Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
440073
Gene name Gene Name - the full gene name approved by the HGNC.
IQ motif and Sec7 domain ArfGEF 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IQSEC3
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.33
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IDA
GO:0014069 Component Postsynaptic density ISS
GO:0030036 Process Actin cytoskeleton organization IBA 21873635
GO:0032012 Process Regulation of ARF protein signal transduction IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612118 29193 ENSG00000120645
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
31130284
Unknown
Disease term Disease name Evidence References Source
Insomnia Insomnia GWAS
Associations from Text Mining
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