Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6496
Gene name Gene Name - the full gene name approved by the HGNC.
SIX homeobox 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SIX3
Synonyms (NCBI Gene) Gene synonyms aliases
HPE2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HPE2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p21
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT612491 hsa-miR-339-5p HITS-CLIP 19536157
MIRT612490 hsa-miR-6748-3p HITS-CLIP 19536157
MIRT612489 hsa-miR-3679-3p HITS-CLIP 19536157
MIRT612488 hsa-miR-4446-5p HITS-CLIP 19536157
MIRT635884 hsa-miR-10a-3p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
PAX6 Activation 11554737
PROX1 Activation 11554737
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 18836447
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603714 10889 ENSG00000138083
Protein
UniProt ID O95343
Protein name Homeobox protein SIX3 (Sine oculis homeobox homolog 3)
Protein function Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes. During forebrain development represses WNT1 expression allowing zona limitan
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16878 SIX1_SD 87 201 Transcriptional regulator, SIX1, N-terminal SD domain Domain
PF00046 Homeodomain 207 263 Homeodomain Domain
Sequence
MVFRSPLDLYSSHFLLPNFADSHHRSILLASSGGGNGAGGGGGAGGGSGGGNGAGGGGAG
GAGGGGGGGSRAPPEELSMFQLPTLNFSPEQVASVCETLEETGDIERLGRFLWSLPVAPG
ACEAINKHESILRARAVVAFHTGNFRDLYHILENHKFTKESHGKLQAMWLEAHYQEAEKL
RGRPLGPVDKYRVRKKFPLPR
TIWDGEQKTHCFKERTRSLLREWYLQDPYPNPSKKRELA
QATGLTPTQVGNWFKNRRQRDRA
AAAKNRLQHQAIGPSGMRSLAEPGCPTHGSAESPSTA
ASPTTSVSSLTERADTGTSILSVTSSDSECDV
Sequence length 332
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diabetes insipidus Diabetes Insipidus rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2147483647, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523, rs104894756, rs104894757
View all (33 more)
Hemangioma Hemangioma rs121917766
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Asthma Asthma ClinVar
Diabetes Diabetes GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Bronchiolo Alveolar Associate 23977152
Adenocarcinoma of Lung Inhibit 23977152
Anophthalmia with pulmonary hypoplasia Associate 11826019
Astrocytoma Associate 33051600
Breast Neoplasms Inhibit 29463994
Carcinogenesis Associate 23977152
Carcinogenesis Inhibit 29463994
Carcinoma Non Small Cell Lung Associate 33264103
Central Nervous System Vascular Malformations Associate 22310223
Colorectal Neoplasms Associate 19723660