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 (4)
          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 (2)
          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: WBInteraction000000061
      WBInteraction000000079
      WBInteraction000000360
      WBInteraction000000364
      WBInteraction000000365
      WBInteraction000000366
      WBInteraction000000367
      WBInteraction000000371
      WBInteraction000000375
      WBInteraction000000387
      WBInteraction000000392
      WBInteraction000000464
      WBInteraction000000480
      WBInteraction000000484
      WBInteraction000000487
      WBInteraction000000551
      WBInteraction000000612
      WBInteraction000000614
      WBInteraction000000801
      WBInteraction000001419
      WBInteraction000001421
      WBInteraction000001422
      WBInteraction000001438
      WBInteraction000001842
      WBInteraction000001843
      WBInteraction000001844
      WBInteraction000001845
      WBInteraction000001893
      WBInteraction000001970
      WBInteraction000001973
      WBInteraction000002726
      WBInteraction000003136
      WBInteraction000003138
      WBInteraction000003140
      WBInteraction000003143
      WBInteraction000003201
      WBInteraction000003623
      WBInteraction000004658
      WBInteraction000004966
      WBInteraction000005106
      WBInteraction000005109
      WBInteraction000005111
      WBInteraction000005112
      WBInteraction000005113
      WBInteraction000005114
      WBInteraction000005117
      WBInteraction000005118
      WBInteraction000005119
      WBInteraction000005124
      WBInteraction000005133
      WBInteraction000005137
      WBInteraction000005405
      WBInteraction000005422
      WBInteraction000005646
      WBInteraction000005650
      WBInteraction000005720
      WBInteraction000005735
      WBInteraction000005753
      WBInteraction000005807
      WBInteraction000008773
      WBInteraction000028196
      WBInteraction000028235
      WBInteraction000028238
      WBInteraction000028242
      WBInteraction000028243
      WBInteraction000028244
      WBInteraction000028450
      WBInteraction000028755
      WBInteraction000030075
      WBInteraction000030188
      WBInteraction000030244
      WBInteraction000030932
      WBInteraction000031062
      WBInteraction000031178
      WBInteraction000031179
      WBInteraction000031180
      WBInteraction000031181
      WBInteraction000052050
      WBInteraction000121252
      WBInteraction000126120
      WBInteraction000126233
      WBInteraction000126237
      WBInteraction000126240
      WBInteraction000126421
      WBInteraction000126601
      WBInteraction000126628
      WBInteraction000127573
      WBInteraction000136449
      WBInteraction000136453
      WBInteraction000136456
      WBInteraction000136460
      WBInteraction000152457
      WBInteraction000165602
      WBInteraction000165774
      WBInteraction000165776
      WBInteraction000165896
      WBInteraction000166057
      WBInteraction000166059
      WBInteraction000166060
      WBInteraction000166061
      WBInteraction000166231
      WBInteraction000166415
      WBInteraction000166797
      WBInteraction000166854
      WBInteraction000168135
      WBInteraction000173541
      WBInteraction000175555
      WBInteraction000175556
      WBInteraction000200080
      WBInteraction000200085
      WBInteraction000222938
      WBInteraction000257540
      WBInteraction000306821
      WBInteraction000325767
      WBInteraction000339805
      WBInteraction000345193
      WBInteraction000363206
      WBInteraction000380093
      WBInteraction000380096
      WBInteraction000397835
      WBInteraction000413742
      WBInteraction000429508
      WBInteraction000459691
      WBInteraction000500638
      WBInteraction000500639
      WBInteraction000500640
      WBInteraction000500641
      WBInteraction000500642
      WBInteraction000500643
      WBInteraction000500644
      WBInteraction000500883
      WBInteraction000500884
      WBInteraction000501057
      WBInteraction000501059
      WBInteraction000501061
      WBInteraction000501062
      WBInteraction000501064
      WBInteraction000501065
      WBInteraction000501066
      WBInteraction000501067
      WBInteraction000501068
      WBInteraction000501069
      WBInteraction000501070
      WBInteraction000501071
      WBInteraction000501072
      WBInteraction000501073
      WBInteraction000501074
      WBInteraction000501075
      WBInteraction000501076
      WBInteraction000501077
      WBInteraction000501078
      WBInteraction000501079
      WBInteraction000501080
      WBInteraction000501328
      WBInteraction000501716
      WBInteraction000501717
      WBInteraction000501798
      WBInteraction000501799
      WBInteraction000501800
      WBInteraction000501813
      WBInteraction000502022
      WBInteraction000502023
      WBInteraction000502024
      WBInteraction000518534
      WBInteraction000519070
      WBInteraction000519362
      WBInteraction000525010
      WBInteraction000534935
      WBInteraction000534936
      WBInteraction000541567
      WBInteraction000541652
      WBInteraction000549792
      WBInteraction000549960
      WBInteraction000550312
      WBInteraction000550314
      WBInteraction000550316
      WBInteraction000551282
      WBInteraction000556731
      WBInteraction000556755
      WBInteraction000557646
      WBInteraction000557647
      WBInteraction000561013
      WBInteraction000561296
      WBInteraction000561297
      WBInteraction000561334
      WBInteraction000561335
      WBInteraction000561336
      WBInteraction000561337
      WBInteraction000561338
      WBInteraction000561339
      WBInteraction000561340
      WBInteraction000561341
      WBInteraction000571578
    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 (2)
      Multi_point: 277
        426
        1206
        1544
        1545
        5059
      Pos_neg_data: 534
        535
        537
        538
        539
        1848
        1919
        2188
        2332
        3639
  Reference (377)
  Method: Gene