ARVCF (ARVCF delta catenin family member)

Gene

• Entrez ID: 421
• Gene name: ARVCF delta catenin family member
• Gene symbol: ARVCF
• Synonyms (NCBI Gene): -
• Chromosome: 22
• Chromosome location: 22q11.21
• 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 a

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050721	hsa-miR-18a-5p	CLASH	23622248
MIRT801491	hsa-miR-1915	CLIP-seq
MIRT801492	hsa-miR-2861	CLIP-seq
MIRT801493	hsa-miR-3151	CLIP-seq
MIRT801494	hsa-miR-4265	CLIP-seq
MIRT801495	hsa-miR-4296	CLIP-seq
MIRT801496	hsa-miR-4312	CLIP-seq
MIRT801497	hsa-miR-4322	CLIP-seq
MIRT801498	hsa-miR-4446-3p	CLIP-seq
MIRT801499	hsa-miR-4447	CLIP-seq
MIRT801500	hsa-miR-4472	CLIP-seq
MIRT801501	hsa-miR-4492	CLIP-seq
MIRT801502	hsa-miR-4498	CLIP-seq
MIRT801503	hsa-miR-4505	CLIP-seq
MIRT801504	hsa-miR-4685-5p	CLIP-seq
MIRT801505	hsa-miR-491-5p	CLIP-seq
MIRT801506	hsa-miR-762	CLIP-seq
MIRT1936582	hsa-miR-223	CLIP-seq
MIRT1936583	hsa-miR-29a	CLIP-seq
MIRT1936584	hsa-miR-29b	CLIP-seq
MIRT1936585	hsa-miR-29c	CLIP-seq
MIRT1936586	hsa-miR-3065-3p	CLIP-seq
MIRT1936587	hsa-miR-377	CLIP-seq
MIRT1936588	hsa-miR-4697-3p	CLIP-seq
MIRT1936589	hsa-miR-486-3p	CLIP-seq
MIRT1936590	hsa-miR-767-5p	CLIP-seq
MIRT2176458	hsa-miR-1224-3p	CLIP-seq
MIRT2176459	hsa-miR-1226	CLIP-seq
MIRT2176460	hsa-miR-1260	CLIP-seq
MIRT2176461	hsa-miR-1260b	CLIP-seq
MIRT2176462	hsa-miR-1280	CLIP-seq
MIRT2176463	hsa-miR-3135	CLIP-seq
MIRT2176464	hsa-miR-3182	CLIP-seq
MIRT2176465	hsa-miR-4323	CLIP-seq
MIRT2479703	hsa-miR-1205	CLIP-seq
MIRT2479704	hsa-miR-1470	CLIP-seq
MIRT2479705	hsa-miR-1909	CLIP-seq
MIRT801491	hsa-miR-1915	CLIP-seq
MIRT2479706	hsa-miR-4270	CLIP-seq
MIRT2479707	hsa-miR-4441	CLIP-seq
MIRT2479703	hsa-miR-1205	CLIP-seq
MIRT2479704	hsa-miR-1470	CLIP-seq
MIRT2479705	hsa-miR-1909	CLIP-seq
MIRT801491	hsa-miR-1915	CLIP-seq
MIRT2479706	hsa-miR-4270	CLIP-seq
MIRT2479707	hsa-miR-4441	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19706687, 24644279, 25009281
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10725230, 24644279
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24644279
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IDA	10725230, 24644279
GO:0005912	Component	Adherens junction	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	9126485
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	IMP	24644279
GO:0045296	Function	Cadherin binding	IBA
GO:0045296	Function	Cadherin binding	IEA
GO:0045296	Function	Cadherin binding	IPI	10725230
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA

Other IDs

• MIM: 602269
• HGNC: 728
• e!Ensembl: ENSG00000099889

Protein

• UniProt ID: O00192
• Protein name: Splicing regulator ARVCF (Armadillo repeat protein deleted in velo-cardio-facial syndrome)
• Protein function: Contributes to the regulation of alternative splicing of pre-mRNAs.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00514	Arm	389 → 429	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	432 → 473	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	654 → 692	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	701 → 738	Armadillo/beta-catenin-like repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Found in all the examined tissues including heart, brain, liver and kidney. Found at low level in lung. Expressed in dermal connective tissue, salivary gland duct and in the corneal layer (at protein level) (PubMed:30479852). Expressed
• Sequence:

  MEDCNVHSAASILASVKEQEARFERLTRALEQERRHVALQLERAQQPGMVSGGMGSGQPL
  PMAWQQLVLQEQSPGSQASLATMPEAPDVLEETVTVEEDPGTPTSHVSIVTSEDGTTRRT
  ETKVTKTVKTVTTRTVRQVPVGPDGLPLLDGGPPLGPFADGALDRHFLLRGGGPVATLSR
  AYLSSGGGFPEGPEPRDSPSYGSLSRGLGMRPPRAGPLGPGPGDGCFTLPGHREAFPVGP
  EPGPPGGRSLPERFQAEPYGLEDDTRSLAADDEGGPELEPDYGTATRRRPECGRGLHTRA
  YEDTADDGGELADERPAFPMVTAPLAQPERGSMGSLDRLVRRSPSVDSARKEPRWRDPEL
  PEVLAMLRHPVDPVKANAAAYLQHLCFENEGVKRRVRQLRGLPLLVALLDHPRAEVRRRA
  CGALRNLSYGRDTDNKAAIRDCGGVPALVRLLRAARDNEVRELVTGTLWNLSSYEPLKMV
  IIDHGLQTLTHEVIVPHSGWEREPNEDSKPRDAEWTTVFKNTSGCLRNVSSDGAEARRRL
  RECEGLVDALLHALQSAVGRKDTDNKSVENCVCIMRNLSYHVHKEVPGADRYQEAEPGPL
  GSAVGSQRRRRDDASCFGGKKAKEEWFHQGKKDGEMDRNFDTLDLPKRTEAAKGFELLYQ
  PEVVRLYLSLLTESRNFNTLEAAAGALQNLSAGNWMWATYIRATVRKERGLPVLVELLQS
  ETDKVVRAVAIALRNLSLDRRNKDLIGSYAMAELVRNVRNAQAPPRPGACLEEDTVVAVL
  NTIHEIVSDSLDNARSLLQARGVPALVALVASSQSVREAKAASHVLQTVWSYKELRGTLQ
  KDGWTKARFQSAAATAKGPKGALSPGGFDDSTLPLVDKSLEGEKTGSRDVIPMDALGPDG
  YSTVDRRERRPRGASSAGEASEKEPLKLDPSRKAPPPGPSRPAVRLVDAVGDAKPQPVDS
  WV

• Sequence length: 962

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Gastric cancer	Benign	rs887204	RCV005915357
Hepatocellular carcinoma	Benign	rs887204	RCV005915356
Long QT syndrome	Likely benign	rs763923625	RCV000190142
Lung cancer	Benign	rs887204	RCV005915358
Microcephaly	Uncertain significance	rs763980870	RCV001252924
Ovarian serous cystadenocarcinoma	Uncertain significance	rs1942919466	RCV005908945
See cases	Uncertain significance	rs1942919466	RCV001197090

Associations from Text Mining
Disease Name	Relationship Type	References
Diabetes Mellitus Type 2	Associate	38014529
Hallucinations	Associate	32710539
Neoplasms	Associate	24644279
Neurologic Manifestations	Associate	24644279
Pain	Associate	24343288
Prostatic Neoplasms	Associate	21846818
Stomach Neoplasms	Associate	19015200