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Aliases for TMEM185A Gene

Aliases for TMEM185A Gene

  • Transmembrane Protein 185A 2 3 5
  • Family With Sequence Similarity 11, Member A 2 3
  • CXorf13 3 4
  • FAM11A 3 4
  • Fragile Site, Folic Acid Type, Rare, Fra(X)(Q28) F 3
  • Chromosome X Open Reading Frame 13 2
  • Protein FAM11A 4
  • FRAXF 3
  • Ee3 3

External Ids for TMEM185A Gene

Previous HGNC Symbols for TMEM185A Gene

  • CXorf13
  • FAM11A

Previous GeneCards Identifiers for TMEM185A Gene

  • GC0XM148487
  • GC0XM148678
  • GC0XM137631

Summaries for TMEM185A Gene

Entrez Gene Summary for TMEM185A Gene

  • The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013]

GeneCards Summary for TMEM185A Gene

TMEM185A (Transmembrane Protein 185A) is a Protein Coding gene. Diseases associated with TMEM185A include Fraxf Syndrome. An important paralog of this gene is TMEM185B.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM185A Gene

Genomics for TMEM185A Gene

Regulatory Elements for TMEM185A Gene

Enhancers for TMEM185A 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 TMEM185A on UCSC Golden Path with GeneCards custom track

Promoters for TMEM185A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMEM185A on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM185A Gene

Chromosome:
X
Start:
149,596,556 bp from pter
End:
149,631,912 bp from pter
Size:
35,357 bases
Orientation:
Minus strand

Genomic View for TMEM185A Gene

Genes around TMEM185A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM185A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM185A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM185A Gene

Proteins for TMEM185A Gene

  • Protein details for TMEM185A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFB2-T185A_HUMAN
    Recommended name:
    Transmembrane protein 185A
    Protein Accession:
    Q8NFB2
    Secondary Accessions:
    • B3KTZ3
    • Q3SYH1
    • Q96CW3
    • Q96KE8

    Protein attributes for TMEM185A Gene

    Size:
    350 amino acids
    Molecular mass:
    40631 Da
    Quaternary structure:
    • Interacts with MAP1B.
    SequenceCaution:
    • Sequence=AAH13793.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for TMEM185A Gene

Proteomics data for TMEM185A Gene at MOPED

Post-translational modifications for TMEM185A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for TMEM185A Gene

Domains & Families for TMEM185A Gene

Protein Domains for TMEM185A Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8NFB2

UniProtKB/Swiss-Prot:

T185A_HUMAN :
  • Belongs to the TMEM185 family.
Family:
  • Belongs to the TMEM185 family.
genes like me logo Genes that share domains with TMEM185A: view

No data available for Gene Families for TMEM185A Gene

Function for TMEM185A Gene

genes like me logo Genes that share phenotypes with TMEM185A: view

Animal Models for TMEM185A Gene

MGI Knock Outs for TMEM185A:

Animal Model Products

CRISPR Products

miRNA for TMEM185A Gene

miRTarBase miRNAs that target TMEM185A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM185A Gene

Localization for TMEM185A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM185A Gene

Cell projection, dendrite. Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM185A Gene COMPARTMENTS Subcellular localization image for TMEM185A gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for TMEM185A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030425 dendrite ISS --
genes like me logo Genes that share ontologies with TMEM185A: view

Pathways & Interactions for TMEM185A Gene

SuperPathways for TMEM185A Gene

No Data Available

Interacting Proteins for TMEM185A Gene

Gene Ontology (GO) - Biological Process for TMEM185A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM185A Gene

Drugs & Compounds for TMEM185A Gene

No Compound Related Data Available

Transcripts for TMEM185A Gene

Unigene Clusters for TMEM185A Gene

Transmembrane protein 185A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM185A Gene

No ASD Table

Relevant External Links for TMEM185A Gene

GeneLoc Exon Structure for
TMEM185A
ECgene alternative splicing isoforms for
TMEM185A

Expression for TMEM185A Gene

mRNA expression in normal human tissues for TMEM185A Gene

SOURCE GeneReport for Unigene cluster for TMEM185A Gene Hs.522172

genes like me logo Genes that share expression patterns with TMEM185A: 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 differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for TMEM185A Gene

Orthologs for TMEM185A Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM185A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMEM185A 35
  • 90.19 (n)
  • 98.86 (a)
dog
(Canis familiaris)
Mammalia TMEM185A 35
  • 89.83 (n)
  • 98.83 (a)
mouse
(Mus musculus)
Mammalia BC023829 35
  • 90.68 (n)
  • 99.69 (a)
BC023829 16
chimpanzee
(Pan troglodytes)
Mammalia TMEM185A 35
  • 96.64 (n)
  • 95.11 (a)
rat
(Rattus norvegicus)
Mammalia Tmem185a 35
  • 91.14 (n)
  • 99.71 (a)
chicken
(Gallus gallus)
Aves TMEM185A 35
  • 82.1 (n)
  • 95.71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem185a 35
  • 79.62 (n)
  • 94.86 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:63572 35
  • 76.38 (n)
  • 88 (a)
Species with no ortholog for TMEM185A:
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 TMEM185A Gene

ENSEMBL:
Gene Tree for TMEM185A (if available)
TreeFam:
Gene Tree for TMEM185A (if available)

Paralogs for TMEM185A Gene

Paralogs for TMEM185A Gene

genes like me logo Genes that share paralogs with TMEM185A: view

Variants for TMEM185A Gene

Sequence variations from dbSNP and Humsavar for TMEM185A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_033922 -
VAR_033923 -
rs394928 -- 149,601,351(-) CTGTG(C/T)GAATC intron-variant
rs395718 -- 149,600,594(-) CTCAC(A/G)GGAAG intron-variant
rs399537 -- 149,601,618(+) ctcag(A/T)tctga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM185A Gene

Variant ID Type Subtype PubMed ID
nsv525908 CNV Gain 19592680
nsv518742 CNV Gain 19592680
nsv508809 CNV Insertion 20534489
esv2740592 CNV Deletion 23290073
esv2658408 CNV Deletion 23128226
esv1006862 CNV Deletion 20482838
esv1356234 CNV Deletion 17803354
nsv524121 CNV Gain 19592680

Variation tolerance for TMEM185A Gene

Gene Damage Index Score: 0.12; 2.75% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TMEM185A Gene

Disorders for TMEM185A Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM185A Gene - From: Orphanet

Disorder Aliases PubMed IDs
fraxf syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM185A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM185A
genes like me logo Genes that share disorders with TMEM185A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM185A Gene

Publications for TMEM185A Gene

  1. A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation. (PMID: 12404111) Shaw M.A. … Gecz J. (Eur. J. Hum. Genet. 2002) 2 3 4 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Identification of differentially expressed genes using an annealing control primer system in stage III serous ovarian carcinoma. (PMID: 20969748) Kim Y.S. … Shick W.A. (BMC Cancer 2010) 3
  4. Human chromosome fragility. (PMID: 18078840) Lukusa T. … Fryns J.P. (Biochim. Biophys. Acta 2008) 3
  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 TMEM185A Gene

Sources for TMEM185A Gene

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