CSTA (cystatin A)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1475
Gene name Gene Name - the full gene name approved by the HGNC.
Cystatin A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CSTA
Synonyms (NCBI Gene) Gene synonyms aliases
AREI, PSS4, STF1, STFA
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs149474339 C>T Pathogenic Stop gained, coding sequence variant
rs387906689 C>T Pathogenic Coding sequence variant, stop gained
rs398122804 A>T Pathogenic Splice acceptor variant
rs747711488 A>T Pathogenic Stop gained, coding sequence variant
rs1321015847 TT>- Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
miRTarBase ID miRNA Experiments Reference
MIRT913375 hsa-miR-1225-5p CLIP-seq
MIRT913376 hsa-miR-1293 CLIP-seq
MIRT913377 hsa-miR-141 CLIP-seq
MIRT913378 hsa-miR-199a-3p CLIP-seq
MIRT913379 hsa-miR-199b-3p CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
FOS Unknown 9651321
JUN Unknown 9651321
JUND Unknown 9651321
TFAP2C Unknown 11095974
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IDA 10908733
GO:0001533 Component Cornified envelope TAS
GO:0002020 Function Protease binding IEA
GO:0002020 Function Protease binding IPI 6203523
GO:0004866 Function Endopeptidase inhibitor activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
184600 2481 ENSG00000121552
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P01040
Protein name Cystatin-A (Cystatin-AS) (Stefin-A) [Cleaved into: Cystatin-A, N-terminally processed]
Protein function This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis.
PDB 1CYU , 1CYV , 1DVC , 1DVD , 1GD3 , 1GD4 , 1N9J , 1NB3 , 1NB5 , 3K9M , 3KFQ , 3KSE , 8GT0 , 8GT7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00031 Cystatin 4 → 92 Cystatin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the skin throughout the epidermis. {ECO:0000269|PubMed:21944047}.
Sequence
Sequence length 98
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Formation of the cornified envelope
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Peeling Skin Syndrome peeling skin syndrome 4 rs398122804, rs387906689, rs747711488, rs149474339 N/A
Show/Hide Unknown Diseases (3)
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
Acne acne vulgaris N/A N/A GWAS
Acral Peeling Skin Syndrome acral peeling skin syndrome N/A N/A GenCC
Exfoliative Ichthyosis exfoliative ichthyosis N/A N/A GenCC
Show/Hide Text Mining Associations (35)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Inhibit 21325429
Adenocarcinoma of Lung Associate 32360590
Arthritis Rheumatoid Associate 35844557
Brain Neoplasms Associate 30854931
Bronchopulmonary Dysplasia Associate 37839510
Carcinoma Hepatocellular Associate 31115549, 37006285
Carcinoma Non Small Cell Lung Associate 21325429
Carcinoma Pancreatic Ductal Associate 28898495
Carcinoma Renal Cell Associate 35563761
Carcinoma Squamous Cell Stimulate 21325429