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CST9 cystatin 9 [ Homo sapiens (human) ]

Gene ID: 128822, updated on 2-Oct-2018

Summary

Official Symbol
CST9provided by HGNC
Official Full Name
cystatin 9provided by HGNC
Primary source
HGNC:HGNC:13261
See related
Ensembl:ENSG00000173335 MIM:616543; Vega:OTTHUMG00000032076
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CLM; CTES7A
Summary
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, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted protein that may play a role in hematopoietic differentiation or inflammation. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See CST9 in Genome Data Viewer
Location:
20p11.21
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (23602410..23605973, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23583047..23586610, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cystatin 9 like Neighboring gene cystatin 9-like pseudogene 2 Neighboring gene cystatin C Neighboring gene uncharacterized LOC107985383

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
antimicrobial humoral response IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cystatin-9
Names
cystatin-like molecule
testatin

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001008693.2NP_001008693.2  cystatin-9 precursor

    See identical proteins and their annotated locations for NP_001008693.2

    Status: REVIEWED

    Source sequence(s)
    AL121894
    Consensus CDS
    CCDS33450.1
    UniProtKB/Swiss-Prot
    Q5W186
    Related
    ENSP00000366170.3, OTTHUMP00000030437, ENST00000376971.3, OTTHUMT00000078341
    Conserved Domains (1) summary
    cl09238
    Location:44122
    CY; Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    23602410..23605973 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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