Details for: AP3B2

Gene ID: 8120

Symbol: AP3B2

Ensembl ID: ENSG00000103723

Description: adaptor related protein complex 3 subunit beta 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 86.5782
    Cell Significance Index: -21.9600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 21.7336
    Cell Significance Index: -20.7500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.6364
    Cell Significance Index: -5.7700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.0832
    Cell Significance Index: 131.3000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.0357
    Cell Significance Index: 408.3500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.7818
    Cell Significance Index: 39.0200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.7013
    Cell Significance Index: 48.5500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.4402
    Cell Significance Index: 88.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.1863
    Cell Significance Index: 425.5000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.0871
    Cell Significance Index: 73.1000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.0854
    Cell Significance Index: 26.0300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.0614
    Cell Significance Index: 23.0000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.9414
    Cell Significance Index: 57.8600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.8143
    Cell Significance Index: 26.0800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.7705
    Cell Significance Index: 34.0800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.7653
    Cell Significance Index: 28.9800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6826
    Cell Significance Index: 472.1000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.6817
    Cell Significance Index: 8.4600
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.4640
    Cell Significance Index: 6.1900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3253
    Cell Significance Index: 61.9100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3240
    Cell Significance Index: 8.1000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1930
    Cell Significance Index: 174.2500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1150
    Cell Significance Index: 1.9700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1147
    Cell Significance Index: 11.3500
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.0848
    Cell Significance Index: 1.1000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0533
    Cell Significance Index: 8.6700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0491
    Cell Significance Index: 2.5800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0253
    Cell Significance Index: 2.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0248
    Cell Significance Index: 4.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0056
    Cell Significance Index: 0.6800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0017
    Cell Significance Index: -0.0500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0018
    Cell Significance Index: -3.3200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0023
    Cell Significance Index: -0.0800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0029
    Cell Significance Index: -3.9000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0042
    Cell Significance Index: -7.8300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0059
    Cell Significance Index: -9.0100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0085
    Cell Significance Index: -3.7500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0109
    Cell Significance Index: -0.1300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0196
    Cell Significance Index: -14.5400
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0275
    Cell Significance Index: -0.3000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0300
    Cell Significance Index: -19.0400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0308
    Cell Significance Index: -22.5900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0327
    Cell Significance Index: -18.4500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0332
    Cell Significance Index: -25.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0351
    Cell Significance Index: -19.1500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0393
    Cell Significance Index: -24.5700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0419
    Cell Significance Index: -19.0200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0488
    Cell Significance Index: -2.9300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0501
    Cell Significance Index: -2.2700
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0521
    Cell Significance Index: -0.6500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0639
    Cell Significance Index: -18.3800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0781
    Cell Significance Index: -4.3800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0844
    Cell Significance Index: -2.3600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0848
    Cell Significance Index: -1.8000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0955
    Cell Significance Index: -13.8800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0972
    Cell Significance Index: -19.2800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0991
    Cell Significance Index: -16.9200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1000
    Cell Significance Index: -6.9200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1033
    Cell Significance Index: -21.7600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1258
    Cell Significance Index: -17.2700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1290
    Cell Significance Index: -2.5500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1290
    Cell Significance Index: -16.5400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1524
    Cell Significance Index: -3.0600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1562
    Cell Significance Index: -17.8900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1652
    Cell Significance Index: -5.2600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1663
    Cell Significance Index: -1.9400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1675
    Cell Significance Index: -8.7000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1721
    Cell Significance Index: -22.2400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1790
    Cell Significance Index: -5.8600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1791
    Cell Significance Index: -2.2600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1961
    Cell Significance Index: -13.8700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2042
    Cell Significance Index: -23.8000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2050
    Cell Significance Index: -4.4300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2066
    Cell Significance Index: -21.1000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2074
    Cell Significance Index: -3.1300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2146
    Cell Significance Index: -22.3500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2147
    Cell Significance Index: -25.3200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2325
    Cell Significance Index: -3.3300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2400
    Cell Significance Index: -11.1900
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.2491
    Cell Significance Index: -2.3700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2616
    Cell Significance Index: -20.0800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2902
    Cell Significance Index: -22.9900
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.3027
    Cell Significance Index: -3.8200
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.3070
    Cell Significance Index: -2.9100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3086
    Cell Significance Index: -23.0000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3339
    Cell Significance Index: -8.3300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3443
    Cell Significance Index: -14.9700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3494
    Cell Significance Index: -12.2400
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.3773
    Cell Significance Index: -3.9300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3910
    Cell Significance Index: -8.1100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3920
    Cell Significance Index: -3.6100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3940
    Cell Significance Index: -25.4200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3953
    Cell Significance Index: -20.5900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.4111
    Cell Significance Index: -11.1900
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.4257
    Cell Significance Index: -5.1600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.4384
    Cell Significance Index: -9.1500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4603
    Cell Significance Index: -21.6400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4610
    Cell Significance Index: -6.2900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.5230
    Cell Significance Index: -19.2000
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.5284
    Cell Significance Index: -5.8300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** AP3B2 is a beta-2 subunit of the AP-3 adaptor complex, which is composed of three alpha, beta, and gamma subunits. The AP-3 complex plays a pivotal role in the formation and regulation of clathrin-coated vesicles, which are essential for the transport of proteins, lipids, and other molecules within the cell. AP3B2 is specifically involved in the cargo loading and transport of synaptic vesicles, as well as the recycling of synaptic vesicles in neurons. This subunit is highly expressed in neurons, particularly in the cerebral cortex, and has been implicated in the development and function of various neuronal populations. **Pathways and Functions:** AP3B2 is involved in several key pathways, including: 1. **Anterograde axonal transport**: AP3B2 regulates the transport of proteins and lipids from the somatodendritic compartment to the axon terminals, ensuring the proper functioning of neuronal signaling. 2. **Anterograde synaptic vesicle transport**: AP3B2 is essential for the loading and transport of synaptic vesicles, which are critical for neurotransmitter release and synaptic plasticity. 3. **Intracellular protein transport**: AP3B2 regulates the transport of proteins between different compartments within the cell, including the Golgi apparatus, early endosomes, and the plasma membrane. 4. **Vesicle-mediated transport**: AP3B2 is involved in the formation and regulation of clathrin-coated vesicles, which are essential for the transport of proteins and lipids within the cell. **Clinical Significance:** Dysregulation of AP3B2 has been implicated in various neurological disorders, including: 1. **Neurodegenerative diseases**: AP3B2 has been implicated in the pathogenesis of diseases such as Alzheimer's disease, Parkinson's disease, and Huntington's disease, where disruptions in axonal transport and synaptic function are thought to contribute to disease progression. 2. **Neuropsychiatric conditions**: AP3B2 has been implicated in the pathogenesis of neuropsychiatric conditions such as schizophrenia, bipolar disorder, and major depressive disorder, where disruptions in synaptic function and neuronal plasticity are thought to contribute to disease pathology. 3. **Developmental disorders**: AP3B2 has been implicated in the pathogenesis of developmental disorders such as autism spectrum disorder, where disruptions in synaptic function and neuronal development are thought to contribute to disease pathology. In conclusion, AP3B2 is a critical component of the AP-3 adaptor complex, essential for the regulation of axonal transport, synaptic vesicle transport, and intracellular protein transport in neurons. Dysregulation of AP3B2 has been implicated in various neurological disorders, highlighting the importance of this protein in maintaining proper neuronal function and plasticity. Further studies are needed to fully elucidate the mechanisms by which AP3B2 contributes to disease pathology and to develop effective therapeutic strategies for the treatment of AP3B2-related disorders.

Genular Protein ID: 3047214158

Symbol: AP3B2_HUMAN

Name: AP-3 complex subunit beta-2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7671305

Title: Beta-NAP, a cerebellar degeneration antigen, is a neuron-specific vesicle coat protein.

PubMed ID: 7671305

DOI: 10.1016/0092-8674(95)90474-3

PubMed ID: 17453999

Title: Characterization of AP3B2_v2, a novel splice variant of human AP3B2.

PubMed ID: 17453999

DOI: 10.1080/10425170600842121

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1851215

Title: Antiserum from a patient with cerebellar degeneration identifies a novel protein in Purkinje cells, cortical neurons, and neuroectodermal tumors.

PubMed ID: 1851215

DOI: 10.1523/jneurosci.11-05-01224.1991

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 27889060

Title: Autosomal-recessive mutations in AP3B2, adaptor-related protein complex 3 beta 2 subunit, cause an early-onset epileptic encephalopathy with optic atrophy.

PubMed ID: 27889060

DOI: 10.1016/j.ajhg.2016.10.009

PubMed ID: 27431290

Title: Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

PubMed ID: 27431290

DOI: 10.1038/mp.2016.113

Sequence Information:

  • Length: 1082
  • Mass: 119059
  • Checksum: EE2AC45263F4552E
  • Sequence:
  • MSAAPAYSED KGGSAGPGEP EYGHDPASGG IFSSDYKRHD DLKEMLDTNK DSLKLEAMKR 
    IVAMIARGKN ASDLFPAVVK NVACKNIEVK KLVYVYLVRY AEEQQDLALL SISTFQRGLK 
    DPNQLIRASA LRVLSSIRVP IIVPIMMLAI KEAASDMSPY VRKTAAHAIP KLYSLDSDQK 
    DQLIEVIEKL LADKTTLVAG SVVMAFEEVC PERIDLIHKN YRKLCNLLID VEEWGQVVII 
    SMLTRYARTQ FLSPTQNESL LEENAEKAFY GSEEDEAKGA GSEETAAAAA PSRKPYVMDP 
    DHRLLLRNTK PLLQSRSAAV VMAVAQLYFH LAPKAEVGVI AKALVRLLRS HSEVQYVVLQ 
    NVATMSIKRR GMFEPYLKSF YIRSTDPTQI KILKLEVLTN LANETNIPTV LREFQTYIRS 
    MDKDFVAATI QAIGRCATNI GRVRDTCLNG LVQLLSNRDE LVVAESVVVI KKLLQMQPAQ 
    HGEIIKHLAK LTDNIQVPMA RASILWLIGE YCEHVPRIAP DVLRKMAKSF TAEEDIVKLQ 
    VINLAAKLYL TNSKQTKLLT QYVLSLAKYD QNYDIRDRAR FTRQLIVPSE QGGALSRHAK 
    KLFLAPKPAP VLESSFKDRD HFQLGSLSHL LNAKATGYQE LPDWPEEAPD PSVRNVEVPE 
    WTKCSNREKR KEKEKPFYSD SEGESGPTES ADSDPESESE SDSKSSSESG SGESSSESDN 
    EDQDEDEEKG RGSESEQSEE DGKRKTKKKV PERKGEASSS DEGSDSSSSS SESEMTSESE 
    EEQLEPASWS RKTPPSSKSA PATKEISLLD LEDFTPPSVQ PVSPPAIVST SLAADLEGLT 
    LTDSTLVPSL LSPVSGVGRQ ELLHRVAGEG LAVDYTFSRQ PFSGDPHMVS VHIHFSNSSD 
    TPIKGLHVGT PKLPAGISIQ EFPEIESLAP GESATAVMGI NFCDSTQAAN FQLCTQTRQF 
    YVSIQPPVGE LMAPVFMSEN EFKKEQGKLM GMNEITEKLM LPDTCRSDHI VVQKVTATAN 
    LGRVPCGTSD EYRFAGRTLT GGSLVLLTLD ARPAGAAQLT VNSEKMVIGT MLVKDVIQAL 
    TQ

Genular Protein ID: 2389027533

Symbol: F5GYB0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

Sequence Information:

  • Length: 141
  • Mass: 15462
  • Checksum: A37DBBC5EE6901EF
  • Sequence:
  • MSAAPAYSED KGGSAGPGEP EYGHDPASGG IFSSDYKRHD DLKEMLDTNK DSLKLEAMKR 
    IVAMIARGKN ASDLFPAVVK NVACKNIEVK KLVYVYLVRY AEEQQDLALL SISTFQRGLK 
    EPVVMAASSM NHLSPRRVES L

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.