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

Gene ID: 84548, updated on 5-Mar-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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Location:
Xq28
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (149596556..149631792, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (147862307..147897566, complement)
105.20220307 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. 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
  2. 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
  3. 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
  4. 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
  5. Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders. Steiner CE, et al. Arq Neuropsiquiatr, 2003 Jun. PMID 12806492

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)

Genotypes

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
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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

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