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CHIA Gene

protein-coding   GIFtS: 59
GCID: GC01P111833

Chitinase, Acidic

  See CHIA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chitinase, Acidic1 2     TSA19022 5
Lung-Specific Protein TSA19022 3     AMCASE2
EC 3.2.1.143 8     Acidic Mammalian Chitinase2
CHIT22 5     AMCase3

External Ids:    HGNC: 174321   Entrez Gene: 271592   Ensembl: ENSG000001342167   OMIM: 6060805   UniProtKB: Q9BZP63   

Export aliases for CHIA gene to outside databases

Previous GC identifers: GC01P112249 GC01P110695 GC01P110935 GC01P111132 GC01P111545 GC01P111636 GC01P109706


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CHIA Gene:
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 susceptibility. Several transcript variants encoding a few different isoforms
have been found for this gene. (provided by RefSeq, Apr 2012)

GeneCards Summary for CHIA Gene:
CHIA (chitinase, acidic) is a protein-coding gene. Diseases associated with CHIA include neuromyelitis optica, and asthma. GO annotations related to this gene include carbohydrate binding and lysozyme activity. An important paralog of this gene is CHI3L1.

UniProtKB/Swiss-Prot: CHIA_HUMAN, Q9BZP6
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. Stimulates chemokine production by pulmonary epithelial cells. Protects lung
epithelial cells against apoptosis and promotes phosphorylation of AKT1. Its function in the inflammatory
response and in protecting cells against apoptosis is inhibited by allosamidin, suggesting that the function of
this protein depends on carbohydrate binding




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHIA gene promoter:
         TBP   AML1a   TFIID   Pax-6   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHIA promoter sequence
   Search Chromatin IP Primers for CHIA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHIA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.2   Ensembl cytogenetic band:  1p13.2   HGNC cytogenetic band: 1p13.2

CHIA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHIA gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P111833:  view genomic region     (about GC identifiers)

Start:
111,833,484 bp from pter      End:
111,863,188 bp from pter
Size:
29,705 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CHIA_HUMAN, Q9BZP6 (See protein sequence)
Recommended Name: Acidic mammalian chitinase precursor  
Size: 476 amino acids; 52271 Da
Subunit: Interacts with EGFR
Selected PDB 3D structures from and Proteopedia for CHIA (see all 8):
2YBT (3D)        2YBU (3D)        3FXY (3D)        3FY1 (3D)        3RM4 (3D)        3RM8 (3D)    
Secondary accessions: Q32W79 Q32W80 Q3B866 Q5U5Z5 Q5VUV4 Q86UD8 Q9ULY3 Q9ULY4
Alternative splicing: 3 isoforms:  Q9BZP6-1   Q9BZP6-2   Q9BZP6-3   

Explore the universe of human proteins at neXtProt for CHIA: NX_Q9BZP6

Explore proteomics data for CHIA at MOPED

Selected DME Specific Peptides for CHIA (Q9BZP6) (see all 5)
 CYFTNWA  LCTHLIY  LAIGGWN  NGAPAEKLI 


See CHIA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (8 alternative transcripts): 
NP_001035713.1  NP_001244930.1  NP_001244931.1  NP_001244932.1  NP_001244933.1  NP_001244934.1  NP_068569.2  NP_970615.2  

ENSEMBL proteins: 
 ENSP00000387671   ENSP00000436946   ENSP00000358755   ENSP00000271312   ENSP00000338970  
 ENSP00000433309   ENSP00000391132   ENSP00000341828   ENSP00000390476  

CHIA Human Recombinant Protein Products:

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Novus Biologicals CHIA Lysates
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Cloud-Clone Corp. Proteins for CHIA

 
Search eBioscience for Proteins for CHIA 

CHIA Antibody Products:

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LSBio Antibodies in human, mouse, rat for CHIA

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Cloud-Clone Corp. ELISAs for CHIA
Cloud-Clone Corp. CLIAs for CHIA
Search eBioscience for ELISAs for CHIA 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 6):
 IPR011583 Chitinase_II
 IPR017853 Glycoside_hydrolase_SF
 IPR001223 Glyco_hydro18cat
 IPR013781 Glyco_hydro_catalytic_dom
 IPR001579 Glyco_hydro_18_chit_AS

Graphical View of Domain Structure for InterPro Entry Q9BZP6

ProtoNet protein and cluster: Q9BZP6

4 Blocks protein domains:
IPB001223 Glycoside hydrolase
IPB001579 Glycoside hydrolase
IPB002557 Chitin binding Peritrophin-A
IPB011583 Chitinase II


UniProtKB/Swiss-Prot: CHIA_HUMAN, Q9BZP6
Similarity: Belongs to the glycosyl hydrolase 18 family. Chitinase class II subfamily
Similarity: Contains 1 chitin-binding type-2 domain


Find genes that share domains with CHIA           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CHIA_HUMAN, Q9BZP6
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. Stimulates chemokine production by pulmonary epithelial cells. Protects lung
epithelial cells against apoptosis and promotes phosphorylation of AKT1. Its function in the inflammatory
response and in protecting cells against apoptosis is inhibited by allosamidin, suggesting that the function of
this protein depends on carbohydrate binding
Catalytic activity: Random hydrolysis of N-acetyl-beta-D-glucosaminide (1->4)-beta-linkages in chitin and
chitodextrins
Induction: Up-regulated in lung epithelial cells from asthma patients

     Enzyme Number (IUBMB): EC 3.2.1.141 2

     Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003796lysozyme activity NAS11085997
GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
GO:0004568chitinase activity NAS10548734
GO:0008061chitin binding TAS11085997
GO:0019900kinase binding IPI18824549
     
Find genes that share ontologies with CHIA           About GenesLikeMe


Phenotypes:
     2 GenomeRNAi human phenotypes for CHIA:
 Decreased DCP1a protein expres  Increased gamma-H2AX phosphory 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHIA
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   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHIA
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHIA

miRNA
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Predesigned siRNA for gene silencing in human, mouse, rat CHIA

Gene Editing
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OriGene ORF clones in mouse, rat for CHIA
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): CHIA (NM_021797)
Sino Biological Human cDNA Clone for CHIA
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHIA
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHIA

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHIA


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CHIA_HUMAN, Q9BZP6: Isoform 1: Secreted. Note=Secretion depends on EGFR activity
CHIA_HUMAN, Q9BZP6: Isoform 2: Cytoplasm
CHIA_HUMAN, Q9BZP6: Isoform 3: Cytoplasm
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
endoplasmic reticulum2
lysosome1
peroxisome1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region ----
GO:0005615extracellular space IDA18824549
GO:0005737cytoplasm NAS10548734

Find genes that share ontologies with CHIA           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for CHIA About    
See pathways by source

SuperPathContained pathways About
1Amino sugar and nucleotide sugar metabolism
Amino sugar and nucleotide sugar metabolism


Find genes that share SuperPaths with CHIA           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways




1 Kegg Pathway  (Kegg details for CHIA):
    Amino sugar and nucleotide sugar metabolism

    Pathway & Disease-focused RT2 Profiler PCR Arrays including CHIA: 
          Antifungal Response in human mouse rat
          Allergy & Asthma in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for CHIA

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

Selected Interacting proteins for CHIA (Q9BZP63 ENSP000003418284) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
InteractantInteraction Details
GeneCardExternal ID(s)
HECTD2Q5U5R93I2D: score=1 
PPP1CCP368733I2D: score=1 
PRPF4O431723I2D: score=1 
AMY1AENSP000003591004STRING: ENSP00000359100
NAGKENSP000002442044STRING: ENSP00000244204
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Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000272polysaccharide catabolic process IEA--
GO:0001101response to acid TAS11085997
GO:0002532production of molecular mediator involved in inflammatory response IDA18824549
GO:0005975carbohydrate metabolic process ----
GO:0006030chitin metabolic process NAS10548734

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CHIA

3 HMDB Compounds for CHIA    About this table
CompoundSynonyms CAS #PubMed Ids
ChitinPoly 2-Acetamido-2-deoxy-D-glucose (see all 8)1398-61-4--
N-Acetyl-D-glucosamine2-(acetylamino)-2-deoxyhexose (see all 9)7512-17-6--
WaterDihydrogen oxide (see all 2)7732-18-5--

3 Novoseek inferred chemical compound relationships for CHIA gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
chitin 84.3 16 19379605 (4), 11085997 (2), 19662198 (1), 18424542 (1) (see all 6)
rantes 29.5 1 8980953 (1)
lipid 0 1 15923370 (1)



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CHIA gene (8 alternative transcripts): 
NM_001040623.2  NM_001258001.1  NM_001258002.1  NM_001258003.1  NM_001258004.1  NM_001258005.1  NM_021797.3  NM_201653.3  

Unigene Cluster for CHIA:

Chitinase, acidic
Hs.128814  [show with all ESTs]
Unigene Representative Sequence: NM_201653
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000422815(uc001ear.3 uc009wgc.3) ENST00000483391(uc001eat.3)
ENST00000369740(uc001eas.3 uc001eaq.3) ENST00000352594 ENST00000477918
ENST00000353665 ENST00000489524 ENST00000430615 ENST00000343320(uc001eau.3)
ENST00000451398(uc001eav.3 uc009wgd.3)
miRNA
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Search for qRT-PCR Assays for microRNAs that regulate CHIA
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for CHIA
Predesigned siRNA for gene silencing in human, mouse, rat CHIA
Clone
Products:
     
OriGene clones in human, mouse for CHIA (see all 14)
OriGene ORF clones in mouse, rat for CHIA
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): CHIA (NM_021797)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHIA
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHIA
Primer
Products:
    
OriGene qPCR primer pairs and template standards for CHIA
OriGene qSTAR qPCR primer pairs in human, mouse for CHIA
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHIA
  QuantiTect SYBR Green Assays in human, mouse, rat CHIA
  QuantiFast Probe-based Assays in human, mouse, rat CHIA

Additional mRNA sequence: 

AB025008.1 AB025009.1 AF290004.1 AK290702.1 AY789444.1 AY789445.1 AY825504.1 AY911310.1 
AY911311.1 BC036339.1 BC047336.1 BC106910.1 BC139901.1 BC139920.1 

6 DOTS entries:

DT.40127562  DT.92418425  DT.97800384  DT.121458816  DT.121458817  DT.100018824 

18 AceView cDNA sequences:

NM_201653 BC036339 BP341149 BI761276 AK098814 BC047336 AF290004 BI760250 
NM_021797 AB025009 BP343129 BM923480 BF438434 AB025008 BI517797 AA976830 
BM924663 BI518221 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for CHIA    About this scheme

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1:                                                                  
SP2:        -                                                         
SP3:        -           -                                             
SP4:        -                                                         


ECgene alternative splicing isoforms for CHIA

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CHIA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTGCCCCTAC
CHIA Expression
About this image

CHIA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CHIA Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.128814

UniProtKB/Swiss-Prot: CHIA_HUMAN, Q9BZP6
Tissue specificity: Detected in lung epithelial cells from asthma patients (at protein level). Highly expressed in
stomach. Detected at lower levels in lung

    Pathway & Disease-focused RT2 Profiler PCR Arrays including CHIA: 
          Antifungal Response in human mouse rat
          Allergy & Asthma in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for CHIA
OriGene qSTAR qPCR primer pairs in human, mouse for CHIA
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHIA
QuantiTect SYBR Green Assays in human, mouse, rat CHIA
QuantiFast Probe-based Assays in human, mouse, rat CHIA
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHIA

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for CHIA gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Chia5
Chia11
chitinase, acidic5
chitinase, acidic 11
84.18(n)1
81.57(a)1
  3 (46.49 cM)5
816001  NM_023186.31  NP_075675.21 
 1061132295 
chicken
(Gallus gallus)
Aves CHIA1 chitinase, acidic 75.07(n)
74.16(a)
  395072  NM_204429.1  NP_989760.1 
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
81(a)
78(a)
1 ↔ many
1 ↔ many
4(119063597-119069421)
4(119034763-119045878)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.84802 Transcribed sequence with moderate similarity to protein more 76.95(n)    CF374280.1 
zebrafish
(Danio rerio)
Actinopterygii zgc:1739271 zgc:173927 60.38(n)
55.92(a)
  100003900  NM_001110041.2  NP_001103511.1 
fruit fly
(Drosophila melanogaster)
Insecta Cht76
Cht7
21(a)
1 → many
3L(3090985-3106958)
worm
(Caenorhabditis elegans)
Secernentea cht-16
Protein CHT-1 (cht-1) mRNA, complete cds
30(a)
1 → many
X(3397608-3400017) WBGene00000503
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CTS2(YDR371W)4 Putative chitinase, functionally complements A. gossypii more   --   4(1219413-1220948) 851977  NP_010659.1 


ENSEMBL Gene Tree for CHIA (if available)
TreeFam Gene Tree for CHIA (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CHIA gene
CHI3L12  CHIT12  CHI3L22  OVGP12  
5 SIMAP similar genes for CHIA using alignment to 5 protein entries:     CHIA_HUMAN (see all proteins):
FLJ00314    CHIT1    OVGP1    CHI3L1    CHI3L2

Find genes that share paralogs with CHIA           About GenesLikeMe


4 Pseudogenes.org Pseudogenes for CHIA
PGOHUM00000258073 PGOHUM00000258091 PGOHUM00000258093 PGOHUM00000258094


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CHIA (see all 940)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1143793271,2
C,F--111831482(+) GTTAAC/GAGACC 8 -- us2k11Minor allele frequency- G:0.07WA 118
rs121275931,2
C,F,H--111831494(+) GCAGGC/TGGCCT 8 -- us2k16Minor allele frequency- T:0.01NS EA NA 530
rs1136925491,2
C--111831657(+) GATTAT/CACCAG 8 -- us2k11Minor allele frequency- C:0.00CSA 1
rs1451743981,2
--111831661(+) ACACCA/CGAAGA 8 -- us2k10--------
rs1885493451,2
--111831813(+) ACATCC/GAAAGC 8 -- us2k10--------
rs1915049691,2
--111831858(+) TGTTAG/TATTGT 8 -- us2k10--------
rs75153611,2
C,F,A,H--111831915(+) GCCATC/TGCTTC 8 -- us2k127Minor allele frequency- T:0.42NS EA NA WA 2936
rs1839691831,2
--111831972(+) TGCATC/GCTGCT 8 -- us2k10--------
rs1891312751,2
--111832110(+) CCATCA/GCTTTC 8 -- us2k10--------
rs75155741,2
C,F,H--111832123(+) AGATTG/CGTATG 8 -- us2k116Minor allele frequency- C:0.02NS EA NA WA CSA 559

HapMap Linkage Disequilibrium report for CHIA (111833484 - 111863188 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for CHIA:    About this table    
Variant IDTypeSubtypePubMed ID
dgv41e201CNV Deletion23290073
esv2665968CNV Deletion23128226
esv2716163CNV Deletion23290073
esv2716185CNV Deletion23290073
esv1564747CNV Deletion17803354
nsv518232CNV Loss19592680
nsv463250CNV Loss19166990
nsv441709CNV CNV18776908
essv5780CNV CNV17122850
dgv87e1CNV Complex17122850

Human Gene Mutation Database (HGMD): CHIA
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CHIA
DNA2.0 Custom Variant and Variant Library Synthesis for CHIA

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 606080    OMIM disorders: --

2 diseases for CHIA:    
About MalaCards
neuromyelitis optica    asthma

1 disease from the University of Copenhagen DISEASES database for CHIA:
Asthma

Find genes that share disorders with CHIA           About GenesLikeMe

3 Novoseek inferred disease relationships for CHIA gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
asthma 58.4 43 19644363 (3), 16179638 (3), 18845328 (2), 15192232 (2) (see all 15)
gaucher disease 53.8 1 15923370 (1)
inflammation 24.7 7 16584180 (2), 18216571 (1), 19242357 (1), 15192232 (1) (see all 5)

Genetic Association Database (GAD): CHIA
Human Genome Epidemiology (HuGE) Navigator: CHIA (55 documents)

Export disorders for CHIA gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for CHIA gene, integrated from 10 sources (see all 71):
(articles sorted by number of sources associating them with CHIA)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of a novel acidic mammalian chitinase distinct from chitotriosidase. (PubMed id 11085997)1, 2, 3, 9 Boot R.G.... Aerts J.M.F.G. (J. Biol. Chem. 2001)
  2. Acidic mammalian chitinase regulates epithelial cell apoptosis via a chitinolytic-independent mechanism. (PubMed id 19342690)1, 2, 9 Hartl D.... Elias J.A. (J. Immunol. 2009)
  3. Differential enzymatic activity of common haplotypic versions of the human acidic mammalian chitinase protein. (PubMed id 19435888)1, 2, 9 Seibold M.A.... Burchard E.G. (J. Biol. Chem. 2009)
  4. Genetic association of acidic mammalian chitinase with atopic asthma and serum total IgE levels. (PubMed id 18602573)1, 4, 9 Chatterjee R....Ghosh B. (J. Allergy Clin. Immunol. 2008)
  5. Acidic mammalian chitinase in asthmatic Th2 inflammation and IL-13 pathway activation. (PubMed id 15192232)1, 2, 9 Zhu Z....Elias J.A. (Science 2004)
  6. Isolation and mapping of a human lung-specific gene, TSA1902, encoding a novel chitinase family member. (PubMed id 10548734)1, 2, 9 Saito A.... Tanigami A. (Gene 1999)
  7. Polymorphisms of chitinases are not associated with asthma. (PubMed id 20226308)1, 4 Wu A.C....Litonjua A. (J. Allergy Clin. Immunol. 2010)
  8. Joint influences of Acidic-Mammalian-Chitinase with Interleukin-4 and Toll-like receptor-10 with Interleukin-13 in the genetics of asthma. (PubMed id 20444155)1, 4 Heinzmann A....Strauch K. (Pediatr Allergy Immunol 2010)
  9. Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. (PubMed id 20503287)1, 4 Schuurhof A....Janssen R. (Pediatr. Pulmonol. 2010)
  10. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 27159 HGNC: 17432 AceView: CHIA Ensembl:ENSG00000134216 euGenes: HUgn27159
ECgene: CHIA Kegg: 27159 H-InvDB: CHIA

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CHIA Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CHIA gene:
Search GeneIP for patents involving CHIA

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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