WormBase Tree Display for Gene: WBGene00003168

WBGene00003168 SMap: S_parent: Sequence: T01C8
  Identity: Version: 1
    Name: CGC_name: mec-4 Person_evidence: WBPerson95
      Sequence_name: T01C8.7
      Molecular_name: T01C8.7
        T01C8.7.1
        CE39109
      Other_name: mec-13
        CELE_T01C8.7 Accession_evidence: NDB BX284606
      Public_name: mec-4
    DB_info: Database: AceView gene XR418
        WormQTL gene WBGene00003168
        WormFlux gene WBGene00003168
        NDB locus_tag CELE_T01C8.7
        Panther gene CAEEL|WormBase=WBGene00003168|UniProtKB=P24612
          family PTHR11690
        NCBI gene 181728
        RefSeq protein NM_078311.8
        SwissProt UniProtAcc P24612
        UniProt_GCRP UniProtAcc P24612
        OMIM gene 600228
            600760
            600761
    Species: Caenorhabditis elegans
    History: Version_change: 1 07 Apr 2004 11:29:31 WBPerson1971 Event: Imported: Initial conversion from geneace
    Status: Live
  Gene_info: Biotype: SO:0001217
    Gene_class: mec
    Allele (162)
    Legacy_information: u52amber : touch insensitive lethargic. ES2 ME2. NA > 50 (e1339 (weak allele sometimes touch sensitive in tail); e1497 u45ts etc.). Class 3 alleles e1611dm (pka mec-13 : touch insensitive microtubule cells become vacuolated and die in e1611 and e1611/+; probably neomorphic). ES2 ME3. NA (dominant) 3. Intragenic revertants (e.g. e1611e1879) resemble u52.
      See mec-4.
      See also e1339, e1879
      [C.elegansII] u52amb : touch insensitive, lethargic. ES2 ME2. OA>50: e1339 (weak allele, sometimes touch sensitive in tail), e1497, u45ts etc. Also dominant Deg alleles: e1611dm (pka mec-13, touch insensitive, microtubule cells become vacuolated and die in e1611 and e1611/+; neomorphic. ES2 ME3. Intragenic revertants (e.g. e1611e1879) resemble u52. OA2 (dominant). Cloned: encodes protein related to mammalian ENaC sodium channel subunit. Deg alleles are bulky missense changes at A442. See also deg-1,mec-10. [Driscoll and Chalfie 1991; Hong and Driscoll 1994; TU; ZB]
    Strain (17)
    RNASeq_FPKM (74)
    GO_annotation (50)
    Ortholog (51)
    Paralog (30)
    Structured_description: Concise_description: mec-4 encodes an amiloride-sensitive Na+ channel protein (degenerin) required to sense gentle mechanical stimuli (e.g. touch) along the body wall; MEC-4 is paralogous to, and coexpressed with, MEC-10, in all six touch cell neurons where they form a heteromeric mechanotransduction channel. Paper_evidence: WBPaper00005127
            WBPaper00005234
            WBPaper00005591
            WBPaper00005849
          Curator_confirmed: WBPerson1843
          Date_last_updated: 17 Jun 2004 00:00:00
      Automated_description: Enables ligand-gated sodium channel activity. Involved in regulation of multicellular organismal process; response to mechanical stimulus; and sodium ion transmembrane transport. Located in axon and neuron projection membrane. Expressed in touch receptor neurons. Used to study ischemia and neurodegenerative disease. Human ortholog(s) of this gene implicated in bronchiectasis (multiple); neuroblastoma; and renal tubular transport disease (multiple). Is an ortholog of human SCNN1B (sodium channel epithelial 1 subunit beta); SCNN1D (sodium channel epithelial 1 subunit delta); and SCNN1G (sodium channel epithelial 1 subunit gamma). Paper_evidence: WBPaper00065943
          Curator_confirmed: WBPerson324
            WBPerson37462
          Inferred_automatically: This description was generated automatically by a script based on data from the WS291 version of WormBase
          Date_last_updated: 29 Nov 2023 00:00:00
  Disease_info: Experimental_model: DOID:326 Homo sapiens Paper_evidence: WBPaper00024867
          Curator_confirmed: WBPerson324
          Date_last_updated: 21 Sep 2019 00:00:00
      DOID:1289 Homo sapiens Paper_evidence: WBPaper00001872
          Curator_confirmed: WBPerson324
          Date_last_updated: 21 Sep 2018 00:00:00
    Potential_model: DOID:0080526 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:10600)
      DOID:0080527 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:10599)
      DOID:0050477 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:10599,HGNC:10600,HGNC:10602)
      DOID:4479 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:10599,HGNC:10600,HGNC:10602)
      DOID:0080528 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:10602)
      DOID:769 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:10599)
    Disease_relevance: C. elegans mec-4 and deg-1 genes encode proteins, called degenerins, that are similar to the subunits of the human amiloride-sensitive epithelial sodium-channels; ion channel hyperactivation can result in neuronal loss in injury, ischemia/stroke and neurodegenerative disease; a dominant mutation in the mec-4 mechanosensory channel, induces neuronal necrosis through an increase in intracellular calcium and calpain activation; MEC-4(d) itself conducts calcium both when heterologously expressed in Xenopus oocytes and invivo in C . elegans touch neurons; this supports a molecular model of necrosis where calcium influx through the MEC-4 (d) channel activates calcium-induced calcium release from the ER to promote neuronal death, a mechanism that may apply to neurotoxicity associated with activation of the ASIC1a channel in mammalian ischemia. Homo sapiens Paper_evidence: WBPaper00032072
            WBPaper00001872
          Curator_confirmed: WBPerson324
          Date_last_updated: 24 Nov 2014 00:00:00
  Models_disease_in_annotation: WBDOannot00000332
    WBDOannot00000333
  Molecular_info: Corresponding_CDS: T01C8.7
    Corresponding_CDS_history: T01C8.7:wp148
    Corresponding_transcript: T01C8.7.1
    Other_sequence: PPC12150_1
      JI211692.1
      Oden_isotig08538
      Oden_isotig22436
      Dviv_isotig28064
      FK801600.1
      Tcol_isotig24133
      JI233135.1
      Acan_isotig14824
    Associated_feature: WBsf671485
      WBsf977525
  Experimental_info: RNAi_result: WBRNAi00052113 Inferred_automatically: RNAi_primary
      WBRNAi00017962 Inferred_automatically: RNAi_primary
      WBRNAi00089577 Inferred_automatically: RNAi_primary
    Expr_pattern (15)
    Drives_construct (159)
    Construct_product (15)
    Antibody: WBAntibody00000110
      WBAntibody00001355
      WBAntibody00001578
    Microarray_results (20)
    Expression_cluster (110)
    Interaction (193)
    WBProcess: WBbiopr:00000002
      WBbiopr:00000013
  Map_info: Map: X Position: 24.0629 Error: 0.000371
    Well_ordered
    Positive: Positive_clone: T01C8 Inferred_automatically: From sequence, transcript, pseudogene data
        T20B9
    Mapping_data: 2_point: 172
        3645
      Multi_point: 277
        426
        1206
        1544
        1545
        5059
      Pos_neg_data: 534
        535
        537
        538
        539
        1848
        1919
        2188
        2332
        3639
  Reference: WBPaper00000502
    WBPaper00000513
    WBPaper00000608
    WBPaper00000627
    WBPaper00000688
    WBPaper00000708
    WBPaper00000977
    WBPaper00001052
    WBPaper00001125
    WBPaper00001126
    WBPaper00001237
    WBPaper00001256
    WBPaper00001292
    WBPaper00001296
    WBPaper00001299
    WBPaper00001364
    WBPaper00001386
    WBPaper00001387
    WBPaper00001487
    WBPaper00001491
    WBPaper00001570
    WBPaper00001642
    WBPaper00001664
    WBPaper00001693
    WBPaper00001704
    WBPaper00001709
    WBPaper00001712
    WBPaper00001727
    WBPaper00001732
    WBPaper00001764
    WBPaper00001793
    WBPaper00001804
    WBPaper00001829
    WBPaper00001871
    WBPaper00001872
    WBPaper00001873
    WBPaper00002006
    WBPaper00002138
    WBPaper00002163
    WBPaper00002172
    WBPaper00002173
    WBPaper00002185
    WBPaper00002308
    WBPaper00002322
    WBPaper00002333
    WBPaper00002355
    WBPaper00002362
    WBPaper00002403
    WBPaper00002416
    WBPaper00002437
    WBPaper00002445
    WBPaper00002465
    WBPaper00002471
    WBPaper00002482
    WBPaper00002489
    WBPaper00002490
    WBPaper00002579
    WBPaper00002592
    WBPaper00002711
    WBPaper00002721
    WBPaper00002737
    WBPaper00002756
    WBPaper00002800
    WBPaper00002824
    WBPaper00002891
    WBPaper00002917
    WBPaper00002956
    WBPaper00003024
    WBPaper00003027
    WBPaper00003199
    WBPaper00003265
    WBPaper00003309
    WBPaper00003408
    WBPaper00003679
    WBPaper00003680
    WBPaper00003833
    WBPaper00003902
    WBPaper00003932
    WBPaper00003969
    WBPaper00004218
    WBPaper00004271
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    WBPaper00004852
    WBPaper00005202
    WBPaper00005226
    WBPaper00005234
    WBPaper00005242
    WBPaper00005356
    WBPaper00005391
    WBPaper00005511
    WBPaper00005513
    WBPaper00005559
    WBPaper00005591
    WBPaper00005666
    WBPaper00005753
    WBPaper00005787
    WBPaper00005849
    WBPaper00005924
    WBPaper00006018
    WBPaper00006076
    WBPaper00006106
    WBPaper00006300
    WBPaper00006402
    WBPaper00010266
    WBPaper00010267
    WBPaper00010335
    WBPaper00010336
    WBPaper00010416
    WBPaper00010427
    WBPaper00010499
    WBPaper00010638
    WBPaper00010731
    WBPaper00010807
    WBPaper00010808
    WBPaper00010841
    WBPaper00010869
    WBPaper00010921
    WBPaper00010934
    WBPaper00010943
    WBPaper00010970
    WBPaper00011014
    WBPaper00011023
    WBPaper00011043
    WBPaper00011127
    WBPaper00011159
    WBPaper00011178
    WBPaper00011211
    WBPaper00011213
    WBPaper00011362
    WBPaper00011428
    WBPaper00011634
    WBPaper00012727
    WBPaper00013320
    WBPaper00013737
    WBPaper00013928
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    WBPaper00013964
    WBPaper00014192
    WBPaper00014198
    WBPaper00014233
    WBPaper00014271
    WBPaper00014477
    WBPaper00014542
    WBPaper00014584
    WBPaper00014637
    WBPaper00014710
    WBPaper00014711
    WBPaper00014747
    WBPaper00014762
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    WBPaper00015271
    WBPaper00015292
    WBPaper00015305
    WBPaper00015371
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    WBPaper00015405
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    WBPaper00015440
    WBPaper00015496
    WBPaper00016119
    WBPaper00016322
    WBPaper00016381
    WBPaper00016499
    WBPaper00016795
    WBPaper00016901
    WBPaper00017197
    WBPaper00017215
    WBPaper00017610
    WBPaper00017693
    WBPaper00017779
    WBPaper00017889
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    WBPaper00018248
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    WBPaper00018532
    WBPaper00018904
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    WBPaper00020765
    WBPaper00021078
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    WBPaper00024447
    WBPaper00024569
    WBPaper00024641
    WBPaper00024811
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    WBPaper00024889
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    WBPaper00028097
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    WBPaper00031045
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    WBPaper00031965
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    WBPaper00032358
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    WBPaper00033087
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    WBPaper00034065
    WBPaper00035385
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    WBPaper00037063
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    WBPaper00037283
    WBPaper00037308
    WBPaper00037646
    WBPaper00037657
    WBPaper00038142
    WBPaper00038487
    WBPaper00038491
    WBPaper00038857
    WBPaper00039076
    WBPaper00039217
    WBPaper00039228
    WBPaper00039337
    WBPaper00039345
    WBPaper00039370
    WBPaper00039982
    WBPaper00040149
    WBPaper00040420
    WBPaper00040525
    WBPaper00041927
    WBPaper00042065
    WBPaper00043086
    WBPaper00043679
    WBPaper00044004
    WBPaper00044510
    WBPaper00044524
    WBPaper00044659
    WBPaper00044706
    WBPaper00044907
    WBPaper00045819
    WBPaper00046300
    WBPaper00046423
    WBPaper00046973
    WBPaper00047547
    WBPaper00047789
    WBPaper00047874
    WBPaper00048013
    WBPaper00048027
    WBPaper00048504
    WBPaper00048712
    WBPaper00049074
    WBPaper00049330
    WBPaper00049676
    WBPaper00050317
    WBPaper00051925
    WBPaper00052534
    WBPaper00052558
    WBPaper00052611
    WBPaper00052770
    WBPaper00052891
    WBPaper00053740
    WBPaper00054457
    WBPaper00054775
    WBPaper00054879
    WBPaper00055090
    WBPaper00056475
    WBPaper00057159
    WBPaper00057695
    WBPaper00058237
    WBPaper00058458
    WBPaper00059172
    WBPaper00059213
    WBPaper00059377
    WBPaper00059659
    WBPaper00059876
    WBPaper00060426
    WBPaper00060484
    WBPaper00060799
    WBPaper00060889
    WBPaper00061024
    WBPaper00061109
    WBPaper00061139
    WBPaper00061520
    WBPaper00061550
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    WBPaper00061917
    WBPaper00061945
    WBPaper00062051
    WBPaper00062221
    WBPaper00062427
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    WBPaper00063014
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    WBPaper00063566
    WBPaper00064005
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    WBPaper00064056
    WBPaper00064228
    WBPaper00064563
    WBPaper00064789
    WBPaper00065085
    WBPaper00065340
    WBPaper00065354
    WBPaper00065693
    WBPaper00065804
  Method: Gene