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Aliases for TMEM231 Gene

Aliases for TMEM231 Gene

  • Transmembrane Protein 231 2 3 5
  • ALYE870 3
  • PRO1886 3
  • JBTS20 3
  • MKS11 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 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM231 Gene

Genomics for TMEM231 Gene

Regulatory Elements for TMEM231 Gene

Enhancers for TMEM231 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
GH16G075516 1.4 ENCODE dbSUPER 25.6 +39.3 39274 2.0 HDGF PKNOX1 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ADAT1 TMEM231 TERF2IP CHST6 GABARAPL2 ZFP1 GLG1 LOC100420067 CHST5
GH16G075549 1.3 Ensembl ENCODE dbSUPER 16.3 +5.7 5737 1.4 ELF3 CTCF KLF1 SALL2 ZIC2 RAD21 RELA ZFHX2 EED ZNF143 ADAT1 TMEM231 TERF2IP ZFP1 ENSG00000260092
GH16G075501 1 Ensembl ENCODE dbSUPER 19.2 +54.3 54334 0.9 RFX1 AGO1 KDM6A TMEM231 ADAT1 CHST5 GABARAPL2 RNU6-758P ENSG00000273971 LOC100420067
GH16G074997 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +554.1 554121 8.5 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 TMEM231 ZNRF1 WDR59 ENSG00000261783 ZFP1 FA2H BCAR1 ENSG00000247033
GH16G075482 1.4 ENCODE dbSUPER 11.7 +71.1 71145 4.6 HDGF FOXA2 PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ENSG00000261783 CHST5 TMEM231 GLG1 TMEM170A BCAR1 ENSG00000203472 CHST6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM231 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM231 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000088024 585 1800 HDGF CREB3L1 AGO1 ZFP64 WRNIP1 ARID4B SIN3A YY1 ZNF143 ZNF263

Genomic Location for TMEM231 Gene

Chromosome:
16
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

Genes around TMEM231 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM231 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM231 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TMEM231 Gene

  • Ubiquitination at Lys181
  • Glycosylation at isoforms=2, 3194, posLast=199199, and posLast=221221
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM231 Gene

No data available for DME Specific Peptides for TMEM231 Gene

Domains & Families 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 :
  • Belongs to the TMEM231 family.
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

Human Phenotype Ontology for TMEM231 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM231

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
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 TMEM231 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TMEM231 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035869 ciliary transition zone ISS --
genes like me logo Genes that share ontologies with TMEM231: view

Pathways & Interactions for TMEM231 Gene

SuperPathways for TMEM231 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM231 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway ISS --
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly ISS --
genes like me logo Genes that share ontologies with TMEM231: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM231 Gene

Drugs & Compounds for TMEM231 Gene

No Compound Related Data Available

Transcripts for TMEM231 Gene

mRNA/cDNA for TMEM231 Gene

(2) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM231 Gene

Protein differential expression in normal tissues from HIPED for TMEM231 Gene

This gene is overexpressed in Nasal epithelium (66.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM231 Gene



NURSA nuclear receptor signaling pathways regulating expression of TMEM231 Gene:

TMEM231

SOURCE GeneReport for Unigene cluster for TMEM231 Gene:

Hs.156784

Evidence on tissue expression from TISSUES for TMEM231 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM231 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • 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
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TMEM231: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners 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 34 35
  • 98 (n)
dog
(Canis familiaris)
Mammalia TMEM231 34
  • 89.03 (n)
-- 35
  • 77 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TMEM231 34 35
  • 86.6 (n)
rat
(Rattus norvegicus)
Mammalia Tmem231 34
  • 84.34 (n)
mouse
(Mus musculus)
Mammalia Tmem231 34 16 35
  • 83.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 41 (a)
OneToMany
chicken
(Gallus gallus)
Aves TMEM231 34 35
  • 72.09 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem231 34
  • 66.78 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem231 34 35
  • 60.88 (n)
worm
(Caenorhabditis elegans)
Secernentea T26A8.2 35
  • 17 (a)
OneToMany
Species where no ortholog for TMEM231 was found in the sources mined by GeneCards:
  • 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
rs200799769 Pathogenic, Joubert syndrome 20 (JBTS20) [MIM:614970] 75,542,641(+) GAGGT(C/T)GTAGT nc-transcript-variant, reference, missense
rs397514754 Pathogenic, Meckel syndrome 11 (MKS11) [MIM:615397] 75,540,130(-) GGTGC(A/C)GTATG nc-transcript-variant, reference, missense
rs397514609 Pathogenic 75,556,198(-) CTCTA(A/C/T)GAGCT nc-transcript-variant, reference, synonymous-codon, missense, stop-gained
rs397514753 Pathogenic 75,542,602(-) GGAAC(A/G)GTGAG nc-transcript-variant, reference, missense
rs886039807 Pathogenic 75,541,466(-) AATGA(C/T)TGCAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv10e24 CNV loss 17666407
dgv124n111 CNV duplication 26073780
dgv3020n100 CNV gain 25217958
dgv352n27 CNV gain 19166990
dgv491n67 CNV gain 20364138
dgv5189n54 CNV gain 21841781
dgv5190n54 CNV gain 21841781
dgv5191n54 CNV gain 21841781
dgv536e214 CNV gain 21293372
dgv54e203 CNV gain 21179565
dgv856e212 CNV gain 25503493
esv2647265 CNV deletion 19546169
esv2758657 CNV gain 17122850
esv3639097 CNV loss 21293372
esv3892888 CNV gain+loss 25118596
esv3892889 CNV gain 25118596
nsv1056522 CNV gain+loss 25217958
nsv1059777 CNV loss 25217958
nsv1060805 CNV gain 25217958
nsv1063718 CNV gain 25217958
nsv1065995 CNV loss 25217958
nsv436838 CNV insertion 17901297
nsv442728 CNV gain 18776908
nsv457521 CNV gain 19166990
nsv525955 CNV loss 19592680
nsv572979 CNV gain 21841781
nsv572981 CNV gain 21841781
nsv572994 CNV gain 21841781
nsv9461 CNV gain 18304495
nsv978170 CNV duplication 23825009

Variation tolerance for TMEM231 Gene

Residual Variation Intolerance Score: 65.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.41; 88.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM231 Gene

Human Gene Mutation Database (HGMD)
TMEM231
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM231

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

Disorders for TMEM231 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TMEM231 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:26477546}. 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.

Relevant External Links for TMEM231

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM231
genes like me logo Genes that share disorders with TMEM231: view

No data available for Genatlas for TMEM231 Gene

Publications for TMEM231 Gene

  1. Mutations in TMEM231 cause Meckel-Gruber syndrome. (PMID: 23349226) Shaheen R. … Alkuraya F.S. (J. Med. Genet. 2013) 2 3 4 64
  2. Mutations in TMEM231 cause Joubert syndrome in French Canadians. (PMID: 23012439) Srour M. … Michaud J.L. (J. Med. Genet. 2012) 2 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for TMEM231 Gene

Sources for TMEM231 Gene

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