Free for academic non-profit institutions. Other users need a Commercial license

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 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
GH0XF149626 0.5 Ensembl 21.7 +5.0 5012 0.6 SCRT1 SCRT2 ZBTB20 TMEM185A HSFX2
GH0XF149538 0.2 ENCODE 18.5 +91.4 91377 3.1 HDGF PKNOX1 ARID4B SIN3A YY1 ZNF143 FOS ZNF263 SP3 ZHX2 TMEM185A CXorf40A CXorf40B IDS2 LINC00893
GH0XF149523 0.9 ENCODE 7.3 +106.6 106575 3.0 HDAC1 KLF1 ATF1 ETV1 BMI1 ZBTB40 ZNF316 GLIS2 NCOR1 EGR1 IDS2 TMEM185A IDSP1
GH0XF149630 0.2 ENCODE 5.8 +0.8 765 2.2 SIX4 CTCF KLF1 ZNF223 MAX SIN3A MTA3 GLIS2 GATAD1 POLR2A CXorf40A MAMLD1 IDS TMEM185A HSFX2
GH0XF149828 1.3 Ensembl ENCODE 5.2 -197.7 -197732 2.7 HDGF TBL1XR1 NRF1 EBF1 TBX21 RELA JUND IKZF1 ZNF512 TARDBP CXorf40A LINC00894 LINC00893 TMEM185A IDS2 LINC00850 MAGEA8
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000482812 712 2400 SIX4 CTCF KLF1 ZNF223 MAX SIN3A GLIS2 GATAD1 POLR2A MAZ

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

Post-translational modifications for TMEM185A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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 Models for TMEM185A Gene

MGI Knock Outs for TMEM185A:

Animal Model Products

miRNA for TMEM185A Gene

miRTarBase miRNAs that target TMEM185A

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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: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

None

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

Transcripts for TMEM185A Gene

Unigene Clusters for TMEM185A Gene

Transmembrane protein 185A:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for TMEM185A Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM185A Gene:

TMEM185A

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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia TMEM185A 34
  • 96.64 (n)
rat
(Rattus norvegicus)
Mammalia Tmem185a 34
  • 91.14 (n)
mouse
(Mus musculus)
Mammalia BC023829 34
  • 90.68 (n)
Tmem185a 16
cow
(Bos Taurus)
Mammalia TMEM185A 34
  • 90.19 (n)
dog
(Canis familiaris)
Mammalia TMEM185A 34
  • 89.83 (n)
chicken
(Gallus gallus)
Aves TMEM185A 34
  • 82.1 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem185a 34
  • 79.62 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:63572 34
  • 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

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
rs10521885 -- 149,620,769(+) TAATA(A/T)TATTA intron-variant
rs111895104 -- 149,601,941(+) GCACG(G/T)GGCCT intron-variant
rs112094495 -- 149,631,835(+) ACGAG(A/G)GCCGC nc-transcript-variant, utr-variant-5-prime
rs112255569 -- 149,615,542(+) ATTCC(C/G)TGTAG intron-variant
rs112264487 -- 149,624,822(+) GAAGA(A/T)CTGCA 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)

Relevant External Links for TMEM185A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM185A

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

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 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 M.H. … Schneider A. (J. Neurochem. 2004) 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 TMEM185A Gene

Sources for TMEM185A Gene

Content
Loading form....