AP3B2 (adaptor related protein complex 3 subunit beta 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8120
Gene name Gene Name - the full gene name approved by the HGNC.
Adaptor related protein complex 3 subunit beta 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AP3B2
Synonyms (NCBI Gene) Gene synonyms aliases
DEE48, EIEE48, NAPTB
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.2
Summary Summary of gene provided in NCBI Entrez Gene.
Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first ide
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs756540347 C>T Conflicting-interpretations-of-pathogenicity Intron variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(116)
miRTarBase ID miRNA Experiments Reference
MIRT683444 hsa-miR-4438 HITS-CLIP 23313552
MIRT683443 hsa-miR-4293 HITS-CLIP 23313552
MIRT683442 hsa-miR-500b-3p HITS-CLIP 23313552
MIRT683441 hsa-miR-6849-3p HITS-CLIP 23313552
MIRT683440 hsa-miR-5095 HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0005769 Component Early endosome NAS 23247405
GO:0005794 Component Golgi apparatus IEA
GO:0006886 Process Intracellular protein transport IEA
GO:0008089 Process Anterograde axonal transport IEA
GO:0008089 Process Anterograde axonal transport ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602166 567 ENSG00000103723
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q13367
Protein name AP-3 complex subunit beta-2 (Adaptor protein complex AP-3 subunit beta-2) (Adaptor-related protein complex 3 subunit beta-2) (Beta-3B-adaptin) (Clathrin assembly protein complex 3 beta-2 large chain) (Neuron-specific vesicle coat protein beta-NAP)
Protein function Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to mem
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01602 Adaptin_N 34 → 590 Adaptin N terminal region Family
PF14796 AP3B1_C 802 → 947 Clathrin-adaptor complex-3 beta-1 subunit C-terminal Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 expression is specific to nervous system. Expressed in nerve terminal and cell body, and is associated with nerve-terminal vesicles. Expression seen in Purkinje cells, cortical neurons, neuroectodermal tumors and graded in ce
Sequence 
MSAAPAYSEDKGGSAGPGEPEYGHDPASGGIFSSDYKRHDDLKEMLDTNKDSLKLEAMKR
IVAMIARGKNASDLFPAVVKNVACKNIEVKKLVYVYLVRYAEEQQDLALLSISTFQRGLK
DPNQLIRASALRVLSSIRVPIIVPIMMLAIKEAASDMSPYVRKTAAHAIPKLYSLDSDQK
DQLIEVIEKLLADKTTLVAGSVVMAFEEVCPERIDLIHKNYRKLCNLLIDVEEWGQVVII
SMLTRYARTQFLSPTQNESLLEENAEKAFYGSEEDEAKGAGSEETAAAAAPSRKPYVMDP
DHRLLLRNTKPLLQSRSAAVVMAVAQLYFHLAPKAEVGVIAKALVRLLRSHSEVQYVVLQ
NVATMSIKRRGMFEPYLKSFYIRSTDPTQIKILKLEVLTNLANETNIPTVLREFQTYIRS
MDKDFVAATIQAIGRCATNIGRVRDTCLNGLVQLLSNRDELVVAESVVVIKKLLQMQPAQ
HGEIIKHLAKLTDNIQVPMARASILWLIGEYCEHVPRIAPDVLRKMAKSFTAEEDIVKLQ
VINLAAKLYLTNSKQTKLLTQYVLSLAKYDQNYDIRDRARFTRQLIVPSEQGGALSRHAK
KLFLAPKPAPVLESSFKDRDHFQLGSLSHLLNAKATGYQELPDWPEEAPDPSVRNVEVPE
WTKCSNREKRKEKEKPFYSDSEGESGPTESADSDPESESESDSKSSSESGSGESSSESDN
EDQDEDEEKGRGSESEQSEEDGKRKTKKKVPERKGEASSSDEGSDSSSSSSESEMTSESE
EEQLEPASWSRKTPPSSKSAPATKEISLLDLEDFTPPSVQPVSPPAIVSTSLAADLEGLT
LTDSTLVPSLLSPVSGVGRQELLHRVAGEGLAVDYTFSRQPFSGDPHMVSVHIHFSNSSD
TPIKGLHVGTPKLPAGISIQEFPEIESLAPGESATAVMGINFCDSTQAANFQLCTQTRQF
YVSIQPPVGELMAPVFMSENEFKKEQGKLMGMNEITEKLMLPDTCRSDHIVVQKVTATAN
LGRVPCGTSDEYRFAGRTLTGGSLVLLTLDARPAGAAQLTVNSEKMVIGTMLVKDVIQAL
TQ
Sequence length 1082
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Lysosome  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 48 rs1481189891, rs1596183293, rs1057519269, rs1057519270, rs1057519271, rs775024756, rs1057519272 N/A
Epileptic encephalopathy epileptic encephalopathy rs1057519269, rs1057519270 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation intellectual disability N/A N/A ClinVar
Microcephaly microcephaly N/A N/A ClinVar
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 27889060
Chronic Periodontitis Associate 25056994, 26643602, 36360171
Cognition Disorders Associate 20921022
Epileptic Encephalopathy Early Infantile 3 Associate 27889060
Hirschsprung Disease Associate 29093530
Language Development Disorders Associate 27889060
Optic Atrophy Associate 27889060