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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.

Additional gene information for TMEM185A Gene

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

Genomics for TMEM185A Gene

GeneHancer (GH) Regulatory Elements for TMEM185A Gene

Promoters and enhancers for TMEM185A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI149630 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 555.8 +0.7 680 2.3 RB1 SIN3A ZNF335 GLIS2 EGR1 SMARCA5 SP3 ZBTB11 ELF1 GLIS1 TMEM185A CXorf40A IDS HSFX2
GH0XI149538 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 18.5 +91.4 91377 3.1 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 POLR2B ZNF143 SP3 ZHX2 CXorf40A LINC00893 TMEM185A CXorf40B IDS2
GH0XI149523 Enhancer 1.2 Ensembl ENCODE dbSUPER 7.3 +106.6 106574 3 HDAC1 ATF1 BMI1 ZBTB40 TCF12 GLIS2 EGR1 SCRT2 ELF1 ZNF518A IDS2 IDSP1 TMEM185A ENSG00000241489
GH0XI149828 Enhancer 0.9 Ensembl ENCODE 5.2 -197.7 -197732 2.7 HDGF HDAC1 NRF1 EBF1 RELA TARDBP ZNF512 IKZF1 NBN ATF7 CXorf40A LINC00894 LINC00893 TMEM185A IDS2 LINC00850 MAGEA8
GH0XI149627 Enhancer 0.6 ENCODE 0.8 +3.5 3461 1 FOXA2 RFX1 TEAD1 RARA TEAD3 SKI NR2F6 SMAD4 RXRB TMEM185A HSFX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM185A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM185A gene promoter:

Genomic Locations for TMEM185A Gene

Genomic Locations for TMEM185A Gene
35,357 bases
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:
    Recommended name:
    Transmembrane protein 185A
    Protein Accession:
    Secondary Accessions:
    • B3KTZ3
    • Q3SYH1
    • Q96CW3
    • Q96KE8

    Protein attributes for TMEM185A Gene

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

neXtProt entry for TMEM185A Gene

Post-translational modifications for TMEM185A Gene

No Post-translational modifications

No data available for DME Specific Peptides for TMEM185A Gene

Domains & Families for TMEM185A Gene

Gene Families for TMEM185A Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM185A Gene


Graphical View of Domain Structure for InterPro Entry



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

Function for TMEM185A Gene

Gene Ontology (GO) - Molecular Function for TMEM185A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15525354
genes like me logo Genes that share ontologies with TMEM185A: view
genes like me logo Genes that share phenotypes with TMEM185A: view

Animal Model Products

CRISPR Products

miRNA for TMEM185A Gene

miRTarBase miRNAs that target TMEM185A

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , 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

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 TMEM185A gene
Compartment Confidence
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM185A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite ISS --
GO:0042995 cell projection IEA --
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

Selected Interacting proteins: Q8NFB2-T185A_HUMAN for TMEM185A Gene via IID

Gene Ontology (GO) - Biological Process for TMEM185A Gene


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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for TMEM185A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TMEM185A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM185A Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM185A Gene:


SOURCE GeneReport for Unigene cluster for TMEM185A Gene:


Evidence on tissue expression from TISSUES for TMEM185A Gene

  • Nervous system(4.6)
  • Eye(4)
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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia TMEM185A 33
  • 96.64 (n)
(Rattus norvegicus)
Mammalia Tmem185a 33
  • 91.14 (n)
(Mus musculus)
Mammalia BC023829 33
  • 90.68 (n)
Tmem185a 16
(Bos Taurus)
Mammalia TMEM185A 33
  • 90.19 (n)
(Canis familiaris)
Mammalia TMEM185A 33
  • 89.83 (n)
(Gallus gallus)
Aves TMEM185A 33
  • 82.1 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem185a 33
  • 79.62 (n)
(Danio rerio)
Actinopterygii zgc:63572 33
  • 76.38 (n)
Species where no ortholog for TMEM185A 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)
  • 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

Gene Tree for TMEM185A (if available)
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 Variation AA Info Type
rs1000355788 -- 149,606,477(-) G/A intron_variant
rs1000742527 -- 149,605,297(-) C/T intron_variant
rs1000807161 -- 149,606,854(-) C/T intron_variant
rs1001005785 -- 149,622,943(-) T/C intron_variant
rs1001093119 -- 149,605,001(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv1006862 CNV deletion 20482838
esv1356234 CNV deletion 17803354
esv2658408 CNV deletion 23128226
esv2740592 CNV deletion 23290073
esv3577514 CNV gain 25503493
esv3577515 CNV gain 25503493
nsv508809 CNV insertion 20534489
nsv518742 CNV gain 19592680
nsv524121 CNV gain 19592680
nsv525908 CNV gain 19592680
nsv7464 OTHER inversion 18451855

Variation tolerance for TMEM185A Gene

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

Additional Variant Information for TMEM185A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Additional Disease Information for 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 MA … Gécz J (European journal of human genetics : EJHG 2002) 2 3 4 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  4. Cloning of a novel neuronally expressed orphan G-protein-coupled receptor which is up-regulated by erythropoietin, interacts with microtubule-associated protein 1b and colocalizes with the 5-hydroxytryptamine 2a receptor. (PMID: 15525354) Maurer MH … Schneider A (Journal of neurochemistry 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TMEM185A Gene

Sources for TMEM185A Gene

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