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This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] See more...
Aliases for AOPEP Gene
Aliases for AOPEP Gene
External Ids for AOPEP Gene
- HGNC: 1361
- NCBI Entrez Gene: 84909
- Ensembl: ENSG00000148120
- UniProtKB/Swiss-Prot: Q8N6M6
Previous HGNC Symbols for AOPEP Gene
- C9orf3
Summaries for AOPEP Gene
-
This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
GeneCards Summary for AOPEP Gene
AOPEP (Aminopeptidase O (Putative)) is a Protein Coding gene. Diseases associated with AOPEP include Tracheoesophageal Fistula With Or Without Esophageal Atresia and Fanconi Anemia, Complementation Group C. Among its related pathways are Peptide hormone metabolism and Hepatitis C and Hepatocellular Carcinoma. An important paralog of this gene is RNPEP.
UniProtKB/Swiss-Prot Summary for AOPEP Gene
-
Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart.
Additional gene information for AOPEP Gene
- HGNC (1361)
- NCBI Entrez Gene (84909)
- Ensembl (ENSG00000148120)
- UniProtKB/Swiss-Prot (Q8N6M6)
- Open Targets Platform(ENSG00000148120)
- Monarch Initiative
- Alliance of Genome Resources
- Search for AOPEP at DataMed
- Search for AOPEP at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AOPEP Gene
Genomics for AOPEP Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for AOPEP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around AOPEP on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AOPEP
Genomic Locations for AOPEP Gene
Latest Assembly
- chr9:94,726,604-95,148,264
- (GRCh38/hg38)
- Size:
- 421,661 bases
- Orientation:
- Plus strand
Previous Assembly
- chr9:97,488,981-97,849,441
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 360,461 bases
- Orientation:
- Plus strand
Genomic View for AOPEP Gene
Genes around AOPEP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q22.32 by HGNC
- 9q22.32 by Entrez Gene
- 9q22.32 by Ensembl
AOPEP 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 AOPEP Gene
Proteins for AOPEP Gene
-
Protein details for AOPEP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8N6M6-AMPO_HUMAN
- Recommended name:
- Aminopeptidase O
- Protein Accession:
- Q8N6M6
- Q5T9B1
- Q5T9B3
- Q5T9B4
- Q8WUL6
- Q96M23
- Q96SS1
Protein attributes for AOPEP Gene
- Size:
- 819 amino acids
- Molecular mass:
- 93572 Da
- Cofactor:
- Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAH20194.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55210.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Post-translational modifications for AOPEP Gene
Other Protein References for AOPEP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_011517423.1
- XP_011517424.1
- XP_011517425.1
- XP_011517429.1
- XP_011517432.1
- XP_011517434.1
- XP_011517436.1
- XP_016870718.1
- XP_016870720.1
- XP_016870721.1
- XP_016870722.1
- XP_016870723.1
- XP_016870724.1
- XP_016870725.1
- XP_016870726.1
- NP_001180258.1
- NP_001180260.1
- NP_001372990.1
- NP_001372991.1
- NP_001372992.1
- NP_001372995.1
- NP_001372996.1
- NP_001372997.1
- NP_001372998.1
- NP_001372999.1
- NP_001373000.1
- NP_001373001.1
- NP_001373002.1
- NP_001373003.1
- NP_001373004.1
- NP_001373005.1
- NP_116212.3
Antibodies for research
- Novus Biologicals Antibodies for AOPEP
-
Abcam antibodies for AOPEP
- Invitrogen Antibodies for AOPEP (AFLGC-AOPEP)
-
Boster Bio Antibodies for AOPEP
-
Custom Antibody ServicesProSci Antibodies for AOPEP
- Sino Biological Antibodies for AOPEP
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for AOPEP
- Origene Custom Protein Services for AOPEP
- antibodies-online: Show 4 available C9orf3 Proteins ranked by validation data
- Compare Top C9orf3 Proteins
-
Quality Products:
-
Abcam proteins for AOPEP
Assay products for research
- RayBiotech Custom Human Aminopeptidase O ELISA
- antibodies-online: Show 21 available C9orf3 Elisa Kits ranked by validation data
- Compare Top C9orf3 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for AOPEP Gene
Domains & Families for AOPEP Gene
Gene Families for AOPEP Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for AOPEP Gene
- InterPro:
- Blocks:
-
- Membrane alanyl dipeptidase (M1) family signature
Suggested Antigen Peptide Sequences for AOPEP Gene
- GenScript: Design optimal peptide antigens:
-
- Aminopeptidase O (AMPO_HUMAN)
- cDNA FLJ55832, highly similar to Aminopeptidase O (EC 3.4.11.-) (B4DKT1_HUMAN)
- cDNA FLJ52730, highly similar to Aminopeptidase O (EC 3.4.11.-) (B4DQU3_HUMAN)
- cDNA FLJ52757, highly similar to Aminopeptidase O (EC 3.4.11.-) (B4DU39_HUMAN)
- Chromosome 9 open reading frame 3 (Q5JTU2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8N6M6- Family:
-
- Belongs to the peptidase M1 family.
Function for AOPEP Gene
Molecular function for AOPEP Gene
- UniProtKB/Swiss-Prot Function:
- Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=6 uM for Arg-AMC {ECO:0000305|PubMed:15687497};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Strongly inhibited by ophenanthroline, a metalloprotease inhibitor. Inhibited by arphamenine A, a potent inhibitor of aminopeptidases. Not affected by AEBSF and E-64, which are common inhibitors of serine- and cysteine-proteases, respectively.
Enzyme Numbers (IUBMB) for AOPEP Gene
Phenotypes From GWAS Catalog for AOPEP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004177 | aminopeptidase activity | IEA | -- |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008237 | metallopeptidase activity | IEA | -- |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for AOPEP Gene
- MGI mutant phenotypes for AOPEP:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for AOPEP:
Animal Models for AOPEP Gene
- MGI Knock Outs for AOPEP:
-
- Aopep Aopep<tm1b(KOMP)Wtsi>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for AOPEP - Starting at $85 >
- * AOPEP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for AOPEP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AOPEP
miRNA for AOPEP Gene
- miRTarBase miRNAs that target AOPEP
-
- hsa-miR-218-5p (MIRT441032)
- hsa-miR-6820-5p (MIRT490229)
- hsa-miR-6722-3p (MIRT490230)
- hsa-miR-1909-3p (MIRT490231)
- hsa-miR-6087 (MIRT490232)
- hsa-miR-761 (MIRT490233)
- hsa-miR-3619-5p (MIRT490234)
- hsa-miR-214-3p (MIRT490235)
- hsa-miR-6510-5p (MIRT490236)
- hsa-miR-6089 (MIRT499913)
- hsa-miR-6856-5p (MIRT499914)
- hsa-miR-6758-5p (MIRT499915)
- hsa-miR-518f-3p (MIRT499916)
- hsa-miR-518c-3p (MIRT499917)
- hsa-miR-518d-3p (MIRT499918)
- hsa-miR-518b (MIRT499919)
- hsa-miR-518a-3p (MIRT499920)
- hsa-miR-6849-3p (MIRT518218)
- hsa-miR-4293 (MIRT518220)
- hsa-miR-6771-3p (MIRT518221)
- hsa-miR-3180-5p (MIRT530897)
- hsa-miR-2355-5p (MIRT530898)
- hsa-miR-1236-3p (MIRT530899)
- hsa-miR-6893-3p (MIRT530900)
- hsa-miR-370-3p (MIRT530901)
- hsa-miR-4793-5p (MIRT530902)
- hsa-miR-510-5p (MIRT530903)
- hsa-miR-4786-5p (MIRT542241)
- hsa-miR-6848-3p (MIRT672317)
- hsa-miR-6843-3p (MIRT672318)
- hsa-miR-640 (MIRT672319)
- hsa-miR-378a-5p (MIRT672320)
- hsa-miR-1193 (MIRT672321)
- hsa-miR-6821-3p (MIRT672322)
- hsa-miR-6790-3p (MIRT672323)
- hsa-miR-1976 (MIRT672324)
- hsa-miR-3653-5p (MIRT672325)
- hsa-miR-7107-5p (MIRT672326)
- hsa-miR-1234-3p (MIRT672327)
- hsa-miR-1224-3p (MIRT672328)
- hsa-miR-2392 (MIRT672329)
- hsa-miR-1306-5p (MIRT762453)
- hsa-miR-1343-3p (MIRT762563)
- hsa-miR-23a-5p (MIRT764015)
- hsa-miR-23b-5p (MIRT764033)
- hsa-miR-4264 (MIRT768210)
- hsa-miR-4279 (MIRT768291)
- hsa-miR-4722-3p (MIRT771459)
- hsa-miR-4740-3p (MIRT771852)
- hsa-miR-498 (MIRT772817)
- hsa-miR-622 (MIRT776074)
- hsa-miR-660-3p (MIRT777385)
- hsa-miR-6727-3p (MIRT777861)
- hsa-miR-6742-3p (MIRT778126)
- hsa-miR-6747-3p (MIRT778250)
- hsa-miR-6783-3p (MIRT779067)
- hsa-miR-6852-5p (MIRT780453)
- hsa-miR-939-3p (MIRT782787)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AOPEP
- Browse OriGene Inhibitory RNA Products For AOPEP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AOPEP
Clone products for research
- Applied Biological Materials (abm): Clones for AOPEP - Starting at $45 >
- * AOPEP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG215648
- MR215648
- MR215648L3
- MR215648L4
- MR231218
- MR231219
- RC202214
- RC202214L1
- RC202214L2
- RC202214L3
- RC202214L4
- RC231317
- RC231317L3
- RC231317L4
- RC231419
- RC231419L3
- RC231419L4
- RG202214
- RG231317
- RG231419
- MR215648L3V
- MR215648L4V
- RC202214L1V
- RC202214L2V
- RC202214L3V
- RC202214L4V
- RC231317L3V
- RC231317L4V
- RC231419L3V
- RC231419L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AOPEP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AOPEP
Cell Lines for research
-
Horizon Cell Lines for AOPEP
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AOPEP Gene
Localization for AOPEP Gene
Subcellular locations from UniProtKB/Swiss-Prot for AOPEP Gene
- Nucleus, nucleolus.
- [Isoform 3]: Cytoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 4 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
- Cell Junctions (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005730 | nucleolus | IEA,ISS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for AOPEP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide hormone metabolism | ||
| 2 | Metabolism of proteins | ||
| 3 | Hepatitis C and Hepatocellular Carcinoma | ||
Pathways by source for AOPEP Gene
1 BioSystems pathway for AOPEP Gene
3 Reactome pathways for AOPEP Gene
Interacting Proteins for AOPEP Gene
GPS-Prot Interaction Network for AOPEP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002003 | angiotensin maturation | TAS | -- |
| GO:0006508 | proteolysis | IEA | -- |
No data available for SIGNOR curated interactions for AOPEP Gene
Drugs & Compounds for AOPEP Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| angiotensin III | Pharma | 0 |
Transcripts for AOPEP Gene
mRNA/cDNA for AOPEP Gene
- 18 REFSEQ mRNAs :
- 22 NCBI additional mRNA sequence :
- 21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000277198 1966 nts (view in UCSC)
- ENST00000297979 2820 nts (view in UCSC)
- ENST00000375315 3225 nts (view in UCSC)
- ENST00000424143 1605 nts (view in UCSC)
- ENST00000427193 704 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for AOPEP - Starting at $85 >
- * AOPEP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for AOPEP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AOPEP
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AOPEP
- Browse OriGene Inhibitory RNA Products For AOPEP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AOPEP
Clone products for research
- Applied Biological Materials (abm): Clones for AOPEP - Starting at $45 >
- * AOPEP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG215648
- MR215648
- MR215648L3
- MR215648L4
- MR231218
- MR231219
- RC202214
- RC202214L1
- RC202214L2
- RC202214L3
- RC202214L4
- RC231317
- RC231317L3
- RC231317L4
- RC231419
- RC231419L3
- RC231419L4
- RG202214
- RG231317
- RG231419
- MR215648L3V
- MR215648L4V
- RC202214L1V
- RC202214L2V
- RC202214L3V
- RC202214L4V
- RC231317L3V
- RC231317L4V
- RC231419L3V
- RC231419L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AOPEP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AOPEP
Relevant External Links for AOPEP Gene
- GeneLoc Exon Structure for
- AOPEP
Expression for AOPEP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AOPEP
SOURCE GeneReport for Unigene cluster for AOPEP Gene:
Hs.434253mRNA Expression by UniProt/SwissProt for AOPEP Gene:
Q8N6M6-AMPO_HUMAN
Tissue specificity:
Predominantly expressed in pancreas, placenta, liver, testis and heart. Expressed at lower level in brain, lung and kidney.
Evidence on tissue expression from TISSUES for AOPEP Gene
- Muscle(4.5)
- Nervous system(4.4)
- Lung(4.3)
- Heart(2.7)
- Skin(2.3)
- Kidney(2)
Primer products for research
-
OriGene qPCR primer pairs for AOPEP
-
OriGene qPCR primer pairs and template standards for AOPEP
No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AOPEP Gene
Orthologs for AOPEP Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | C9H9orf3 29 |
|
||
| C9orf3 30 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | C8H9orf3 29 |
|
||
| C9orf3 30 |
|
OneToOne | |||
| Dog (Canis familiaris) |
Mammalia | C1H9orf3 29 |
|
||
| C9orf3 30 |
|
OneToOne | |||
| Mouse (Mus musculus) |
Mammalia | 2010111I01Rik 29 30 |
|
OneToOne | |
| Aopep 16 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | Npepo 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | C9orf3 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | CZH9ORF3 29 |
|
||
| C9orf3 30 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | C9orf3 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | c9orf3 29 |
|
||
| Str.19490 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68599 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | zgc:162939 29 |
|
||
| C8H9orf3 30 |
|
OneToOne | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LAP2 30 |
|
OneToMany |
- Species where no ortholog for AOPEP 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)
- 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)
- Fruit Fly (Drosophila melanogaster)
- 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 Squirt (Ciona savignyi)
- 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)
- Worm (Caenorhabditis elegans)
Evolution for AOPEP Gene
- ENSEMBL:
- Gene Tree for AOPEP (if available)
- TreeFam:
- Gene Tree for AOPEP (if available)
- Alliance of Genome Resources:
- Additional Orthologs for AOPEP
Paralogs for AOPEP Gene
Variants for AOPEP Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AOPEP Gene
| SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1000689 | Uncertain Significance: Fanconi anemia | 95,114,647(+) |
A/G NM_000136.3(FANCC):c.1136T>C (p.Val379Ala) |
MISSENSE | |
| 1009908 | Uncertain Significance: Fanconi anemia | 95,135,341(+) |
C/A NM_000136.3(FANCC):c.843+5G>T |
INTRON | |
| 1010244 | Uncertain Significance: Fanconi anemia | 95,114,671(+) |
A/G NM_000136.3(FANCC):c.1112T>C (p.Ile371Thr) |
MISSENSE | |
| 1010293 | Uncertain Significance: Fanconi anemia | 95,135,440(+) |
A/G NM_000136.3(FANCC):c.749T>C (p.Leu250Pro) |
MISSENSE | |
| 1014522 | Uncertain Significance: Fanconi anemia | 95,114,695(+) |
T/C NM_000136.3(FANCC):c.1088A>G (p.His363Arg) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2168e212 | CNV | loss | 25503493 |
| esv2764145 | CNV | loss | 21179565 |
| esv3307403 | CNV | mobile element insertion | 20981092 |
| esv3310318 | CNV | mobile element insertion | 20981092 |
| esv3328162 | CNV | insertion | 20981092 |
| esv3358674 | CNV | insertion | 20981092 |
| esv3368410 | CNV | insertion | 20981092 |
| esv3621113 | CNV | gain | 21293372 |
| esv3621137 | CNV | loss | 21293372 |
| esv3621138 | CNV | loss | 21293372 |
| esv3621139 | CNV | gain | 21293372 |
| esv3621140 | CNV | loss | 21293372 |
| esv3621141 | CNV | loss | 21293372 |
| esv3621144 | CNV | loss | 21293372 |
| esv8177 | CNV | gain | 19470904 |
| esv8735 | CNV | gain | 19470904 |
| nsv1038106 | CNV | gain | 25217958 |
| nsv1041922 | CNV | gain | 25217958 |
| nsv1045849 | CNV | loss | 25217958 |
| nsv1075255 | CNV | deletion | 25765185 |
| nsv1144283 | CNV | deletion | 24896259 |
| nsv1147999 | OTHER | inversion | 26484159 |
| nsv473369 | CNV | novel sequence insertion | 20440878 |
| nsv479050 | CNV | novel sequence insertion | 20440878 |
| nsv831656 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
22.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.41;
71.20% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AOPEP Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AOPEP Gene
Disorders for AOPEP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| tracheoesophageal fistula with or without esophageal atresia |
|
|
| fanconi anemia, complementation group c |
|
|
| inherited cancer-predisposing syndrome |
|
|
| cutaneous telangiectasia and cancer syndrome, familial |
|
|
| tumor predisposition syndrome |
|
Search AOPEP in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AOPEP
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for AOPEP Gene
Publications for AOPEP Gene
- Identification of human aminopeptidase O, a novel metalloprotease with structural similarity to aminopeptidase B and leukotriene A4 hydrolase. (PMID: 15687497) Díaz-Perales A … López-Otín C (The Journal of biological chemistry 2005) 2 4 22
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- An association study of C9orf3, a novel component of the renin-angiotensin system, and hypertension in diabetes. (PMID: 32999396) Ichikawa M … Nakamura H (Scientific reports 2020) 3
ExternalLinks
Products for AOPEP Gene
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- Boster Bio Antibodies for AOPEP
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Sources for AOPEP Gene
- (1) GeneCards
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- (4) UniProtKB/Swiss-Prot
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