SALL3 - spalt like transcription factor 3 Gene

Also Known as ZNF796

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27164

About SALL3

Cytogenetic location: 18q23 Genomic coordinates (GRCh38): 18:78,979,818-78,998,969 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 196 orthologues and 14 paralogues. Biased expression in brain (RPKM 1.5), prostate (RPKM 0.7) and 2 other tissues.

Summary

This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA Methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]

SALL3 Products (1)

mRNA Protein Name
NM_171999.4 NP_741996.2 sal-like protein 3

SALL3 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (434 - 459)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (693 - 718)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (739 - 761)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (991 - 1015)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (1127 - 1152)

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Protein Preferred Names Protein Names

sal-like protein 3

  • C2H2 zinc finger protein SALL3

Related Diseases

Diseases Alias
Ivic Syndrome
  • Oculootoradial Syndrome

  • Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, And Thrombocytopenia

  • IVIC

  • Instituto Venezolano De Investigaciones Cientificas Syndrome

  • Oculo-Oto-Radial Syndrome

  • Oors

Duane-Radial Ray Syndrome
  • Okihiro Syndrome

  • DRRS

  • Dr Syndrome

  • Duane Anomaly With Radial Ray Abnormalities And Deafness

  • Acrorenoocular Syndrome

  • Acrorenocular Syndrome

  • Duane Anomaly With Radial Abnormalities And Deafness

  • Acro-Renal-Ocular Syndrome

Ureteral Benign Neoplasm
  • Neoplasm Of Ureter

  • Ureteral Tumor

  • Cancer Of The Ureter

  • Malignant Tumour Of Ureter

  • Ureteric Cancer

  • Primary Malignant Neoplasm Of Ureter

Townes-Brocks Syndrome
  • Townes Syndrome

  • Renal-Ear-Anal-Radial Syndrome

  • Anus, Imperforate, With Hand, Foot And Ear Anomalies

  • Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome

  • Rear Syndrome

  • Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs

  • Tbs

  • Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs

  • Imperforate Anus With Hand, Foot And Ear Anomalies

  • Anal-Ear-Renal-Radial Malformation Syndrome

  • Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

  • Imperforate Anus-Hand And Foot Anomalies Syndrome

  • Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

  • Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs

Chromosome 18q Deletion Syndrome
  • 18q- Syndrome

  • Monosomy 18q

  • Deletion Of Long Arm Of Chromosome 18

  • Chromosome 18q- Syndrome

  • Deletion 18q

  • 18q Deletion Syndrome

  • Distal 18q Deletion Syndrome

  • Chromosome 18 Long Arm Deletion Syndrome

  • Chromosome 18q Monosomy

  • Del Syndrome

  • Chromosome 18 Deletion Syndrome

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 SALL3 RGD RGD:1310232
Macaca mulatta SALL3 VGNC VGNC:76967
Mus musculus SALL3 MGD MGI:109295
Felis catus SALL3 VGNC VGNC:64858
Bos taurus SALL3 VGNC VGNC:106912
Canis familiaris SALL3 VGNC VGNC:49643
Others SALL3 NCBI