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C2orf71

GENERAL INFORMATION

Gene name

 C2orf71

Gene description

 Chromosome 2 open reading frame 71

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Not detected
GTEx:Not detected
FANTOM5:Tissue enriched (retina)

Protein evidence

 Evidence at protein level

Protein expression

 Estimation of protein expression could not be performed. View primary data.

DATA RELIABILITY

Data reliability
description

 RNA-based expert annotation gave inconclusive results. No RNA expression data detected and pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA051819
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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
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Prostate

PROTEIN EXPRESSION OVERVIEW
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Not detected
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Not detected
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (retina)

GENE INFORMATION

Gene name

 C2orf71 (HGNC Symbol)

Synonyms

 FLJ34931, RP54

Description

 Chromosome 2 open reading frame 71 (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]

Chromosome

 2

Cytoband

 p23.2

Chromosome location (bp)

 29060976 - 29074261

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000179270 (version 83.38)

Entrez gene

 388939

UniProt

 A6NGG8 (UniProt - Evidence at protein level)

neXtProt

 NX_A6NGG8

Antibodypedia

 C2orf71 antibodies

PROTEIN BROWSER
C2orf71-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
C2orf71-001
ENSP00000332809
ENST00000331664
A6NGG8 [Direct mapping]
Uncharacterized protein C2orf71
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0001750 [photoreceptor outer segment]
GO:0007601 [visual perception]
GO:0050896 [response to stimulus]
GO:0072372 [primary cilium]
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 1288 aa
139.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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