Human Gene TMEM231 (ENST00000258173.11_7) from GENCODE V47lift37
  Description: transmembrane protein 231, transcript variant 2 (from RefSeq NM_001077418.3)
Gencode Transcript: ENST00000258173.11_7
Gencode Gene: ENSG00000205084.12_15
Transcript (Including UTRs)
   Position: hg19 chr16:75,570,639-75,590,150 Size: 19,512 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr16:75,573,892-75,590,107 Size: 16,216 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:75,570,639-75,590,150)mRNA (may differ from genome)Protein (316 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TM231_HUMAN
DESCRIPTION: RecName: Full=Transmembrane protein 231;
FUNCTION: Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).
SUBUNIT: Part of the tectonic-like complex (also named B9 complex) (By similarity).
SUBCELLULAR LOCATION: Cell projection, cilium membrane; Multi-pass membrane protein (By similarity). Note=Localizes to the transition zone of primary cilia; SEPT2 is required for localization to the transition zone (By similarity).
SIMILARITY: Belongs to the TMEM231 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TMEM231
Diseases sorted by gene-association score: meckel syndrome 11* (1229), joubert syndrome 20* (1229), tmem231-related meckel syndrome* (500), joubert syndrome and related disorders* (400), tmem231-related joubert syndrome* (400), joubert syndrome with oculorenal anomalies* (175), meckel syndrome 1* (122), encephalocele (6), orofaciodigital syndrome vi (6), joubert syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.42 RPKM in Testis
Total median expression: 271.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.5043-0.384 Picture PostScript Text
3' UTR -1260.573253-0.388 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019306 - TMEM231

Pfam Domains:
PF10149 - Transmembrane protein 231

ModBase Predicted Comparative 3D Structure on Q9H6L2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007224 smoothened signaling pathway
GO:0030030 cell projection organization
GO:0032880 regulation of protein localization
GO:0060271 cilium assembly

Cellular Component:
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0035869 ciliary transition zone
GO:0036038 MKS complex
GO:0042995 cell projection
GO:0060170 ciliary membrane


-  Descriptions from all associated GenBank mRNAs
  AK298994 - Homo sapiens cDNA FLJ59593 complete cds.
AF176838 - Homo sapiens intestine N-acetylglucosamine 6-O-sulfotransferase (I-GlcNAc-6-ST) mRNA, complete cds.
JD306542 - Sequence 287566 from Patent EP1572962.
JD169883 - Sequence 150907 from Patent EP1572962.
JD529545 - Sequence 510569 from Patent EP1572962.
JD557485 - Sequence 538509 from Patent EP1572962.
JD430382 - Sequence 411406 from Patent EP1572962.
JD169884 - Sequence 150908 from Patent EP1572962.
JD529546 - Sequence 510570 from Patent EP1572962.
JD557486 - Sequence 538510 from Patent EP1572962.
JD430383 - Sequence 411407 from Patent EP1572962.
JD306541 - Sequence 287565 from Patent EP1572962.
JD092549 - Sequence 73573 from Patent EP1572962.
JD169882 - Sequence 150906 from Patent EP1572962.
JD083890 - Sequence 64914 from Patent EP1572962.
JD411917 - Sequence 392941 from Patent EP1572962.
JD146670 - Sequence 127694 from Patent EP1572962.
JD538625 - Sequence 519649 from Patent EP1572962.
BC016401 - Homo sapiens hypothetical protein FLJ22167, mRNA (cDNA clone IMAGE:3864588), partial cds.
AK096650 - Homo sapiens cDNA FLJ39331 fis, clone OCBBF2016467.
BC063677 - Homo sapiens hypothetical protein FLJ22167, mRNA (cDNA clone IMAGE:4363402), complete cds.
BC010609 - Homo sapiens hypothetical protein FLJ22167, mRNA (cDNA clone MGC:16805 IMAGE:4214587), complete cds.
AK025820 - Homo sapiens cDNA: FLJ22167 fis, clone HRC00584.
AY358612 - Homo sapiens clone DNA80796 ALYE870 (UNQ870) mRNA, complete cds.
AK057689 - Homo sapiens cDNA FLJ33127 fis, clone TRACH2001592.
DQ586411 - Homo sapiens piRNA piR-53523, complete sequence.
AK290483 - Homo sapiens cDNA FLJ77714 complete cds.
CU687802 - Synthetic construct Homo sapiens gateway clone IMAGE:100021640 5' read FLJ22167 mRNA.
HQ448069 - Synthetic construct Homo sapiens clone IMAGE:100071449; CCSB012065_01 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5) gene, encodes complete protein.
KJ899539 - Synthetic construct Homo sapiens clone ccsbBroadEn_08933 TMEM231 gene, encodes complete protein.
JF432352 - Synthetic construct Homo sapiens clone IMAGE:100073543 hypothetical protein FLJ22167 (FLJ22167) gene, encodes complete protein.
KJ894689 - Synthetic construct Homo sapiens clone ccsbBroadEn_04083 TMEM231 gene, encodes complete protein.
CU679755 - Synthetic construct Homo sapiens gateway clone IMAGE:100020662 5' read FLJ22167 mRNA.
AK307263 - Homo sapiens cDNA, FLJ97211.
JD140740 - Sequence 121764 from Patent EP1572962.
JD104886 - Sequence 85910 from Patent EP1572962.
JD023974 - Sequence 4998 from Patent EP1572962.
JD023367 - Sequence 4391 from Patent EP1572962.
JD035021 - Sequence 16045 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0JLU1, A6NDZ6, B3KU85, ENST00000258173.1, ENST00000258173.10, ENST00000258173.2, ENST00000258173.3, ENST00000258173.4, ENST00000258173.5, ENST00000258173.6, ENST00000258173.7, ENST00000258173.8, ENST00000258173.9, G5E9E3, NM_001077418, Q6P450, Q6UWW5, Q9H6L2, TM231_HUMAN, uc317gbm.1, uc317gbm.2, UNQ870/PRO1886
UCSC ID: ENST00000258173.11_7
RefSeq Accession: NM_001077418.3
Protein: Q9H6L2 (aka TM231_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TMEM231:
joubert (Joubert Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.