Details for: CACNA1B

Gene ID: 774

Symbol: CACNA1B

Ensembl ID: ENSG00000148408

Description: calcium voltage-gated channel subunit alpha1 B

Associated with

Cells (max top 100)

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

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 4.73
    Marker Score: 2,619
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.88
    Marker Score: 17,966
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 3.77
    Marker Score: 127,418
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 3.24
    Marker Score: 16,975
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 3.1
    Marker Score: 16,655
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 3.06
    Marker Score: 7,024
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.96
    Marker Score: 4,970
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.86
    Marker Score: 8,159
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.86
    Marker Score: 56,797
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.85
    Marker Score: 21,868
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.83
    Marker Score: 42,334
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.7
    Marker Score: 102,701
  • Cell Name: granule cell (CL0000120)
    Fold Change: 2.65
    Marker Score: 19,983
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.57
    Marker Score: 1,078
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.56
    Marker Score: 10,604
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 2.46
    Marker Score: 1,427
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.4
    Marker Score: 88,643
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.37
    Marker Score: 9,144
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 2.3
    Marker Score: 2,869
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.19
    Marker Score: 20,601
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.18
    Marker Score: 840
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.07
    Marker Score: 127,542
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 2.06
    Marker Score: 652
  • Cell Name: neuron (CL0000540)
    Fold Change: 2.03
    Marker Score: 8,250
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.02
    Marker Score: 20,844
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.93
    Marker Score: 18,303
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.92
    Marker Score: 2,705
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.92
    Marker Score: 525
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.88
    Marker Score: 16,150
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.86
    Marker Score: 613
  • Cell Name: interneuron (CL0000099)
    Fold Change: 1.8
    Marker Score: 821
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.76
    Marker Score: 5,899
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.74
    Marker Score: 834
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 1.68
    Marker Score: 511
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.65
    Marker Score: 2,548
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.6
    Marker Score: 34,169
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.58
    Marker Score: 2,993
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.49
    Marker Score: 670
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.49
    Marker Score: 836
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167,430
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.38
    Marker Score: 725
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 869
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.26
    Marker Score: 5,267
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.13
    Marker Score: 747
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.05
    Marker Score: 2,143
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.02
    Marker Score: 2,592
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.02
    Marker Score: 15,954
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,799
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,026
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,406
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.94
    Marker Score: 1,703
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5,334
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2,743
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.88
    Marker Score: 671
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.87
    Marker Score: 365
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,286
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.84
    Marker Score: 731
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.83
    Marker Score: 960
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.82
    Marker Score: 1,016
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,263
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.76
    Marker Score: 454
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.75
    Marker Score: 7,629
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.7
    Marker Score: 419
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.68
    Marker Score: 512
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.67
    Marker Score: 212
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.65
    Marker Score: 335
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.64
    Marker Score: 183
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.58
    Marker Score: 386
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.58
    Marker Score: 461
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.58
    Marker Score: 1,195
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.55
    Marker Score: 186
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.54
    Marker Score: 862
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.52
    Marker Score: 249
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.5
    Marker Score: 146
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.5
    Marker Score: 871
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.49
    Marker Score: 139
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.47
    Marker Score: 957
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.46
    Marker Score: 511
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.45
    Marker Score: 1,080
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.45
    Marker Score: 504
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.45
    Marker Score: 157
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.45
    Marker Score: 181
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.44
    Marker Score: 158
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.42
    Marker Score: 406
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.4
    Marker Score: 935
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 372
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.37
    Marker Score: 151
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.36
    Marker Score: 206
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.36
    Marker Score: 359
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.36
    Marker Score: 116
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.33
    Marker Score: 300
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.33
    Marker Score: 192
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.32
    Marker Score: 141
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.32
    Marker Score: 185
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.3
    Marker Score: 95
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.29
    Marker Score: 74

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** 1. **Voltage-gated calcium channel**: The CACNA1B gene encodes for the alpha1B subunit of voltage-gated calcium channels, which are critical for the influx of calcium ions into neurons. 2. **Neuronal expression**: The alpha1B subunit is highly expressed in various neuronal populations, including inhibitory interneurons, Purkinje cells, and pyramidal neurons. 3. **Synaptic transmission**: The alpha1B subunit is involved in the modulation of synaptic transmission, particularly in the regulation of neurotransmitter release. 4. **Amyloid-beta binding**: The alpha1B subunit has been shown to interact with amyloid-beta, a peptide implicated in Alzheimer's disease. **Pathways and Functions:** 1. **Calcium ion import**: The alpha1B subunit regulates calcium ion import across the plasma membrane, which is essential for neuronal function and synaptic plasticity. 2. **Neuronal excitability**: The alpha1B subunit modulates neuronal excitability by regulating calcium influx into neurons. 3. **Synaptic plasticity**: The alpha1B subunit is involved in the regulation of synaptic plasticity, particularly in the context of long-term potentiation (LTP) and long-term depression (LTD). 4. **Neurotransmitter release**: The alpha1B subunit regulates neurotransmitter release by modulating the activity of voltage-gated calcium channels. **Clinical Significance:** 1. **Alzheimer's disease**: The alpha1B subunit has been implicated in Alzheimer's disease, particularly in the context of amyloid-beta binding and synaptic dysfunction. 2. **Schizophrenia**: The alpha1B subunit has been linked to schizophrenia, particularly in the context of synaptic dysfunction and neuronal excitability. 3. **Mood disorders**: The alpha1B subunit has been implicated in mood disorders, particularly in the context of synaptic plasticity and neuronal excitability. 4. **Neurodevelopmental disorders**: The alpha1B subunit has been linked to neurodevelopmental disorders, particularly in the context of synaptic dysfunction and neuronal excitability. In conclusion, the CACNA1B gene plays a critical role in regulating calcium signaling and neuronal function. Its dysregulation has been implicated in various neurological disorders, including Alzheimer's disease, schizophrenia, mood disorders, and neurodevelopmental disorders. Further research is necessary to fully elucidate the mechanisms underlying the CACNA1B gene and its role in human disease.

Genular Protein ID: 3918820872

Symbol: CAC1B_HUMAN

Name: Voltage-dependent N-type calcium channel subunit alpha-1B

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1321501

Title: Structure and functional expression of an omega-conotoxin-sensitive human N-type calcium channel.

PubMed ID: 1321501

DOI: 10.1126/science.1321501

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 9030575

Title: Isolation and characterization of the 5'-upstream region of the human N-type calcium channel alpha1B subunit gene. Chromosomal localization and promoter analysis.

PubMed ID: 9030575

DOI: 10.1074/jbc.272.8.5098

PubMed ID: 25296916

Title: CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.

PubMed ID: 25296916

DOI: 10.1093/hmg/ddu513

PubMed ID: 26157024

Title: The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.

PubMed ID: 26157024

DOI: 10.1093/hmg/ddv255

PubMed ID: 30982612

Title: Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia.

PubMed ID: 30982612

DOI: 10.1016/j.ajhg.2019.03.005

PubMed ID: 34234349

Title: Structure of human Cav2.2 channel blocked by the painkiller ziconotide.

PubMed ID: 34234349

DOI: 10.1038/s41586-021-03699-6

Sequence Information:

  • Length: 2339
  • Mass: 262496
  • Checksum: 17A45C6D1E76B39D
  • Sequence:
  • MVRFGDELGG RYGGPGGGER ARGGGAGGAG GPGPGGLQPG QRVLYKQSIA QRARTMALYN 
    PIPVKQNCFT VNRSLFVFSE DNVVRKYAKR ITEWPPFEYM ILATIIANCI VLALEQHLPD 
    GDKTPMSERL DDTEPYFIGI FCFEAGIKII ALGFVFHKGS YLRNGWNVMD FVVVLTGILA 
    TAGTDFDLRT LRAVRVLRPL KLVSGIPSLQ VVLKSIMKAM VPLLQIGLLL FFAILMFAII 
    GLEFYMGKFH KACFPNSTDA EPVGDFPCGK EAPARLCEGD TECREYWPGP NFGITNFDNI 
    LFAILTVFQC ITMEGWTDIL YNTNDAAGNT WNWLYFIPLI IIGSFFMLNL VLGVLSGEFA 
    KERERVENRR AFLKLRRQQQ IERELNGYLE WIFKAEEVML AEEDRNAEEK SPLDVLKRAA 
    TKKSRNDLIH AEEGEDRFAD LCAVGSPFAR ASLKSGKTES SSYFRRKEKM FRFFIRRMVK 
    AQSFYWVVLC VVALNTLCVA MVHYNQPRRL TTTLYFAEFV FLGLFLTEMS LKMYGLGPRS 
    YFRSSFNCFD FGVIVGSVFE VVWAAIKPGS SFGISVLRAL RLLRIFKVTK YWSSLRNLVV 
    SLLNSMKSII SLLFLLFLFI VVFALLGMQL FGGQFNFQDE TPTTNFDTFP AAILTVFQIL 
    TGEDWNAVMY HGIESQGGVS KGMFSSFYFI VLTLFGNYTL LNVFLAIAVD NLANAQELTK 
    DEEEMEEAAN QKLALQKAKE VAEVSPMSAA NISIAARQQN SAKARSVWEQ RASQLRLQNL 
    RASCEALYSE MDPEERLRFA TTRHLRPDMK THLDRPLVVE LGRDGARGPV GGKARPEAAE 
    APEGVDPPRR HHRHRDKDKT PAAGDQDRAE APKAESGEPG AREERPRPHR SHSKEAAGPP 
    EARSERGRGP GPEGGRRHHR RGSPEEAAER EPRRHRAHRH QDPSKECAGA KGERRARHRG 
    GPRAGPREAE SGEEPARRHR ARHKAQPAHE AVEKETTEKE ATEKEAEIVE ADKEKELRNH 
    QPREPHCDLE TSGTVTVGPM HTLPSTCLQK VEEQPEDADN QRNVTRMGSQ PPDPNTIVHI 
    PVMLTGPLGE ATVVPSGNVD LESQAEGKKE VEADDVMRSG PRPIVPYSSM FCLSPTNLLR 
    RFCHYIVTMR YFEVVILVVI ALSSIALAAE DPVRTDSPRN NALKYLDYIF TGVFTFEMVI 
    KMIDLGLLLH PGAYFRDLWN ILDFIVVSGA LVAFAFSGSK GKDINTIKSL RVLRVLRPLK 
    TIKRLPKLKA VFDCVVNSLK NVLNILIVYM LFMFIFAVIA VQLFKGKFFY CTDESKELER 
    DCRGQYLDYE KEEVEAQPRQ WKKYDFHYDN VLWALLTLFT VSTGEGWPMV LKHSVDATYE 
    EQGPSPGYRM ELSIFYVVYF VVFPFFFVNI FVALIIITFQ EQGDKVMSEC SLEKNERACI 
    DFAISAKPLT RYMPQNRQSF QYKTWTFVVS PPFEYFIMAM IALNTVVLMM KFYDAPYEYE 
    LMLKCLNIVF TSMFSMECVL KIIAFGVLNY FRDAWNVFDF VTVLGSITDI LVTEIAETNN 
    FINLSFLRLF RAARLIKLLR QGYTIRILLW TFVQSFKALP YVCLLIAMLF FIYAIIGMQV 
    FGNIALDDDT SINRHNNFRT FLQALMLLFR SATGEAWHEI MLSCLSNQAC DEQANATECG 
    SDFAYFYFVS FIFLCSFLML NLFVAVIMDN FEYLTRDSSI LGPHHLDEFI RVWAEYDPAA 
    CGRISYNDMF EMLKHMSPPL GLGKKCPARV AYKRLVRMNM PISNEDMTVH FTSTLMALIR 
    TALEIKLAPA GTKQHQCDAE LRKEISVVWA NLPQKTLDLL VPPHKPDEMT VGKVYAALMI 
    FDFYKQNKTT RDQMQQAPGG LSQMGPVSLF HPLKATLEQT QPAVLRGARV FLRQKSSTSL 
    SNGGAIQNQE SGIKESVSWG TQRTQDAPHE ARPPLERGHS TEIPVGRSGA LAVDVQMQSI 
    TRRGPDGEPQ PGLESQGRAA SMPRLAAETQ PVTDASPMKR SISTLAQRPR GTHLCSTTPD 
    RPPPSQASSH HHHHRCHRRR DRKQRSLEKG PSLSADMDGA PSSAVGPGLP PGEGPTGCRR 
    ERERRQERGR SQERRQPSSS SSEKQRFYSC DRFGGREPPK PKPSLSSHPT SPTAGQEPGP 
    HPQGSGSVNG SPLLSTSGAS TPGRGGRRQL PQTPLTPRPS ITYKTANSSP IHFAGAQTSL 
    PAFSPGRLSR GLSEHNALLQ RDPLSQPLAP GSRIGSDPYL GQRLDSEASV HALPEDTLTF 
    EEAVATNSGR SSRTSYVSSL TSQSHPLRRV PNGYHCTLGL SSGGRARHSY HHPDQDHWC

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.