C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008] See more...

Aliases for TMEM204 Gene

Aliases for TMEM204 Gene

  • Transmembrane Protein 204 2 3 4 5
  • Claudin-Like Protein Of 24 KDa 2 3
  • Claudin-Like Protein 24 3 4
  • C16orf30 3 4
  • CLP24 3 4
  • Chromosome 16 Open Reading Frame 30 2

External Ids for TMEM204 Gene

Previous HGNC Symbols for TMEM204 Gene

  • C16orf30

Previous GeneCards Identifiers for TMEM204 Gene

  • GC16P001524
  • GC16P001583
  • GC16P001509
  • GC16P001579

Summaries for TMEM204 Gene

Entrez Gene Summary for TMEM204 Gene

  • C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]

GeneCards Summary for TMEM204 Gene

TMEM204 (Transmembrane Protein 204) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for TMEM204 Gene

  • Can influence paracellular permeability. Appears to be involved in cell-cell interactions through adherens.

Additional gene information for TMEM204 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM204 Gene

Genomics for TMEM204 Gene

GeneHancer (GH) Regulatory Elements for TMEM204 Gene

Promoters and enhancers for TMEM204 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J001530 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 785.3 +6.5 6535 10 SP1 ZIC2 POLR2A RXRA LEF1 MNT NR2F2 CTCF RAD21 MAX TMEM204 TELO2 FAHD1 PTX4 IFT140 CCDC154 NME3 TSR3 FBXL16 CLCN7
GH16J001528 Promoter/Enhancer 1 EPDnew dbSUPER 750.6 0.0 -29 0.1 MNT TEAD4 ZNF473 CBFA2T2 EGR1 ZNF24 ZSCAN4 TRIM24 ZSCAN5A ZFHX2 TMEM204 piR-56497-055 CCDC154 WDR24 PTX4 TELO2 RNF151 CHTF18 CRAMP1 WDR90
GH16J001526 Enhancer 0.7 ENCODE CraniofacialAtlas dbSUPER 775.4 -1.4 -1389 1.2 NFIC NFIA TMEM204 TELO2 PTX4 CCDC154 ENSG00000260646 IFT140
GH16J001527 Enhancer 0.5 ENCODE dbSUPER 758.7 -0.7 -733 0.2 NFIC NFIA TMEM204 TELO2 PTX4 CCDC154 ENSG00000260646 IFT140
GH16J001529 Enhancer 0.2 dbSUPER 750.6 +1.0 982 0.7 ENSG00000280062 TMEM204 piR-56497-055 TELO2 PTX4 CCDC154 IFT140
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM204 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM204 gene promoter:
  • AREB6
  • Bach1
  • c-Myc
  • C/EBPalpha
  • CHOP-10
  • E47
  • Elk-1
  • Max1
  • Pax-2

Genomic Locations for TMEM204 Gene

Genomic Locations for TMEM204 Gene
chr16:1,528,688-1,555,580
(GRCh38/hg38)
Size:
26,893 bases
Orientation:
Plus strand
chr16:1,578,689-1,605,581
(GRCh37/hg19)
Size:
26,893 bases
Orientation:
Plus strand

Genomic View for TMEM204 Gene

Genes around TMEM204 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM204 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM204 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM204 Gene

Proteins for TMEM204 Gene

  • Protein details for TMEM204 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSN7-TM204_HUMAN
    Recommended name:
    Transmembrane protein 204
    Protein Accession:
    Q9BSN7
    Secondary Accessions:
    • D3DU76
    • Q3KRC1
    • Q9H7G5

    Protein attributes for TMEM204 Gene

    Size:
    226 amino acids
    Molecular mass:
    24540 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14926.1; Type=Frameshift; Positions=161; Evidence={ECO:0000305};

neXtProt entry for TMEM204 Gene

Post-translational modifications for TMEM204 Gene

  • Glycosylation at Asn164
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM204 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM204 Gene

Domains & Families for TMEM204 Gene

Gene Families for TMEM204 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM204 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM204 Gene

GenScript: Design optimal peptide antigens:
  • Claudin-like protein 24 (TM204_HUMAN)
genes like me logo Genes that share domains with TMEM204: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TMEM204 Gene

Function for TMEM204 Gene

Molecular function for TMEM204 Gene

UniProtKB/Swiss-Prot Function:
Can influence paracellular permeability. Appears to be involved in cell-cell interactions through adherens.
UniProtKB/Swiss-Prot Induction:
By hypoxia.

Phenotypes From GWAS Catalog for TMEM204 Gene

genes like me logo Genes that share phenotypes with TMEM204: view

Animal Models for TMEM204 Gene

MGI Knock Outs for TMEM204:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM204

CRISPR Products

miRNA for TMEM204 Gene

miRTarBase miRNAs that target TMEM204

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM204 Gene

Localization for TMEM204 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM204 Gene

Cell junction, adherens junction. Cell membrane; Multi-pass membrane protein. Note=Colocalizes with the beta-catenin adherins.

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 TMEM204 gene
Compartment Confidence
plasma membrane 4
extracellular 1

Gene Ontology (GO) - Cellular Components for TMEM204 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0005912 adherens junction IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with TMEM204: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM204 Gene

Pathways & Interactions for TMEM204 Gene

PathCards logo

SuperPathways for TMEM204 Gene

No Data Available

Interacting Proteins for TMEM204 Gene

Gene Ontology (GO) - Biological Process for TMEM204 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001945 lymph vessel development IBA 21873635
GO:0030947 regulation of vascular endothelial growth factor receptor signaling pathway IBA 21873635
GO:0051145 smooth muscle cell differentiation IEA,IBA 21873635
genes like me logo Genes that share ontologies with TMEM204: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM204 Gene

Drugs & Compounds for TMEM204 Gene

No Compound Related Data Available

Transcripts for TMEM204 Gene

mRNA/cDNA for TMEM204 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(103) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM204 Gene

No ASD Table

Relevant External Links for TMEM204 Gene

GeneLoc Exon Structure for
TMEM204
ECgene alternative splicing isoforms for
TMEM204

Expression for TMEM204 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM204 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM204 Gene

This gene is overexpressed in Pancreas (34.1), Testis (21.6), and Adipocyte (13.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM204 Gene



Protein tissue co-expression partners for TMEM204 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM204 Gene:

TMEM204

SOURCE GeneReport for Unigene cluster for TMEM204 Gene:

Hs.459652

mRNA Expression by UniProt/SwissProt for TMEM204 Gene:

Q9BSN7-TM204_HUMAN
Tissue specificity: Highly expressed in lung, heart, kidney and placenta. Lower expression in thymus, spleen, liver, testis and ovary. Expressed in endothelial and restricted epithelial cell populations.

Evidence on tissue expression from TISSUES for TMEM204 Gene

  • Lung(4.3)
  • Heart(4.2)
  • Pancreas(4.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with TMEM204: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM204 Gene

Orthologs for TMEM204 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM204 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM204 33
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM204 33 32
  • 86.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM204 33 32
  • 85.4 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem204 32
  • 84.37 (n)
mouse
(Mus musculus)
Mammalia Tmem204 17 33 32
  • 83.92 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM204 33
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM204 33
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM204 33 32
  • 78.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM204 33
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100135192 32
  • 72.5 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem204 33 32
  • 70.79 (n)
OneToOne
Species where no ortholog for TMEM204 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)
  • worm (Caenorhabditis elegans)

Evolution for TMEM204 Gene

ENSEMBL:
Gene Tree for TMEM204 (if available)
TreeFam:
Gene Tree for TMEM204 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM204: view image

Paralogs for TMEM204 Gene

No data available for Paralogs for TMEM204 Gene

Variants for TMEM204 Gene

Sequence variations from dbSNP and Humsavar for TMEM204 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs34668993 benign-likely-benign, Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 1,526,742(+) G/A upstream_transcript_variant
rs375979698 uncertain-significance, Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 1,526,772(+) C/T upstream_transcript_variant
rs748463111 uncertain-significance, Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 1,526,773(+) G/A upstream_transcript_variant
rs1555478654 pathogenic, not provided 1,526,798(+) T/C upstream_transcript_variant
rs368232950 uncertain-significance, not provided 1,526,692(+) G/A/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM204 Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV duplication 17116639
esv2750347 CNV deletion 23290073
nsv1051692 CNV loss 25217958
nsv428317 CNV gain 18775914
nsv833118 CNV loss 17160897
nsv952899 CNV deletion 24416366

Variation tolerance for TMEM204 Gene

Residual Variation Intolerance Score: 39.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.43; 54.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM204 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM204

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM204 Gene

Disorders for TMEM204 Gene

Additional Disease Information for TMEM204

No disorders were found for TMEM204 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM204 Gene

Publications for TMEM204 Gene

  1. A novel four transmembrane spanning protein, CLP24. A hypoxically regulated cell junction protein. (PMID: 15206924) Kearsey J … Schweighoffer F (European journal of biochemistry 2004) 2 3 4 23 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  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 HF … Gray A (Genome research 2003) 3 4 56
  5. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 3 4 56

Products for TMEM204 Gene

Sources for TMEM204 Gene