Details for: SCN11A

Gene ID: 11280

Symbol: SCN11A

Ensembl ID: ENSG00000168356

Description: sodium voltage-gated channel alpha subunit 11

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: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2
    Marker Score: 1,996
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1,171
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.53
    Marker Score: 2,904
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169,568
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 857
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4,818
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.05
    Marker Score: 2,133
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,829
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,054
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 510
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 463
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.97
    Marker Score: 1,998
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,413
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.94
    Marker Score: 389
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5,331
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2,741
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.88
    Marker Score: 314
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,289
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.86
    Marker Score: 397
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.83
    Marker Score: 13,037
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.82
    Marker Score: 166
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.82
    Marker Score: 625
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,263
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.78
    Marker Score: 2,232
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 709
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.69
    Marker Score: 14,686
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.63
    Marker Score: 379
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.59
    Marker Score: 377
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.58
    Marker Score: 504
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 447
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.52
    Marker Score: 701
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.5
    Marker Score: 779
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.46
    Marker Score: 123
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.45
    Marker Score: 3,020
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.42
    Marker Score: 201
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.41
    Marker Score: 129
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.39
    Marker Score: 173
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.39
    Marker Score: 23,717
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.38
    Marker Score: 225
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.37
    Marker Score: 3,553
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.37
    Marker Score: 340
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.37
    Marker Score: 3,138
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.35
    Marker Score: 157
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.34
    Marker Score: 594
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.29
    Marker Score: 2,698
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.28
    Marker Score: 162
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.26
    Marker Score: 312
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.26
    Marker Score: 1,078
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.25
    Marker Score: 356
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.24
    Marker Score: 983
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.23
    Marker Score: 74
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.22
    Marker Score: 8,248
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.21
    Marker Score: 63
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.21
    Marker Score: 237
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.21
    Marker Score: 495
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.21
    Marker Score: 54
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.2
    Marker Score: 2,097
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.2
    Marker Score: 126
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.19
    Marker Score: 744
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.18
    Marker Score: 648
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.18
    Marker Score: 3,569
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.17
    Marker Score: 6,542
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.17
    Marker Score: 113
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.17
    Marker Score: 403
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.16
    Marker Score: 178
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.16
    Marker Score: 65
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.16
    Marker Score: 122
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.15
    Marker Score: 228
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.15
    Marker Score: 575
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.14
    Marker Score: 593
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.14
    Marker Score: 95
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.14
    Marker Score: 146
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.14
    Marker Score: 40
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.13
    Marker Score: 1,996
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.13
    Marker Score: 39
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.13
    Marker Score: 121
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.13
    Marker Score: 37
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.13
    Marker Score: 440
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.13
    Marker Score: 980
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.13
    Marker Score: 40
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.13
    Marker Score: 44
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.12
    Marker Score: 128
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.12
    Marker Score: 90
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.12
    Marker Score: 56
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.12
    Marker Score: 68
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.12
    Marker Score: 49
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.11
    Marker Score: 30
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.11
    Marker Score: 68
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.11
    Marker Score: 99
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.11
    Marker Score: 53
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.11
    Marker Score: 71

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 sodium channel**: SCN11A is a voltage-gated sodium channel (Nav1.7) that facilitates the rapid depolarization of the neuronal membrane during action potential generation. 2. **Pain perception**: SCN11A is specifically implicated in the detection of mechanical and thermal stimuli involved in pain perception, particularly in the context of chronic inflammatory response and neuropathic pain. 3. **Cardiac conduction**: The channel is also essential for cardiac muscle cell action potential, which regulates heartbeat and cardiac contraction. 4. **Neuronal development**: SCN11A is involved in axonogenesis, axon guidance, and neuronal cell body development, highlighting its critical role in neural formation and function. 5. **Cellular heterogeneity**: SCN11A is expressed in a wide range of cell types, including enterocytes, cardiac endothelial cells, and GABAergic interneurons, underscoring its functional diversity. **Pathways and Functions** 1. **Action potential initiation**: SCN11A facilitates the rapid depolarization of the neuronal membrane during action potential generation, enabling the transmission of neural signals. 2. **Acute inflammatory response**: SCN11A is involved in the detection of mechanical and thermal stimuli, contributing to the initiation of acute inflammatory responses. 3. **Axonogenesis and axon guidance**: SCN11A regulates the growth and guidance of axons, essential for neuronal development and connectivity. 4. **Pain perception**: SCN11A is specifically implicated in the detection of mechanical and thermal stimuli involved in pain perception, particularly in the context of chronic inflammatory response and neuropathic pain. 5. **Cardiac conduction**: SCN11A regulates cardiac muscle cell action potential, which regulates heartbeat and cardiac contraction. **Clinical Significance** 1. **Neuropathic pain**: SCN11A mutations have been associated with inherited forms of neuropathic pain, such as congenital insensitivity to pain with anhidrosis (CIPA). 2. **Cardiac arrhythmias**: SCN11A mutations have been linked to cardiac conduction disorders, including long QT syndrome and Brugada syndrome. 3. **Neurodevelopmental disorders**: SCN11A mutations have been implicated in neurodevelopmental disorders, including autism spectrum disorder and attention-deficit/hyperactivity disorder (ADHD). 4. **Cancer**: SCN11A has been identified as a potential oncogene, with its expression and activity contributing to cancer progression and metastasis. 5. **Therapeutic applications**: SCN11A inhibitors have shown promise in preclinical models for the treatment of neuropathic pain, cardiac arrhythmias, and cancer. In conclusion, SCN11A is a critical gene involved in various physiological and pathological processes, including pain perception, cardiac conduction, and neuronal development. Its diverse expression and functional significance underscore its importance in understanding human disease and developing novel therapeutic strategies.

Genular Protein ID: 696292269

Symbol: SCNBA_HUMAN

Name: Peripheral nerve sodium channel 5

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10580103

Title: Two tetrodotoxin-resistant sodium channels in human dorsal root ganglion neurons.

PubMed ID: 10580103

DOI: 10.1016/s0014-5793(99)01519-7

PubMed ID: 10623608

Title: Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A.

PubMed ID: 10623608

DOI: 10.1006/bbrc.1999.1916

PubMed ID: 12384689

Title: Neurotrophin-evoked depolarization requires the sodium channel Nav1.9.

PubMed ID: 12384689

DOI: 10.1038/nature01085

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15302875

Title: Expression of alternatively spliced sodium channel alpha-subunit genes: unique splicing patterns are observed in dorsal root ganglia.

PubMed ID: 15302875

DOI: 10.1074/jbc.m406387200

PubMed ID: 24207120

Title: Gain-of-function mutations in SCN11A cause familial episodic pain.

PubMed ID: 24207120

DOI: 10.1016/j.ajhg.2013.09.016

PubMed ID: 24036948

Title: A de novo gain-of-function mutation in SCN11A causes loss of pain perception.

PubMed ID: 24036948

DOI: 10.1038/ng.2767

PubMed ID: 24776970

Title: Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.

PubMed ID: 24776970

DOI: 10.1093/brain/awu079

PubMed ID: 26645915

Title: Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.

PubMed ID: 26645915

DOI: 10.1038/ncomms10049

PubMed ID: 25791876

Title: The domain II S4-S5 linker in Nav1.9: a missense mutation enhances activation, impairs fast inactivation, and produces human painful neuropathy.

PubMed ID: 25791876

DOI: 10.1007/s12017-015-8347-9

PubMed ID: 27224030

Title: Infantile pain episodes associated with novel Nav1.9 mutations in familial episodic pain syndrome in japanese families.

PubMed ID: 27224030

DOI: 10.1371/journal.pone.0154827

Sequence Information:

  • Length: 1791
  • Mass: 204922
  • Checksum: DE38680BFB639ED1
  • Sequence:
  • MDDRCYPVIF PDERNFRPFT SDSLAAIEKR IAIQKEKKKS KDQTGEVPQP RPQLDLKASR 
    KLPKLYGDIP RELIGKPLED LDPFYRNHKT FMVLNRKRTI YRFSAKHALF IFGPFNSIRS 
    LAIRVSVHSL FSMFIIGTVI INCVFMATGP AKNSNSNNTD IAECVFTGIY IFEALIKILA 
    RGFILDEFSF LRDPWNWLDS IVIGIAIVSY IPGITIKLLP LRTFRVFRAL KAISVVSRLK 
    VIVGALLRSV KKLVNVIILT FFCLSIFALV GQQLFMGSLN LKCISRDCKN ISNPEAYDHC 
    FEKKENSPEF KMCGIWMGNS ACSIQYECKH TKINPDYNYT NFDNFGWSFL AMFRLMTQDS 
    WEKLYQQTLR TTGLYSVFFF IVVIFLGSFY LINLTLAVVT MAYEEQNKNV AAEIEAKEKM 
    FQEAQQLLKE EKEALVAMGI DRSSLTSLET SYFTPKKRKL FGNKKRKSFF LRESGKDQPP 
    GSDSDEDCQK KPQLLEQTKR LSQNLSLDHF DEHGDPLQRQ RALSAVSILT ITMKEQEKSQ 
    EPCLPCGENL ASKYLVWNCC PQWLCVKKVL RTVMTDPFTE LAITICIIIN TVFLAMEHHK 
    MEASFEKMLN IGNLVFTSIF IAEMCLKIIA LDPYHYFRRG WNIFDSIVAL LSFADVMNCV 
    LQKRSWPFLR SFRVLRVFKL AKSWPTLNTL IKIIGNSVGA LGSLTVVLVI VIFIFSVVGM 
    QLFGRSFNSQ KSPKLCNPTG PTVSCLRHWH MGDFWHSFLV VFRILCGEWI ENMWECMQEA 
    NASSSLCVIV FILITVIGKL VVLNLFIALL LNSFSNEERN GNLEGEARKT KVQLALDRFR 
    RAFCFVRHTL EHFCHKWCRK QNLPQQKEVA GGCAAQSKDI IPLVMEMKRG SETQEELGIL 
    TSVPKTLGVR HDWTWLAPLA EEEDDVEFSG EDNAQRITQP EPEQQAYELH QENKKPTSQR 
    VQSVEIDMFS EDEPHLTIQD PRKKSDVTSI LSECSTIDLQ DGFGWLPEMV PKKQPERCLP 
    KGFGCCFPCC SVDKRKPPWV IWWNLRKTCY QIVKHSWFES FIIFVILLSS GALIFEDVHL 
    ENQPKIQELL NCTDIIFTHI FILEMVLKWV AFGFGKYFTS AWCCLDFIIV IVSVTTLINL 
    MELKSFRTLR ALRPLRALSQ FEGMKVVVNA LIGAIPAILN VLLVCLIFWL VFCILGVYFF 
    SGKFGKCING TDSVINYTII TNKSQCESGN FSWINQKVNF DNVGNAYLAL LQVATFKGWM 
    DIIYAAVDST EKEQQPEFES NSLGYIYFVV FIIFGSFFTL NLFIGVIIDN FNQQQKKLGG 
    QDIFMTEEQK KYYNAMKKLG SKKPQKPIPR PLNKCQGLVF DIVTSQIFDI IIISLIILNM 
    ISMMAESYNQ PKAMKSILDH LNWVFVVIFT LECLIKIFAL RQYYFTNGWN LFDCVVVLLS 
    IVSTMISTLE NQEHIPFPPT LFRIVRLARI GRILRLVRAA RGIRTLLFAL MMSLPSLFNI 
    GLLLFLIMFI YAILGMNWFS KVNPESGIDD IFNFKTFASS MLCLFQISTS AGWDSLLSPM 
    LRSKESCNSS SENCHLPGIA TSYFVSYIII SFLIVVNMYI AVILENFNTA TEESEDPLGE 
    DDFDIFYEVW EKFDPEATQF IKYSALSDFA DALPEPLRVA KPNKYQFLVM DLPMVSEDRL 
    HCMDILFAFT ARVLGGSDGL DSMKAMMEEK FMEANPLKKL YEPIVTTTKR KEEERGAAII 
    QKAFRKYMMK VTKGDQGDQN DLENGPHSPL QTLCNGDLSS FGVAKGKVHC D

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.