WormBase Tree Display for Gene: WBGene00018042
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| WBGene00018042 | SMap | S_parent | Sequence | F35D2 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | mks-3 | Paper_evidence | WBPaper00035930 | |||||
| Person_evidence | WBPerson2136 | ||||||||
| Sequence_name | F35D2.4 | ||||||||
| Molecular_name | F35D2.4 | ||||||||
| F35D2.4.1 | |||||||||
| CE43559 | |||||||||
| Other_name | CELE_F35D2.4 | Accession_evidence | NDB | BX284602 | |||||
| Public_name | mks-3 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:30:59 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 03 May 2011 09:58:19 | WBPerson2970 | Name_change | CGC_name | mks-3 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | mks | ||||||||
| Allele (40) | |||||||||
| Strain | WBStrain00037005 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00066895 | ||||||||
| 00066896 | |||||||||
| 00066897 | |||||||||
| 00066898 | |||||||||
| 00066899 | |||||||||
| 00123304 | |||||||||
| 00123305 | |||||||||
| Ortholog (35) | |||||||||
| Structured_description | Concise_description | mks-3 encodes a transmembrane domain protein homologous to the human ciliopathy protein MKS-3/tmem67/meckelin; MKS-3 is required for cilia-mediated chemosensory reception and for the normal length of cilia; in regulating cilia organization and function, mks-3 functions in the same pathway as other mks (Meckel-Gruber Syndrome (MKS) homolog genes), including mks-1, but in parallel to the nphp (nephronophthisis (human kidney disease) homolog) genes, nphp-1 and nphp-4; mks-1;nphp-4 double mutants also display cell autonomous defects in connections between sheath and socket cells; MKS-3 is expressed in ciliated sensory neurons where it localizes to the distal end of dendrites and the cilium base; mks-3 expression is dependent upon the DAF-19 RFX-type transcription factor. | Paper_evidence | WBPaper00035930 | |||||
| Curator_confirmed | WBPerson1843 | ||||||||
| Date_last_updated | 03 May 2011 00:00:00 | ||||||||
| Automated_description | Involved in non-motile cilium assembly. Located in ciliary transition zone. Expressed in neurons. Used to study Meckel syndrome. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome 14; COACH syndrome; and Joubert syndrome 6. Is an ortholog of human TMEM67 (transmembrane protein 67). | 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:0050778 | Homo sapiens | Paper_evidence | WBPaper00035930 | ||||
| Accession_evidence | OMIM | 249000 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 23 Jan 2012 00:00:00 | ||||||||
| Potential_model | DOID:0111118 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:28396) | |||||
| DOID:0111001 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:28396) | ||||||
| DOID:0070117 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:28396) | ||||||
| DOID:12270 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:28396) | ||||||
| DOID:12712 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:28396) | ||||||
| DOID:0110136 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:28396) | ||||||
| DOID:10762 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:28396) | ||||||
| DOID:0111589 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:28396) | ||||||
| DOID:1935 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:28396) | ||||||
| Models_disease_asserted | WBDOannot00000303 | ||||||||
| WBDOannot00000308 | |||||||||
| WBDOannot00000615 | |||||||||
| Molecular_info | Corresponding_CDS | F35D2.4 | |||||||
| Corresponding_CDS_history | F35D2.4:wp201 | ||||||||
| Corresponding_transcript | F35D2.4.1 | ||||||||
| Other_sequence | Dviv_isotig26090 | ||||||||
| Dviv_isotig31905 | |||||||||
| JI173484.1 | |||||||||
| Associated_feature | WBsf650239 | ||||||||
| WBsf665700 | |||||||||
| WBsf988489 | |||||||||
| WBsf1012556 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00046329 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00031773 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00014325 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr9617 | ||||||||
| Expr10107 | |||||||||
| Expr12860 | |||||||||
| Expr16113 | |||||||||
| Expr1023001 | |||||||||
| Expr1037776 | |||||||||
| Expr1150218 | |||||||||
| Expr2013584 | |||||||||
| Expr2031817 | |||||||||
| Drives_construct | WBCnstr00014178 | ||||||||
| WBCnstr00022910 | |||||||||
| Construct_product | WBCnstr00022910 | ||||||||
| Microarray_results (20) | |||||||||
| Expression_cluster (127) | |||||||||
| Interaction | WBInteraction000211889 | ||||||||
| WBInteraction000219712 | |||||||||
| WBInteraction000310666 | |||||||||
| WBInteraction000310708 | |||||||||
| WBInteraction000340142 | |||||||||
| WBInteraction000358144 | |||||||||
| WBInteraction000401588 | |||||||||
| WBInteraction000547985 | |||||||||
| Map_info | Map | II | Position | 0.504743 | Error | 3.1e-05 | |||
| Positive | Positive_clone | F35D2 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference (13) | |||||||||
| Remark | Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. | CGC_data_submission | |||||||
| Method | Gene |
