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    TMEM185A transmembrane protein 185A [ Homo sapiens (human) ]

    Gene ID: 84548, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM185Aprovided by HGNC
    Official Full Name
    transmembrane protein 185Aprovided by HGNC
    Primary source
    HGNC:HGNC:17125
    See related
    Ensembl:ENSG00000269556 MIM:300031; AllianceGenome:HGNC:17125
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ee3; FRAXF; FAM11A; CXorf13
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 13.5), placenta (RPKM 12.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM185A in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (149596556..149631792, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (147862307..147897566, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (148678216..148713437, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MAGE family member A9B Neighboring gene heat shock transcription factor family, X-linked 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21045 Neighboring gene FRAXF repeat instability region Neighboring gene MAGE family member A11 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:148757169-148757709 Neighboring gene MAGE family member A11

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Parrish JE, et al. Nat Genet, 1994 Nov. PMID 7874164
    2. The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. Ritchie RJ, et al. Hum Mol Genet, 1994 Dec. PMID 7881407
    3. The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE. Hirst MC, et al. Hum Mol Genet, 1993 Feb. PMID 8499907
    4. Identification of differentially expressed genes using an annealing control primer system in stage III serous ovarian carcinoma. Kim YS, et al. BMC Cancer, 2010 Oct 22. PMID 20969748, Free PMC Article
    5. Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders. Holden JJ, et al. Am J Med Genet, 1996 Aug 9. PMID 8844091

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of genetic testing. (HuGE Navigator)
      Title: Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders.
    2. Transcriptionally silenced in a normal individual with a FRAXF CGG full mutation (fragile site).
      Title: A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation.
    3. The mouse ee3 is an orphan G-protein-coupled receptor with potential connections to erythropoietin and 5HT2a receptor signalling. ee3_2, a similar gene, is also described, along with human orthologs.
      Title: 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC118844, MGC118845

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 185A
    Names
    family with sequence similarity 11, member A
    fragile site, folic acid type, rare, fra(X)(q28) F

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016831.2 RefSeqGene

      Range
      5041..40277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001174092.3 → NP_001167563.1  transmembrane protein 185A isoform 2

      See identical proteins and their annotated locations for NP_001167563.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AF530473, AK297335, DA206736
      Consensus CDS
      CCDS55523.1
      UniProtKB/TrEMBL
      B7Z4G6
      Related
      ENSP00000483235.1, ENST00000611119.4
      Conserved Domains (1) summary
      pfam10269
      Location:12 → 194
      Tmemb_185A; Transmembrane Fragile-X-F protein

    2. NM_001282302.2 → NP_001269231.1  transmembrane protein 185A isoform 3

      See identical proteins and their annotated locations for NP_001269231.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC244197, AF530473, BC022405, BG721461, BQ224383, DA206736
      Consensus CDS
      CCDS76041.1
      UniProtKB/TrEMBL
      E7EMM1
      Related
      ENSP00000427766.1, ENST00000507237.5
      Conserved Domains (1) summary
      pfam10269
      Location:31 → 170
      Tmemb_185A; Transmembrane Fragile-X-F protein

    3. NM_032508.4 → NP_115897.1  transmembrane protein 185A isoform 1

      See identical proteins and their annotated locations for NP_115897.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF530473, DA206736
      Consensus CDS
      CCDS14689.1
      UniProtKB/Swiss-Prot
      B3KTZ3, Q3SYH1, Q8NFB2, Q96CW3, Q96KE8
      Related
      ENSP00000471932.1, ENST00000600449.8
      Conserved Domains (1) summary
      pfam10269
      Location:31 → 253
      Tmemb_185A; Transmembrane Fragile-X-F protein

    RNA

    1. NR_104121.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks several consecutive internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region and does not encode a supported protein.
      Source sequence(s)
      AF530473, AK097391, DA206736
      Related
      ENST00000612022.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      149596556..149631792 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      147862307..147897566 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFB2.3 GenPept UniProtKB/Swiss-Prot:Q8NFB2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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