Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs756540347	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant

116

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
MIRT683439	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT683438	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT683437	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT498657	hsa-miR-5693	PAR-CLIP	20371350
MIRT498656	hsa-miR-3135b	PAR-CLIP	20371350
MIRT498655	hsa-miR-3652	PAR-CLIP	20371350
MIRT498654	hsa-miR-4430	PAR-CLIP	20371350
MIRT498651	hsa-miR-513a-5p	PAR-CLIP	20371350
MIRT498650	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT498649	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT498657	hsa-miR-5693	PAR-CLIP	20371350
MIRT498656	hsa-miR-3135b	PAR-CLIP	20371350
MIRT498655	hsa-miR-3652	PAR-CLIP	20371350
MIRT498654	hsa-miR-4430	PAR-CLIP	20371350
MIRT498653	hsa-miR-6501-5p	PAR-CLIP	20371350
MIRT498652	hsa-miR-4423-5p	PAR-CLIP	20371350
MIRT498651	hsa-miR-513a-5p	PAR-CLIP	20371350
MIRT498650	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT498649	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT498648	hsa-miR-744-3p	PAR-CLIP	20371350
MIRT498659	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT498657	hsa-miR-5693	PAR-CLIP	23446348
MIRT514662	hsa-miR-454-5p	PAR-CLIP	23446348
MIRT498656	hsa-miR-3135b	PAR-CLIP	23446348
MIRT498655	hsa-miR-3652	PAR-CLIP	23446348
MIRT498654	hsa-miR-4430	PAR-CLIP	23446348
MIRT498653	hsa-miR-6501-5p	PAR-CLIP	23446348
MIRT498652	hsa-miR-4423-5p	PAR-CLIP	23446348
MIRT498651	hsa-miR-513a-5p	PAR-CLIP	23446348
MIRT498650	hsa-miR-27a-3p	PAR-CLIP	23446348
MIRT498649	hsa-miR-27b-3p	PAR-CLIP	23446348
MIRT514661	hsa-miR-6883-3p	PAR-CLIP	23446348
MIRT498648	hsa-miR-744-3p	PAR-CLIP	23446348
MIRT498657	hsa-miR-5693	PAR-CLIP	23446348
MIRT498656	hsa-miR-3135b	PAR-CLIP	23446348
MIRT498655	hsa-miR-3652	PAR-CLIP	23446348
MIRT498654	hsa-miR-4430	PAR-CLIP	23446348
MIRT498651	hsa-miR-513a-5p	PAR-CLIP	23446348
MIRT498650	hsa-miR-27a-3p	PAR-CLIP	23446348
MIRT498649	hsa-miR-27b-3p	PAR-CLIP	23446348
MIRT498660	hsa-miR-552-3p	PAR-CLIP	24398324
MIRT498659	hsa-miR-4781-3p	PAR-CLIP	24398324
MIRT498658	hsa-miR-764	PAR-CLIP	24398324
MIRT498657	hsa-miR-5693	PAR-CLIP	24398324
MIRT498656	hsa-miR-3135b	PAR-CLIP	24398324
MIRT498655	hsa-miR-3652	PAR-CLIP	24398324
MIRT498654	hsa-miR-4430	PAR-CLIP	24398324
MIRT498653	hsa-miR-6501-5p	PAR-CLIP	24398324
MIRT498652	hsa-miR-4423-5p	PAR-CLIP	24398324
MIRT498651	hsa-miR-513a-5p	PAR-CLIP	24398324
MIRT498650	hsa-miR-27a-3p	PAR-CLIP	24398324
MIRT498649	hsa-miR-27b-3p	PAR-CLIP	24398324
MIRT498648	hsa-miR-744-3p	PAR-CLIP	24398324
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
MIRT683439	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT683438	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT683437	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT498657	hsa-miR-5693	PAR-CLIP	20371350
MIRT498656	hsa-miR-3135b	PAR-CLIP	20371350
MIRT498655	hsa-miR-3652	PAR-CLIP	20371350
MIRT498654	hsa-miR-4430	PAR-CLIP	20371350
MIRT498651	hsa-miR-513a-5p	PAR-CLIP	20371350
MIRT498650	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT498649	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT498657	hsa-miR-5693	PAR-CLIP	20371350
MIRT498656	hsa-miR-3135b	PAR-CLIP	20371350
MIRT498655	hsa-miR-3652	PAR-CLIP	20371350
MIRT498654	hsa-miR-4430	PAR-CLIP	20371350
MIRT498653	hsa-miR-6501-5p	PAR-CLIP	20371350
MIRT498652	hsa-miR-4423-5p	PAR-CLIP	20371350
MIRT498651	hsa-miR-513a-5p	PAR-CLIP	20371350
MIRT498650	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT498649	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT498648	hsa-miR-744-3p	PAR-CLIP	20371350
MIRT498659	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT498657	hsa-miR-5693	PAR-CLIP	23446348
MIRT514662	hsa-miR-454-5p	PAR-CLIP	23446348
MIRT498656	hsa-miR-3135b	PAR-CLIP	23446348
MIRT498655	hsa-miR-3652	PAR-CLIP	23446348
MIRT498654	hsa-miR-4430	PAR-CLIP	23446348
MIRT498653	hsa-miR-6501-5p	PAR-CLIP	23446348
MIRT498652	hsa-miR-4423-5p	PAR-CLIP	23446348
MIRT498651	hsa-miR-513a-5p	PAR-CLIP	23446348
MIRT498650	hsa-miR-27a-3p	PAR-CLIP	23446348
MIRT498649	hsa-miR-27b-3p	PAR-CLIP	23446348
MIRT514661	hsa-miR-6883-3p	PAR-CLIP	23446348
MIRT498648	hsa-miR-744-3p	PAR-CLIP	23446348
MIRT498657	hsa-miR-5693	PAR-CLIP	23446348
MIRT498656	hsa-miR-3135b	PAR-CLIP	23446348
MIRT498655	hsa-miR-3652	PAR-CLIP	23446348
MIRT498654	hsa-miR-4430	PAR-CLIP	23446348
MIRT498651	hsa-miR-513a-5p	PAR-CLIP	23446348
MIRT498650	hsa-miR-27a-3p	PAR-CLIP	23446348
MIRT498649	hsa-miR-27b-3p	PAR-CLIP	23446348
MIRT498660	hsa-miR-552-3p	PAR-CLIP	24398324
MIRT498659	hsa-miR-4781-3p	PAR-CLIP	24398324
MIRT498658	hsa-miR-764	PAR-CLIP	24398324
MIRT498657	hsa-miR-5693	PAR-CLIP	24398324
MIRT498656	hsa-miR-3135b	PAR-CLIP	24398324
MIRT498655	hsa-miR-3652	PAR-CLIP	24398324
MIRT498654	hsa-miR-4430	PAR-CLIP	24398324
MIRT498653	hsa-miR-6501-5p	PAR-CLIP	24398324
MIRT498652	hsa-miR-4423-5p	PAR-CLIP	24398324
MIRT498651	hsa-miR-513a-5p	PAR-CLIP	24398324
MIRT498650	hsa-miR-27a-3p	PAR-CLIP	24398324
MIRT498649	hsa-miR-27b-3p	PAR-CLIP	24398324
MIRT498648	hsa-miR-744-3p	PAR-CLIP	24398324

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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
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016183	Process	Synaptic vesicle coating	NAS	15537701
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030117	Component	Membrane coat	IEA
GO:0030123	Component	AP-3 adaptor complex	IEA
GO:0030123	Component	AP-3 adaptor complex	NAS	9151686
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035654	Process	Clathrin-coated vesicle cargo loading, AP-3-mediated	NAS	9545220
GO:0036465	Process	Synaptic vesicle recycling	NAS	15537701
GO:0048488	Process	Synaptic vesicle endocytosis	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	IBA
GO:0048490	Process	Anterograde synaptic vesicle transport	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	ISS
GO:0097708	Component	Intracellular vesicle	IEA
GO:0097708	Component	Intracellular vesicle	TAS	7671305
GO:0098793	Component	Presynapse	IEA
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
602166	567	ENSG00000103723

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

	KEGG
	Lysosome

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 48	Pathogenic; Likely pathogenic	rs1215589381, rs1369308468, rs2151441655, rs2151428040, rs2548699221, rs2047958031, rs1262859688, rs2548711951, rs1057519269, rs1057519270, rs1057519271, rs775024756, rs1057519272, rs1481189891, rs1596183293, rs1304104449, rs1347618037 View all (2 more)	RCV001333281 RCV001678595 RCV001785950 RCV005361872 RCV003152804 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Likely pathogenic	rs1057519269, rs1057519270	RCV000824906 RCV000824907	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
AP3B2-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31371564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	27889060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	25056994, 26643602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	25056994, 26643602, 36360171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	20921022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	20921022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	27889060		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	27889060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27889060		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung disease	Pubtator	29093530	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20921022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language development disorders	Pubtator	27889060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	27889060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

AP3B2 (adaptor related protein complex 3 subunit beta 2)