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SOX7

From Wikipedia, the free encyclopedia

SOX7
Identifiers
AliasesSOX7, SRY-box 7, SRY-box transcription factor 7
External IDsOMIM: 612202; MGI: 98369; HomoloGene: 7949; GeneCards: SOX7; OMA:SOX7 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031439

NM_011446

RefSeq (protein)

NP_113627

NP_035576

Location (UCSC)Chr 8: 10.72 – 10.73 MbChr 14: 64.18 – 64.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

SRY-box 7 is a protein that in humans is encoded by the SOX7 gene.[5]

Function

[edit]

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008].

SOX7 is a transcription factor that comes from the SRY-related HMG-Box family of transcription factors. These factors play a significant developmental role in regulating processes such as hematopoiesis, vasculogenesis, and cardiogenesis during the development of the embryo. Additionally, SOX7 is unique as it has been shown to also have tumor-suppressive effects, and downregulation of this gene has been seen in many forms of cancer. SOX7 as well as SOX17 and SOX18 have been known to work together to play a significant role in cardiovascular development, but continued research continues to identify SOX7 as playing a significant role in cancerous tumor suppression.

A homozygous deletion of the second exon in SOX7 was embryonically lethal, and a heterozygous deletion resulted in a congenital diaphragmatic hernia forming.[6]

Clinical significance

[edit]

The protein may play a role in tumorigenesis.

References

[edit]
  1. 1 2 3 ENSG00000285438 GRCh38: Ensembl release 89: ENSG00000171056, ENSG00000285438 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000063060 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: SRY-box 7". Retrieved 2018-05-26.
  6. Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, et al. (October 2012). "De novo copy number variants are associated with congenital diaphragmatic hernia". Journal of Medical Genetics. 49 (10): 650–659. doi:10.1136/jmedgenet-2012-101135. PMC 3696999. PMID 23054247.

Further reading

[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.