SOX14 - SRY-box transcription factor 14 Gene

Homo sapiens

Also known as SOX28

Gene ID: 8403 | Gene type: protein coding

About SOX14

Cytogenetic location: 3q22.3 Genomic coordinates (GRCh38): 3:137,764,315-137,766,334 (from NCBI)

This gene has 1 transcript (splice variant), 246 orthologues and 20 paralogues.

Summary

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. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]

SOX14 Products(1)

mRNA	Protein	Name
NM_004189.4	NP_004180.1	transcription factor SOX-14

SOX14 Protein Structure

HMG_box

SOXp

0
100
200
240 a.a.

Protein Preferred Names

Protein Names

transcription factor SOX-14

HMG box transcription factor SOX-14

Related Diseases

Diseases

Alias

Blepharophimosis

Bestiality

Zoophilia

Moebius Syndrome

Mobius Syndrome	Moebius Sequence
Oromandibular-Limb Hypogenesis Spectrum	Congenital Facial Diplegia
MBS	Moebius Congenital Oculofacial Paralysis
Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves	Congenital Facial Diplegia Syndrome
Congenital Oculofacial Paralysis	Congenital Ophthalmoplegia And Facial Paresis
Moebius Spectrum	Möbius Sequence
Möbius Syndrome	Mobius Ii Syndrome

Dihydropyrimidinase Deficiency

Dihydropyrimidinuria	Dpys Deficiency
Dph Deficiency	DPYSD
Dihydrouracil Amidohydrolase Deficiency	Dihydropyrimidinuria Due To Dpys Deficiency

Blepharophimosis, Ptosis, And Epicanthus Inversus

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome	BPES
Blepharophimosis Syndrome	Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome	Bpes With Duane Retraction Syndrome
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2	Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1
Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2	Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2	Bpes Type 2
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure	Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
3q23 Microdeletion Syndrome	Bpes Plus
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1	Bpes Type 1
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure	Blepharophimosis, Ptosis, Epicanthus Inversus
Autosomal Dominant Bpes Type I	Autosomal Recessive Bpes Type I
Bpes Type I	Bpes Type Ii
Bpes Without Ovarian Failure	Bpes With Ovarian Failure
Blepharophimosis Syndrome Type 1	Blepharophimosis Syndrome Type 2

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13587	SOX14 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SOX14	RGD	RGD:1309654
Mus musculus	SOX14	MGD	MGI:98362
Macaca mulatta	SOX14	VGNC	VGNC:77840
Bos taurus	SOX14	VGNC	VGNC:106946
Felis catus	SOX14	VGNC	VGNC:102847

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