About   Help   FAQ
Arvcf Gene Detail
Summary
  • Symbol
    Arvcf
  • Name
    armadillo repeat gene deleted in velo-cardio-facial syndrome
  • Feature Type
    protein coding gene
  • IDs
    MGI:109620
    NCBI Gene: 11877
  • Gene Overview
    MyGene.info: ARVCF
Location & Maps
more
  • Sequence Map
    Chr16:18348182-18407076 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      58895 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 11.37 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    ARVCF, armadillo repeat gene deleted in velocardiofacial syndrome
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ARVCF, armadillo repeat gene deleted in velocardiofacial syndrome
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 421
    neXtProt AC: NX_O00192

  • Chr Location
    22q11.21; chr22:19966603-20016802 (-)  GRCh38.p2

Human Diseases
less
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    5 phenotypes from multigenic genotypes
    51 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    79
  • Gene trapped
    64
  • Targeted
    14
  • Transgenic
    1
  • Genomic Mutations
    9 involving Arvcf
  • Incidental Mutations
Mice homozygous for a targeted allele display abnormal gait and cataracts.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026041 VEGA Gene Model | MGI Sequence Detail 58895 C57BL/6J ±  kb
transcript OTTMUST00000064282 VEGA | MGI Sequence Detail 4800 Not Applicable  
polypeptide OTTMUSP00000031897 VEGA | MGI Sequence Detail 962 Not Applicable  
For the selected sequence
Polymorphisms
less
  • RFLP
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000004333 armadillo repeat protein deleted in velo-cardio-facial syndrome
  • InterPro Domains
    IPR000225 Armadillo
    IPR011989 Armadillo-like helical
    IPR028444 Armadillo repeat protein deleted in velo-cardio-facial syndrome
    IPR016024 Armadillo-type fold
    IPR028435 Plakophilin/Delta catenin
Molecular
Reagents
less
  • All nucleic 110
    Genomic 24
    cDNA 84
    Primer pair 1
    Other 1

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-39619
References
more
  • Summaries
    All 45
    Developmental Gene Expression 8
    Diseases 12
    Gene Ontology 4
    Phenotypes 51
  • Earliest
    J:39493 Sirotkin H, et al., Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. Genomics. 1997 Apr 1;41(1):75-83
  • Latest
    J:221584 Quesnel-Vallieres M, et al., Essential roles for the splicing regulator nSR100/SRRM4 during nervous system development. Genes Dev. 2015 Apr 1;29(7):746-59

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/27/2016
MGI 6.05
The Jackson Laboratory