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SOX11

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
SOX11
Identifiers
AliasesSOX11, MRD27, SRY-box 11, CSS9, SRY-box transcription factor 11
External IDsOMIM:600898;MGI:98359;HomoloGene:37733;GeneCards:SOX11;OMA:SOX11 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for SOX11
Genomic location for SOX11
Band2p25.2Start5,692,384bp[1]
End5,701,385bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for SOX11
Genomic location for SOX11
Band12|12 A2Start27,384,263bp[2]
End27,392,573bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ganglionic eminence

  • ventricular zone

  • buccal mucosa cell

  • cartilage tissue

  • optic nerve

  • retinal pigment epithelium

  • internal globus pallidus

  • nucleus accumbens

  • hypothalamus

  • medulla oblongata
Top expressed in
  • Rostral migratory stream

  • medial ganglionic eminence

  • abdominal wall

  • maxillary prominence

  • genital tubercle

  • human fetus

  • mandibular prominence

  • fossa

  • otic vesicle

  • trigeminal ganglion
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6664

20666

Ensembl

ENSG00000176887

ENSMUSG00000063632

UniProt

P35716

Q7M6Y2

RefSeq (mRNA)

NM_003108

NM_009234

RefSeq (protein)

NP_003099

NP_033260

Location (UCSC)Chr 2: 5.69 – 5.7 MbChr 12: 27.38 – 27.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transcription factor SOX-11 is aprotein that in humans is encoded by theSOX11gene.[5][6][7]

Function

[edit]

Thisintronless gene encodes a member of the group C SOX (SRY-related HMG-box) transcription factor family involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as atranscriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role intumorigenesis and adultneurogenesis.[7][8] Tuj1 andTead2 are suggested as direct target of Sox11.[9][10][11]

Clinical aspect

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Lymphocyte staining for SOX11immunohistochemistry indicatesmantle cell lymphoma (cyclin D1 positive and negative) rather than other maturelymphoid neoplasms or normal lymphocytes.[12]

Mutations in SOX11 are associated withCoffin–Siris syndrome[13] andmantle cell lymphoma.[14]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000176887Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000063632Ensembl, 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. ^Jay P, Gozé C, Marsollier C, Taviaux S, Hardelin JP, Koopman P, Berta P (Sep 1995). "The human SOX11 gene: cloning, chromosomal assignment and tissue expression".Genomics.29 (2):541–5.doi:10.1006/geno.1995.9970.PMID 8666406.
  6. ^Wiebe MS, Nowling TK, Rizzino A (May 2003)."Identification of novel domains within Sox-2 and Sox-11 involved in autoinhibition of DNA binding and partnership specificity".The Journal of Biological Chemistry.278 (20):17901–11.doi:10.1074/jbc.M212211200.PMID 12637543.
  7. ^ab"Entrez Gene: SOX11 SRY (sex determining region Y)-box 11".
  8. ^Haslinger A, Schwarz TJ, Covic M, Lie DC (Jun 2009). "Expression of Sox11 in adult neurogenic niches suggests a stage-specific role in adult neurogenesis".The European Journal of Neuroscience.29 (11):2103–14.doi:10.1111/j.1460-9568.2009.06768.x.PMID 19490090.S2CID 42742018.
  9. ^Bergsland M, Werme M, Malewicz M, Perlmann T, Muhr J (Dec 2006)."The establishment of neuronal properties is controlled by Sox4 and Sox11".Genes & Development.20 (24):3475–86.doi:10.1101/gad.403406.PMC 1698453.PMID 17182872.
  10. ^Bhattaram P, Penzo-Méndez A, Sock E, Colmenares C, Kaneko KJ, Vassilev A, Depamphilis ML, Wegner M, Lefebvre V (Apr 2010)."Organogenesis relies on SoxC transcription factors for the survival of neural and mesenchymal progenitors".Nature Communications.1 (1): 9.Bibcode:2010NatCo...1....9B.doi:10.1038/ncomms1008.PMC 2892298.PMID 20596238.
  11. ^Larson BL, Ylostalo J, Lee RH, Gregory C, Prockop DJ (Nov 2010)."Sox11 is expressed in early progenitor human multipotent stromal cells and decreases with extensive expansion of the cells".Tissue Engineering. Part A.16 (11):3385–94.doi:10.1089/ten.tea.2010.0085.PMC 2965191.PMID 20626275.
  12. ^Anna Dusenbery, M.D., Mark R. Wick, M.D."Stains & CD markers - SOX11".Pathology Outlines.{{cite web}}: CS1 maint: multiple names: authors list (link) Topic Completed: 1 January 2018. Minor changes: 12 August 2021
  13. ^Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N (2014)."De novo SOX11 mutations cause Coffin-Siris syndrome".Nature Communications.5: 4011.Bibcode:2014NatCo...5.4011T.doi:10.1038/ncomms5011.PMID 24886874.
  14. ^Vose, Julie M. (August 2017)."Mantle cell lymphoma: 2017 update on diagnosis, risk-stratification, and clinical management".American Journal of Hematology.92 (8):806–813.doi:10.1002/ajh.24797.ISSN 1096-8652.PMID 28699667.

Further reading

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External links

[edit]
  • Overview of all the structural information available in thePDB forUniProt:P35716 (Human Transcription factor SOX-11) at thePDBe-KB.
(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous


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