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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 the... See more...
Aliases for AMPH Gene
Aliases for AMPH Gene
External Ids for AMPH Gene
- HGNC: 471
- Entrez Gene: 273
- Ensembl: ENSG00000078053
- OMIM: 600418
- UniProtKB: P49418
Previous GeneCards Identifiers for AMPH Gene
- GC07M038069
- GC07M038130
- GC07M038164
- GC07M038196
- GC07M038389
- GC07M038423
- GC07M038307
- GC07M038442
- GC07M038464
- GC07M038587
- GC07M038599
- GC07M038614
- GC07M038638
- GC07M038479
- GC07M038492
- GC07M038506
- GC07M038518
- GC07M038530
- GC07M038548
- GC07M038561
- GC07M038575
Summaries for AMPH Gene
-
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]
GeneCards Summary for AMPH Gene
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.
UniProtKB/Swiss-Prot Summary for AMPH Gene
-
May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton.
Additional gene information for AMPH Gene
- HGNC(471)
- Entrez Gene(273)
- Ensembl(ENSG00000078053)
- OMIM(600418)
- UniProtKB(P49418)
- Open Targets Platform(ENSG00000078053)
- Search for AMPH at DataMed
- Search for AMPH at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMPH Gene
Genomics for AMPH Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for AMPH Gene
| 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 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around AMPH on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMPH
- Top Transcription factor binding sites by QIAGEN in the AMPH gene promoter:
-
- AP-1
- AP-2alpha
- AP-2alpha isoform 2
- AP-2alpha isoform 4
- CUTL1
- p53
Genomic Locations for AMPH Gene
Genomic Locations for AMPH Gene
- chr7:38,383,694-38,631,567
- (GRCh38/hg38)
- Size:
- 247,874 bases
- Orientation:
- Minus strand
- chr7:38,423,297-38,671,167
- (GRCh37/hg19)
- Size:
- 247,871 bases
- Orientation:
- Minus strand
Genomic View for AMPH Gene
Genes around AMPH on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p14.1 by HGNC
- 7p14.1 by Entrez Gene
- 7p14.1 by Ensembl
AMPH Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AMPH Gene
Proteins for AMPH Gene
-
Protein details for AMPH Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P49418-AMPH_HUMAN
- Recommended name:
- Amphiphysin
- Protein Accession:
- P49418
- A4D1X8
- A4D1X9
- O43538
- Q75MJ8
- Q75MK5
- Q75MM3
- Q8N4G0
Protein attributes for AMPH Gene
- Size:
- 695 amino acids
- Molecular mass:
- 76257 Da
- Quaternary structure:
-
- Heterodimer with BIN1 (By similarity). Binds SH3GLB1 (By similarity). Interacts with REPS1 and SGIP1(PubMed:20946875). Binds AP2A2 (PubMed:12057195). Interacts with AP2B1 (PubMed:16903783). Interacts with DNM1 AND SYNJ1 (By similarity).
- Miscellaneous:
-
- Antibodies against AMPH are detected in patients with stiff-man syndrome, a rare disease of the central nervous system characterized by progressive rigidity of the body musculature with superimposed painful spasms.
Three dimensional structures from OCA and Proteopedia for AMPH Gene
Protein Expression for AMPH Gene
Post-translational modifications for AMPH Gene
Other Protein References for AMPH Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ AMPH Antibody
-
Custom Antibody ServicesOriGene Antibodies for AMPH
- Novus Biologicals Antibodies for AMPH
-
Abcam antibodies for AMPH
- Invitrogen Antibodies for AMPH (AFLGC-Amph)
-
Boster Bio Antibodies for AMPH
-
Santa Cruz Biotechnology (SCBT) Antibodies for AMPH
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for AMPH
- Origene Custom Protein Services for AMPH
-
Signalway Proteins for AMPH
-
Abcam proteins for AMPH
Assay Products
- G Biosciences Immunotag™ Human anti AMPH (anti amphiphysin) ELISA
- Novus Biologicals ELISA Kits for AMPH
- antibodies-online: Show 5 available Amphiphysin Elisa Kits ranked by validation data
- Compare Top Amphiphysin Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for AMPH Gene
Domains & Families for AMPH Gene
Gene Families for AMPH Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Predicted intracellular proteins
Protein Domains for AMPH Gene
- InterPro:
- Blocks:
-
- SH3 domain signature
- Amphiphysin signature
- Amphiphysin isoform 1 signature
- ProtoNet:
Suggested Antigen Peptide Sequences for AMPH Gene
- GenScript: Design optimal peptide antigens:
-
- Amphiphysin (AMPH_HUMAN)
- Amphiphysin I variant NT2 (Q8NFL3_HUMAN)
- Amphiphysin I variant NC1 (Q8NFL4_HUMAN)
- Amphiphysin I variant CT5 (Q8NFL5_HUMAN)
- Amphiphysin I variant CT4 (Q8NFL6_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AMPH Gene
Function for AMPH Gene
Molecular function for AMPH Gene
- UniProtKB/Swiss-Prot Function:
- May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton.
- GENATLAS Biochemistry:
- amphiphysin,nerve terminal,synaptic vesicle associated antigen,involved in synaptic vesicle endocytosis in the nerve terminals,by binding to the coat protein adaptor
Phenotypes From GWAS Catalog for AMPH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 17762867 |
| GO:0005543 | phospholipid binding | IDA | 22750946 |
Phenotypes for AMPH Gene
- MGI mutant phenotypes for AMPH:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AMPH:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Negative genetic interaction between BLM-/- and BLM+/+
- Synthetic lethal with Ras
- Increased epidermal growth factor receptor (EGFR) surface abundance
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
Animal Models for AMPH Gene
- MGI Knock Outs for AMPH:
-
- Amph Amph<tm1Pdc>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AMPH - Select products 50% OFF >
- * AMPH CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AMPH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AMPH
-
Santa Cruz Biotechnology (SCBT) CRISPR for AMPH
miRNA for AMPH Gene
- miRTarBase miRNAs that target AMPH
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AMPH
- Browse OriGene Inhibitory RNA Products For AMPH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMPH
Clone Products
- Applied Biological Materials (abm): Clones for AMPH - Select products 50% OFF >
- * AMPH as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210042
- MR210042
- MR210042L3
- MR210042L4
- MR230895
- RC206620
- RC206620L1
- RC206620L2
- RC206620L3
- RC206620L4
- RC220048
- RC220048L3
- RC220048L4
- RG206620
- RG220048
- RR210952
- RR210952L3
- RR210952L4
- MR210042L3V
- MR210042L4V
- RC206620L1V
- RC206620L2V
- RC206620L3V
- RC206620L4V
- RC220048L3V
- RC220048L4V
- RR210952L3V
- RR210952L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AMPH
- Addgene plasmids for AMPH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AMPH
Cell Line Products
-
Horizon Cell Lines for AMPH
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AMPH Gene
Localization for AMPH Gene
Subcellular locations from UniProtKB/Swiss-Prot for AMPH Gene
- Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Peripheral membrane protein. Cytoplasmic side. Cytoplasm, cytoskeleton.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 3 |
| endosome | 3 |
| extracellular | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
- Cytosol (3)
- Plasma membrane (2)
| 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 |
Pathways & Interactions for AMPH Gene
| 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 | ||
Pathways by source for AMPH Gene
2 BioSystems pathways for AMPH Gene
3 Reactome pathways for AMPH Gene
2 KEGG pathways for AMPH Gene
1 Qiagen pathway for AMPH Gene
- CDK5 Pathway
Interacting Proteins for AMPH Gene
Selected Interacting proteins:
P49418-AMPH_HUMAN
ENSP00000348602
for AMPH Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for AMPH
SIGNOR curated interactions for AMPH Gene
| 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 | -- |
Transcripts for AMPH Gene
mRNA/cDNA for AMPH Gene
- 2 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000325590 3145 nts (view in UCSC)
- ENST00000356264 3224 nts (view in UCSC)
- ENST00000441628 1735 nts (view in UCSC)
- ENST00000460887 430 nts (view in UCSC)
- ENST00000475581 544 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AMPH - Select products 50% OFF >
- * AMPH CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AMPH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AMPH
-
Santa Cruz Biotechnology (SCBT) CRISPR for AMPH
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AMPH
- Browse OriGene Inhibitory RNA Products For AMPH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMPH
Clone Products
- Applied Biological Materials (abm): Clones for AMPH - Select products 50% OFF >
- * AMPH as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210042
- MR210042
- MR210042L3
- MR210042L4
- MR230895
- RC206620
- RC206620L1
- RC206620L2
- RC206620L3
- RC206620L4
- RC220048
- RC220048L3
- RC220048L4
- RG206620
- RG220048
- RR210952
- RR210952L3
- RR210952L4
- MR210042L3V
- MR210042L4V
- RC206620L1V
- RC206620L2V
- RC206620L3V
- RC206620L4V
- RC220048L3V
- RC220048L4V
- RR210952L3V
- RR210952L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AMPH
- Addgene plasmids for AMPH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AMPH
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||
| SP2: | |||||||||||||||||
| SP3: |
Relevant External Links for AMPH Gene
- GeneLoc Exon Structure for
- AMPH
Expression for AMPH Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Kidney (Urinary System)
- S-shaped Body Cells S-shaped Body
- S-shaped Body
-
Somite (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
- Bone (Muscoskeletal System)
- Dermis (Integumentary System)
- Fibroblasts
-
Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for AMPH Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.5), Brain - Anterior cingulate cortex (BA24) (x5.8), Brain - Cortex (x5.4), and Brain - Cerebellar Hemisphere (x4.8).
This gene is overexpressed in Brain (41.4) and Frontal cortex (21.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AMPH Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMPH
SOURCE GeneReport for Unigene cluster for AMPH Gene:
Hs.592182mRNA Expression by UniProt/SwissProt for AMPH Gene:
P49418-AMPH_HUMAN
Tissue specificity:
Neurons, certain endocrine cell types and spermatocytes.
Evidence on tissue expression from TISSUES for AMPH Gene
- Nervous system(5)
- Blood(3.1)
- Muscle(2.5)
- Kidney(2.3)
- Eye(2.3)
- Pancreas(2.3)
- Skin(2.2)
- Heart(2.1)
- Thyroid gland(2.1)
- Liver(2.1)
- Adrenal gland(2)
- Intestine(2)
Primer Products
-
OriGene qPCR primer pairs for AMPH
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AMPH Gene
Orthologs for AMPH Gene
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 |
- Species where no ortholog for AMPH was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for AMPH Gene
- ENSEMBL:
- Gene Tree for AMPH (if available)
- TreeFam:
- Gene Tree for AMPH (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for AMPH: view image
Paralogs for AMPH Gene
(2) SIMAP similar genes for AMPH Gene using alignment to 10 proteins:
- AMPH_HUMAN
- F5H533_HUMAN
- H0Y5S4_HUMAN
- H0Y7T8_HUMAN
- Q8NFL3_HUMAN
- Q8NFL4_HUMAN
- Q8NFL5_HUMAN
- Q8NFL6_HUMAN
- Q8NFL7_HUMAN
- Q8NFL8_HUMAN
Pseudogenes.org Pseudogenes for AMPH Gene
Variants for AMPH Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMPH Gene
| 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 |
Residual Variation Intolerance Score:
32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.20;
69.83% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AMPH Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- AMPH
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMPH Gene
Disorders for AMPH Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| stiff-person syndrome |
|
|
| limbic encephalitis |
|
|
| plexopathy |
|
|
| retinitis pigmentosa 9 |
|
|
| lambert-eaton myasthenic syndrome |
|
|
Search AMPH in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AMPH
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for AMPH Gene
Publications for AMPH Gene
- Expression of amphiphysin I, an autoantigen of paraneoplastic neurological syndromes, in breast cancer. (PMID: 9513187) Floyd S … De Camilli P (Molecular medicine (Cambridge, Mass.) 1998) 3 4 23
- Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14. (PMID: 7757077) Yamamoto R … Kilimann MW (Human molecular genetics 1995) 3 4 23
- Autoimmunity in stiff-Man syndrome with breast cancer is targeted to the C-terminal region of human amphiphysin, a protein similar to the yeast proteins, Rvs167 and Rvs161. (PMID: 8076697) David C … De Camilli P (FEBS letters 1994) 3 4 23
- The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer. (PMID: 8245793) De Camilli P … Kilimann MW (The Journal of experimental medicine 1993) 2 3 23
- Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits. (PMID: 20946875) Dergai O … Rynditch A (Biochemical and biophysical research communications 2010) 3 4
ExternalLinks
Products for AMPH Gene
- Custom Antibody ServicesOriGene Antibodies for AMPH
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for AMPH
- Origene Custom Protein Services for AMPH
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AMPH
- Browse OriGene Inhibitory RNA Products For AMPH
- OriGene qPCR primer pairs for AMPH
- OriGene CRISPR knockouts for AMPH
- MG210042
- MR210042
- MR210042L3
- MR210042L4
- MR230895
- RC206620
- RC206620L1
- RC206620L2
- RC206620L3
- RC206620L4
- RC220048
- RC220048L3
- RC220048L4
- RG206620
- RG220048
- RR210952
- RR210952L3
- RR210952L4
- MR210042L3V
- MR210042L4V
- RC206620L1V
- RC206620L2V
- RC206620L3V
- RC206620L4V
- RC220048L3V
- RC220048L4V
- RR210952L3V
- RR210952L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For AMPH
- Sino Biological Human cDNA Clone for AMPH
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for AMPH
- Novus Biologicals proteins and lysates for AMPH
- Novus Biologicals ELISA Kits for AMPH
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- Abcam antibodies for AMPH
- Abcam proteins for AMPH
- Find your target
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- Invitrogen Antibodies for AMPH (AFLGC-Amph)
- VectorBuilder Custom and pre-made DNA vectors for AMPH (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for AMPH (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for AMPH (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for AMPH CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for AMPH
- Addgene plasmids for AMPH
- antibodies-online: Show 39 available Amphiphysin Antibodies ranked by validation data
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- antibodies-online: Show 5 available Amphiphysin Elisa Kits ranked by validation data
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- antibodies-online: Show 12 available Amphiphysin Proteins ranked by validation data
- Compare Top Amphiphysin Proteins
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- Santa Cruz Biotechnology (SCBT) Antibodies for AMPH
- Search Santa Cruz Biotechnology (SCBT) for AMPH siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for AMPH
- Horizon Cell Lines for AMPH
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AMPH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AMPH
- Search GeneCopoeia for miRNA 3'UTR Target clone products for AMPH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMPH
- Boster Bio Antibodies for AMPH
- Browse Boster Bio ELISA Kits
- Signalway Proteins for AMPH
Sources for AMPH Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB