IGHMBP2

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.^[5][6]

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)[1] Band 11q13.3 Start 68,903,863 bp[1] End 68,940,602 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 A|19 3.03 cM Start 3,309,076 bp[2] End 3,333,017 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa body of uterus popliteal artery tibial arteries muscle layer of sigmoid colon ascending aorta sural nerve right coronary artery left coronary artery canal of the cervix Top expressed in lumbar spinal ganglion otic vesicle Rostral migratory stream saccule urethra male urethra tail of embryo ventricular zone spermatocyte muscle of thigh 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 [3] [4]
Wikidata
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Mutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 (distal hereditary motor neuropathy type VI).^[7]