ARVCF - ARVCF delta catenin family member Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 421

About ARVCF

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,965,134-20,016,823 (from NCBI)

This gene has 11 transcripts (splice variants), 278 orthologues, 6 paralogues and is associated with 1 phenotype. Broad expression in spleen (RPKM 5.1), thyroid (RPKM 3.0) and 25 other tissues.

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]

ARVCF Products (2)

mRNA Protein Name
NM_001410839.1 NP_001397768.1 splicing regulator ARVCF isoform 2
NM_001670.3 NP_001661.1 splicing regulator ARVCF isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables cadherin binding IPI
IPI: Inferred from physical interaction
10725230 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19706687 GOA
Biological Process GO Annotation Evidence References Source
involved in RNA splicing IMP
IMP: Inferred from mutant phenotype
24644279 GOA
Cellular Component GO Annotation Evidence References Source
located in adherens junction IDA
IDA: Inferred from direct assay
10725230 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
24644279 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10725230 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARVCF Protein Structure

Arm

Arm: Armadillo/beta-catenin-like repeat (393 - 428)

Arm

Arm: Armadillo/beta-catenin-like repeat (433 - 473)

Arm

Arm: Armadillo/beta-catenin-like repeat (658 - 692)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 962 a.a.
Protein Preferred Names Protein Names

splicing regulator ARVCF

armadillo repeat protein deleted in velo-cardio-facial syndrome

  • armadillo repeat gene deleted in velocardiofacial syndrome

Related Diseases

Diseases Alias
Velocardiofacial Syndrome

  • Shprintzen Syndrome

  • VCFS

  • Chromosome 22q11.2 Deletion Syndrome

  • Vcf Syndrome

  • Shprintzen Vcf Syndrome

  • Vcf-Velocardiofacial Syndrome

  • Velo-Cardio-Facial Syndrome

  • Digeorge Syndrome

  • 22q11 Deletion Syndrome

  • Conotruncal Anomaly Face Syndrome
Chromosome 22q11.2 Deletion Syndrome, Distal

  • 22q11.2 Deletion Syndrome

  • Autosomal Dominant Opitz G/Bbb Syndrome

  • Catch22

  • Cayler Cardiofacial Syndrome

  • Conotruncal Anomaly Face Syndrome

  • Digeorge Syndrome

  • Sedlackova Syndrome

  • Shprintzen Syndrome

  • Velocardiofacial Syndrome

  • 22q11.2 Distal Deletion Syndrome

  • Distal 22q11.2 Microdeletion Syndrome

  • 22q11.2ds

  • Vcfs

  • Velo-Cardio-Facial Syndrome

  • Distal Chromosome 22q11.2 Deletion Syndrome

  • Chromosome 22q11.2 Deletion Syndrome Distal

  • Chromosome 22q11.2 Deletion Syndrome

  • Deletion 22q11.2 Syndrome

  • 22q11ds

  • Catch 22

  • Digeorge Sequence

  • Microdeletion 22q11.2

  • Monosomy 22q11

  • Takao Syndrome

  • Distal Del(22)(Q11.2)

  • Distal Monosomy 22q11.2

  • Catch 22 Syndrome

  • Chromosome Deletion Syndrome 22q11.2, Distal
Pinguecula
Conjunctival Degeneration
Cri-Du-Chat Syndrome

  • 5p Deletion Syndrome

  • 5p Partial Monosomy Syndrome

  • Monosomy 5p

  • Cat Cry Syndrome

  • Chromosome 5p Deletion Syndrome

  • Cri Du Chat Syndrome

  • 5p- Syndrome

  • 5p Minus Syndrome

  • Chromosome 5p- Syndrome

  • Chromosome 5 Short Arm Deletion Syndrome

  • Chromosome 5p Deletion

  • Deletion 5p

  • Cri Du Chat

  • 5p Partial Deletion Syndrome

  • Partial Deletion Of Short Arm Of Chromosome 5 Syndrome
Schizophrenia

  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1
Chromosomal Deletion Syndrome
Hirschsprung Disease 1

  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Hirschsprung'S Disease

  • Congenital Megacolon

  • Congenital Intestinal Aganglionosis

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01050 ARVCF Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus ARVCF VGNC VGNC:49535
Mus musculus ARVCF MGD MGI:109620
Canis familiaris ARVCF VGNC VGNC:49589
Macaca mulatta ARVCF VGNC VGNC:70027
Felis catus ARVCF VGNC VGNC:68319
Rattus norvegicus ARVCF RGD RGD:1306655
Others ARVCF NCBI