Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TMEM67 (transmembrane protein 67)

Identity

Alias (NCBI)JBTS6
MECKELIN
MKS3
NPHP11
TNEM67
HGNC (Hugo) TMEM67
HGNC Alias symbMGC26979
JBTS6
NPHP11
HGNC Alias nameMeckelin
HGNC Previous nameMKS3
HGNC Previous nameMeckel syndrome, type 3
LocusID (NCBI) 91147
Atlas_Id 54715
Location 8q22.1  [Link to chromosome band 8q22]
Location_base_pair Starts at 93754894 and ends at 93818121 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AGAP2 (12q14.1) / TMEM67 (8q22.1)ANXA4 (2p13.3) / TMEM67 (8q22.1)HNRNPD (4q21.22) / TMEM67 (8q22.1)
TMEM67 (8q22.1) / STMN2 (8q21.13)AGAP2 12q14.1 / TMEM67 8q22.1TMEM67 8q22.1 / STMN2 8q21.13

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(2;8)(p13;q22) ANXA4/TMEM67
t(8;8)(q21;q22) TMEM67/STMN2
t(8;12)(q22;q14) AGAP2/TMEM67

External links

Nomenclature
HGNC (Hugo)TMEM67   28396
LRG (Locus Reference Genomic)LRG_688
Cards
Entrez_Gene (NCBI)TMEM67    transmembrane protein 67
AliasesJBTS6; MECKELIN; MKS3; NPHP11; 
TNEM67
GeneCards (Weizmann)TMEM67
Ensembl hg19 (Hinxton)ENSG00000164953 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164953 [Gene_View]  ENSG00000164953 [Sequence]  chr8:93754894-93818121 [Contig_View]  TMEM67 [Vega]
ICGC DataPortalENSG00000164953
TCGA cBioPortalTMEM67
AceView (NCBI)TMEM67
Genatlas (Paris)TMEM67
SOURCE (Princeton)TMEM67
Genetics Home Reference (NIH)TMEM67
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM67  -     chr8:93754894-93818121 +  8q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM67  -     8q22.1   [Description]    (hg19-Feb_2009)
GoldenPathTMEM67 - 8q22.1 [CytoView hg19]  TMEM67 - 8q22.1 [CytoView hg38]
ImmunoBaseENSG00000164953
genome Data Viewer NCBITMEM67 [Mapview hg19]  
OMIM216360   602152   607361   609884   610688   613550   615991   
Gene and transcription
Genbank (Entrez)AK026742 AK092244 AK094935 AK297676 AK308071
RefSeq transcript (Entrez)NM_001142301 NM_153704
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM67
Alternative Splicing GalleryENSG00000164953
Gene ExpressionTMEM67 [ NCBI-GEO ]   TMEM67 [ EBI - ARRAY_EXPRESS ]   TMEM67 [ SEEK ]   TMEM67 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM67 [ Firebrowse - Broad ]
GenevisibleExpression of TMEM67 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91147
GTEX Portal (Tissue expression)TMEM67
Human Protein AtlasENSG00000164953-TMEM67 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5HYA8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5HYA8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5HYA8
Splice isoforms : SwissVarQ5HYA8
PhosPhoSitePlusQ5HYA8
Domains : Interpro (EBI)Growth_fac_rcpt_cys_sf    Meckelin   
Domain families : Pfam (Sanger)Meckelin (PF09773)   
Domain families : Pfam (NCBI)pfam09773   
Conserved Domain (NCBI)TMEM67
Blocks (Seattle)TMEM67
SuperfamilyQ5HYA8
Human Protein Atlas [tissue]ENSG00000164953-TMEM67 [tissue]
Peptide AtlasQ5HYA8
HPRD11324
IPIIPI00217830   IPI00746257   IPI00916413   IPI00916545   IPI00736378   IPI00917333   IPI00980860   IPI00980179   IPI00974185   IPI00981325   IPI00979473   IPI00980618   
Protein Interaction databases
DIP (DOE-UCLA)Q5HYA8
IntAct (EBI)Q5HYA8
BioGRIDTMEM67
STRING (EMBL)TMEM67
ZODIACTMEM67
Ontologies - Pathways
QuickGOQ5HYA8
Ontology : AmiGOprotein binding  endoplasmic reticulum membrane  centrosome  negative regulation of centrosome duplication  integral component of membrane  ubiquitin-dependent ERAD pathway  cytoplasmic vesicle membrane  filamin binding  ciliary transition zone  MKS complex  unfolded protein binding  ciliary membrane  ciliary membrane  cilium assembly  cilium assembly  ciliary basal body-plasma membrane docking  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum membrane  centrosome  negative regulation of centrosome duplication  integral component of membrane  ubiquitin-dependent ERAD pathway  cytoplasmic vesicle membrane  filamin binding  ciliary transition zone  MKS complex  unfolded protein binding  ciliary membrane  ciliary membrane  cilium assembly  cilium assembly  ciliary basal body-plasma membrane docking  
NDEx NetworkTMEM67
Atlas of Cancer Signalling NetworkTMEM67
Wikipedia pathwaysTMEM67
Orthology - Evolution
OrthoDB91147
GeneTree (enSembl)ENSG00000164953
Phylogenetic Trees/Animal Genes : TreeFamTMEM67
HOGENOMQ5HYA8
Homologs : HomoloGeneTMEM67
Homology/Alignments : Family Browser (UCSC)TMEM67
Gene fusions - Rearrangements
Fusion : MitelmanAGAP2/TMEM67 [12q14.1/8q22.1]  
Fusion : MitelmanANXA4/TMEM67 [2p13.3/8q22.1]  
Fusion : MitelmanTMEM67/STMN2 [8q22.1/8q21.13]  
Fusion PortalAGAP2 12q14.1 TMEM67 8q22.1 GBM
Fusion PortalTMEM67 8q22.1 STMN2 8q21.13 LUAD
Fusion : QuiverTMEM67
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM67 [hg38]
dbVarTMEM67
ClinVarTMEM67
MonarchTMEM67
1000_GenomesTMEM67 
Exome Variant ServerTMEM67
GNOMAD BrowserENSG00000164953
Varsome BrowserTMEM67
Genomic Variants (DGV)TMEM67 [DGVbeta]
DECIPHERTMEM67 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM67 
Mutations
ICGC Data PortalTMEM67 
TCGA Data PortalTMEM67 
Broad Tumor PortalTMEM67
OASIS PortalTMEM67 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM67  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMEM67
Mutations and Diseases : HGMDTMEM67
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TMEM67
DgiDB (Drug Gene Interaction Database)TMEM67
DoCM (Curated mutations)TMEM67 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM67 (select a term)
intoGenTMEM67
Cancer3DTMEM67(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM216360    602152    607361    609884    610688    613550    615991   
Orphanet280    1022    1644    11612   
DisGeNETTMEM67
MedgenTMEM67
Genetic Testing Registry TMEM67
NextProtQ5HYA8 [Medical]
GENETestsTMEM67
Target ValidationTMEM67
Huge Navigator TMEM67 [HugePedia]
ClinGenTMEM67
Clinical trials, drugs, therapy
MyCancerGenomeTMEM67
Protein Interactions : CTD
Pharm GKB GenePA142670780
PharosQ5HYA8
Clinical trialTMEM67
Miscellaneous
canSAR (ICR)TMEM67 (select the gene name)
HarmonizomeTMEM67
DataMed IndexTMEM67
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMEM67
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jan 1 18:41:37 CET 2021
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