Tmem67 (transmembrane protein 67) - Rat Genome Database

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Gene: Tmem67 (transmembrane protein 67) Mus musculus
Analyze
Symbol: Tmem67
Name: transmembrane protein 67
RGD ID: 1316347
MGI Page MGI
Description: Predicted to enable filamin binding activity; misfolded protein binding activity; and unfolded protein binding activity. Involved in several processes, including epithelial tube branching involved in lung morphogenesis; negative regulation of centrosome duplication; and non-canonical Wnt signaling pathway. Acts upstream of or within determination of left/right symmetry; heart development; and kidney development. Located in cytoplasmic vesicle membrane and endoplasmic reticulum membrane. Part of MKS complex. Is expressed in diencephalon; hindbrain lateral wall; metanephros; and organ of Corti. Used to study Joubert syndrome 6; Meckel syndrome; cystic kidney disease; and visceral heterotaxy. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis (multiple). Orthologous to human TMEM67 (transmembrane protein 67).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 5330408M12Rik; B230117O07; b2b1163.1Clo; b2b1291.1Clo; meckel syndrome type 3 protein homolog; Meckelin; RIKEN cDNA 5330408M12 gene; RP23-203A12.5
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39412,039,355 - 12,090,020 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl412,039,363 - 12,090,020 (-)EnsemblGRCm39 Ensembl
GRCm38412,039,355 - 12,090,020 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl412,039,355 - 12,090,020 (-)EnsemblGRCm38mm10GRCm38
MGSCv37411,966,502 - 12,015,104 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36411,966,792 - 12,015,104 (-)NCBIMGSCv36mm8
Celera411,852,088 - 11,951,004 (-)NCBICelera
Cytogenetic Map4A1NCBI
cM Map45.56NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal basal ganglion morphology  (IAGP)
abnormal brain ependyma motile cilium morphology  (IAGP)
abnormal centrosome morphology  (IAGP)
abnormal cilium morphology  (IAGP)
abnormal corpus callosum morphology  (IAGP)
abnormal dorsal-ventral axis patterning  (IAGP)
abnormal embryonic neuroepithelium morphology  (IAGP)
abnormal embryonic tissue morphology  (IAGP)
abnormal forebrain development  (IAGP)
abnormal hepatobiliary system development  (IAGP)
abnormal midbrain development  (IAGP)
abnormal nervous system morphology  (IAGP)
abnormal neural fold morphology  (IAGP)
abnormal neural tube morphology  (IAGP)
abnormal neural tube ventricular layer morphology  (IAGP)
abnormal posterior cranial fossa morphology  (IAGP)
abnormal renal tubule epithelial cell primary cilium morphology  (IAGP)
abnormal roof plate morphology  (IAGP)
abnormal tegmentum morphology  (IAGP)
absent anterior commissure  (IAGP)
absent embryonic cilia  (IAGP)
atrioventricular septal defect  (IEA)
cerebellum vermis hypoplasia  (IAGP)
decreased forebrain size  (IAGP)
decreased hindbrain size  (IAGP)
dilated fourth ventricle  (IAGP)
double outlet right ventricle  (IEA)
encephalomeningocele  (IAGP)
enlarged hippocampus  (IAGP)
exencephaly  (IAGP)
heart right ventricle hypoplasia  (IEA)
heterotaxia  (IEA)
incomplete rostral neuropore closure  (IAGP)
increased exploration in new environment  (IEA)
increased forebrain size  (IAGP)
increased grip strength  (IEA)
interrupted aortic arch  (IEA)
kidney cyst  (IAGP)
mandible hypoplasia  (IAGP)
meningocele  (IAGP)
microcephaly  (IAGP)
neonatal lethality, incomplete penetrance  (IAGP)
perinatal lethality  (IAGP)
polycystic kidney  (IEA)
postnatal growth retardation  (IAGP)
postnatal lethality  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
preweaning lethality, complete penetrance  (IEA)
right-sided stomach  (IEA)
semilobar holoprosencephaly  (IAGP)
situs inversus with levocardia  (IEA)
small cerebellum  (IAGP)
References

References - curated
# 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. 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.
10. 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.
11. MGDs mouse GO annotations MGD data from the GO Consortium
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. Mouse MP Annotation Import Pipeline RGD automated import pipeline
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. 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.
19. 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.
20. 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.
21. 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.
22. 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.
23. 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.
24. 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.
Additional References at PubMed
PMID:10349636   PMID:11042159   PMID:11076861   PMID:11217851   PMID:12466851   PMID:14610273   PMID:16141072   PMID:16141073   PMID:16751776   PMID:17185389   PMID:19515853   PMID:19596800  
PMID:19815549   PMID:20843830   PMID:21267068   PMID:21725307   PMID:21873635   PMID:22121117   PMID:22247471   PMID:23283079   PMID:23393159   PMID:23456819   PMID:24613594   PMID:25807483  
PMID:26073538   PMID:27002738   PMID:30931988   PMID:34672258   PMID:38355793  


Genomics

Comparative Map Data
Tmem67
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39412,039,355 - 12,090,020 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl412,039,363 - 12,090,020 (-)EnsemblGRCm39 Ensembl
GRCm38412,039,355 - 12,090,020 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl412,039,355 - 12,090,020 (-)EnsemblGRCm38mm10GRCm38
MGSCv37411,966,502 - 12,015,104 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36411,966,792 - 12,015,104 (-)NCBIMGSCv36mm8
Celera411,852,088 - 11,951,004 (-)NCBICelera
Cytogenetic Map4A1NCBI
cM Map45.56NCBI
TMEM67
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38893,754,844 - 93,832,653 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl893,754,844 - 93,819,234 (+)EnsemblGRCh38hg38GRCh38
GRCh37894,767,072 - 94,831,466 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,836,321 - 94,898,323 (+)NCBINCBI36Build 36hg18NCBI36
Celera890,953,124 - 91,017,521 (+)NCBICelera
Cytogenetic Map8q22.1NCBI
HuRef889,974,594 - 90,039,048 (+)NCBIHuRef
CHM1_1894,807,348 - 94,871,742 (+)NCBICHM1_1
T2T-CHM13v2.0894,879,829 - 94,957,683 (+)NCBIT2T-CHM13v2.0
Tmem67
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8530,333,793 - 30,386,702 (-)NCBIGRCr8
mRatBN7.2525,536,458 - 25,589,378 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl525,536,458 - 25,589,334 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx527,679,863 - 27,732,749 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0529,272,610 - 29,325,491 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0529,217,147 - 29,270,042 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0525,666,138 - 25,721,056 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl525,666,137 - 25,721,072 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0530,371,964 - 30,424,943 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4526,324,625 - 26,377,531 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera524,866,083 - 24,918,920 (-)NCBICelera
Cytogenetic Map5q13NCBI
Tmem67
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541710,097,472 - 10,138,644 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541710,097,488 - 10,137,959 (+)NCBIChiLan1.0ChiLan1.0
TMEM67
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27111,086,261 - 111,150,985 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1886,624,847 - 86,687,985 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0890,378,623 - 90,442,904 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1892,324,402 - 92,387,437 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl892,324,402 - 92,387,437 (+)Ensemblpanpan1.1panPan2
TMEM67
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12938,655,531 - 38,715,774 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2938,654,733 - 38,720,559 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2938,817,691 - 38,877,961 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02938,859,810 - 38,920,095 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2938,859,346 - 38,915,876 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12938,873,675 - 38,933,947 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02938,868,253 - 38,928,540 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02939,309,700 - 39,370,424 (+)NCBIUU_Cfam_GSD_1.0
Tmem67
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530340,860,751 - 40,904,822 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365446,887,532 - 6,932,179 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365446,887,867 - 6,931,669 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM67
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl442,879,140 - 42,931,121 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1442,878,249 - 42,931,106 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2446,289,107 - 46,341,896 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM67
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1888,726,783 - 88,818,111 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl888,726,837 - 88,792,049 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603952,056,457 - 52,122,252 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem67
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247631,219,827 - 1,264,071 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247631,219,779 - 1,281,297 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Tmem67
1514 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1402
Count of miRNA genes:657
Interacting mature miRNAs:821
Transcripts:ENSMUST00000050686, ENSMUST00000108293, ENSMUST00000131145, ENSMUST00000146140, ENSMUST00000147746, ENSMUST00000151859
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
10412079Sm1_msusceptibility to Schistosoma mansoni infection 1 (mouse)Not determined4122955614Mouse
11567249Elorr3_methanol induced loss of righting response 3 (mouse)43722677156268235Mouse
1301473Triglq1_mtriglyceride QTL 1 (mouse)Not determined4868324042683429Mouse
11049579Lmr9b_mleishmaniasis resistance 9b (mouse)4120657234Mouse
11049580Lmr9a_mleishmaniasis resistance 9 (mouse)4120657234Mouse
1301510Bbaa13_mB.burgdorferi-associated arthritis 13 (mouse)Not determined4126395649Mouse
1558992Ses8_msalmonella enteritidis susceptibility 8 (mouse)Not determined4868324042683429Mouse
1301274Lmr9_mleishmaniasis resistance 9 (mouse)Not determined4120657234Mouse
1302010Wta1_mweight adult 1 (mouse)Not determined4868324042683429Mouse
4141302Ssrq5_mstress response QTL 5 (mouse)Not determined868324042683430Mouse
1302125Lxw1_mlupus BXSB x NZW 1 (mouse)Not determined4868324042683429Mouse
10401905Sicd3_mseizure-induced cell death 3 (mouse)Not determined4939552543760862Mouse

Markers in Region
AV299215  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38412,096,117 - 12,096,212UniSTSGRCm38
MGSCv37412,023,264 - 12,023,359UniSTSGRCm37
Celera411,900,827 - 11,900,922UniSTS
Cytogenetic Map4A1UniSTS
Whitehead/MRC_RH4349.42UniSTS
UniSTS:234870  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38412,095,917 - 12,096,129UniSTSGRCm38
MGSCv37412,023,064 - 12,023,276UniSTSGRCm37
Celera411,900,627 - 11,900,839UniSTS
Cytogenetic Map4A1UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_177861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_161254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006538007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006538008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_036164188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001784156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK017238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK039177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK042835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK045429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK077246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK084054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK133059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL772167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX634800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ550292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSMUST00000050686   ⟹   ENSMUSP00000052644
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl412,039,355 - 12,087,957 (-)Ensembl
GRCm38.p6 Ensembl412,039,355 - 12,087,957 (-)Ensembl
Ensembl Acc Id: ENSMUST00000108293   ⟹   ENSMUSP00000103928
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl412,039,645 - 12,087,991 (-)Ensembl
GRCm38.p6 Ensembl412,039,645 - 12,090,020 (-)Ensembl
Ensembl Acc Id: ENSMUST00000131145   ⟹   ENSMUSP00000115154
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl412,039,363 - 12,087,991 (-)Ensembl
GRCm38.p6 Ensembl412,039,363 - 12,087,938 (-)Ensembl
Ensembl Acc Id: ENSMUST00000146140
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl412,060,052 - 12,088,007 (-)Ensembl
GRCm38.p6 Ensembl412,060,052 - 12,088,007 (-)Ensembl
Ensembl Acc Id: ENSMUST00000147746
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl412,068,463 - 12,087,927 (-)Ensembl
GRCm38.p6 Ensembl412,068,463 - 12,087,927 (-)Ensembl
Ensembl Acc Id: ENSMUST00000151859
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl412,078,588 - 12,087,932 (-)Ensembl
GRCm38.p6 Ensembl412,078,588 - 12,087,932 (-)Ensembl
Ensembl Acc Id: ENSMUST00000249863   ⟹   ENSMUSP00000159959
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl412,039,645 - 12,090,020 (-)Ensembl
Ensembl Acc Id: ENSMUST00000249864   ⟹   ENSMUSP00000159960
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl412,075,623 - 12,087,991 (-)Ensembl
RefSeq Acc Id: NM_177861   ⟹   NP_808529
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39412,039,359 - 12,087,957 (-)NCBI
GRCm38412,039,359 - 12,087,957 (-)NCBI
MGSCv37411,966,502 - 12,015,104 (-)RGD
Celera411,852,088 - 11,951,054 (-)NCBI
cM Map4 ENTREZGENE
Sequence:
RefSeq Acc Id: NR_110955
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39412,039,355 - 12,088,007 (-)NCBI
GRCm38412,039,355 - 12,088,007 (-)NCBI
Celera411,852,088 - 11,951,054 (-)NCBI
Sequence:
RefSeq Acc Id: NR_161254
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39412,039,359 - 12,087,957 (-)NCBI
GRCm38412,039,359 - 12,087,957 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006538007   ⟹   XP_006538070
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39412,039,644 - 12,089,453 (-)NCBI
GRCm38412,039,644 - 12,089,453 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006538008   ⟹   XP_006538071
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39412,039,355 - 12,088,007 (-)NCBI
GRCm38412,039,362 - 12,088,007 (-)NCBI
Sequence:
RefSeq Acc Id: XM_036164188   ⟹   XP_036020081
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39412,039,355 - 12,087,966 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001784156
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39412,039,355 - 12,090,020 (-)NCBI
GRCm38412,039,355 - 12,090,020 (-)NCBI
Sequence:
RefSeq Acc Id: NP_808529   ⟸   NM_177861
- Peptide Label: precursor
- UniProtKB: Q8BR76 (UniProtKB/Swiss-Prot),   Q78U07 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006538070   ⟸   XM_006538007
- Peptide Label: isoform X1
- UniProtKB: A2AJP5 (UniProtKB/TrEMBL),   E9QNI1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006538071   ⟸   XM_006538008
- Peptide Label: isoform X2
- UniProtKB: Q8BR76 (UniProtKB/Swiss-Prot),   Q78U07 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSMUSP00000103928   ⟸   ENSMUST00000108293
Ensembl Acc Id: ENSMUSP00000115154   ⟸   ENSMUST00000131145
Ensembl Acc Id: ENSMUSP00000052644   ⟸   ENSMUST00000050686
RefSeq Acc Id: XP_036020081   ⟸   XM_036164188
- Peptide Label: isoform X2
- UniProtKB: Q8BR76 (UniProtKB/Swiss-Prot),   Q78U07 (UniProtKB/Swiss-Prot)
Ensembl Acc Id: ENSMUSP00000159959   ⟸   ENSMUST00000249863
Ensembl Acc Id: ENSMUSP00000159960   ⟸   ENSMUST00000249864

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8BR76-F1-model_v2 AlphaFold Q8BR76 1-992 view protein structure

Promoters
RGD ID:6836544
Promoter ID:MM_KWN:36698
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell
Transcripts:ENSMUST00000108291,   OTTMUST00000010341,   UC008SAF.1,   UC008SAG.1,   UC008SAI.1,   UC008SAJ.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36412,014,784 - 12,015,284 (-)MPROMDB
RGD ID:6836542
Promoter ID:MM_KWN:36699
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Kidney,   MEF_B6
Transcripts:OTTMUST00000010338
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36412,016,236 - 12,016,736 (-)MPROMDB
RGD ID:6882838
Promoter ID:EPDNEW_M4870
Type:initiation region
Name:Tmem67_1
Description:Mus musculus transmembrane protein 67 , transcript variant 2,non-coding RNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38412,087,927 - 12,087,987EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1923928 AgrOrtholog
Ensembl Genes ENSMUSG00000049488 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000050686.10 UniProtKB/TrEMBL
  ENSMUST00000108293 ENTREZGENE
  ENSMUST00000108293.3 UniProtKB/TrEMBL
  ENSMUST00000131145 ENTREZGENE
  ENSMUST00000131145.9 UniProtKB/TrEMBL
InterPro Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Meckelin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:329795 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:1923928 ENTREZGENE
NCBI Gene Tmem67 ENTREZGENE
PANTHER MECKELIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21274 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Meckelin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Tmem67 PhenoGen
Superfamily-SCOP SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2AJP5 ENTREZGENE, UniProtKB/TrEMBL
  D6RGQ2_MOUSE UniProtKB/TrEMBL
  E9QNI1 ENTREZGENE, UniProtKB/TrEMBL
  MKS3_MOUSE UniProtKB/Swiss-Prot
  Q78U07 ENTREZGENE
  Q8BR76 ENTREZGENE
  Q8BT65_MOUSE UniProtKB/TrEMBL
UniProt Secondary Q78U07 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2024-08-21 Tmem67  transmembrane protein 67  5330408M12Rik  RIKEN cDNA 5330408M12 gene  Symbol and/or name change 5135510 APPROVED
2024-08-21 5330408M12Rik  RIKEN cDNA 5330408M12 gene  Tmem67  transmembrane protein 67  Symbol and/or name change 5135510 APPROVED