Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	421
Gene name Gene Name - the full gene name approved by the HGNC.	ARVCF delta catenin family member
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ARVCF
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(46)

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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19706687, 25009281
GO:0005622	Component	Intracellular anatomical structure	TAS	9126485
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0007043	Process	Cell-cell junction assembly	IBA	21873635
GO:0007155	Process	Cell adhesion	TAS	9126485
GO:0007275	Process	Multicellular organism development	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0045296	Function	Cadherin binding	IBA	21873635
GO:0098609	Process	Cell-cell adhesion	IBA	21873635

MIM	HGNC	e!Ensembl
602269	728	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

Interactions

View interactions

Show/Hide Causal Diseases (31)

Disease term	Disease name	dbSNP ID	References
Causal
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039 View all (65 more)	26830138
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Conotruncal anomaly face syndrome	CONOTRUNCAL ANOMALY FACE SYNDROME	rs28939675, rs1601294362
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Digeorge syndrome	DiGeorge Syndrome	rs587776825, rs1555895466
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hyperthyroidism	Hyperthyroidism	rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167
Hypoparathyroidism	Hypoparathyroidism	rs104893959, rs104894271, rs2134093224, rs104894272, rs6256, rs193922430, rs886037646, rs1554103179
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Persistent truncus arteriosus	Truncus Arteriosus, Persistent	rs267606914, rs1598737972, rs387906813
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096 View all (740 more)
Schizophrenia	Schizophrenia, Schizophrenia and related disorders	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	20333729, 19508883, 15861775, 22053977
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Show/Hide Unknown Diseases (12)

Disease term	Disease name	References	Source
Unknown
22q11.2 deletion syndrome	22q11.2 deletion syndrome		ClinVar
Asthma	Asthma		ClinVar
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		ClinVar
Major affective disorder	MAJOR AFFECTIVE DISORDER 2, MAJOR AFFECTIVE DISORDER 1, MAJOR AFFECTIVE DISORDER 4, MAJOR AFFECTIVE DISORDER 6, MAJOR AFFECTIVE DISORDER 7, MAJOR AFFECTIVE DISORDER 8, MAJOR AFFECTIVE DISORDER 9		ClinVar
Mental depression	Depressive disorder		ClinVar
Myocardial infarction	Myocardial Infarction	21211798	ClinVar
Otitis media	Chronic otitis media		ClinVar
Ptosis	Blepharoptosis, Ptosis		ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney		ClinVar
Specific learning disorder	Specific learning disability		ClinVar
Diabetes	Diabetes		GWAS
Coronary artery disease	Coronary artery disease		GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
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

ARVCF (ARVCF delta catenin family member)