TMEM252

TMEM252
Identifiers
AliasesTMEM252, C9orf71, transmembrane protein 252
External IDsMGI: 3583948; GeneCards: TMEM252
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

169693

226040

Ensembl

ENSG00000181778

ENSMUSG00000048572

UniProt

Q8N6L7

Q8C353

RefSeq (mRNA)

NM_153237

NM_183160

RefSeq (protein)

NP_694969

NP_898983

Location (UCSC)Chr 9: 68.54 – 68.54 MbChr 19: 24.65 – 24.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transmembrane protein 252 is a protein that, in humans, is encoded by the TMEM252 gene.[5]

Gene

Transmembrane protein 252 (TMEM252), otherwise known as chromosome 9 open reading frame 71 (C9orf71), is a gene that encodes for the TMEM252 protein.[5] This gene is found on chromosome 9, and it spans over 3000 base pairs. Additionally, this gene is made up of 2 exons, with exon 1 stopping at nucleotide 346 and exon 2 beginning at nucleotide 347. The mRNA transcript is 1261 nucleotides in length.[6]

Protein

Predicted tertiary structure by the level of confidence for human protein TMEM252. The dark blue indicates the highest confidence, light blue indicates normal confidence, yellow indicates low confidence, and orange indicates very low confidence.[7]
Conceptual translation of predicted domains and other sites within TMEM252.[8]

The TMEM252 protein is 170 amino acids in length.[9] There are 2 transmembrane domains and one disordered region within this protein.[9] The predicted molecular weight of the unmodified precursor protein is 18.7 kDa.[10] The theoretical isoelectric point of this precursor protein is 4.88.[11] There are no known isoforms of TMEM252.

Expression

This gene is expressed mainly in the kidney and small intestine of humans; however, there are 10 other organs in which TMEM252 is expressed, just at a lower rate.[12] When RNA sequencing was done among 20 tissues, it was found that the kidney and prostate had the highest expression for TMEM252.[12] In the fetal development of a baby, the highest expression of TMEM252 is in the 10-week heart and kidney, and the 20-week stomach and intestine.[12] There is consistency between these expressions, as it can be concluded that the most prominent tissue expression of TMEM252 is in the kidney.

Homology and evolutionary history

Corrected sequence divergence (%) for TMEM252 (NP_694969.1), Cytochrome C (NP_061820), and Fibrinogen alpha (NP_068657) in multiple orthologs compared to the median date of divergence.
Unrooted phylogenetic tree of TMEM252 ancestry.[13] The accession numbers for these organisms can be found in the ortholog table. As shown, mammals are marked with a yellow circle, amphibians are marked with a purple circle, reptiles with a green circle, birds with a blue circle, and fish and sharks with a pink circle.

TMEM252 can be found in mammals, reptiles, birds, amphibians, and fish. TMEM252 first appeared in fish about 431 million years ago.[14] This was the first occurrence of this gene. There are no orthologs for this gene in jawless vertebrates, invertebrates, plants and fungi. Additionally, there are no paralogs of TMEM252.

TMEM252 first appeared in fish about 431 million years ago.[14] TMEM252 is evolving relatively quickly compared to fibrinogen alpha.

Table of TMEM252 Orthologs
Genus and Species Common Name Order Date of Divergence (MYA)[14] Accession Number Length (AA) % Identity w Humans % Similarity w Humans
Homo sapiens Human primate 0 NP_694969.1 170 100 100%
Cebus imitator Panamanian White-Faced Capuchin primate 43 XP_017398911.1 170 86.5 90.60%
Orcinus orca Orca cetacea 94 XP_004276471.1 171 71.9 82.50%
Choloepus didactylus Linnaeus's Two-Toed Sloth pilosa 99 XP_037707165.1 170 72.4 82.90%
Crotalus tigris Tiger Rattlesnake squamata 319 XP_039218251.1 168 38.9 54.10%
Gallus gallus Chicken galliformes 319 XP_046791631.1 177 35 52.50%
Caretta caretta Loggerhead Sea Turtle testudines 319 XP_048705310.1 193 34.5 49.50%
Crocodylus porosus Saltwater Crocodile crocodilia 319 XP_019410953.1 196 33.8 49.00%
Nipponia nippon Crested Ibis pelecaniformes 319 XP_009460509.1 167 33.5 50.80%
Apteryx rowi Okarito Kiwi apterygiformes 319 XP_025915801.1 188 33.2 48.70%
Brachypteracias leptosomus Short-legged Ground-roller coraciiformes 319 NXS61352.1 175 32.1 44.90%
Onychostruthus taczanowskii White-rumped Snow Finch passeridae 319 XP_041282844.1 194 29.2 44.80%
Microcaecilia unicolor Microcaecilia Unicolor caecilians 353 XP_030048238.1 184 37.6 50.80%
Bufo gargarizans Asiatic Toad anura 353 XP_044143156.1 172 36.8 53.80%
Xenopus tropicalis Western Clawed Frog anura 353 XP_004910840.1 183 35.8 55.10%
Chanos chanos Milkfish gonorynchiformes 431 XP_030620693.1 168 32.8 47.00%
Pangasianodon hypophthalmus Iridescent Shark shark 431 XP_026784303.1 178 29.6 44.70%
Oncorhynchus mykiss Rainbow Trout salmoniformes 431 XP_021477694.1 186 29.4 43.80%
Amphiprion ocellaris Ocellaris Clownfish perciformes 431 XP_023154880.1 174 28.6 42.30%
Electrophorus electricus Electric Eel gymnotiformes 431 XP_026870189.2 209 25.7 40.50%
Larimichthys crocea Yellow Croaker acanthuriformes 431 TMS03948.1 171 23.2 37.40%

Clinical relevance

TMEM252 was found to be one of six novel genes associated with the prognosis of triple-negative breast cancer.[15] Patients who had one or more of the six novel genes had significantly lower survival rates than those without. There are no relevant studies for TMEM252 and its relation to tumors.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000181778 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048572 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "TMEM252 transmembrane protein 252 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-09-18.
  6. ^ "Homo sapiens transmembrane protein 252 (TMEM252), mRNA". 2022-06-08.
  7. ^ Database AP. "AlphaFold Protein Structure Database". alphafold.ebi.ac.uk. Retrieved 2022-12-15.
  8. ^ "Six-Frame Translation". www.bioline.com. Retrieved 2022-12-15.
  9. ^ a b "transmembrane protein 252 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-15.
  10. ^ "TMEM252 Gene - GeneCards | TM252 Protein | TM252 Antibody". www.genecards.org. Retrieved 2022-12-15.
  11. ^ "Expasy - Compute pI/Mw tool". web.expasy.org. Retrieved 2022-12-15.
  12. ^ a b c "TMEM252 transmembrane protein 252 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-07.
  13. ^ "Phylogeny.fr: "One Click" Mode". www.phylogeny.fr. Retrieved 2022-12-15.
  14. ^ a b c "TimeTree :: The Timescale of Life". timetree.org. Retrieved 2022-10-20.
  15. ^ Lv X, He M, Zhao Y, Zhang L, Zhu W, Jiang L, et al. (2019). "Identification of potential key genes and pathways predicting pathogenesis and prognosis for triple-negative breast cancer". Cancer Cell International. 19 (1) 172. doi:10.1186/s12935-019-0884-0. PMC 6599314. PMID 31297036.

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