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Aliases for TMEM231 Gene

Aliases for TMEM231 Gene

  • Transmembrane Protein 231 2 3
  • JBTS20 3 6
  • MKS11 3 6
  • ALYE870 3
  • PRO1886 3

External Ids for TMEM231 Gene

Previous GeneCards Identifiers for TMEM231 Gene

  • GC16M074130
  • GC16M075572
  • GC16M061325

Summaries for TMEM231 Gene

Entrez Gene Summary for TMEM231 Gene

  • This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

GeneCards Summary for TMEM231 Gene

TMEM231 (Transmembrane Protein 231) is a Protein Coding gene. Diseases associated with TMEM231 include joubert syndrome 20 and meckel syndrome, type 11. An important paralog of this gene is ENSG00000260092.

UniProtKB/Swiss-Prot for TMEM231 Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM231 Gene

Genomics for TMEM231 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TMEM231 Gene

Start:
75,536,744 bp from pter
End:
75,556,286 bp from pter
Size:
19,543 bases
Orientation:
Minus strand

Genomic View for TMEM231 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM231 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM231 Gene

No data available for Regulatory Elements for TMEM231 Gene

Proteins for TMEM231 Gene

  • Protein details for TMEM231 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6L2-TM231_HUMAN
    Recommended name:
    Transmembrane protein 231
    Protein Accession:
    Q9H6L2
    Secondary Accessions:
    • A0JLU1
    • A6NDZ6
    • B3KU85
    • G5E9E3
    • Q6P450
    • Q6UWW5

    Protein attributes for TMEM231 Gene

    Size:
    316 amino acids
    Molecular mass:
    36059 Da
    Quaternary structure:
    • Part of the tectonic-like complex (also named B9 complex).

    Alternative splice isoforms for TMEM231 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM231 Gene

Proteomics data for TMEM231 Gene at MOPED

Post-translational modifications for TMEM231 Gene

  • Ubiquitination at Lys181
  • Glycosylation at Asn194, Asn199, and Asn221
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM231 Gene

Antibody Products

No data available for DME Specific Peptides for TMEM231 Gene

Domains for TMEM231 Gene

Protein Domains for TMEM231 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM231 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H6L2

UniProtKB/Swiss-Prot:

TM231_HUMAN :
  • Q9H6L2
Family:
  • Belongs to the TMEM231 family.
genes like me logo Genes that share domains with TMEM231: view

No data available for Gene Families for TMEM231 Gene

Function for TMEM231 Gene

Molecular function for TMEM231 Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for TMEM231 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TMEM231: view
genes like me logo Genes that share phenotypes with TMEM231: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TMEM231 Gene

Localization for TMEM231 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM231 Gene

Cell projection, cilium membrane; Multi-pass membrane protein. Note=Localizes to the transition zone of primary cilia; SEPT2 is required for localization to the transition zone. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM231 Gene COMPARTMENTS Subcellular localization image for TMEM231 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TMEM231 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0035869 ciliary transition zone ISS --
GO:0036038 TCTN-B9D complex ISS --
GO:0060170 ciliary membrane ISS --
genes like me logo Genes that share ontologies with TMEM231: view

Pathways for TMEM231 Gene

SuperPathways for TMEM231 Gene

No Data Available

Interacting Proteins for TMEM231 Gene

Selected Interacting proteins: Q9H6L2-TM231_HUMAN for TMEM231 Gene via UniProtKB

Gene Ontology (GO) - Biological Process for TMEM231 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway ISS --
GO:0042384 cilium assembly ISS --
genes like me logo Genes that share ontologies with TMEM231: view

No data available for Pathways by source for TMEM231 Gene

Transcripts for TMEM231 Gene

mRNA/cDNA for TMEM231 Gene

(12) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM231 Gene

Transmembrane protein 231:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMEM231

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TMEM231
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM231 Gene

No ASD Table

Relevant External Links for TMEM231 Gene

GeneLoc Exon Structure for
TMEM231
ECgene alternative splicing isoforms for
TMEM231

Expression for TMEM231 Gene

mRNA expression in normal human tissues for TMEM231 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for TMEM231 Gene

SOURCE GeneReport for Unigene cluster for TMEM231 Gene Hs.156784

genes like me logo Genes that share expressions with TMEM231: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TMEM231 Gene

Orthologs for TMEM231 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM231 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM231 35
  • 98 (n)
  • 97.78 (a)
TMEM231 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM231 35
  • 86.6 (n)
  • 87.66 (a)
TMEM231 36
  • 76 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 77 (a)
OneToMany
TMEM231 35
  • 89.03 (n)
  • 90.51 (a)
mouse
(Mus musculus)
Mammalia Tmem231 35
  • 83.92 (n)
  • 85.71 (a)
Tmem231 16
Tmem231 36
  • 76 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 41 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 73 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tmem231 35
  • 84.34 (n)
  • 85.71 (a)
chicken
(Gallus gallus)
Aves TMEM231 35
  • 72.09 (n)
  • 74.58 (a)
TMEM231 36
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem231 35
  • 66.78 (n)
  • 70.07 (a)
zebrafish
(Danio rerio)
Actinopterygii tmem231 35
  • 60.88 (n)
  • 59.18 (a)
tmem231 36
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T26A8.2 36
  • 17 (a)
OneToMany
Species with no ortholog for TMEM231:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for TMEM231 Gene

ENSEMBL:
Gene Tree for TMEM231 (if available)
TreeFam:
Gene Tree for TMEM231 (if available)

Paralogs for TMEM231 Gene

Paralogs for TMEM231 Gene

Pseudogenes.org Pseudogenes for TMEM231 Gene

genes like me logo Genes that share paralogs with TMEM231: view

Variants for TMEM231 Gene

Sequence variations from dbSNP and Humsavar for TMEM231 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs15957 -- 75,538,549(+) GGAAT(A/T)CCTCT utr-variant-3-prime, nc-transcript-variant
rs364062 -- 75,539,328(-) TGCCG(G/T)ACTGT utr-variant-3-prime, nc-transcript-variant
rs364229 -- 75,539,008(-) AGGAA(A/C)AGGGT utr-variant-3-prime, nc-transcript-variant
rs379929 -- 75,539,335(-) GGATC(C/T)TTGCC utr-variant-3-prime, nc-transcript-variant
rs388223 -- 75,538,794(+) TGAAT(C/G)GGCTG utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM231 Gene

Variant ID Type Subtype PubMed ID
dgv902e1 CNV Complex 17122850
nsv525955 CNV Loss 19592680
nsv457521 CNV Gain 19166990
dgv2913n71 CNV Gain 21882294
nsv906917 CNV Gain+Loss 21882294
esv2647265 CNV Deletion 19546169
nsv906918 CNV Loss 21882294
nsv9461 CNV Gain 18304495
nsv436838 CNV Insertion 17901297
dgv491n67 CNV Gain 20364138
dgv2914n71 CNV Gain 21882294
dgv352n27 CNV Gain 19166990
nsv906926 CNV Gain 21882294
nsv442728 CNV CNV 18776908
dgv10e24 CNV Loss 17666407
nsv906927 CNV Gain 21882294
nsv906928 CNV Gain 21882294
nsv906929 CNV Loss 21882294

Relevant External Links for TMEM231 Gene

HapMap Linkage Disequilibrium report
TMEM231
Human Gene Mutation Database (HGMD)
TMEM231

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM231 Gene

Disorders for TMEM231 Gene

(2) OMIM Diseases for TMEM231 Gene (614949)

UniProtKB/Swiss-Prot

TM231_HUMAN
  • Joubert syndrome 20 (JBTS20) [MIM:614970]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. 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 retinal dystrophy and renal disease. {ECO:0000269 PubMed:23012439}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Meckel syndrome 11 (MKS11) [MIM:615397]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269 PubMed:23349226}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for TMEM231 Gene

genes like me logo Genes that share disorders with TMEM231: view

Publications for TMEM231 Gene

  1. Mutations in TMEM231 cause Joubert syndrome in French Canadians. (PMID: 23012439) Srour M. … Michaud J.L. (J. Med. Genet. 2012) 2 3 4
  2. Mutations in TMEM231 cause Meckel-Gruber syndrome. (PMID: 23349226) Shaheen R. … Alkuraya F.S. (J. Med. Genet. 2013) 2 3 4
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for TMEM231 Gene

Sources for TMEM231 Gene

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