CHD7 Gene
protein-coding GIFtS: 60
GCID: GC08P061642
|
|
chromodomain helicase DNA binding protein 7
| |
Aliases
for CHD7 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromodomain Helicase DNA Binding Protein 71 2 | | HH52 | | KIAA14161 3 | | Chromodomain Helicase DNA Binding Protein 7 Isoform CRA_e2 | | ATP-Dependent Helicase CHD72 3 | | Chromodomain-Helicase-DNA-Binding Protein 72 | | IS32 5 | | CHD-73 | | KAL52 5 | | EC 3.6.4.123 | | FLJ203571 | | EC 3.6.18 | | FLJ203611 | | |
Export aliases for CHD7 gene to outside databasesPrevious GC identifers: GC00U900988 GC08P061753 GC08P057078 |
Summaries
for CHD7 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CHD7:
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found insome patients with the CHARGE syndrome. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1Function: Probable transcription regulator
Gene Wiki entry for CHD7
|
Genomic Views
for CHD7 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_008183.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CHD7 gene promoter:
HFH-3 Nkx3-1 AhR Nkx2-5 Arnt AREB6 FOXI1 STAT3 ZID
Other transcription factors
Search SABiosciences Chromatin IP Primers for CHD7
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHD7 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8q12.2 Ensembl cytogenetic band: 8q12.1 HGNC cytogenetic band: 8q12.2CHD7 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08P061642: view genomic region
(about GC identifiers)
Start:
|
61,591,337 bp from pter |
End:
|
61,779,465 bp from pter |
Size:
|
188,129 bases |
Orientation:
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plus strand |
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Proteins
for CHD7 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1 (See
protein sequence)Recommended Name: Chromodomain-helicase-DNA-binding protein 7 Size: 2997 amino acids; 335927 Da
Subunit: May interact with CTCF. Interacts with CHD8
Subcellular location: Nucleus
Sequence caution: Sequence=AAH14681.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=AAH14681.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence; Sequence=AAH53890.1;Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH68000.1; Type=Erroneous initiation;Note=Translation N-terminally extended; Sequence=AAH80627.1; Type=Erroneous initiation; Note=Translation N-terminallyshortened; Sequence=AAH80627.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence; Sequence=AAI10819.1;Type=Miscellaneous discrepancy; Note=Potential poly-A sequence; Sequence=BAA91113.1; Type=Erroneous initiation;Note=Translation N-terminally extended; Sequence=BAA91116.1; Type=Erroneous initiation; Note=Translation N-terminallyextended;
3 PDB 3D structures from  and Proteopedia  for CHD7:2CKC (3D)
2V0E (3D)
2V0F (3D)
Secondary accessions: Q05DI5 Q2TAN4 Q66K35 Q7Z6C0 Q7Z7Q2 Q9NXA0 Q9NXA3Alternative splicing: 2 isoforms: Q9P2D1-1 Q9P2D1-2 (May be due to an intron retention)Explore the universe of human proteins at neXtProt for CHD7: NX_Q9P2D1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9P2D1
4/51 DME Specific Peptides for CHD7 (Q9P2D1) (see all 51)
CHD7 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_060250.2
ENSEMBL proteins: ENSP00000307304 ENSP00000436492 ENSP00000437061 ENSP00000436027 ENSP00000432627 ENSP00000433336 ENSP00000392028
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table
CHD7 for ontologies About GeneDecksing
CHD7 Antibody Products:
Assay Products for CHD7: |
Protein
Domains /
Families
for CHD7 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CHD7 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry Q9P2D1ProtoNet protein and cluster: Q9P2D1 4 Blocks protein families: IPB000330 SNF2 related domain IPB000953 Chromo domain IPB002464 ATP-dependent helicase IPB006576 Domain in transcription and CHROMO domain helicase
UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1Similarity: Belongs to the SNF2/RAD54 helicase familySimilarity: Contains 2 chromo domainsSimilarity: Contains 1 helicase ATP-binding domainSimilarity: Contains 1 helicase C-terminal domain |
Function
for CHD7 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1Function: Probable transcription regulatorCatalytic activity: ATP + H(2)O = ADP + phosphateEnzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHD7 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHD7
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CHD7 (NM_017780) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHD7 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CHD7 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD7 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
CHD7 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for CHD7:
Animal Models:
Mouse knock-out Chd7tm1.2Dmm for CHD7
15/20 MGI mutant phenotypes (inferred from 17 alleles ) (MGI details for Chd7) (see all 20):
CHD7 for phenotypes About GeneDecksing
|
Pathways & Interactions
for CHD7 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Noncanonical Wnt signaling pathway | | | 2 | Chromatin Regulation / Acetylation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for CHD7
1  BioSystems Pathway for CHD7
CHD7 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHD7
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/584 Interacting proteins for CHD7 (Q9P2D11, 2, 3 ENSP000003920284) via UniProtKB, MINT, STRING, and/or I2D (see all 584)About this table
Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31): About this table
CHD7 for ontologies About GeneDecksing
|
Drugs & Compounds
for CHD7 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CHD7
Search CenterWatch for drugs/clinical trials and news about CHD7
|
Transcripts
for CHD7 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CHD7 gene: NM_017780.3 Unigene Clusters for CHD7: Chromodomain helicase DNA binding protein 7 Hs.20395 [show with all ESTs], Hs.733236 [show with all ESTs]Unigene Representative Sequences: NM_017780, BC11081812 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000307121(uc022aux.1) ENST00000526846 ENST00000524602 ENST00000525508(uc003xuf.3)
ENST00000527825 ENST00000527900 ENST00000527921 ENST00000529472 ENST00000531695
ENST00000532149 ENST00000528280 ENST00000423902(uc003xue.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHD7 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHD7
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CHD7 (NM_017780) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHD7 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CHD7 |
Additional cDNA sequence: BC014681.1 BC033116.1 BC041018.1 BC053890.1 BC068000.1 BC080627.1 BC110818.1 11 DOTS entries: DT.101962994 DT.100783841 DT.111964 DT.86838611 DT.92426059 DT.121492349 DT.95079355 DT.95274296 DT.95318946 DT.97785259 DT.95307756 24/195 AceView cDNA sequences (see all 195): AW500424 AA918465 AI702884 AI554924 BU846100 AA315015 BC014681 CK904450 BC051264 BU166072 BU930932 BF064056 BE205970 BU617003 AW449676 CR602498 AA366385 BM023191 BC068000 AA953326 AI565193 AL706276 BX641423 AW148832
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for CHD7 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 25 | ^ | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for CHD7
|
Expression
for CHD7 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CHD7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGCCAAATG
About this image
See CHD7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHD7
SOURCE GeneReport for Unigene clusters: Hs.20395 Hs.733236
UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1Tissue specificity: Widely expressed in fetal and adult tissues
SABiosciences Expression via Pathway-Focused PCR Arrays including CHD7:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHD7
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CHD7 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHD7 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHD7 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD7 |
Orthologs
for CHD7 gene
(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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for CHD7 gene from 6/26 species (see all 26) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
CHD71 |
chromodomain helicase DNA binding protein 7 |
85.42(n)
92.77(a) |
|
421140 NM_001077586.1 NP_001071054.1 |
lizard
(Anolis carolinensis) |
Reptilia |
CHD76 |
-- |
89(a) |
1 ↔ 1 |
4(28560307-28666823) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.167302 |
Xenopus laevis transcribed sequence with weak similarity more |
80.65(n) |
|
CA791047.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
570635172 |
-- |
78.87(n) |
|
57063517 |
fruit fly
(Drosophila melanogaster) |
Insecta |
kis1 |
kismet |
51.56(n)
47.69(a) |
|
33185 NM_078717.3 NP_523441.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
chd-71 |
Protein CHD-7 |
45.7(n)
36(a) |
|
172079 NM_059025.3 NP_491426.2 |
ENSEMBL Gene Tree for CHD7 (if available)
TreeFam Gene Tree for CHD7 (if available) |
Paralogs
for CHD7 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CHD7 gene
- CHD62 CHD52 CHD92 CHD42 CHD12 CHD82 CHD32 CHD22
5 SIMAP similar genes for CHD7 using alignment to 7 protein entries: CHD7_HUMAN (see all proteins):CHD8 CHD9 CHD6 HELLS SMARCA1
CHD7 for paralogs About GeneDecksing
|
Genomic Variants
for CHD7 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CHD7 (61591337 - 61779465 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CHD7
1 CNV: 100367
Human Gene Mutation Database (HGMD): CHD7
| SABiosciences Cancer Mutation PCR Assays |
| 1 SABiosciences qBiomarker Copy Number PCR Array containing CHD7: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHD7 |
|
Disorders
/ Diseases
for CHD7 gene
(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.)
About This Section
|
CHD7 for disorders About GeneDecksing
OMIM gene information: 608892
OMIM disorders: 214800 608765 612370 146110
UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1
Defects in CHD7 are a cause of CHARGE syndrome (CHARGES) [MIM:214800]. This syndrome, which is a common causeof congenital anomalies, is characterized by a non-random pattern of congenital anomalies including choanal atresiaand malformations of the heart, inner ear, and retina Defects in CHD7 are a cause of susceptibility to idiopathic scoliosis type 3 (IS3) [MIM:608765]. Idiopathicscoliosis (IS) is the most common spinal deformity in children Defects in CHD7 are the cause of hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]. Adisorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with lowlevels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Insome cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineuralhearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts.Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonicmigration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathichypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell,it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)
20/26  diseases for CHD7 (see all 26): About MalaCardscharge syndrome esophageal atresia/tracheoesophageal fistula tracheoesophageal fistula scoliosis, idiopathic 3
cleft lip/palate patent ductus arteriosus lichen nitidus kallmann syndrome 5
choanal atresia cleft lip delayed puberty tooth agenesis
kallmann syndrome esophageal atresia scoliosis hypogonadotropism
coloboma anosmia renal agenesis digeorge syndrome
6 diseases from the University of Copenhagen DISEASES database for CHD7:Choanal atresia Coloboma Klinefelter's syndrome Hypogonadism
Tinea favosa Congenital heart defect 6 Novoseek disease relationships for CHD7 gene About this table
GeneTests: CHD7
CHARGE SyndromeKallmann Syndrome
Genetic Association Database (GAD): CHD7
Human Genome Epidemiology (HuGE) Navigator: CHD7 (9 documents)
Export disorders for CHD7 gene to outside databases
|
Publications
for CHD7 gene (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)
About This Section
|
PubMed articles for CHD7 gene, integrated from 9 sources (see all 88):
(articles sorted by number of sources associating them with CHD7) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (PubMed id 15300250)1, 2, 3 Vissers L.E.L.M.... Geurts van Kessel A. (2004)
- Mutation update on the CHD7 gene involved in CHARGE syndrome. (PubMed id 22461308)1, 2 Janssen N.... Hoefsloot L.H. (2012)
- CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. (PubMed id 21554267)1, 2 Pauli S.... Kohlhase J. (2012)
- CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. (PubMed id 21931733)1, 2 Song M.H.... Kim U.K. (2011)
- CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. (PubMed id 20453063)1, 2 Batsukh T....Pauli S. (2010)
- Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. (PubMed id 18074359)1, 2 Jongmans M.C....van Ravenswaaij C.M. (2008)
- Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (PubMed id 18834967)1, 2 Kim H.-G.... Layman L.C. (2008)
- CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. (PubMed id 17436250)1, 2 Gao X.... Wise C. (2007)
- Solution structure of the BRK domains from CHD7. (PubMed id 17603073)1, 2 Allen M.D.... Bycroft M. (2007)
- CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. (PubMed id 16155193)1, 4 Jongmans M.C....van Ravenswaaij C.M. (2006)
|
External Searches for CHD7 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CHD7 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing CHD7 gene
(According to HUGE)
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Specialized Databases showing CHD7 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for CHD7 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHD7 | | CHD7 database | http://www.chd7.org/molgenis.do |
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| Patent Information for CHD7 gene:
Search GeneIP for patents involving CHD7
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for CHD7 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for CHD7 | | OriGene shRNA RFP for CHD7 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHD7 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHD7 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CHD7 | | OriGene 3'-UTR Clone for CHD7 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHD7 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHD7 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CHD7 | | OriGene Custom Protein Services for CHD7 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CHD7 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHD7 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHD7 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHD7 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHD7 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHD7 |
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| | Antibodies & Assays for CHD7 (CHD-7) |
| | | | Search Tocris compounds for CHD7 |
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 | | | CHD7 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD7 |
|  |  |  | | | | Search ThermoFisher Antibodies for CHD7 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CHD7 |
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