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Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]
ITM2B (Integral Membrane Protein 2B) is a Protein Coding gene. Diseases associated with ITM2B include Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities and Cerebral Amyloid Angiopathy, Itm2b-Related, 1. Among its related pathways are Metabolism of proteins and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include amyloid-beta binding. An important paralog of this gene is ITM2C.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001540 | amyloid-beta binding | IPI | 19849849 |
GO:0005515 | protein binding | IPI | 16027166 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IDA | 18524908 |
GO:0005768 | endosome | IEA | -- |
GO:0005794 | Golgi apparatus | IBA,IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
2 | Metabolism of proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007399 | nervous system development | TAS | 10391242 |
GO:0042985 | negative regulation of amyloid precursor protein biosynthetic process | IDA | 16027166 |
GO:0044267 | cellular protein metabolic process | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: | |||||||||||||||||
SP3: | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ITM2B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ITM2B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ITM2B 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ITM2B 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Itm2b 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Itm2b 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ITM2B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ITM2B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ITM2B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | itm2b 30 |
|
||
MGC76131 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | itm2b-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | itm2ba 30 31 |
|
OneToMany | |
itm2bb 31 |
|
OneToMany | |||
wufc05f02 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10389 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3662 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | C25F6.7 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
718098 | Benign: not provided | 48,233,452(+) | C/A | MISSENSE_VARIANT | |
770236 | Benign: not provided | 48,256,254(+) | A/G | SYNONYMOUS_VARIANT | |
807008 | Uncertain Significance: not provided | 48,261,197(+) | T/C | SYNONYMOUS_VARIANT | |
rs104894417 | Pathogenic: ABri amyloidosis | 48,261,222(+) | T/A | STOP_LOST | |
rs606231166 | Pathogenic: ADan amyloidosis | 48,261,208(+) | C/CTTTAATTTGT | FRAMESHIFT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities |
|
|
cerebral amyloid angiopathy, itm2b-related, 1 |
|
|
cerebral amyloid angiopathy, itm2b-related, 2 |
|
|
cerebral amyloid angiopathy, cst3-related |
|
|
dementia |
|