C9orf72

GENERAL INFORMATION

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Gene name

C9orf72

Gene description

Chromosome 9 open reading frame 72

Protein class

Disease related genes
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

Most normal tissues displayed weak to moderate cytoplasmic positivity. Strong cytoplasmic staining was observed in the intestine, prostate, ovarian follicles and glomeruli. Hepatocytes, squamous epithelia, cells in CNS and breast were generally negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA023873
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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
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

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

C9orf72 (HGNC Symbol)

Synonyms

MGC23980

Description

Chromosome 9 open reading frame 72 (HGNC Symbol)

Entrez gene summary

Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Chromosome

9

Cytoband

p21.2

Chromosome location (bp)

27546545 - 27573866

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000147894 (version 78.38)

Entrez gene

203228

UniProt

Q96LT7 (UniProt - Evidence at protein level)

neXtProt

NX_Q96LT7

Antibodypedia

C9orf72 antibodies


PROTEIN BROWSER

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ENST00000379995
 
ENST00000379997
 
ENST00000380003
 
ENST00000619707
 
 
 
 


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)

C9orf72-001 ENSP00000369339
ENST00000380003
Q96LT7
Show all »
Show » Show » 481 54.3 No 0
C9orf72-003 ENSP00000369333
ENST00000379997
Q96LT7
Show all »
Show » Show » 222 24.8 No 0
C9orf72-005 ENSP00000369331
ENST00000379995
Q96LT7
Show all »
Show » Show » 222 24.8 No 0
C9orf72-201 ENSP00000482753
ENST00000619707
Q96LT7
Show all »
Show » Show » 481 54.3 No 0