AP3B2 (adaptor related protein complex 3 subunit beta 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8120
Gene name Adaptor related protein complex 3 subunit beta 2
Gene symbol AP3B2
Synonyms (NCBI Gene)
DEE48EIEE48NAPTB
Chromosome 15
Chromosome location 15q25.2
Summary 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.
1
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.
116
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602166 567 ENSG00000103723
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
90
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy, 48 Pathogenic; Likely pathogenic rs1215589381, rs1369308468, rs2151441655, rs2151428040, rs2548699221, rs2047958031, rs1262859688, rs2548711951, rs1057519269, rs1057519270, rs1057519271, rs775024756, rs1057519272, rs1481189891, rs1596183293
View all (2 more)		 RCV001333281
RCV001678595
RCV001785950
RCV005361872
RCV003152804
RCV003132032
RCV003132975
RCV003324120
RCV000415544
RCV000415589
RCV000415561
RCV000415580
RCV000415523
RCV000984513
RCV000989366
RCV004799483
RCV001376173
Epileptic encephalopathy Likely pathogenic rs1057519269, rs1057519270 RCV000824906
RCV000824907
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AP3B2-related disorder Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs992337429, rs200226421, rs752677808, rs777749271, rs377122592, rs773263641, rs375416338, rs376398184, rs201123361, rs374398150, rs34585442, rs201548330, rs933466198, rs747912746, rs2548711776
View all (12 more)		 RCV004757485
RCV003933465
RCV003933418
RCV003978615
RCV003903481
RCV003923712
RCV003951334
RCV003951227
RCV003968750
RCV003933646
RCV003950901
RCV003936605
RCV003898586
RCV003984287
RCV003901855
RCV003941881
RCV003934507
RCV004757238
RCV003938147
RCV003903313
RCV003926110
RCV003975536
RCV003958154
RCV003903037
RCV003970370
RCV004757347
RCV003916203
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs377729111 RCV005911120
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs34585442 RCV004558824
Familial cancer of breast Likely benign rs376398184 RCV005926087
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease 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