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)
End	68,940,602 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	3,333,017 bp
RNA expression pattern
	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
	; ;
	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
	3508
	20589
	ENSG00000132740
	ENSMUSG00000024831
	P38935
	P40694
	NM_002180
	NM_009212
	NP_002171
	n/a
	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).