CST9 - cystatin 9 Gene

Also Known as CLM; CTES7A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 128822

About CST9

Cytogenetic location: 20p11.21 Genomic coordinates (GRCh38): 20:23,602,410-23,605,917 (from NCBI)

This gene has 1 transcript (splice variant), 130 orthologues and 11 paralogues. Low expression observed in reference dataset.

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]

CST9 Products (1)

mRNA Protein Name
NM_001008693.3 NP_001008693.2 cystatin-9 precursor

Gene Ontology

  • Biological Process
Biological Process GO Annotation Evidence References Source
involved in antimicrobial humoral response IDA
IDA: Inferred from direct assay
23922243 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CST9 Protein Structure

Cystatin

Cystatin: Cystatin domain (43 - 117)

  • 0
  • 100
  • 159 a.a.
Protein Preferred Names Protein Names

cystatin-9

  • cystatin-like molecule

Related Diseases

Diseases Alias
Pneumonic Tularemia

  • Pulmonary Tularemia

  • Bronchopneumonic Tularemia

  • Pneumonic Tularaemia
Acute Contagious Conjunctivitis

  • Pink Eye

  • Contagious Opthalmia

  • Pinkeye

  • Conjunctivitis

  • Keratoconjunctivitis Due To Mycoplasma Conjunctivae
Acute Conjunctivitis
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

  • Familial Juvenile Hyperuricemic Nephropathy

  • Mckd2

  • Familial Juvenile Hyperuricemic Nephropathy Type 1

  • Fjhn

  • Medullary Cystic Kidney Disease 2

  • Uromodulin-Associated Kidney Disease

  • Medullary Cystic Kidney Disease Type 2

  • ADTKD1

  • Hnfj1

  • Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria

  • Adtkd-Umod

  • Familial Juvenile Hyperuricemic Nephropathy 1

  • Umod-Related Adtkd

  • Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease

  • Hyperuricemic Nephropathy, Familial Juvenile, 1

  • Gouty Nephropathy, Familial Juvenile

  • Medullary Cystic Kidney Disease 2, Autosomal Dominant

  • Admckd2

  • Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations

  • Adtkd Due To Umod Mutations

  • Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

  • Autosomal Dominant Medullary Cystic Kidney Disease Type 2

  • Umod-Associated Kidney Disease

  • Uromodulin Kidney Disease

  • Familial Gout-Kidney Disease

  • Familial Gouty Nephropathy

  • Umak

  • Umod-Related Kidney Disease

  • Uromodulin Storage Disease

  • Fjhn1

  • Gouty Nephropathy Familial Juvenile

  • Nephropathy Familial With Gout

  • Hyperuricemic Nephropathy, Familial Juvenile 1

  • Hyperuricemic Nephropathy, Familial Juvenile

  • Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria

  • Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1

  • Kidney Disease, Cystic, Medullary, Type 2

  • Medullary Cystic Kidney Disease Type Ii

  • Familial Juvenile Gout
46,Xy Sex Reversal

  • Swyer Syndrome

  • Pure Gonadal Dysgenesis 46,Xy

  • Gonadal Dysgenesis, Xy Female Type

  • Gonadal Dysgenesis, 46,Xy

  • 46,Xy Cgd

  • 46,Xy Complete Gonadal Dysgenesis

  • 46,Xy Pure Gonadal Dysgenesis

  • 46 Xy Gonadal Dysgenesis

  • 46, Xy Cgd

  • 46, Xy Complete Gonadal Dysgenesis

  • 46, Xy Pure Gonadal Dysgenesis

  • Xy Pure Gonadal Dysgenesis

  • Female With 46,Xy Karyotype

  • Xy Females
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CST9 MGD MGI:1340053
Others CST9 NCBI