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Aliases for TMEM237 Gene

Aliases for TMEM237 Gene

  • Transmembrane Protein 237 2 3 5
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 4 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 4 2 3
  • ALS2CR4 3 4
  • JBTS14 3

External Ids for TMEM237 Gene

Previous HGNC Symbols for TMEM237 Gene

  • ALS2CR4

Previous GeneCards Identifiers for TMEM237 Gene

  • GC02M202484

Summaries for TMEM237 Gene

Entrez Gene Summary for TMEM237 Gene

  • 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]

GeneCards Summary for TMEM237 Gene

TMEM237 (Transmembrane Protein 237) is a Protein Coding gene. Diseases associated with TMEM237 include Joubert Syndrome 14 and Joubert Syndrome 1.

UniProtKB/Swiss-Prot for TMEM237 Gene

  • Component of the transition zone in primary cilia. Required for ciliogenesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM237 Gene

Genomics for TMEM237 Gene

Regulatory Elements for TMEM237 Gene

Enhancers for TMEM237 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TMEM237 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM237 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMEM237 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM237 Gene

Chromosome:
2
Start:
201,620,184 bp from pter
End:
201,643,570 bp from pter
Size:
23,387 bases
Orientation:
Minus strand

Genomic View for TMEM237 Gene

Genes around TMEM237 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM237 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM237 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM237 Gene

Proteins for TMEM237 Gene

  • Protein details for TMEM237 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96Q45-TM237_HUMAN
    Recommended name:
    Transmembrane protein 237
    Protein Accession:
    Q96Q45
    Secondary Accessions:
    • B4E1R8
    • B4E2R8
    • E9PAR8
    • E9PBF8
    • E9PG24
    • E9PGX0
    • Q53TS9
    • Q53TT2
    • Q7Z3B6
    • Q8IZ18
    • Q8NBF8
    • Q96CY1

    Protein attributes for TMEM237 Gene

    Size:
    408 amino acids
    Molecular mass:
    45526 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAY14694.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAY15056.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM237 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM237 Gene

Proteomics data for TMEM237 Gene at MOPED

Post-translational modifications for TMEM237 Gene

  • Ubiquitination at Lys 209
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM237 Gene

No data available for DME Specific Peptides for TMEM237 Gene

Domains & Families for TMEM237 Gene

Protein Domains for TMEM237 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM237 Gene

Graphical View of Domain Structure for InterPro Entry

Q96Q45

UniProtKB/Swiss-Prot:

TM237_HUMAN :
  • Belongs to the TMEM237 family.
Family:
  • Belongs to the TMEM237 family.
genes like me logo Genes that share domains with TMEM237: view

No data available for Gene Families for TMEM237 Gene

Function for TMEM237 Gene

Molecular function for TMEM237 Gene

UniProtKB/Swiss-Prot Function:
Component of the transition zone in primary cilia. Required for ciliogenesis.

Phenotypes for TMEM237 Gene

GenomeRNAi human phenotypes for TMEM237:
genes like me logo Genes that share phenotypes with TMEM237: view

Human Phenotype Ontology for TMEM237 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM237 Gene

Localization for TMEM237 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM237 Gene

Membrane; Multi-pass membrane protein. 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM237 Gene COMPARTMENTS Subcellular localization image for TMEM237 gene
Compartment Confidence
plasma membrane 4
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for TMEM237 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035869 ciliary transition zone IEA,IDA 22152675
genes like me logo Genes that share ontologies with TMEM237: view

Pathways & Interactions for TMEM237 Gene

SuperPathways for TMEM237 Gene

No Data Available

Interacting Proteins for TMEM237 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000386264%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q96Q45-TM237_HUMAN ENSP00000386264 for TMEM237 Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for TMEM237 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM237 Gene

Drugs & Compounds for TMEM237 Gene

No Compound Related Data Available

Transcripts for TMEM237 Gene

Unigene Clusters for TMEM237 Gene

Transmembrane protein 237:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM237 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - - - -
SP2: - -
SP3:
SP4: - -
SP5:
SP6:

Relevant External Links for TMEM237 Gene

GeneLoc Exon Structure for
TMEM237
ECgene alternative splicing isoforms for
TMEM237

Expression for TMEM237 Gene

mRNA expression in normal human tissues for TMEM237 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM237 Gene

This gene is overexpressed in Retina (38.5), Skin (21.2), and Lung (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for TMEM237 Gene



SOURCE GeneReport for Unigene cluster for TMEM237 Gene Hs.12319

genes like me logo Genes that share expression patterns with TMEM237: view

Protein tissue co-expression partners for TMEM237 Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TMEM237 Gene

Orthologs for TMEM237 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM237 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMEM237 35
  • 89.26 (n)
  • 87.82 (a)
TMEM237 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM237 35
  • 88.86 (n)
  • 86.49 (a)
TMEM237 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem237 35
  • 84.51 (n)
  • 84.07 (a)
Tmem237 16
Tmem237 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALS2CR4 35
  • 99.59 (n)
  • 99.51 (a)
ALS2CR4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem237 35
  • 84.88 (n)
  • 84.54 (a)
oppossum
(Monodelphis domestica)
Mammalia TMEM237 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM237 36
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM237 35
  • 69.53 (n)
  • 69.44 (a)
TMEM237 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM237 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5406 35
tmem237 35
  • 65.96 (n)
  • 62.67 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4012 35
zebrafish
(Danio rerio)
Actinopterygii sbcb992 35
tmem237a 35
  • 63.28 (n)
  • 58.81 (a)
tmem237a 36
  • 52 (a)
OneToMany
tmem237b 36
  • 50 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13053 35
Species with no ortholog for TMEM237:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM237 Gene

ENSEMBL:
Gene Tree for TMEM237 (if available)
TreeFam:
Gene Tree for TMEM237 (if available)

Paralogs for TMEM237 Gene

(3) SIMAP similar genes for TMEM237 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TMEM237: view

No data available for Paralogs for TMEM237 Gene

Variants for TMEM237 Gene

Sequence variations from dbSNP and Humsavar for TMEM237 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_067019 -
rs1914261 -- 201,628,781(+) AGACT(A/C)TCCCT intron-variant
rs1208080 -- 201,637,616(-) caggc(A/G)catgc intron-variant
rs1208081 -- 201,636,725(-) GGTTA(A/G)GTTGT intron-variant
rs1208082 -- 201,632,863(-) GGAAG(G/T)CATAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM237 Gene

Variant ID Type Subtype PubMed ID
nsv875709 CNV Gain 21882294

Variation tolerance for TMEM237 Gene

Residual Variation Intolerance Score: 72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.58; 65.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM237 Gene

Human Gene Mutation Database (HGMD)
TMEM237

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM237 Gene

Disorders for TMEM237 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TMEM237 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 14
  • jbts14
joubert syndrome 1
  • joubert syndrome
joubert syndrome with renal anomalies
  • joubert syndrome 4
joubert syndrome with oculorenal anomalies
  • joubert syndrome 5
tmem237-related joubert syndrome
  • joubert syndrome 14
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TM237_HUMAN
  • Joubert syndrome 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 features include renal disease, abnormal eye movements, and postaxial polydactyly. {ECO:0000269 PubMed:22152675}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMEM237

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM237
genes like me logo Genes that share disorders with TMEM237: view

No data available for Genatlas for TMEM237 Gene

Publications for TMEM237 Gene

  1. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S. … Ikeda J.-E. (Nat. Genet. 2001) 2 3 4 67
  2. Deciphering the structure and function of Als2cr4 in the mouse retina. (PMID: 20375344) Zuniga F.I. … Craft C.M. (Invest. Ophthalmol. Vis. Sci. 2010) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3

Products for TMEM237 Gene

Sources for TMEM237 Gene

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