Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | EPB42 | contributors: - updated : 27-09-2005 |
HGNC name | erythrocyte membrane protein band 4.2 |
HGNC id | 3381 |
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Corresponding disease |
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Location | 15q15 Physical location : 43.489.427 - 43.513.323 | ||
Synonym symbol(s) | PA |
DNA |
TYPE | functioning gene |
SPECIAL FEATURE | arranged in tandem |
text | arranged in tandem with TGM5 and TGM7 |
STRUCTURE | 24.00 kb 13 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | restricted |
constitutive of |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cells |
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cell lineage
cell lines
| fluid/secretion
| blood | |
at STAGE |
physiological period | fetal |
Text | liver, eye |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
| a spectrin-binding domain |
conjugated | LipoP , PhosphoP |
mono polymer | dimer , oligo |
HOMOLOGY |
interspecies | ortholog to murine Epb4.2 |
Homologene |
FAMILY |
CATEGORY | regulatory , structural protein |
SUBCELLULAR LOCALIZATION | plasma membrane |
intracellular | |
intracellular,cytoplasm,cytoskeleton | |
text | red blood cell membrane skeleton |
basic FUNCTION | |
|
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule | nucleotide, |
protein | |
| |
|
cell & other |
REGULATION |
Other | phosphorylated by both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells |
ASSOCIATED DISORDERS |
corresponding disease(s) | SPH5 |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |
in mutant cno/cno mice, the C-terminal 81 amino acids are replaced with 72 different amino acids in the mutant CNO protein, and its ability to interact in BLOC-1 is abolished |