Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
840
Gene name Gene Name - the full gene name approved by the HGNC.
Caspase 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CASP7
Synonyms (NCBI Gene) Gene synonyms aliases
CASP-7, CMH-1, ICE-LAP3, LICE2, MCH3
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020444 hsa-miR-106b-5p Microarray 17242205
MIRT021838 hsa-miR-132-3p Microarray 17612493
MIRT023343 hsa-miR-122-5p Microarray 17612493
MIRT024257 hsa-miR-215-5p Microarray 19074876
MIRT024257 hsa-miR-215-5p Microarray 19074876
Transcription factors
Transcription factor Regulation Reference
E2F1 Activation 12766778
IRF1 Activation 10918594
RUNX3 Activation 15930301
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 22464733
GO:0001650 Component Fibrillar center IDA
GO:0001778 Process Plasma membrane repair IDA 20530211
GO:0003723 Function RNA binding IDA 31586028
GO:0003723 Function RNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601761 1508 ENSG00000165806
Protein
UniProt ID P55210
Protein name Caspase-7 (CASP-7) (EC 3.4.22.60) (Apoptotic protease Mch-3) (CMH-1) (ICE-like apoptotic protease 3) (ICE-LAP3) [Cleaved into: Caspase-7 subunit p20; Caspase-7 subunit p11]
Protein function Thiol protease involved in different programmed cell death processes, such as apoptosis, pyroptosis or granzyme-mediated programmed cell death, by proteolytically cleaving target proteins (PubMed:11257230, PubMed:11257231, PubMed:11701129, PubMe
PDB 1F1J , 1GQF , 1I4O , 1I51 , 1K86 , 1K88 , 1KMC , 1SHJ , 1SHL , 2QL5 , 2QL7 , 2QL9 , 2QLB , 2QLF , 2QLJ , 3EDR , 3H1P , 3IBC , 3IBF , 3R5K , 4FDL , 4FEA , 4HQ0 , 4HQR , 4JB8 , 4JJ8 , 4JR1 , 4JR2 , 4LSZ , 4ZVO , 4ZVP , 4ZVQ , 4ZVR , 4ZVS , 4ZVT , 4ZVU , 5IC6 , 5K20 , 5V6U , 5V6Z , 7WZS , 8DGZ , 8DJ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00656 Peptidase_C14 68 301 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in lung, skeletal muscle, liver, kidney, spleen and heart, and moderately in testis. No expression in the brain. {ECO:0000269|PubMed:8576161}.
Sequence
Sequence length 303
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Efferocytosis
Apoptosis
Apoptosis - multiple species
Cytosolic DNA-sensing pathway
TNF signaling pathway
Non-alcoholic fatty liver disease
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Salmonella infection
Pertussis
Legionellosis
Pathways in cancer
Lipid and atherosclerosis
  Activation of caspases through apoptosome-mediated cleavage
SMAC (DIABLO) binds to IAPs
SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
Apoptotic cleavage of cellular proteins
SMAC, XIAP-regulated apoptotic response
Caspase-mediated cleavage of cytoskeletal proteins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Vitiligo Vitiligo N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 21212151
Adenocarcinoma of Lung Associate 20885442, 24972691
Alzheimer Disease Associate 26621834, 27358062, 30503768
Amyotrophic Lateral Sclerosis Stimulate 26159164
Autistic Disorder Stimulate 23231720
Bloom Syndrome Associate 32073752
Breast Neoplasms Associate 19674193, 19724676, 21429729, 25220225, 26011589, 30259091, 30290054, 30602686, 34452574, 36615253, 37537243
Burkitt Lymphoma Associate 22241218, 37569852
Calcinosis Cutis Inhibit 22986525
Carcinoma Ductal Breast Associate 21555521