CHD7

GENERAL INFORMATION

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Gene name

CHD7

Gene description

Chromodomain helicase DNA binding protein 7

Protein class

Cancer-related genes
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Majority of normal tissues showed moderate to strong nuclear and/or cytoplasmic positivity. Placenta, breast, lung, liver, spleen and soft tissues were generally negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA066585
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

CHD7 (HGNC Symbol)

Synonyms

CRG, FLJ20357, FLJ20361, KIAA1416

Description

Chromodomain helicase DNA binding protein 7 (HGNC Symbol)

Entrez gene summary

This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. [provided by RefSeq, Jul 2008]

Chromosome

8

Cytoband

q12.2

Chromosome location (bp)

60678778 - 60868028

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171316 (version 78.38)

Entrez gene

55636

UniProt

Q9P2D1 (UniProt - Evidence at protein level)

neXtProt

NX_Q9P2D1

Antibodypedia

CHD7 antibodies


PROTEIN BROWSER

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ENST00000423902
 
ENST00000524602
 
ENST00000525508
 
ENST00000526846
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CHD7-001 ENSP00000392028
ENST00000423902
Q9P2D1
Show all »
Show » Show » 2997 335.9 No 0
CHD7-002 ENSP00000437061
ENST00000524602
Q9P2D1
Show all »
Show » Show » 948 101.1 No 0
CHD7-003 ENSP00000436027
ENST00000525508
Q9P2D1
Show all »
Show » Show » 1138 127.8 No 0
CHD7-004 ENSP00000436492
ENST00000526846
E9PP20
Show all »
Show » 33 3.5 No 0