ARVCF

GENERAL INFORMATION

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Gene name

ARVCF

Gene description

Armadillo repeat gene deleted in velocardiofacial syndrome

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:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Membranous expression mainly in pancreatic islets, thyroid gland and epididymis.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA063675 , CAB016162
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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

Epididymis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ARVCF

Synonyms

Description

Armadillo repeat gene deleted in velocardiofacial syndrome (HGNC Symbol)

Entrez gene summary

Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]

Chromosome

22

Cytoband

q11.21

Chromosome location (bp)

19969896 - 20016808

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000099889 (version 78.38)

Entrez gene

421

UniProt

O00192 (UniProt - Evidence at protein level)

neXtProt

NX_O00192

Antibodypedia

ARVCF antibodies


PROTEIN BROWSER

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ENST00000263207
 
ENST00000401994
 
ENST00000406259
 
ENST00000406522
 
 
 
 


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)

ARVCF-001 ENSP00000263207
ENST00000263207
O00192
Show all »
Show » Show » 962 104.6 No 0
ARVCF-011 ENSP00000384341
ENST00000401994
O00192
Show all »
Show » Show » 899 97.7 No 0
ARVCF-012 ENSP00000384732
ENST00000406522
C9JJX6
Show all »
Show » Show » 893 96.8 No 0
ARVCF-013 ENSP00000385444
ENST00000406259
E9PDC3
Show all »
Show » Show » 956 103.8 No 0