ENSG00000165821


Homo sapiens

Features
Gene ID: ENSG00000165821
  
Biological name :SALL2
  
Synonyms : Q9Y467 / SALL2 / spalt like transcription factor 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q11.2
Gene start: 21521081
Gene end: 21537216
  
Corresponding Affymetrix probe sets: 213283_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000440054
Ensembl peptide - ENSP00000439654
Ensembl peptide - ENSP00000483202
Ensembl peptide - ENSP00000484460
Ensembl peptide - ENSP00000483562
Ensembl peptide - ENSP00000396773
Ensembl peptide - ENSP00000438493
NCBI entrez gene - 6297     See in Manteia.
OMIM - 602219
RefSeq - XM_011537065
RefSeq - NM_001291446
RefSeq - NM_001291447
RefSeq - NM_005407
RefSeq - XM_011537064
RefSeq Peptide - NP_001278375
RefSeq Peptide - NP_001278376
RefSeq Peptide - NP_005398
swissprot - E7EW59
swissprot - A0A0B4J2F7
swissprot - F5H1G6
swissprot - H0YFS7
swissprot - F5H433
swissprot - Q9Y467
swissprot - A0A087X1T9
Ensembl - ENSG00000165821
  
Related genetic diseases (OMIM): 216820 - ?Coloboma, ocular, autosomal recessive, 216820

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sall2ENSDARG00000075116Danio rerio
 si:ch211-212k18.5ENSDARG00000103316Danio rerio
 Sall2ENSMUSG00000049532Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SALL3 / Q9BXA9 / spalt like transcription factor 3ENSG0000025646333
SALL1 / Q9NSC2 / spalt like transcription factor 1ENSG0000010344932
SALL4 / Q9UJQ4 / spalt like transcription factor 4ENSG0000010111526


Protein motifs (from Interpro)
Interpro ID Name
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR013087  Zinc finger C2H2-type
 IPR036236  Zinc finger C2H2 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001654 eye development IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IBA
 biological_processGO:0007165 signal transduction IBA
 biological_processGO:0021915 neural tube development IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0016581 NuRD complex IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IBA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IBA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000565 Esotropia 
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 HP:0000577 Exotropia 
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 HP:0000589 Coloboma "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson]
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 HP:0001132 Lens subluxation "Partial dislocation of the lens of the eye." [HPO:curators]
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 HP:0007663 Decreased central vision 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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