C5orf42

GENERAL INFORMATION

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Gene name

C5orf42

Gene description

Chromosome 5 open reading frame 42

Protein class

Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

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

Cytoplasmic expression of varying intensity in several tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA036775 , HPA036776
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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

Cervix, uterine



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

C5orf42 (HGNC Symbol)

Synonyms

FLJ13231, JBTS17

Description

Chromosome 5 open reading frame 42 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]

Chromosome

5

Cytoband

p13.2

Chromosome location (bp)

37106228 - 37249428

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000197603 (version 78.38)

Entrez gene

65250

UniProt

Q9H799 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H799

Antibodypedia

C5orf42 antibodies


PROTEIN BROWSER

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ENST00000425232
 
ENST00000508244
 
ENST00000511824
 
ENST00000514429
 
 
 
 


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)

C5orf42-001 ENSP00000421690
ENST00000508244
Q9H799
Show all »
Show » Show » 3197 361.7 No 3
C5orf42-013 ENSP00000473657
ENST00000511824
Show » 496 55.5 No 0
C5orf42-014 ENSP00000424223
ENST00000514429
H0Y9I8
Show all »
Show » 2263 255.5 No 0
C5orf42-201 ENSP00000389014
ENST00000425232
Q9H799
Show all »
Show » Show » 3197 361.7 No 3