SALL2
entrez
6297
canonical
uniprot
Q9Y467
canonical
ensembl
ENSG00000165821
resolver
ensp
ENSP00000396773
resolver
ensp
ENSP00000438493
resolver
ensp
ENSP00000440054
resolver
ensp
ENSP00000483562
resolver
enst
ENST00000450879
resolver
enst
ENST00000537235
resolver
genesymbol
SALL2
resolver
genesymbol_syn
KIAA0360
resolver
genesymbol_syn
SAL2
resolver
genesymbol_syn
ZNF795
resolver
hgnc
HGNC:10526
resolver
uniprot
B2RMX6
resolver
uniprot
B4DK65
resolver
uniprot
B9EGK8
resolver
uniprot
E7EW59
resolver
uniprot
F5H433
resolver
uniprot
Q8N656
resolver
uniprot
Q9Y4G1
resolver
uniprot_entry
B4DK65_HUMAN
resolver
uniprot_entry
E7EW59_HUMAN
resolver
uniprot_entry
F5H433_HUMAN
resolver
uniprot_entry
SALL2_HUMAN
resolver
uniprot_sec
B2RMX6
resolver
uniprot_sec
B9EGK8
resolver
uniprot_sec
Q8N656
resolver
uniprot_sec
Q9Y4G1
resolver
amino_acid_sequence
MSRRKQRKPQQLISDCEGPSASENGDASEEDHPQVCAKCCAQFTDPTEFLAHQNACSTDPPVMVIIGGQENPNNSSASSEPRPEGHNNPQVMDTEHSNPPDSGSSVPTDPTWGPERRGEESSGHFLVAATGTAAGGGGGLILASPKLGATPLPPESTPAPPPPPPPPPPPGVGSGHLNIPLILEELRVLQQRQIHQMQMTEQICRQVLLLGSLGQTVGAPASPSELPGTGTASSTKPLLPLFSPIKPVQTSKTLASSSSSSSSSSGAETPKQAFFHLYHPLGSQHPFSAGGVGRSHKPTPAPSPALPGSTDQLIASPHLAFPSTTGLLAAQCLGAARGLEATASPGLLKPKNGSGELSYGEVMGPLEKPGGRHKCRFCAKVFGSDSALQIHLRSHTGERPYKCNVCGNRFTTRGNLKVHFHRHREKYPHVQMNPHPVPEHLDYVITSSGLPYGMSVPPEKAEEEAATPGGGVERKPLVASTTALSATESLTLLSTSAGTATAPGLPAFNKFVLMKAVEPKNKADENTPPGSEGSAISGVAESSTATRMQLSKLVTSLPSWALLTNHFKSTGSFPFPYVLEPLGASPSETSKLQQLVEKIDRQGAVAVTSAASGAPTTSAPAPSSSASSGPNQCVICLRVLSCPRALRLHYGQHGGERPFKCKVCGRAFSTRGNLRAHFVGHKASPAARAQNSCPICQKKFTNAVTLQQHVRMHLGGQIPNGGTALPEGGGAAQENGSEQSTVSGARSFPQQQSQQPSPEEELSEEEEEEDEEEEEDVTDEDSLAGRGSESGGEKAISVRGDSEEASGAEEEVGTVAAAATAGKEMDSNEKTTQQSSLPPPPPPDSLDQPQPMEQGSSGVLGGKEEGGKPERSSSPASALTPEGEATSVTLVEELSLQEAMRKEPGESSSRKACEVCGQAFPSQAALEEHQKTHPKEGPLFTCVFCRQGFLERATLKKHMLLAHHQVQPFAPHGPQNIAALSLVPGCSPSITSTGLSPFPRKDDPTIP
uniprot
proteins
disease_involvement
DISEASE: Coloboma, ocular, autosomal recessive (COAR) [MIM:216820]: An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. {ECO:0000269|PubMed:24412933}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure. {ECO:0000269|PubMed:24412933}.
uniprot
proteins
mass_dalton
105399
uniprot
proteins
protein_family
Sal C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16545361
uniprot
proteins
pubmed
18655026
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24412933
uniprot
proteins
pubmed
8975705
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
1007
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins