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Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
EPB42 (Erythrocyte Membrane Protein Band 4.2) is a Protein Coding gene. Diseases associated with EPB42 include Spherocytosis, Type 5 and Hereditary Spherocytosis. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton and protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003810 | protein-glutamine gamma-glutamyltransferase activity | IBA | 21873635 |
GO:0005200 | structural constituent of cytoskeleton | TAS | 1350227 |
GO:0005515 | protein binding | IPI | 12646258 |
GO:0005524 | ATP binding | TAS | 8608138 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | TAS | 1350227 |
GO:0005886 | plasma membrane | TAS,IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0030863 | cortical cytoskeleton | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000902 | cell morphogenesis | IEA | -- |
GO:0007010 | cytoskeleton organization | IEA | -- |
GO:0008360 | regulation of cell shape | IEA | -- |
GO:0018149 | peptide cross-linking | IBA | 21873635 |
GO:0020027 | hemoglobin metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
cyclic amp | Experimental | Pharma | 0 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EPB42 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EPB42 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EPB42 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Epb4.2 30 31 |
|
OneToOne | |
Epb42 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Epb42 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | EPB42 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | EPB42 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EPB42 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | epb42 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tgm8 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
776883 | Likely Benign: not provided | 43,203,222(-) | C/T | MISSENSE_VARIANT | |
776884 | Benign: not provided | 43,209,365(-) | G/T | SYNONYMOUS_VARIANT | |
807229 | Uncertain Significance: Spherocytosis type 5; not provided | 43,206,561(-) | C/T | MISSENSE_VARIANT | |
811114 | Uncertain Significance: Spherocytosis type 5 | 43,208,655(-) | C/A | MISSENSE_VARIANT | |
811192 | Uncertain Significance: Spherocytosis type 5 | 43,207,393(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
spherocytosis, type 5 |
|
|
hereditary spherocytosis |
|
|
hemolytic anemia |
|
|
epb42-related hereditary spherocytosis |
|
|
congenital dyserythropoietic anemia |
|
|