CHIA (chitinase acidic)

Gene

• Entrez ID: 27159
• Gene name: Chitinase acidic
• Gene symbol: CHIA
• Synonyms (NCBI Gene): AMCASE, CHIT2, TSA1902
• Chromosome: 1
• Chromosome location: 1p13.2
• Summary: The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma s

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000272	Process	Polysaccharide catabolic process	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002532	Process	Production of molecular mediator involved in inflammatory response	IDA	18824549
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004568	Function	Chitinase activity	IBA
GO:0004568	Function	Chitinase activity	IDA	19435888
GO:0004568	Function	Chitinase activity	IEA
GO:0004568	Function	Chitinase activity	NAS	10548734
GO:0004568	Function	Chitinase activity	TAS
GO:0005515	Function	Protein binding	IPI	18824549, 32296183
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	18824549
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005737	Component	Cytoplasm	NAS	10548734
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006030	Process	Chitin metabolic process	NAS	10548734
GO:0006032	Process	Chitin catabolic process	IBA
GO:0006032	Process	Chitin catabolic process	IDA	19435888
GO:0006032	Process	Chitin catabolic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0008061	Function	Chitin binding	IEA
GO:0008843	Function	Endochitinase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019900	Function	Kinase binding	IPI	18824549
GO:0032722	Process	Positive regulation of chemokine production	IDA	18824549
GO:0044245	Process	Polysaccharide digestion	IEA
GO:0044245	Process	Polysaccharide digestion	TAS

Other IDs

• MIM: 606080
• HGNC: 17432
• e!Ensembl: ENSG00000134216

Protein

• UniProt ID: Q9BZP6
• Protein name: Acidic mammalian chitinase (AMCase) (EC 3.2.1.14) (Lung-specific protein TSA1902)
• Protein function: Degrades chitin and chitotriose. May participate in the defense against nematodes, fungi and other pathogens. Plays a role in T-helper cell type 2 (Th2) immune response. Contributes to the response to IL-13 and inflammation in response to IL-13.
• PDB: 2YBT, 2YBU, 3FXY, 3FY1, 3RM4, 3RM8, 3RM9, 3RME
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00704	Glyco_hydro_18	23 → 365	Glycosyl hydrolases family 18	Domain
  PF01607	CBM_14	430 → 476	Chitin binding Peritrophin-A domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in lung epithelial cells from asthma patients (at protein level). Highly expressed in stomach. Detected at lower levels in lung. {ECO:0000269|PubMed:11085997, ECO:0000269|PubMed:15192232}.
• Sequence:

  MTKLILLTGLVLILNLQLGSAYQLTCYFTNWAQYRPGLGRFMPDNIDPCLCTHLIYAFAG
  RQNNEITTIEWNDVTLYQAFNGLKNKNSQLKTLLAIGGWNFGTAPFTAMVSTPENRQTFI
  TSVIKFLRQYEFDGLDFDWEYPGSRGSPPQDKHLFTVLVQEMREAFEQEAKQINKPRLMV
  TAAVAAGISNIQSGYEIPQLSQYLDYIHVMTYDLHGSWEGYTGENSPLYKYPTDTGSNAY
  LNVDYVMNYWKDNGAPAEKLIVGFPTYGHNFILSNPSNTGIGAPTSGAGPAGPYAKESGI
  WAYYEICTFLKNGATQGWDAPQEVPYAYQGNVWVGYDNIKSFDIKAQWLKHNKFGGAMVW
  AIDLDDFTGTFCNQGKFPLISTLKKALGLQSASCTAPAQPIEPITAAPSGSGNGSGSSSS
  GGSSGGSGFCAVRANGLYPVANNRNAFWHCVNGVTYQQNCQAGLVFDTSCDCCNWA

• Sequence length: 476

Pathways

KEGG:

Amino sugar and nucleotide sugar metabolism
Metabolic pathways

Reactome:

Digestion of dietary carbohydrate

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	20422678		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15192232, 18602573, 18845328, 19241384, 19295241, 19435888, 19548841, 19644363, 20444155, 20538957, 21511453, 29233108, 29283260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	15192232, 18602573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	16179638, 21511453, 40198658	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchial Hyperreactivity	Bronchial hyperreactivity	Pubtator	16179638	Inhibit	★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	20538957, 29233108		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	19379605, 21493274		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	18216571		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	19512904		★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	24239745		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	19242357		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28294699		★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	BEFREE	29084744		★☆☆☆☆ Found in Text Mining only
Meibomian gland dysfunction	Meibomian Gland Dysfunction	BEFREE	19512904		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	19786213		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35409795	Associate	★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	30117166		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	30117166		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	40198658	Inhibit	★☆☆☆☆ Found in Text Mining only