex Biological process DNA recombination regulation of transcription, DNA-templated transcription, DNA-templated DNA replication protein homooligomerization DNA repair DNA duplex unwinding protein biosynthesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3508 20589 Ensembl ENSG00000132740 ENSMUSG00000024831 UniProt P38935 P40694 RefSeq (mRNA) NM_002180 NM_009212 RefSeq (protein) NP_002171 n/a Location (UCSC) Chr 11: 68.9 – 68.94 Mb Chr 19: 3.31 – 3.33 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

DNA-binding protein SMUBP-2, also known as immunoglobulin helicase μ-binding protein 2 (IGHMBP2) and cardiac transcription factor 1 (CATF1) – is a protein that in humans is encoded by the IGHMBP2 gene.

Mutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 (distal hereditary motor neuropathy type VI).

Further reading

• Ohtsubo S, Iida A, Nitta K, Tanaka T, Yamada R, Ohnishi Y, Maeda S, Tsunoda T, Takei T, Obara W, Akiyama F, Ito K, Honda K, Uchida K, Tsuchiya K, Yumura W, Ujiie T, Nagane Y, Miyano S, Suzuki Y, Narita I, Gejyo F, Fujioka T, Nihei H, Nakamura Y (2004). "Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy". Journal of Human Genetics. 50 (1): 30–5. doi:10.1007/s10038-004-0214-8. PMID 15599641.
• Tachi N, Kikuchi S, Kozuka N, Nogami A (April 2005). "A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1". Pediatric Neurology. 32 (4): 288–90. doi:10.1016/j.pediatrneurol.2004.11.003. PMID 15797190.
• Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L (May 2004). "Allelic heterogeneity of SMARD1 at the IGHMBP2 locus". Human Mutation. 23 (5): 525–6. doi:10.1002/humu.9241. PMID 15108294.
• Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R (September 2004). "Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1". Human Genetics. 115 (4): 319–26. doi:10.1007/s00439-004-1156-0. PMID 15290238.
• Shen J, Terry MB, Gammon MD, Gaudet MM, Teitelbaum SL, Eng SM, Sagiv SK, Neugut AI, Santella RM (September 2006). "IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk". Breast Cancer Research and Treatment. 99 (1): 1–7. doi:10.1007/s10549-006-9174-3. PMID 16752224.