|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| # | Reference Title | Reference Citation |
| 1. | The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. | Abdelhamed ZA, etal., Dis Model Mech. 2015 Jun;8(6):527-41. doi: 10.1242/dmm.019083. Epub 2015 Apr 7. |
| 2. | The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. | Baala L, etal., Am J Hum Genet. 2007 Jan;80(1):186-94. Epub 2006 Nov 15. |
| 3. | MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. | Brancati F, etal., Hum Mutat. 2009 Feb;30(2):E432-42. doi: 10.1002/humu.20924. |
| 4. | Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. | Consugar MB, etal., Hum Genet. 2007 Jun;121(5):591-9. Epub 2007 Mar 22. |
| 5. | A mouse model for Meckel syndrome type 3. | Cook SA, etal., J Am Soc Nephrol. 2009 Apr;20(4):753-64. doi: 10.1681/ASN.2008040412. Epub 2009 Feb 11. |
| 6. | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). | Doherty D, etal., J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1. |
| 7. | Prospective Evaluation of Kidney Disease in Joubert Syndrome. | Fleming LR, etal., Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16. |
| 8. | Development of multiorgan pathology in the wpk rat model of polycystic kidney disease. | Gattone VH, etal., Anat Rec A Discov Mol Cell Evol Biol. 2004 Apr;277(2):384-95. doi: 10.1002/ar.a.20022. |
| 9. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 10. | Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. | Khaddour R, etal., Hum Mutat. 2007 May;28(5):523-4. |
| 11. | Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. | Leitch CC, etal., Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9. |
| 12. | New rat model that phenotypically resembles autosomal recessive polycystic kidney disease. | Nauta J, etal., J Am Soc Nephrol 2000 Dec;11(12):2272-84. |
| 13. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 14. | Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). | Otto EA, etal., J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8. |
| 15. | Renal cystic disease proteins play critical roles in the organization of the olfactory epithelium. | Pluznick JL, etal., PLoS One. 2011;6(5):e19694. doi: 10.1371/journal.pone.0019694. Epub 2011 May 13. |
| 16. | GOA pipeline | RGD automated data pipeline |
| 17. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 18. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 19. | Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. | Seeman T, etal., Pediatr Nephrol. 2010 Nov;25(11):2375-6. doi: 10.1007/s00467-010-1591-1. Epub 2010 Jul 6. |
| 20. | Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation. | Shim JW, etal., Sci Rep. 2019 Jan 31;9(1):1069. doi: 10.1038/s41598-018-37620-5. |
| 21. | The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. | Smith UM, etal., Nat Genet. 2006 Feb;38(2):191-6. Epub 2006 Jan 15. |
| 22. | Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center. | Strongin A, etal., J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):428-435. doi: 10.1097/MPG.0000000000001816. |
| 23. | Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. | Szabó T, etal., Pediatr Nephrol. 2018 Oct;33(10):1713-1721. doi: 10.1007/s00467-018-3992-5. Epub 2018 Jun 28. |
| 24. | Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. | Szymanska K, etal., Cilia. 2012 Oct 1;1(1):18. doi: 10.1186/2046-2530-1-18. |
| 25. | Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. | Tammachote R, etal., Hum Mol Genet. 2009 Sep 1;18(17):3311-23. doi: 10.1093/hmg/ddp272. Epub 2009 Jun 10. |
| 26. | Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome. | Tiwari S, etal., PLoS One. 2013;8(3):e59306. doi: 10.1371/journal.pone.0059306. Epub 2013 Mar 13. |
| 27. | Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C. | Wang M, etal., J Biol Chem. 2009 Nov 27;284(48):33377-83. doi: 10.1074/jbc.M109.034371. Epub 2009 Oct 8. |
| 28. | A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. | Zhang M, etal., Int J Clin Exp Pathol. 2015 May 1;8(5):5379-86. eCollection 2015. |
| PMID:15057822 | PMID:17185389 | PMID:21725307 | PMID:22121117 | PMID:25807483 | PMID:26595381 |
| Tmem67 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TMEM67 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tmem67 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tmem67 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TMEM67 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TMEM67 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tmem67 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TMEM67 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TMEM67 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tmem67 (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tmem67 (Rattus rattus - black rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
.
Variants in Tmem67
359 total Variants
|
| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
||||||||
| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| RH136782 |
|
||||||||||||||||||||||||||||||||||||||||
| RH137862 |
|
||||||||||||||||||||||||||||||||||||||||
| BI275220 |
|
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 165 | 91 | 90 | 59 | 80 | 59 | 6 | 343 | 180 | 11 | 144 | 80 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001107916 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_039109808 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039109810 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039109811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_005504430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_005504431 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | CH473962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| JAXUCZ010000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000021839 ⟹ ENSRNOP00000021839 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000123779 ⟹ ENSRNOP00000107096 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001107916 ⟹ NP_001101386 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_039109808 ⟹ XP_038965736 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_039109810 ⟹ XP_038965738 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_039109811 ⟹ XP_038965739 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XR_005504430 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XR_005504431 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
|
| Protein RefSeqs | NP_001101386 | (Get FASTA) | NCBI Sequence Viewer |
| XP_038965736 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038965738 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038965739 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | EDL98448 | (Get FASTA) | NCBI Sequence Viewer |
| EDL98449 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL98450 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL98451 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL98452 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000021839 | ||
| GenBank Protein | P0C152 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001101386 ⟸ NM_001107916 |
| - Peptide Label: | precursor |
| - UniProtKB: | P0C152 (UniProtKB/Swiss-Prot), F1M947 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000021839 ⟸ ENSRNOT00000021839 |
| RefSeq Acc Id: | XP_038965736 ⟸ XM_039109808 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A6II79 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038965739 ⟸ XM_039109811 |
| - Peptide Label: | isoform X3 |
| RefSeq Acc Id: | XP_038965738 ⟸ XM_039109810 |
| - Peptide Label: | isoform X2 |
| Ensembl Acc Id: | ENSRNOP00000107096 ⟸ ENSRNOT00000123779 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-P0C152-F1-model_v2 | AlphaFold | P0C152 | 1-992 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13693570 | ||||||||
| Promoter ID: | EPDNEW_R4095 | ||||||||
| Type: | initiation region | ||||||||
| Name: | Tmem67_1 | ||||||||
| Description: | transmembrane protein 67 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1586167 | AgrOrtholog |
| BioCyc Gene | G2FUF-41913 | BioCyc |
| Ensembl Genes | ENSRNOG00000016187 | Ensembl, ENTREZGENE |
| Ensembl Transcript | ENSRNOT00000021839 | ENTREZGENE |
| InterPro | Growth_fac_rcpt_cys_sf | UniProtKB/Swiss-Prot |
| Meckelin | UniProtKB/Swiss-Prot | |
| NCBI Gene | 313067 | ENTREZGENE |
| PANTHER | MECKELIN | UniProtKB/Swiss-Prot |
| PTHR21274 | UniProtKB/Swiss-Prot | |
| Pfam | Meckelin | UniProtKB/Swiss-Prot |
| PhenoGen | Tmem67 | PhenoGen |
| RatGTEx | ENSRNOG00000016187 | RatGTEx |
| Superfamily-SCOP | SSF57184 | UniProtKB/Swiss-Prot |
| UniProt | A0ABK0LSX0_RAT | UniProtKB/TrEMBL |
| A6II79 | ENTREZGENE, UniProtKB/TrEMBL | |
| F1M947 | ENTREZGENE, UniProtKB/TrEMBL | |
| MKS3_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2008-03-05 | Tmem67 | transmembrane protein 67 | LOC313067 | similar to transmembrane protein 67 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-11-19 | LOC313067 | similar to transmembrane protein 67 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |