Gene Gene information from NCBI Gene database.
Entrez ID 440073
Gene name IQ motif and Sec7 domain ArfGEF 3
Gene symbol IQSEC3
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12p13.33
miRNA miRNA information provided by mirtarbase database.
211
miRTarBase ID miRNA Experiments Reference
MIRT629248 hsa-miR-548ad-3p HITS-CLIP 23824327
MIRT629247 hsa-miR-8485 HITS-CLIP 23824327
MIRT573507 hsa-miR-8080 PAR-CLIP 20371350
MIRT573506 hsa-miR-4779 PAR-CLIP 20371350
MIRT573505 hsa-miR-4716-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612118 29193 ENSG00000120645
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UPP2
Protein name IQ motif and SEC7 domain-containing protein 3
Protein function Acts as a guanine nucleotide exchange factor (GEF) for ARF1.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01369 Sec7 651 839 Sec7 domain Domain
PF16453 IQ_SEC7_PH 859 996 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed specifically in the adult brain, predominantly in the cerebral cortex and the olfactory bulb, but not in the fetal brain. Expressed only in mature neurons, but not in undifferentiated neural stem precursor cells (NSPCs), nor
Sequence
MESLLENPVRAVLYLKELTAIVQNQQSLIHTQRERIDELERRLDELSAENRSLWEHQQLL
QAQPPPGLVPPSSAPLPAAPATAPAAAARAQEPLQDQGQRSAAAPHPAPDRPPRQHHGQL
LEQPQRGPGSRAHTPQSPHKHLGTQGAVTDKEKERPPSCCAAAGALLQHKSPSALGKGVL
SRRPENETVLHQFCCPAADACSDLASQSDGSCTQAGGGMEDSVVAAAAVAAGRPSAHAPK
AQAQELQEEEERPGAGAASPRAGPQHKASPGRQQPALATALCPHAPAASDYELSLDLKNK
QIEMLEHKYGGHLVSRRAACTIQTAFRQYQLSKNFEKIRNSLLESRLPRRISLRKVRSPT
AESLAAEKALMEGYGLVGLPLVRSPSLPPTFAGTLTELEDSFTEQVQSLAKSIDDALSTW
SLKTMCSLRESGAYQLHQALQAAAGPPGLEAEGRAPESAGPGPGDDAAETPGLPPAHSGT
LMMAFRDVTVQIANQNISVSSSTALSVANCLGAQTVQAPAEPAAGKAEQGETSGREAPEA
PAVGREDASAEDSCAEAAASGAADGATAPKTEEEEEEEETAEVGRGAEAEAGDLEQLSSS
STSTKSAKSGSEASASASKDALQAMILSLPRYHCENPASCKSPTLSTDTLRKRLYRIGLN
LFNINPDKGIQFLISRGFIPDTPIGVAHFLLQRKGLSRQMIGEFLGNSKKQFNRDVLDCV
VDEMDFSSMELDEALRKFQAHIRVQGEAQKVERLIEAFSQRYCMCNPEVVQQFHNPDTIF
ILAFAIILLNTDMYSPNIKPDRKMMLEDFIRNLRGVDDGADIPRELVVGIYERIQQKEL
K
SNEDHVTYVTKVEKSIVGMKTVLSVPHRRLVCCSRLFEVTDVNKLQKQAAHQREVFLFND
LLVILKLCPKKKSSSTYTFCKSVGLLGMQFQLFENEYYSHGITLVTPLSGSEKKQVLHFC
ALGSDEMQKFVEDLKESIAEVTELEQIRIEWELEKQ
QGTKTLSFKPCGAQGDPQSKQGSP
TAKREAALRERPAESTVEVSIHNRLQTSQHNSGLGAERGAPVPPPDLQPSPPRQQTPPLP
PPPPTPPGTLVQCQQIVKVIVLDKPCLARMEPLLSQALSCYTSSSSDSCGSTPLGGPGSP
VKVTHQPPLPPPPPPYNHPHQFCPPGSLLHGHRYSSGSRSLV
Sequence length 1182
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Endocytosis  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arthrogryposis multiplex congenita Uncertain significance rs1448451909, rs189467547 RCV000855507
RCV000855508
Fetal akinesia deformation sequence 1 Uncertain significance rs1448451909, rs189467547 RCV000855507
RCV000855508
IQSEC3-related disorder Conflicting classifications of pathogenicity; Likely benign; Uncertain significance rs200670002, rs145014866, rs139400594, rs782257201 RCV003929039
RCV003933918
RCV003931445
RCV003964330
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Inhibit 27219343
Breast Neoplasms Associate 33170908
Fetal akinesia syndrome X linked Associate 31680123
Glioma Stimulate 35676651
Mental Disorders Associate 27219343
Neuromuscular Diseases Associate 31680123