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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
22Q11.2 DELETION SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGEORGE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RAYNAUD DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA AND RELATED DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
22q11 Deletion Syndrome	22q11 deletion syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
22q11 partial monosomy syndrome	22q11 partial monosomy syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
22q11.2 deletion syndrome	22q11.2 deletion syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	LHGDN	16118784		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	16118784		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asymmetric crying face association	Asymmetric crying face association	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL ANOMALY FACE SYNDROME	Conotruncal Anomaly Face Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	38014529	Associate	★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21846818		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Occipital myelomeningocele	Myelomeningocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Platybasia	Platybasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21846818		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21846818	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15861775, 19508883, 20333729, 22053977, 24819575, 31455759		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	15861775, 19508883, 20333729, 22053977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia and related disorders	Schizophrenia	BEFREE	20333729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia and related disorders	Schizophrenia	PSYGENET_DG	20333729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seborrheic dermatitis	Seborrheic dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19015200	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only