1. Gene
  2. CST9 - cystatin 9 Gene

CST9 - cystatin 9 Gene

中文名称:胱抑素 9

种属: Homo sapiens

同用名: CLM; CTES7A

基因 ID: 128822 | 基因类型: protein coding

关于 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.

功能概要

胱抑素超家族包括含有多个胱抑素样序列的蛋白质。一些成员是活性半胱氨酸蛋白酶抑制剂,而其他成员则失去或可能从未获得这种抑制活性。超家族中有三个抑制家族,包括 1 型胱抑素 (stefins) 、2 型胱抑素和激肽原。 2 型胱抑素蛋白是一类半胱氨酸蛋白酶抑制剂,存在于多种人体体液和分泌物中,它们似乎在其中提供保护功能。 20 号染色体上的胱抑素基因座包含大多数 2 型胱抑素基因和假基因。该基因位于胱抑素位点,编码一种可能在造血分化或炎症中发挥作用的分泌蛋白。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

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

CST9 蛋白结构

Cystatin

Cystatin: Cystatin domain (43 - 117)

  • 0
  • 100
  • 159 a.a.
蛋白主名 其他名称

cystatin-9

cystatin-like molecule

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus CST9 MGD MGI:1340053
Others CST9 NCBI