ARL14EP (ARF like GTPase 14 effector protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 120534
Gene name ARF like GTPase 14 effector protein
Gene symbol ARL14EP
Synonyms (NCBI Gene)
ARF7EPC11orf46dJ299F11.1
Chromosome 11
Chromosome location 11p14.1
Summary 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.
1
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.
32
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
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, 33961781, 35271311
GO:0005654 Component Nucleoplasm IDA
GO:0005730 Component Nucleolus 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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612295 26798 ENSG00000152219
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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 Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal facial shape Likely pathogenic rs730882201 RCV000162105
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Likely pathogenic rs730882201 RCV000162105
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly Likely pathogenic rs730882201 RCV000162105
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Truncal obesity Likely pathogenic rs730882201 RCV000162105
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (10)
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.
Phenotype Name Clinical Significance Source Evidence Score
Familial cancer of breast Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Depressive Disorder Major depressive disorder Pubtator 37544299 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis Pubtator 37544299 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay CLINVAR_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoplasia of corpus callosum Hypoplasia Of Corpus Callosum BEFREE 31511512
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation CTD_human_DG 21937992
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Intellectual Disability Mental retardation BEFREE 31511512
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leiomyoma Leiomyoma Pubtator 37544299 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Mental deficiency Mental retardation CTD_human_DG 21937992
★★★★★
★☆☆☆☆
Found in Text Mining only
Polycystic Ovary Syndrome Polycystic ovary syndrome Pubtator 37223019 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Profound Mental Retardation Mental retardation CTD_human_DG 21937992
★★★★★
★☆☆☆☆
Found in Text Mining only