CST7 (cystatin F)

Gene

• Entrez ID: 8530
• Gene name: Cystatin F
• Gene symbol: CST7
• Synonyms (NCBI Gene): CMAP
• Chromosome: 20
• Chromosome location: 20p11.21
• 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	9632704
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	18256700
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	12423348, 15212960
GO:0005764	Component	Lysosome	IBA	21873635
GO:0005764	Component	Lysosome	IDA	15752368, 18256700, 22365146
GO:0005768	Component	Endosome	IDA	15752368
GO:0005770	Component	Late endosome	IBA	21873635
GO:0005771	Component	Multivesicular body	IDA	22365146
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	15212960, 18256700
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	18256700, 22365146
GO:0006955	Process	Immune response	IEA
GO:0010466	Process	Negative regulation of peptidase activity	IDA	15752368, 18256700, 22365146
GO:0030414	Function	Peptidase inhibitor activity	IDA	15752368, 18256700, 22365146
GO:0031410	Component	Cytoplasmic vesicle	IDA	12423348, 15212960
GO:0031643	Process	Positive regulation of myelination	IBA	21873635
GO:0042803	Function	Protein homodimerization activity	IDA	15212960, 15752368, 18256700
GO:0097340	Process	Inhibition of cysteine-type endopeptidase activity	IBA	21873635
GO:1903979	Process	Negative regulation of microglial cell activation	IBA	21873635

Other IDs

• MIM: 603253
• HGNC: 2479
• e!Ensembl: ENSG00000077984

Protein

• UniProt ID: O76096
• Protein name: Cystatin-F (Cystatin-7) (Cystatin-like metastasis-associated protein) (CMAP) (Leukocystatin)
• Protein 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.
• PDB: 2CH9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00031	Cystatin	37 → 133	Cystatin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Primarily expressed in peripheral blood cells and spleen.
• Sequence:

  MRAAGTLLAFCCLVLSTTGGPSPDTCSQDLNSRVKPGFPKTIKTNDPGVLQAARYSVEKF
  NNCTNDMFLFKESRITRALVQIVKGLKYMLEVEIGRTTCKKNQHLRLDDCDFQTNHTLKQ
  TLSCYSEVWVVPWLQHFEVPVLRCH

• Sequence length: 145

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	16367923

Associations from Text Mining
Disease Name	Relationship Type	References
Aicardi Goutieres syndrome	Associate	19016741
Carcinoma Hepatocellular	Associate	31115549, 34980144
Carcinoma Pancreatic Ductal	Associate	31059105
Cerebral Hemorrhage	Associate	35833818
Craniopharyngioma	Associate	24934367
Diabetes Mellitus Type 1	Associate	35626661
Leiomyoma	Associate	17716379
Neoplasms	Associate	31115549
Squamous Cell Carcinoma of Head and Neck	Associate	31485443
Thyroid Neoplasms	Associate	32337286
Uterine Cervical Neoplasms	Associate	36969161
Vaginosis Bacterial	Associate	26081632