SIX2

Protein-coding gene in the species Homo sapiens
SIX2
Identifiers
AliasesSIX2, SIX homeobox 2
External IDsOMIM: 604994 MGI: 102778 HomoloGene: 56518 GeneCards: SIX2
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for SIX2
Genomic location for SIX2
Band2p21Start45,005,182 bp[1]
End45,009,452 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for SIX2
Genomic location for SIX2
Band17 E4|17 55.72 cMStart85,991,705 bp[2]
End85,995,702 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gastrocnemius muscle

  • parotid gland

  • tibialis anterior muscle

  • palpebral conjunctiva

  • pituitary gland

  • periodontal fiber

  • islet of Langerhans

  • Achilles tendon

  • anterior pituitary

  • deltoid muscle
Top expressed in
  • maxillary prominence

  • parotid gland

  • external carotid artery

  • internal carotid artery

  • urethra

  • utricle

  • molar

  • saccule

  • male urethra

  • conjunctival fornix
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • DNA binding
  • sequence-specific DNA binding
  • DNA-binding transcription factor activity
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • transcription factor binding
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • protein-containing complex binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
  • transcription cis-regulatory region binding
Cellular component
  • nucleus
  • transcription regulator complex
Biological process
  • embryonic skeletal system morphogenesis
  • regulation of chondrocyte differentiation
  • regulation of transcription, DNA-templated
  • positive regulation of chondrocyte proliferation
  • chondrocyte differentiation
  • protein import into nucleus
  • kidney development
  • negative regulation of cell differentiation
  • anatomical structure morphogenesis
  • mesenchymal stem cell maintenance involved in nephron morphogenesis
  • mesenchymal to epithelial transition involved in metanephros morphogenesis
  • mesenchymal cell differentiation involved in kidney development
  • mesenchymal stem cell proliferation
  • transcription by RNA polymerase II
  • regulation of branching involved in ureteric bud morphogenesis
  • multicellular organism development
  • nephron morphogenesis
  • nephron development
  • middle ear morphogenesis
  • embryonic digestive tract morphogenesis
  • embryonic cranial skeleton morphogenesis
  • regulation of ossification
  • cell population proliferation
  • mesodermal cell fate specification
  • anterior/posterior axis specification
  • metanephros development
  • cell migration
  • positive regulation of transcription by RNA polymerase II
  • condensed mesenchymal cell proliferation
  • negative regulation of transcription, DNA-templated
  • anatomical structure development
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10736

20472

Ensembl

ENSG00000170577

ENSMUSG00000024134

UniProt

Q9NPC8
Q8TBA2

Q62232

RefSeq (mRNA)

NM_016932

NM_011380

RefSeq (protein)

NP_058628
NP_058628.3

NP_035510

Location (UCSC)Chr 2: 45.01 – 45.01 MbChr 17: 85.99 – 86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein SIX2 is a protein that in humans is encoded by the SIX2 gene.[5][6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170577 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024134 – 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. ^ "Entrez Gene: SIX2 sine oculis homeobox homolog 2 (Drosophila)".
  6. ^ Oliver, Guillermo (1995). "Homeobox genes and connective tissue patterning" (PDF). Development. 121 (3): 693–705. doi:10.1242/dev.121.3.693. hdl:11858/00-001M-0000-0013-037D-E. PMID 7720577.

Further reading

  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • López-Ríos J, Tessmar K, Loosli F, et al. (2003). "Six3 and Six6 activity is modulated by members of the groucho family". Development. 130 (1): 185–95. doi:10.1242/dev.00185. PMID 12441302.
  • Ikeda K, Watanabe Y, Ohto H, Kawakami K (2002). "Molecular interaction and synergistic activation of a promoter by Six, Eya, and Dach proteins mediated through CREB binding protein". Mol. Cell. Biol. 22 (19): 6759–66. doi:10.1128/MCB.22.19.6759-6766.2002. PMC 134036. PMID 12215533.
  • Buller C, Xu X, Marquis V, et al. (2002). "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Hum. Mol. Genet. 10 (24): 2775–81. doi:10.1093/hmg/10.24.2775. PMID 11734542.
  • Boucher CA, Winchester CL, Hamilton GM, et al. (2000). "Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2". Gene. 247 (1–2): 145–51. doi:10.1016/S0378-1119(00)00105-0. PMID 10773454.
  • Celli J, van Beusekom E, Hennekam RC, et al. (2000). "Familial syndromic esophageal atresia maps to 2p23-p24". Am. J. Hum. Genet. 66 (2): 436–44. doi:10.1086/302779. PMC 1288096. PMID 10677303.
  • Kawakami K, Ohto H, Takizawa T, Saito T (1996). "Identification and expression of six family genes in mouse retina". FEBS Lett. 393 (2–3): 259–63. doi:10.1016/0014-5793(96)00899-X. PMID 8814301. S2CID 20829948.
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(1) Basic domains
(1.1) Basic leucine 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) Helix-turn-helix domains
(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
see also transcription factor/coregulator deficiencies


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