IGHMBP2
Sign in to saveAlso known as CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, CMT2S, immunoglobulin mu binding protein 2
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.
Gene data
IGHMBP2- Name
- immunoglobulin mu DNA binding protein 2
- Type
- protein-coding
- Position
- 68,903,863–68,940,602 (+)
- Aliases
- CATF1, CMT2S, HCSA, HMN6, HMNR1, SMARD1, SMUBP2, ZFAND7
- Ensembl
- ENSG00000132740
- RefSeq RNA
- NM_002180.3, XM_005273975.4, XM_005273976.3, XM_011544994.2, XM_017017670.3
- RefSeq protein
- NP_002171.2, XP_005274032.1, XP_005274033.1, XP_011543296.1, XP_016873159.1
This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
immunoglobulin mu DNA binding protein 2
- Symbol
- IGHMBP2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 11:68,903,863-68,940,602
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein IGHMBP2 PDB 1msz.png
Show 8 more facts
- HomoloGene ID
- 1642
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/3508
- genomic end
- 68708070
- genomic start
- 68903863
- chromosome
- human chromosome 11
- cytogenetic location
- 11q13.3
- expressed in
- canal of the cervix
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
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).
Excerpted from Wikipedia’s “IGHMBP2” article, available under the CC BY-SA 4.0 licence.