Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
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

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	15752368, 22365146
GO:0002577	Process	Regulation of antigen processing and presentation	IDA	22365146
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	9632704
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IBA
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IDA	15752368
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IEA
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	TAS	9733783
GO:0005515	Function	Protein binding	IPI	18256700
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	12423348, 15212960
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	15752368, 18256700, 22365146
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IDA	15752368
GO:0005770	Component	Late endosome	IBA
GO:0005770	Component	Late endosome	IEA
GO:0005771	Component	Multivesicular body	IDA	22365146
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	15212960, 18256700
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	18256700, 22365146
GO:0005794	Component	Golgi apparatus	IEA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	TAS	9632704, 18256700
GO:0030414	Function	Peptidase inhibitor activity	IDA	18256700, 22365146
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	12423348, 15212960
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031643	Process	Positive regulation of myelination	IBA
GO:0031643	Process	Positive regulation of myelination	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	15212960, 15752368, 18256700
GO:1903979	Process	Negative regulation of microglial cell activation	IBA
GO:1903979	Process	Negative regulation of microglial cell activation	IEA
GO:1905146	Process	Lysosomal protein catabolic process	IDA	15752368, 22365146

MIM	HGNC	e!Ensembl
603253	2479	ENSG00000077984

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	19016741	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	21524657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30283032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31056952, 31133773		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31059105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31115549, 34980144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31059105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	35833818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18575712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	24934367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	28251676, 30152001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23891256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	35626661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30638160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	17716379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31115549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28615526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30638160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21344476, 30152001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy, Spinal, Type II	Spinal Muscular Atrophy	BEFREE	22512990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18575712, 29180998, 29748898, 31115549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31059105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	30638160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	30638160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31485443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	32337286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36969161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CST7 (cystatin F)