SRY-Box 11

Alternative Names

SOX11
SRY-Related HMG-Box Gene 11

Length

9,002 bases

No. of Exons

No. of isoforms

Protein Name

Transcription factor SOX-11

Molecular Mass

46679 Da

Amino Acid Count

441

Genomic Location

chr2:5,692,383-5,701,384

Gene Map Locus

2p25.2

Description

This intronless 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. The protein may function in the developing nervous system and play a role in tumorigenesis. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_003108.3:c.146T>A	Lebanon	NC_000002.12:g.5692867T>A		Likely Pathogenic	SOX11-Related Syndrome	NG_050751.1:g.5201T>A; NM_003108.3:c.146T>A; NP_003099.1:p.Ile49Asn

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SOX11

Contributors

Sayeeda Hana: 25.11.2020

Edit History

Sayeeda Hana: 05.04.2021
Sayeeda Hana: 25.11.2020

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