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CHD7

GENERAL INFORMATION

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Chromosome

 8

Cytoband

 q12.2

Chromosome location (bp)

 60678778 - 60868028

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000171316 (version 83.38)

Entrez gene

 55636

UniProt

 Q9P2D1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9P2D1

Antibodypedia

 CHD7 antibodies

PROTEIN BROWSER
CHD7-001
CHD7-002
CHD7-003
CHD7-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CHD7-001
ENSP00000392028
ENST00000423902
Q9P2D1 [Direct mapping]
Chromodomain-helicase-DNA-binding protein 7
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001501 [skeletal system development]
GO:0001568 [blood vessel development]
GO:0001701 [in utero embryonic development]
GO:0003007 [heart morphogenesis]
GO:0003682 [chromatin binding]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006364 [rRNA processing]
GO:0007417 [central nervous system development]
GO:0007512 [adult heart development]
GO:0007605 [sensory perception of sound]
GO:0007626 [locomotory behavior]
GO:0007628 [adult walking behavior]
GO:0008015 [blood circulation]
GO:0016568 [chromatin modification]
GO:0016817 [hydrolase activity, acting on acid anhydrides]
GO:0021545 [cranial nerve development]
GO:0021553 [olfactory nerve development]
GO:0021772 [olfactory bulb development]
GO:0030217 [T cell differentiation]
GO:0030540 [female genitalia development]
GO:0035116 [embryonic hindlimb morphogenesis]
GO:0040018 [positive regulation of multicellular organism growth]
GO:0042048 [olfactory behavior]
GO:0042471 [ear morphogenesis]
GO:0042472 [inner ear morphogenesis]
GO:0043010 [camera-type eye development]
GO:0043584 [nose development]
GO:0048752 [semicircular canal morphogenesis]
GO:0048806 [genitalia development]
GO:0048844 [artery morphogenesis]
GO:0050767 [regulation of neurogenesis]
GO:0050890 [cognition]
GO:0060021 [palate development]
GO:0060041 [retina development in camera-type eye]
GO:0060123 [regulation of growth hormone secretion]
GO:0060173 [limb development]
GO:0060324 [face development]
GO:0060429 [epithelium development]
Show all
 2997 aa
335.9 kDa 		No 0
CHD7-002
ENSP00000437061
ENST00000524602
Q9P2D1 [Direct mapping]
Chromodomain-helicase-DNA-binding protein 7
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0001701 [in utero embryonic development]
GO:0003007 [heart morphogenesis]
GO:0003682 [chromatin binding]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006364 [rRNA processing]
GO:0007417 [central nervous system development]
GO:0016568 [chromatin modification]
GO:0016817 [hydrolase activity, acting on acid anhydrides]
GO:0021545 [cranial nerve development]
GO:0030217 [T cell differentiation]
GO:0042472 [inner ear morphogenesis]
GO:0043584 [nose development]
GO:0048806 [genitalia development]
GO:0050890 [cognition]
GO:0060021 [palate development]
GO:0060041 [retina development in camera-type eye]
GO:0060123 [regulation of growth hormone secretion]
GO:0060173 [limb development]
GO:0060324 [face development]
Show all
 948 aa
101.1 kDa 		No 0
CHD7-003
ENSP00000436027
ENST00000525508
Q9P2D1 [Direct mapping]
Chromodomain-helicase-DNA-binding protein 7
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0001701 [in utero embryonic development]
GO:0003007 [heart morphogenesis]
GO:0003682 [chromatin binding]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006364 [rRNA processing]
GO:0007417 [central nervous system development]
GO:0016568 [chromatin modification]
GO:0021545 [cranial nerve development]
GO:0030217 [T cell differentiation]
GO:0042472 [inner ear morphogenesis]
GO:0043584 [nose development]
GO:0048806 [genitalia development]
GO:0050890 [cognition]
GO:0060021 [palate development]
GO:0060041 [retina development in camera-type eye]
GO:0060123 [regulation of growth hormone secretion]
GO:0060173 [limb development]
GO:0060324 [face development]
Show all
 1138 aa
127.8 kDa 		No 0
CHD7-004
ENSP00000436492
ENST00000526846
E9PP20 [Direct mapping]
Chromodomain-helicase-DNA-binding protein 7
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 33 aa
3.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.