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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57221
Gene name	ARFGEF family member 3
Gene symbol	ARFGEF3
Synonyms (NCBI Gene)	A7322BIG3C6orf92KIAA1244PPP1R33dJ171N11.1
Chromosome	6
Chromosome location	6q23.3-q24.1

Show/Hide all (69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT656957	hsa-miR-4255	HITS-CLIP	23824327
MIRT641634	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT641633	hsa-miR-4287	HITS-CLIP	23824327
MIRT641632	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT641631	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT641627	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT641626	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT641625	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT641624	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT641623	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT641622	hsa-miR-4279	HITS-CLIP	23824327
MIRT641620	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT641634	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT641633	hsa-miR-4287	HITS-CLIP	23824327
MIRT641632	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT641631	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT641630	hsa-miR-2116-5p	HITS-CLIP	23824327
MIRT641629	hsa-miR-22-5p	HITS-CLIP	23824327
MIRT641628	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT641627	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT641626	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT641625	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT641624	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT641623	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT641622	hsa-miR-4279	HITS-CLIP	23824327
MIRT641621	hsa-miR-4677-5p	HITS-CLIP	23824327
MIRT641620	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT641619	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT641618	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT447866	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447865	hsa-miR-6867-5p	PAR-CLIP	22100165
MIRT447866	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447865	hsa-miR-6867-5p	PAR-CLIP	22100165
MIRT741939	hsa-miR-4279	PAR-CLIP	27292025
MIRT741939	hsa-miR-4279	PAR-CLIP	27292025
MIRT741939	hsa-miR-4279	PAR-CLIP	27292025
MIRT741929	hsa-miR-4255	HITS-CLIP	23824327
MIRT741930	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT741931	hsa-miR-4287	HITS-CLIP	23824327
MIRT741932	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT741933	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741934	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT741935	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT741936	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT741937	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT741938	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT741939	hsa-miR-4279	HITS-CLIP	23824327
MIRT741940	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741930	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT741931	hsa-miR-4287	HITS-CLIP	23824327
MIRT741932	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT741933	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT742238	hsa-miR-2116-5p	HITS-CLIP	23824327
MIRT742239	hsa-miR-22-5p	HITS-CLIP	23824327
MIRT742240	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT741934	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT741935	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT741936	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT741937	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT741938	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT741939	hsa-miR-4279	HITS-CLIP	23824327
MIRT742241	hsa-miR-4677-5p	HITS-CLIP	23824327
MIRT741940	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT742242	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT742243	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT755215	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT755216	hsa-miR-6867-5p	PAR-CLIP	22100165
MIRT755215	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT755216	hsa-miR-6867-5p	PAR-CLIP	22100165

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0016020	Component	Membrane	IEA
GO:0030133	Component	Transport vesicle	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032012	Process	Regulation of ARF protein signal transduction	IEA

MIM	HGNC	e!Ensembl
617411	21213	ENSG00000112379

Q5TH69

Protein name

Brefeldin A-inhibited guanine nucleotide-exchange protein 3 (ARFGEF family member 3)

Protein function

Participates in the regulation of systemic glucose homeostasis, where it negatively regulates insulin granule biogenesis in pancreatic islet beta cells (By similarity). Also regulates glucagon granule production in pancreatic alpha cells (By sim

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16213	DCB	1 → 171	Dimerisation and cyclophilin-binding domain of Mon2	Family
PF09324	DUF1981	1242 → 1316	Domain of unknown function (DUF1981)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in breast cancer cell lines. Not expressed in normal tissues such as duct, mammary gland, lung, heart, liver, kidnay, bone marrow. {ECO:0000269|PubMed:19496786}.

Sequence

MEEILRKLQKEASGSKYKAIKESCTWALETLGGLDTIVKIPPHVLREKCLLPLQLALESK
NVKLAQHALAGMQKLLSEERFVSMETDSDEKQLLNQILNAVKVTPSLNEDLQVEVMKVLL
CITYTPTFDLNGSAVLKIAEVCIETYISSCHQRSINTAVRATLSQMLSDLTLQLRQRQEN
TIIENPDVPQDFGNQGSTVESLCDDVVSVLTVLCEKLQAAINDSQQLQLLYLECILSVLS
SSSSSMHLHRRFTDLIWKNLCPALIVILGNPIHDKTITSAHTSSTSTSLESDSASPGVSD
HGRGSGCSCTAPALSGPVARTIYYIAAELVRLVGSVDSMKPVLQSLYHRVLLYPPPQHRV
EAIKIMKEILGSPQRLCDLAGPSSTESESRKRSISKRKSHLDLLKLIMDGMTEACIKGGI
EACYAAVSCVCTLLGALDELSQGKGLSEGQVQLLLLRLEELKDGAEWSRDSMEINEADFR
WQRRVLSSEHTPWESGNERSLDISISVTTDTGQTTLEGELGQTTPEDHSGNHKNSLKSPA
IPEGKETLSKVLETEAVDQPDVVQRSHTVPYPDITNFLSVDCRTRSYGSRYSESNFSVDD
QDLSRTEFDSCDQYSMAAEKDSGRSDVSDIGSDNCSLADEEQTPRDCLGHRSLRTAALSL
KLLKNQEADQHSARLFIQSLEGLLPRLLSLSNVEEVDTALQNFASTFCSGMMHSPGFDGN
SSLSFQMLMNADSLYTAAHCALLLNLKLSHGDYYRKRPTLAPGVMKDFMKQVQTSGVLMV
FSQAWIEELYHQVLDRNMLGEAGYWGSPEDNSLPLITMLTDIDGLESSAIGGQLMASAAT
ESPFAQSRRIDDSTVAGVAFARYILVGCWKNLIDTLSTPLTGRMAGSSKGLAFILGAEGI
KEQNQKERDAICMSLDGLRKAARLSCALGVAANCASALAQMAAASCVQEEKEEREAQEPS
DAITQVKLKVEQKLEQIGKVQGVWLHTAHVLCMEAILSVGLEMGSHNPDCWPHVFRVCEY
VGTLEHNHFSDGASQPPLTISQPQKATGSAGLLGDPECEGSPPEHSPEQGRSLSTAPVVQ
PLSIQDLVREGSRGRASDFRGGSLMSGSSAAKVVLTLSTQADRLFEDATDKLNLMALGGF
LYQLKKASQSQLFHSVTDTVDYSLAMPGEVKSTQDRKSALHLFRLGNAMLRIVRSKARPL
LHVMRCWSLVAPHLVEAACHKERHVSQKAVSFIHDILTEVLTDWNEPPHFHFNEALFRPF
ERIMQLELCDEDVQDQVVTSIGELVEVCSTQIQSGWRPLFSALETVHGGNKSEMKEYLVG
DYSMGKGQAPVFDVFEAFLNTDNIQVFANAATSYIMCLMKFVKGLGEVDCKEIGDCAPAP
GAPSTDLCLPALDYLRRCSQLLAKIYKMPLKPIFLSGRLAGLPRRLQEQSASSEDGIESV
LSDFDDDTGLIEVWIILLEQLTAAVSNCPRQHQPPTLDLLFELLRDVTKTPGPGFGIYAV
VHLLLPVMSVWLRRSHKDHSYWDMASANFKHAIGLSCELVVEHIQSFLHSDIRYESMINT
MLKDLFELLVACVAKPTETISRVGCSCIRYVLVTAGPVFTEEMWRLACCALQDAFSATLK
PVKDLLGCFHSGTESFSGEGCQVRVAAPSSSPSAEAEYWRIRAMAQQVFMLDTQCSPKTP
NNFDHAQSCQLIIELPPDEKPNGHTKKSVSFREIVVSLLSHQVLLQNLYDILLEEFVKGP
SPGEEKTIQVPEAKLAGFLRYISMQNLAVIFDLLLDSYRTAREFDTSPGLKCLLKKVSGI
GGAANLYRQSAMSFNIYFHALVCAVLTNQETITAEQVKKVLFEDDERSTDSSQQCSSEDE
DIFEETAQVSPPRGKEKRQWRARMPLLSVQPVSNADWVWLVKRLHKLCMELCNNYIQMHL
DLENCMEEPPIFKGDPFFILPSFQSESSTPSTGGFSGKETPSEDDRSQSREHMGESLSLK
AGGGDLLLPPSPKVEKKDPSRKKEWWENAGNKIYTMAADKTISKLMTEYKKRKQQHNLSA
FPKEVKVEKKGEPLGPRGQDSPLLQRPQHLMDQGQMRHSFSAGPELLRQDKRPRSGSTGS
SLSVSVRDAEAQIQAWTNMVLTVLNQIQILPDQTFTALQPAVFPCISQLTCHVTDIRVRQ
AVREWLGRVGRVYDIIV

Sequence length

2177

Interactions

View interactions

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)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARFGEF3-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonic disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile seizure (within the age range of 3 months to 6 years)	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	19496786, 28500289, 28929359, 31421830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19496786, 24997568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30550403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30550403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30550403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	30236115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30236115	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19496786, 28500289, 31421830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30550403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30236115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31235759, 31421830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31235759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30236115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30236115	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

ARFGEF3 (ARFGEF family member 3)