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Aliases for CST7 Gene

Aliases for CST7 Gene

  • Cystatin F 2 3 5
  • Leukocystatin 2 3 4
  • Cystatin-Like Metastasis-Associated Protein 3 4
  • Cystatin-7 3 4
  • CMAP 3 4
  • Cystatin F (Leukocystatin) 2
  • Cystatin-F 3

External Ids for CST7 Gene

Previous GeneCards Identifiers for CST7 Gene

  • GC20P024917
  • GC20P024877
  • GC20P024924

Summaries for CST7 Gene

Entrez Gene Summary for CST7 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 families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq, Jul 2008]

GeneCards Summary for CST7 Gene

CST7 (Cystatin F) is a Protein Coding gene. Diseases associated with CST7 include Aicardi-Goutieres Syndrome. Gene Ontology (GO) annotations related to this gene include endopeptidase inhibitor activity and cysteine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot for CST7 Gene

  • Inhibits papain and cathepsin L but with affinities lower than other cystatins. May play a role in immune regulation through inhibition of a unique target in the hematopoietic system.

Gene Wiki entry for CST7 Gene

Additional gene information for CST7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CST7 Gene

Genomics for CST7 Gene

GeneHancer (GH) Regulatory Elements for CST7 Gene

Promoters and enhancers for CST7 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
GH20I024948 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 573.1 +3.5 3549 8.4 MEIS2 PKNOX1 ZNF146 NFIB MAX EBF1 CEBPG ZIC2 RAD21 HIC1 CST7 APMAP ACSS1 VN1R108P PYGB PIR45392
GH20I024989 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.9 +42.4 42419 5.2 PKNOX1 FOXA2 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 APMAP CST7 ACSS1 VN1R108P PYGB RNU6-1257P
GH20I024994 Enhancer 1.3 Ensembl ENCODE dbSUPER 19 +45.8 45760 1 PKNOX1 RB1 NFIB ARID4B KLF17 SIN3A ZNF48 RAD21 NCOA2 ZNF143 CST7 ZNF337 NINL APMAP PIR53263
GH20I024957 Enhancer 1 FANTOM5 ENCODE dbSUPER 21.9 +12.6 12618 9.2 ZFHX2 POLR2A GLIS1 MNT FOS FOXA1 EGR2 PIR45392 CST7 APMAP ACSS1 VN1R108P
GH20I025029 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 12.3 +83.1 83076 4.7 ELF3 FOXA2 MLX NFIB ARID4B DMAP1 RAD21 ZNF48 ZSCAN9 RARA ACSS1 CST7 APMAP FAM182B PIR53263
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CST7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CST7 gene promoter:

Genomic Locations for CST7 Gene

Genomic Locations for CST7 Gene
chr20:24,949,230-24,959,928
(GRCh38/hg38)
Size:
10,699 bases
Orientation:
Plus strand
chr20:24,929,866-24,940,564
(GRCh37/hg19)

Genomic View for CST7 Gene

Genes around CST7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CST7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CST7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CST7 Gene

Proteins for CST7 Gene

  • Protein details for CST7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76096-CYTF_HUMAN
    Recommended name:
    Cystatin-F
    Protein Accession:
    O76096
    Secondary Accessions:
    • Q6FH95
    • Q7Z4J8
    • Q9UED4

    Protein attributes for CST7 Gene

    Size:
    145 amino acids
    Molecular mass:
    16454 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.
    SequenceCaution:
    • Sequence=AAH15507.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAP88827.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA34941.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB11886.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB75498.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CST7 Gene

neXtProt entry for CST7 Gene

Post-translational modifications for CST7 Gene

  • Glycosylation at Asn62 and posLast=115115
  • Modification sites at PhosphoSitePlus

Other Protein References for CST7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CST7 Gene

Domains & Families for CST7 Gene

Gene Families for CST7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CST7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O76096

UniProtKB/Swiss-Prot:

CYTF_HUMAN :
  • Belongs to the cystatin family.
Family:
  • Belongs to the cystatin family.
genes like me logo Genes that share domains with CST7: view

Function for CST7 Gene

Molecular function for CST7 Gene

UniProtKB/Swiss-Prot Function:
Inhibits papain and cathepsin L but with affinities lower than other cystatins. May play a role in immune regulation through inhibition of a unique target in the hematopoietic system.

Phenotypes From GWAS Catalog for CST7 Gene

Gene Ontology (GO) - Molecular Function for CST7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IBA --
GO:0004866 endopeptidase inhibitor activity TAS 9632704
GO:0004869 cysteine-type endopeptidase inhibitor activity TAS,IBA --
GO:0005515 protein binding IPI 18256700
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with CST7: view

Phenotypes for CST7 Gene

MGI mutant phenotypes for CST7:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with CST7: view

Animal Models for CST7 Gene

MGI Knock Outs for CST7:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CST7 Gene

Localization for CST7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CST7 Gene

Secreted. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CST7 gene
Compartment Confidence
extracellular 4
lysosome 2
endosome 2
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CST7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CST7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CST7 Gene

Pathways & Interactions for CST7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CST7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response TAS 9632704
GO:0010466 negative regulation of peptidase activity IEA --
GO:2000117 negative regulation of cysteine-type endopeptidase activity IBA --
genes like me logo Genes that share ontologies with CST7: view

No data available for Pathways by source and SIGNOR curated interactions for CST7 Gene

Drugs & Compounds for CST7 Gene

(2) Drugs for CST7 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CST7: view

Transcripts for CST7 Gene

mRNA/cDNA for CST7 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(60) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CST7 Gene

Cystatin F (leukocystatin):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CST7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4
SP1: -
SP2:
SP3:

Relevant External Links for CST7 Gene

GeneLoc Exon Structure for
CST7
ECgene alternative splicing isoforms for
CST7

Expression for CST7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CST7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CST7 Gene

This gene is overexpressed in Whole Blood (x48.3).

Protein differential expression in normal tissues from HIPED for CST7 Gene

This gene is overexpressed in NK cells (27.7), Peripheral blood mononuclear cells (20.8), and CD8 Tcells (17.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CST7 Gene



Protein tissue co-expression partners for CST7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CST7 Gene:

CST7

SOURCE GeneReport for Unigene cluster for CST7 Gene:

Hs.143212

mRNA Expression by UniProt/SwissProt for CST7 Gene:

O76096-CYTF_HUMAN
Tissue specificity: Primarily expressed in peripheral blood cells and spleen.

Evidence on tissue expression from TISSUES for CST7 Gene

  • Blood(4.5)
  • Lung(4.2)
  • Bone marrow(2.5)
  • Lymph node(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with CST7: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CST7 Gene

Orthologs for CST7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CST7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CST7 33 34
  • 97.47 (n)
dog
(Canis familiaris)
Mammalia CST7 33 34
  • 81.59 (n)
mouse
(Mus musculus)
Mammalia Cst7 33 16 34
  • 78.33 (n)
rat
(Rattus norvegicus)
Mammalia Cst7 33
  • 77.07 (n)
cow
(Bos Taurus)
Mammalia CST7 33 34
  • 74.48 (n)
oppossum
(Monodelphis domestica)
Mammalia CST7 34
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 24 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CST7 33 34
  • 57.38 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cst7 33
  • 56.11 (n)
zebrafish
(Danio rerio)
Actinopterygii CST7 34
  • 32 (a)
OneToOne
Species where no ortholog for CST7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 squirt (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 CST7 Gene

ENSEMBL:
Gene Tree for CST7 (if available)
TreeFam:
Gene Tree for CST7 (if available)

Paralogs for CST7 Gene

(7) SIMAP similar genes for CST7 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CST7: view

No data available for Paralogs for CST7 Gene

Variants for CST7 Gene

Sequence variations from dbSNP and Humsavar for CST7 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000079209 -- 24,947,625(+) A/T upstream_transcript_variant
rs1000094451 -- 24,954,621(+) A/G intron_variant
rs1000425101 -- 24,952,156(+) T/C intron_variant
rs1000695595 -- 24,955,941(+) G/T intron_variant
rs1000799465 -- 24,957,704(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CST7 Gene

Variant ID Type Subtype PubMed ID
dgv4288n100 CNV gain 25217958
esv1703823 CNV insertion 17803354
esv2762068 CNV loss 21179565
esv3645552 CNV gain 21293372
esv3645567 CNV gain 21293372
esv3645573 CNV gain 21293372
nsv1056345 CNV gain 25217958
nsv510783 CNV deletion 20534489
nsv522873 CNV gain 19592680
nsv524921 CNV gain 19592680
nsv585745 CNV loss 21841781
nsv953007 CNV deletion 24416366

Variation tolerance for CST7 Gene

Residual Variation Intolerance Score: 69.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.79; 47.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CST7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CST7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CST7 Gene

Disorders for CST7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CST7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
aicardi-goutieres syndrome
  • cree encephalitis
- elite association - COSMIC cancer census association via MalaCards
Search CST7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CST7

genes like me logo Genes that share disorders with CST7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CST7 Gene

Publications for CST7 Gene

  1. Leukocystatin, a new Class II cystatin expressed selectively by hematopoietic cells. (PMID: 9632704) Halfon S … Zurawski G (The Journal of biological chemistry 1998) 2 3 4 22 58
  2. Cystatin F is a glycosylated human low molecular weight cysteine proteinase inhibitor. (PMID: 9733783) Ni J … Abrahamson M (The Journal of biological chemistry 1998) 2 3 4 22 58
  3. Structural basis of reduction-dependent activation of human cystatin F. (PMID: 16601115) Schüttelkopf AW … van Aalten DM (The Journal of biological chemistry 2006) 3 4 22 58
  4. Regulated expression and intracellular localization of cystatin F in human U937 cells. (PMID: 12423348) Nathanson CM … Abrahamson M (European journal of biochemistry 2002) 3 4 22 58
  5. Genomic construct and mapping of the gene for CMAP (leukocystatin/cystatin F, CST7) and identification of a proximal novel gene, BSCv (C20orf3). (PMID: 10945474) Morita M … Nishimura S (Genomics 2000) 3 4 22 58

Products for CST7 Gene

Sources for CST7 Gene

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