FAM136A: Difference between revisions

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Latest revision as of 04:33, 31 August 2017

Protein FAM136A is a protein that in humans is encoded by the FAM136A gene.^[1]^[2]

Clinical significance

Mutations in FAM136A are associated to Meniere's disease .^[3]^[4]

References

↑ Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (Dec 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc Natl Acad Sci U S A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
↑ "Entrez Gene: FLJ14668 hypothetical protein FLJ14668".
↑ Lopez-Escamez JA, Carey J, Chung WH, Goebel JA, Magnusson M, Mandalà M, Newman-Toker DE, Strupp M, Suzuki M, Trabalzini F, Bisdorff A (2015). "Diagnostic criteria for Menière's disease". J Vestib Res. 25: 1–7. doi:10.3233/VES-150549. PMID 25882471.
↑ Requena, T; Cabrera, S; Martín-Sierra, C; Price, S. D.; Lysakowski, A; Lopez-Escamez, J. A. (2014). "Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease". Human Molecular Genetics. 24: 1119–26. doi:10.1093/hmg/ddu524. PMC 4834881. PMID 25305078.

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Lehner B, Sanderson CM (2004). "A protein interaction framework for human mRNA degradation". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC 442147. PMID 15231747.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

[pmid12477932-1] Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (Dec 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc Natl Acad Sci U S A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

[entrez-2] "Entrez Gene: FLJ14668 hypothetical protein FLJ14668".

[2015DiagConsensus-3] Lopez-Escamez JA, Carey J, Chung WH, Goebel JA, Magnusson M, Mandalà M, Newman-Toker DE, Strupp M, Suzuki M, Trabalzini F, Bisdorff A (2015). "Diagnostic criteria for Menière's disease". J Vestib Res. 25: 1–7. doi:10.3233/VES-150549. PMID 25882471.

[4] Requena, T; Cabrera, S; Martín-Sierra, C; Price, S. D.; Lysakowski, A; Lopez-Escamez, J. A. (2014). "Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease". Human Molecular Genetics. 24: 1119–26. doi:10.1093/hmg/ddu524. PMC 4834881. PMID 25305078.

[1]

[2]

[3]

[4]

@@ Line 1: / Line 1: @@
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+{{Infobox_gene}}
-{{GNF_Protein_box
+'''Protein FAM136A''' is a [[protein]] that in humans is encoded by the ''FAM136A'' [[gene]].<ref name="pmid12477932">{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA | title = Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences | journal = Proc Natl Acad Sci U S A | volume = 99 | issue = 26 | pages = 16899–903 |date=Dec 2002 | pmid = 12477932 | pmc = 139241 | doi = 10.1073/pnas.242603899 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: FLJ14668 hypothetical protein FLJ14668| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84908| accessdate = }}</ref>
- | image =
- | image_source =
- | PDB =
- | Name = Hypothetical protein FLJ14668
- | HGNCid =
- | Symbol = FLJ14668
- | AltSymbols =;
- | OMIM =
- | ECnumber =
- | Homologene = 41637
- | MGIid = 1913738
- | GeneAtlas_image1 = PBB_GE_FLJ14668_215947_s_at_tn.png
- | Function = {{GNF_GO|id=GO:0005515 |text = protein binding}}
- | Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
- | Process =
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 84908
-    | Hs_Ensembl = ENSG00000035141
-    | Hs_RefseqProtein = NP_116211
-    | Hs_RefseqmRNA = NM_032822
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 2
-    | Hs_GenLoc_start = 70376613
-    | Hs_GenLoc_end = 70382705
-    | Hs_Uniprot =  Q96C01
-    | Mm_EntrezGene = 66488
-    | Mm_Ensembl = ENSMUSG00000057497
-    | Mm_RefseqmRNA = NM_025591
-    | Mm_RefseqProtein = NP_079867
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 6
-    | Mm_GenLoc_start = 86331317
-    | Mm_GenLoc_end = 86335691
-    | Mm_Uniprot =
-  }}
-}}
-'''Hypothetical protein FLJ14668''', also known as '''FLJ14668''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: FLJ14668 hypothetical protein FLJ14668| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84908| accessdate = }}</ref>
 <!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
@@ Line 53: / Line 9: @@
 | summary_text =
 }}
+== Clinical significance ==
+Mutations in FAM136A are associated to {{SWL|type=mutations_associated_to|target=Meniere's disease|label=Meniere's disease}}.<ref name=2015DiagConsensus>{{cite journal | url = http://content.iospress.com/download/journal-of-vestibular-research/ves00549?id=journal-of-vestibular-research%2Fves00549 | pmid = 25882471 | doi=10.3233/VES-150549 | volume=25 | title=Diagnostic criteria for Menière's disease | year=2015 | journal=J Vestib Res | pages=1–7 | vauthors=Lopez-Escamez JA, Carey J, Chung WH, Goebel JA, Magnusson M, Mandalà M, Newman-Toker DE, Strupp M, Suzuki M, Trabalzini F, Bisdorff A}}</ref><ref>{{Cite journal
+ | pmid = 25305078
+| year = 2014
+| author1 = Requena
+| first1 = T
+| title = Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease
+| journal = Human Molecular Genetics
+| last2 = Cabrera
+| first2 = S
+| last3 = Martín-Sierra
+| first3 = C
+| last4 = Price
+| first4 = S. D.
+| last5 = Lysakowski
+| first5 = A
+| last6 = Lopez-Escamez
+| first6 = J. A.
+| doi = 10.1093/hmg/ddu524
+ | volume=24
+ | pages=1119–26
+ | pmc=4834881
+}}</ref>
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
+*{{cite journal  |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8  }}
-*{{cite journal  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi=  }}
+*{{cite journal  |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3}}
-*{{cite journal  | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi=  }}
+*{{cite journal  |vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000  | pmc=310948  }}
-*{{cite journal  | author=Wiemann S, Weil B, Wellenreuther R, ''et al.'' |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422-35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.154701 }}
+*{{cite journal  |vauthors=Wiemann S, Weil B, Wellenreuther R, etal |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R  | pmc=311072}}
-*{{cite journal  | author=Simpson JC, Wellenreuther R, Poustka A, ''et al.'' |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287-92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 }}
+*{{cite journal  |vauthors=Simpson JC, Wellenreuther R, Poustka A, etal |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058  | pmc=1083732}}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+*{{cite journal  |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285}}
-*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
+*{{cite journal  |vauthors=Lehner B, Sanderson CM |title=A protein interaction framework for human mRNA degradation |journal=Genome Res. |volume=14 |issue= 7 |pages= 1315–23 |year= 2004 |pmid= 15231747 |doi= 10.1101/gr.2122004  | pmc=442147 }}
-*{{cite journal  | author=Lehner B, Sanderson CM |title=A protein interaction framework for human mRNA degradation. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1315-23 |year= 2004 |pmid= 15231747 |doi= 10.1101/gr.2122004 }}
+*{{cite journal  |vauthors=Wiemann S, Arlt D, Huber W, etal |title=From ORFeome to biology: a functional genomics pipeline |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704  | pmc=528930}}
-*{{cite journal  | author=Wiemann S, Arlt D, Huber W, ''et al.'' |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136-44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 }}
+*{{cite journal  |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209}}
-*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
+*{{cite journal  |vauthors=Mehrle A, Rosenfelder H, Schupp I, etal |title=The LIFEdb database in 2006 |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139  | pmc=1347501}}
-*{{cite journal  | author=Mehrle A, Rosenfelder H, Schupp I, ''et al.'' |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415-8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 }}
 }}
 {{refend}}
-{{protein-stub}}
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+{{PBB_Controls
+| update_page = yes
+| require_manual_inspection = no
+| update_protein_box = yes
+| update_summary = yes
+| update_citations = yes
+}}
+{{gene-2-stub}}

FAM136A: Difference between revisions

Latest revision as of 04:33, 31 August 2017

Clinical significance

References

Further reading

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