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This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]
AMPH (Amphiphysin) is a Protein Coding gene. Diseases associated with AMPH include Stiff-Person Syndrome and Limbic Encephalitis. Among its related pathways are Monoamine Transport and Fc gamma R-mediated phagocytosis. Gene Ontology (GO) annotations related to this gene include phospholipid binding. An important paralog of this gene is BIN1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH07J038630 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.7 | 666 | 1.8 | PRDM10 ZNF629 PRDM1 ZIC2 POLR2A PATZ1 ZNF501 EZH2 ZNF341 KLF9 | AMPH RF00017-6127 TRG | |
GH07J038429 | Promoter | 0.3 | EPDnew | 600.1 | +202.3 | 202304 | 0.1 | AMPH FAM183BP L13714-407 lnc-VPS41-6 TRG | ||
GH07J038463 | Enhancer | 0.4 | ENCODE | 55.7 | +168.0 | 167955 | 1 | NFIC JUNB BCL6B | AMPH FAM183BP piR-38352-511 L13714-407 TRG | |
GH07J038452 | Enhancer | 0.4 | Ensembl ENCODE | 45 | +178.5 | 178516 | 1.5 | CTCF | AMPH TRGV5P L13714-407 piR-38352-511 TRG | |
GH07J038433 | Enhancer | 0.4 | ENCODE | 41.9 | +197.6 | 197635 | 0.3 | CTCF RAD21 SMC3 TRIM22 | L13714-407 AMPH FAM183BP piR-38352-511 TRG |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 17762867 |
GO:0005543 | phospholipid binding | IDA | 22750946 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0008021 | synaptic vesicle | TAS,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | Endocytosis | ||
3 | Fc gamma R-mediated phagocytosis | ||
4 | Beta-Adrenergic Signaling |
CDK5 Pathway
.37
|
|
5 | Clathrin-mediated endocytosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006897 | endocytosis | TAS | 9182667 |
GO:0007268 | chemical synaptic transmission | TAS | 9182667 |
GO:0048488 | synaptic vesicle endocytosis | IBA | 21873635 |
GO:0061024 | membrane organization | TAS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: | |||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AMPH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AMPH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AMPH 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Amph 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Amph 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AMPH 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AMPH 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AMPH 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AMPH 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | amph 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14350 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | amph 30 31 |
|
OneToOne | |
zgc73193 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Amph 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | amph-1 30 31 |
|
OneToMany | |
F58G6.1 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3172 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711336 | Likely Benign: not provided | 38,391,869(-) | G/A | MISSENSE_VARIANT | |
722907 | Likely Benign: not provided | 38,534,939(-) | G/A | MISSENSE_VARIANT | |
723805 | Likely Benign: not provided | 38,432,190(-) | G/A | MISSENSE_VARIANT | |
727314 | Likely Benign: not provided | 38,463,011(-) | C/T | SYNONYMOUS_VARIANT | |
731328 | Benign: not provided | 38,394,163(-) | C/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
stiff-person syndrome |
|
|
limbic encephalitis |
|
|
plexopathy |
|
|
retinitis pigmentosa 9 |
|
|
lambert-eaton myasthenic syndrome |
|
|