SOX14 - SRY-box transcription factor 14 Gene

Also Known as SOX28

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8403

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

HMG_box: HMG (high mobility group) box (8 - 76)

SOXp

SOXp: SOX transcription factor (77 - 95)

  • 0
  • 100
  • 200
  • 240 a.a.
Protein Preferred Names Protein Names

transcription factor SOX-14

  • HMG box transcription factor SOX-14

SOX14 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
SOX14 O95416 NAIF1 Homo sapiens Q69YI7 25416956
Intra
SOX14 O95416 NAIF1 Homo sapiens Q69YI7 25416956
Intra
SOX14 O95416 UQCRC1 Homo sapiens P31930 32814053
Intra
SOX14 O95416 UQCRC1 Homo sapiens P31930 32814053
Intra
SOX14 O95416 UQCRC1 Homo sapiens P31930 32814053
Intra
SOX14 O95416 KRTAP15-1 Homo sapiens Q3LI76 32296183
Intra
SOX14 O95416 KRTAP15-1 Homo sapiens Q3LI76 32296183
Intra
SOX14 O95416 KRTAP15-1 Homo sapiens Q3LI76 32296183
Intra
SOX14 O95416 HTT Homo sapiens P42858 32814053
Intra
SOX14 O95416 HTT Homo sapiens P42858 32814053
Intra
SOX14 O95416 HTT Homo sapiens P42858 32814053
Intra
SOX14 O95416 NR3C1 Homo sapiens P04150 32814053
Intra
SOX14 O95416 NR3C1 Homo sapiens P04150 32814053
Intra
SOX14 O95416 NR3C1 Homo sapiens P04150 32814053
Intra
SOX14 O95416 ROR2 Homo sapiens Q01974 32296183
Intra
SOX14 O95416 SPMIP9 Homo sapiens Q96LM6 32296183
Intra
SOX14 O95416 SPMIP9 Homo sapiens Q96LM6 32296183
Intra
SOX14 O95416 SPMIP9 Homo sapiens Q96LM6 32296183
Intra
SOX14 O95416 CRX Homo sapiens O43186 32296183
Intra
SOX14 O95416 CRX Homo sapiens O43186 32296183
Intra
SOX14 O95416 ATXN1 Homo sapiens P54253 32814053
Intra
SOX14 O95416 ATXN1 Homo sapiens P54253 32814053
Intra
SOX14 O95416 ATXN1 Homo sapiens P54253 32814053
Intra
SOX14 O95416 ATXN3 Homo sapiens P54252 32814053
Intra
SOX14 O95416 ATXN3 Homo sapiens P54252 32814053
Intra
SOX14 O95416 ATXN3 Homo sapiens P54252 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others SOX14 NCBI