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CECR2

GENERAL INFORMATION

Gene name

 CECR2

Gene description

 Cat eye syndrome chromosome region, candidate 2

Protein class

 Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (cerebral cortex)
GTEx:Tissue enhanced (cerebellum)
FANTOM5:Tissue enhanced (pituitary gland)

Protein evidence

 Evidence at protein level

Protein expression

 General nuclear and cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA002943
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebral cortex)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebellum)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (pituitary gland)

GENE INFORMATION

Gene name

 CECR2 (HGNC Symbol)

Synonyms

 KIAA1740

Description

 Cat eye syndrome chromosome region, candidate 2 (HGNC Symbol)

Entrez gene summary

 This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Chromosome

 22

Cytoband

Chromosome location (bp)

 17359949 - 17558149

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000099954 (version 83.38)

Entrez gene

 27443

UniProt

 Q9BXF3 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9BXF3

Antibodypedia

 CECR2 antibodies

PROTEIN BROWSER
CECR2-001
CECR2-002
CECR2-201
CECR2-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CECR2-001
ENSP00000477529
ENST00000612582
A0A087WT21 [Direct mapping]
Cat eye syndrome critical region protein 2
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
GO:0021915 [neural tube development]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0090537 [CERF complex]
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 1442 aa
159.7 kDa 		No 0
CECR2-002
ENSP00000383428
ENST00000400585
B7WPH3 [Direct mapping]
Cat eye syndrome critical region protein 2
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0001842 [neural fold formation]
GO:0001843 [neural tube closure]
GO:0005515 [protein binding]
GO:0005719 [nuclear euchromatin]
GO:0007338 [single fertilization]
GO:0021915 [neural tube development]
GO:0031010 [ISWI-type complex]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0060122 [inner ear receptor stereocilium organization]
GO:0090102 [cochlea development]
GO:0090537 [CERF complex]
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 1300 aa
143.1 kDa 		No 0
CECR2-201
ENSP00000262608
ENST00000262608
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 1301 aa
143.1 kDa 		No 0
CECR2-202
ENSP00000341219
ENST00000342247
Q9BXF3 [Direct mapping]
Cat eye syndrome critical region protein 2
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000910 [cytokinesis]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006309 [apoptotic DNA fragmentation]
GO:0007010 [cytoskeleton organization]
GO:0016192 [vesicle-mediated transport]
GO:0021915 [neural tube development]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0090537 [CERF complex]
GO:0097194 [execution phase of apoptosis]
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 1484 aa
164.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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