Human Gene TMEM237 (uc021vvg.2)
  Description: Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA.
RefSeq Summary (NM_001044385): The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].
Transcript (Including UTRs)
   Position: hg19 chr2:202,484,907-202,508,252 Size: 23,346 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr2:202,488,978-202,508,123 Size: 19,146 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:202,484,907-202,508,252)mRNA (may differ from genome)Protein (408 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TM237_HUMAN
DESCRIPTION: RecName: Full=Transmembrane protein 237; AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein;
FUNCTION: Component of the transition zone in primary cilia. Required for ciliogenesis.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). Cell projection, cilium. Note=Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L.
DISEASE: Defects in TMEM237 are the cause of Joubert syndrome type 14 (JBTS14) [MIM:614424]. An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable JBTS14 features include renal disease, abnormal eye movements, and postaxial polydactyly.
SIMILARITY: Belongs to the TMEM237 family.
SEQUENCE CAUTION: Sequence=AAY14694.1; Type=Erroneous gene model prediction; Sequence=AAY15056.1; Type=Erroneous gene model prediction;

-  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: TMEM237
Diseases sorted by gene-association score: joubert syndrome 14* (929), tmem237-related joubert syndrome* (500), joubert syndrome 1* (313), joubert syndrome with oculorenal anomalies* (247), joubert syndrome with renal anomalies* (247), amyotrophic lateral sclerosis 2, juvenile (15), oropharynx cancer (5), meckel syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 9.40 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 215.07 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -71.90129-0.557 Picture PostScript Text
3' UTR -1188.034071-0.292 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
  Pfam Domains:
PF15383 - Transmembrane protein 237

ModBase Predicted Comparative 3D Structure on Q96Q45
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

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

Biological Process:
GO:0030030 cell projection organization
GO:0030111 regulation of Wnt signaling pathway
GO:0060271 cilium assembly

Cellular Component:
GO:0005929 cilium
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0035869 ciliary transition zone
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  BC029611 - Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4, mRNA (cDNA clone MGC:39837 IMAGE:5304046), complete cds.
AK090601 - Homo sapiens cDNA FLJ33282 fis, clone ASTRO2009118.
AX746528 - Sequence 53 from Patent EP1308459.
AB053301 - Homo sapiens ALS2CR4 mRNA, complete cds.
AK304395 - Homo sapiens cDNA FLJ58229 complete cds, highly similar to Amyotrophic lateral sclerosis 2 chromosomalregion candidate gene 4 protein.
AK303954 - Homo sapiens cDNA FLJ58225 complete cds, highly similar to Amyotrophic lateral sclerosis 2 chromosomalregion candidate gene 4 protein.
JF432141 - Synthetic construct Homo sapiens clone IMAGE:100073284 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4 (ALS2CR4) gene, encodes complete protein.
KJ899495 - Synthetic construct Homo sapiens clone ccsbBroadEn_08889 TMEM237 gene, encodes complete protein.
CU688718 - Synthetic construct Homo sapiens gateway clone IMAGE:100019237 5' read ALS2CR4 mRNA.
AK125841 - Homo sapiens cDNA FLJ43853 fis, clone TESTI4006819, moderately similar to Alpha enolase (EC 4.2.1.11).
AK022836 - Homo sapiens cDNA FLJ12774 fis, clone NT2RP2001663, moderately similar to ENOLASE (EC 4.2.1.11).
BX538000 - Homo sapiens mRNA; cDNA DKFZp313L091 (from clone DKFZp313L091).
BC013730 - Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4, mRNA (cDNA clone IMAGE:3861305), partial cds.
JD310443 - Sequence 291467 from Patent EP1572962.
JD214737 - Sequence 195761 from Patent EP1572962.
JD565439 - Sequence 546463 from Patent EP1572962.
AF212043 - Homo sapiens potential LAG1 interactor mRNA, partial cds.
JD435277 - Sequence 416301 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ALS2CR4, B4E1R8, B4E2R8, CCDS46489, E9PAR8, E9PBF8, E9PG24, E9PGX0, NM_001044385, NP_001037850, Q53TS9, Q53TT2, Q7Z3B6, Q8IZ18, Q8NBF8, Q96CY1, Q96Q45, TM237_HUMAN, uc021vvg.1
UCSC ID: uc021vvg.2
RefSeq Accession: NM_001044385
Protein: Q96Q45 (aka TM237_HUMAN)
CCDS: CCDS46489.1, CCDS46490.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TMEM237:
joubert (Joubert Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: CCDS46489.1
exon count: 13CDS single in 3' UTR: no RNA size: 5427
ORF size: 1227CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2654.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.