• Gene id: 421

Gene Summary

• Gene Symbol: ARVCF   Gene   UCSC   Ensembl
• Gene name: ARVCF delta catenin family member
• Alternate names: armadillo repeat protein deleted in velo-cardio-facial syndrome, armadillo repeat gene deleted in velocardiofacial syndrome,
• Gene location: 22q11.21 (31032406: 30841253)     Exons: 18     NC_000010.11
• Gene summary(Entrez): 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 a
• OMIM: 602269

SNPs

rs397515340

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000006.12   g.43670919_43670921GAA[1]
NC_000006.12   g.43670919_43670921GAA[3]
NC_000006.11   g.43638656_43638658GAA[1]
NC_000006.11   g.43638656_43638658GAA[3]
NG_023436.1   g.30890_30892GAA[1]
NG_023436.1   g.30890_30892GAA[3]
NM_152732.5   c.801_803GAA[1]
NM  

Protein Summary

• Protein general information: O00192  
  • Name: Armadillo repeat protein deleted in velo cardio facial syndrome
  • Length: 962  
  • Mass: 104642
  • Tissue specificity: Found in all the examined tissues including heart, brain, liver and kidney. Found at low level in lung.
• Sequence:

  MEDCNVHSAASILASVKEQEARFERLTRALEQERRHVALQLERAQQPGMVSGGMGSGQPLPMAWQQLVLQEQSPG
  SQASLATMPEAPDVLEETVTVEEDPGTPTSHVSIVTSEDGTTRRTETKVTKTVKTVTTRTVRQVPVGPDGLPLLD
  GGPPLGPFADGALDRHFLLRGGGPVATLSRAYLSSGGGFPEGPEPRDSPSYGSLSRGLGMRPPRAGPLGPGPGDG
  CFTLPGHREAFPVGPEPGPPGGRSLPERFQAEPYGLEDDTRSLAADDEGGPELEPDYGTATRRRPECGRGLHTRA
  YEDTADDGGELADERPAFPMVTAPLAQPERGSMGSLDRLVRRSPSVDSARKEPRWRDPELPEVLAMLRHPVDPVK
  ANAAAYLQHLCFENEGVKRRVRQLRGLPLLVALLDHPRAEVRRRACGALRNLSYGRDTDNKAAIRDCGGVPALVR
  LLRAARDNEVRELVTGTLWNLSSYEPLKMVIIDHGLQTLTHEVIVPHSGWEREPNEDSKPRDAEWTTVFKNTSGC
  LRNVSSDGAEARRRLRECEGLVDALLHALQSAVGRKDTDNKSVENCVCIMRNLSYHVHKEVPGADRYQEAEPGPL
  GSAVGSQRRRRDDASCFGGKKAKEEWFHQGKKDGEMDRNFDTLDLPKRTEAAKGFELLYQPEVVRLYLSLLTESR
  NFNTLEAAAGALQNLSAGNWMWATYIRATVRKERGLPVLVELLQSETDKVVRAVAIALRNLSLDRRNKDLIGSYA
  MAELVRNVRNAQAPPRPGACLEEDTVVAVLNTIHEIVSDSLDNARSLLQARGVPALVALVASSQSVREAKAASHV
  LQTVWSYKELRGTLQKDGWTKARFQSAAATAKGPKGALSPGGFDDSTLPLVDKSLEGEKTGSRDVIPMDALGPDG
  YSTVDRRERRPRGASSAGEASEKEPLKLDPSRKAPPPGPSRPAVRLVDAVGDAKPQPVDSWV

• Structural information:
  • Interpro: IPR016024  IPR000225  IPR028444  IPR028435  
  • Prosite: PS50176
  • STRING: ENSP00000263207
• Other Databases: GeneCards:  ARVCF  Malacards:  ARVCF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005911	cell-cell junction	IBA	cellular component
GO:0005912	adherens junction	IBA	cellular component
GO:0045296	cadherin binding	IBA	molecular function
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0007043	cell-cell junction assembly	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016339	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005622	intracellular	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
DiGeorge syndrome	PMID:9126485
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq