ARL14EP (ARF like GTPase 14 effector protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
120534
Gene name Gene Name - the full gene name approved by the HGNC.
ARF like GTPase 14 effector protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARL14EP
Synonyms (NCBI Gene) Gene synonyms aliases
ARF7EP, C11orf46, dJ299F11.1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p14.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase;
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs730882201 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(32)
miRTarBase ID miRNA Experiments Reference
MIRT021555 hsa-miR-142-3p Microarray 17612493
MIRT021828 hsa-miR-132-3p Microarray 17612493
MIRT460352 hsa-miR-6888-5p PAR-CLIP 23592263
MIRT460351 hsa-miR-4768-3p PAR-CLIP 23592263
MIRT460350 hsa-miR-665 PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21458045, 25416956, 28514442, 31515488, 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005730 Component Nucleolus IDA
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612295 26798 ENSG00000152219
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N8R7
Protein name ARL14 effector protein (ARF7 effector protein)
Protein function Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells. {ECO:0000269|PubMed:21
PDB 8HFP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14949 ARF7EP_C 146 → 249 ARF7 effector protein C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the immune system. {ECO:0000269|PubMed:21458045}.
Sequence 
MMDPCSVGVQLRTTNECHKTYYTRHTGFKTLQELSSNDMLLLQLRTGMTLSGNNTICFHH
VKIYIDRFEDLQKSCCDPFNIHKKLAKKNLHVIDLDDATFLSAKFGRQLVPGWKLCPKCT
QIINGSVDVDTEDRQKRKPESDGRTAKALRSLQFTNPGRQTEFAPETGKREKRRLTKNAT
AGSDRQVIPAKSKVYDSQGLLIFSGMDLCDCLDEDCLGCFYACPACGSTKCGAECRCDRK
WLYEQIEIEGGEIIHNKHAG
Sequence length 260
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Profound Mental Retardation, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)		 21937992
Show/Hide Unknown Diseases (9)
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Polycystic Ovary Syndrome Polycystic Ovary Syndrome GWAS
Uterine Fibroids Uterine Fibroids GWAS
Schizophrenia Schizophrenia GWAS
Show/Hide Text Mining Associations (9)
Associations from Text Mining
Disease Name Relationship Type References
Depressive Disorder Associate 37544299
Endometriosis Associate 37544299
Leiomyoma Associate 37544299
Lens Diseases Associate 36011342
Menopause Premature Associate 37544299
Menorrhagia Associate 37544299
Perinatal Death Associate 37544299
Polycystic Ovary Syndrome Associate 37223019
Reproductive Tract Infections Associate 37544299