SALL2 (spalt like transcription factor 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6297
Gene name Gene Name - the full gene name approved by the HGNC.
Spalt like transcription factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SALL2
Synonyms (NCBI Gene) Gene synonyms aliases
COLB, HSAL2, Sal-2, ZNF795, p150(Sal2)
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs587776429 C>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(150)
miRTarBase ID miRNA Experiments Reference
MIRT052046 hsa-let-7b-5p CLASH 23622248
MIRT048695 hsa-miR-99a-5p CLASH 23622248
MIRT043322 hsa-miR-331-3p CLASH 23622248
MIRT042308 hsa-miR-484 CLASH 23622248
MIRT039723 hsa-miR-615-3p CLASH 23622248
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
TFAP4 Activation 21228219
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 21362508
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 21362508
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IMP 21362508
GO:0001654 Process Eye development IDA 24412933
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602219 10526 ENSG00000165821
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y467
Protein name Sal-like protein 2 (Zinc finger protein 795) (Zinc finger protein SALL2) (Zinc finger protein Spalt-2) (Sal-2) (hSal2)
Protein function Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 401 → 423 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 659 → 681 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 692 → 713 Zinc finger, C2H2 type Domain
PF13912 zf-C2H2_6 912 → 936 Domain
Tissue specificity TISSUE SPECIFICITY: Highest levels in adult brain (in different areas). Lower levels in heart; very low levels in kidney and pancreas. Expressed throughout the retina and lens vesicle as well as the periocular mesenchyme. {ECO:0000269|PubMed:24412933}.
Sequence 
MSRRKQRKPQQLISDCEGPSASENGDASEEDHPQVCAKCCAQFTDPTEFLAHQNACSTDP
PVMVIIGGQENPNNSSASSEPRPEGHNNPQVMDTEHSNPPDSGSSVPTDPTWGPERRGEE
SPGHFLVAATGTAAGGGGGLILASPKLGATPLPPESTPAPPPPPPPPPPPGVGSGHLNIP
LILEELRVLQQRQIHQMQMTEQICRQVLLLGSLGQTVGAPASPSELPGTGTASSTKPLLP
LFSPIKPVQTSKTLASSSSSSSSSSGAETPKQAFFHLYHPLGSQHPFSAGGVGRSHKPTP
APSPALPGSTDQLIASPHLAFPSTTGLLAAQCLGAARGLEATASPGLLKPKNGSGELSYG
EVMGPLEKPGGRHKCRFCAKVFGSDSALQIHLRSHTGERPYKCNVCGNRFTTRGNLKVHF
HRHREKYPHVQMNPHPVPEHLDYVITSSGLPYGMSVPPEKAEEEAATPGGGVERKPLVAS
TTALSATESLTLLSTSAGTATAPGLPAFNKFVLMKAVEPKNKADENTPPGSEGSAISGVA
ESSTATRMQLSKLVTSLPSWALLTNHFKSTGSFPFPYVLEPLGASPSETSKLQQLVEKID
RQGAVAVTSAASGAPTTSAPAPSSSASSGPNQCVICLRVLSCPRALRLHYGQHGGERPFK
CKVCGRAFSTRGNLRAHFVGHKASPAARAQNSCPICQKKFTNAVTLQQHVRMHLGGQIPN
GGTALPEGGGAAQENGSEQSTVSGAGSFPQQQSQQPSPEEELSEEEEEEDEEEEEDVTDE
DSLAGRGSESGGEKAISVRGDSEEASGAEEEVGTVAAAATAGKEMDSNEKTTQQSSLPPP
PPPDSLDQPQPMEQGSSGVLGGKEEGGKPERSSSPASALTPEGEATSVTLVEELSLQEAM
RKEPGESSSRKACEVCGQAFPSQAALEEHQKTHPKEGPLFTCVFCRQGFLERATLKKHML
LAHHQVQPFAPHGPQNIAALSLVPGCSPSITSTGLSPFPRKDDPTIP
Sequence length 1007
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Coloboma coloboma, ocular, autosomal recessive rs587776429 N/A
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 28187708, 31657150
Carcinogenesis Inhibit 25580951
Carcinogenesis Associate 29228922
Glioblastoma Associate 24726434, 26020805, 29773872, 30497369, 34282187
Neoplasms Inhibit 11577094, 17559306, 21228219, 23273547, 25580951
Neoplasms Associate 23029531, 23273547
Ovarian Neoplasms Associate 23273547, 29228922
Precursor T Cell Lymphoblastic Leukemia Lymphoma Associate 29279377
Sleep Deprivation Associate 17559306
Wilms Tumor Associate 11577094