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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 Tmem237-Related Joubert Syndrome.

UniProtKB/Swiss-Prot for TMEM237 Gene

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

Additional gene information for TMEM237 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H201431 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +210.8 210769 2 PKNOX1 ARNT DMAP1 TCF12 GATA2 SP5 NCOA1 PPARG KAT8 NFIL3 STRADB ALS2CR12 TMEM237 RNU6-651P ALS2 ENSG00000202008 TRAK2
GH02H202632 1.6 Ensembl ENCODE dbSUPER 10 -991.8 -991830 6 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FAM117B RAPH1 ENSG00000273209 TMEM237 CARF DAZAP2P1 GC02P202671
GH02H201695 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10 -54.2 -54240 5 GATA3 JUND POLR2A JUN FOS NR2F2 ALS2 TMEM237 RNU6-651P MPP4
GH02H201070 1.2 ENCODE 10 +571.7 571711 2 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 ZC3H11A NFYC MEF2D ORC2 CLK1 CDK15 KCTD18 CFLAR-AS1 MPP4 ENSG00000273209 SPATS2L TMEM237 PPIL3
GH02H201404 1.2 Ensembl ENCODE 9.9 +237.9 237872 2 ARNT BRCA1 ATF7 RUNX3 REST ZNF592 KAT8 NFIL3 ATF4 SMARCA4 CASP8 PPIL3 TRAK2 ALS2CR12 RNU6-651P TMEM237 LOC100420110 STRADB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000128835 770 2001 ATF1 ARID4B SIN3A DMAP1 GLIS2 ZNF143 ZNF207 ATF7 RUNX3 ZHX2

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

Post-translational modifications for TMEM237 Gene

  • Ubiquitination at posLast=209209
  • 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

Gene Families for TMEM237 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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

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 From GWAS Catalog for TMEM237 Gene

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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM237
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0035869 ciliary transition zone IDA,IEA 22152675
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with TMEM237: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM237 Gene

Pathways & Interactions for TMEM237 Gene

SuperPathways for TMEM237 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM237 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0030111 regulation of Wnt signaling pathway IMP,IEA 22152675
GO:0060271 cilium assembly IEA,IMP 22152675
genes like me logo Genes that share ontologies with TMEM237: view

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM237
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for TMEM237 Gene



Protein tissue co-expression partners for TMEM237 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM237 Gene:

TMEM237

SOURCE GeneReport for Unigene cluster for TMEM237 Gene:

Hs.12319

Evidence on tissue expression from TISSUES for TMEM237 Gene

  • Nervous system(4.5)
  • Skin(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM237 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • diaphragm
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • kidney
  • liver
Pelvis:
  • penis
  • ureter
  • urinary bladder
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with TMEM237: view

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
chimpanzee
(Pan troglodytes)
Mammalia ALS2CR4 33 34
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia TMEM237 33 34
  • 89.26 (n)
dog
(Canis familiaris)
Mammalia TMEM237 33 34
  • 88.86 (n)
rat
(Rattus norvegicus)
Mammalia Tmem237 33
  • 84.88 (n)
mouse
(Mus musculus)
Mammalia Tmem237 33 16 34
  • 84.51 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM237 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM237 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM237 33 34
  • 69.53 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM237 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem237 33
  • 65.96 (n)
Str.5406 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4012 33
zebrafish
(Danio rerio)
Actinopterygii tmem237a 33 34
  • 63.28 (n)
tmem237b 34
  • 50 (a)
OneToMany
sbcb992 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13053 33
Species where no ortholog for TMEM237 was found in the sources mined by GeneCards:
  • 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
rs199469707 Pathogenic 201,640,915(-) CTCCA(C/T)GAGCT reference, stop-gained
rs387907131 Pathogenic 201,640,264(-) TTAGT(C/T)AAGGT reference, stop-gained
rs748510210 Pathogenic 201,628,075(+) ACTCA(A/C)AGAAA splice-donor-variant
rs751952525 Pathogenic 201,626,118(+) TGGCT(-/G)GGAGA reference, frameshift-variant
rs793888505 Pathogenic 201,629,728(-) TTCAG(G/T)TGGCT splice-donor-variant

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

Variant ID Type Subtype PubMed ID
esv3584274 CNV loss 25503493

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM237

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

Disorders for TMEM237 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
joubert syndrome 14
  • jbts14
tmem237-related joubert syndrome
  • joubert syndrome 14
joubert syndrome 1
  • joubert syndrome
joubert syndrome with oculorenal anomalies
  • joubert syndrome 5
joubert syndrome with renal anomalies
  • joubert syndrome 4
- 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 JE (Nature genetics 2001) 2 3 4 60
  2. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. (PMID: 22152675) Huang L … Boycott KM (American journal of human genetics 2011) 3 4 60
  3. Deciphering the structure and function of Als2cr4 in the mouse retina. (PMID: 20375344) Zuniga FI … Craft CM (Investigative ophthalmology & visual science 2010) 2 3 60
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for TMEM237 Gene

Sources for TMEM237 Gene

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