CECR2

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enhanced (skeletal muscle)
GTEx:Tissue enhanced (cerebellum)

Protein evidence

Evidence at protein level

Protein localization

General nuclear and cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

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

Data reliability

Uncertain based on 1 antibody.
HPA002943
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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

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebellum)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

27443

UniProt

Q9BXF3 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BXF3

Antibodypedia

CECR2 antibodies


PROTEIN BROWSER

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ENST00000262608
 
ENST00000342247
 
ENST00000400585
 
ENST00000612582
 
 
 
 


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)

CECR2-001 ENSP00000477529
ENST00000612582
Show » Show » 1442 159.7 No 0
CECR2-002 ENSP00000383428
ENST00000400585
B7WPH3
Show all »
Show » Show » 1300 143.1 No 0
CECR2-201 ENSP00000262608
ENST00000262608
Q9BXF3
Show all »
Show » Show » 1484 164.2 No 0
CECR2-202 ENSP00000341219
ENST00000342247
Q9BXF3
Show all »
Show » Show » 1484 164.2 No 0