Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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.	4990
Gene name Gene Name - the full gene name approved by the HGNC.	SIX homeobox 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SIX6
Synonyms (NCBI Gene) Gene synonyms aliases	MCOPCT2, ODRMD, OPTX2, Six9
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q23.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a homeobox protein that is similar to the Drosophila `sine oculis` gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs146737847	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs786204851	T>C	Pathogenic	Coding sequence variant, missense variant
rs786205142	AACCG>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1594631582	G>C	Pathogenic	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016717	hsa-miR-335-5p	Microarray	18185580
MIRT025083	hsa-miR-181a-5p	Microarray	17612493
MIRT647452	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT647451	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT647450	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT647449	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT647448	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT647447	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT647446	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT647445	hsa-miR-3665	HITS-CLIP	23824327
MIRT647444	hsa-miR-657	HITS-CLIP	23824327
MIRT647443	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT647442	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT647441	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT647440	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT647439	hsa-miR-6511b-5p	HITS-CLIP	23824327
MIRT647438	hsa-miR-6811-5p	HITS-CLIP	23824327
MIRT647436	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT647437	hsa-miR-6516-5p	HITS-CLIP	23824327
MIRT647452	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT647451	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT647450	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT647449	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT647448	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT647447	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT647446	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT647445	hsa-miR-3665	HITS-CLIP	23824327
MIRT647444	hsa-miR-657	HITS-CLIP	23824327
MIRT647443	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT647442	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT647441	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT647440	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT647439	hsa-miR-6511b-5p	HITS-CLIP	23824327
MIRT647438	hsa-miR-6811-5p	HITS-CLIP	23824327
MIRT647436	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT647437	hsa-miR-6516-5p	HITS-CLIP	23824327
MIRT2103887	hsa-miR-3151	CLIP-seq
MIRT2103888	hsa-miR-3180	CLIP-seq
MIRT2103889	hsa-miR-3180-3p	CLIP-seq
MIRT2103890	hsa-miR-3196	CLIP-seq
MIRT2103891	hsa-miR-3648	CLIP-seq
MIRT2103892	hsa-miR-4651	CLIP-seq
MIRT2103893	hsa-miR-608	CLIP-seq
MIRT2103887	hsa-miR-3151	CLIP-seq
MIRT2103888	hsa-miR-3180	CLIP-seq
MIRT2103889	hsa-miR-3180-3p	CLIP-seq
MIRT2103890	hsa-miR-3196	CLIP-seq
MIRT2103891	hsa-miR-3648	CLIP-seq
MIRT2103892	hsa-miR-4651	CLIP-seq
MIRT2103893	hsa-miR-608	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
NKX3-1	Unknown	22848398

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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
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	18836447
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001654	Process	Eye development	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10512683
GO:0009887	Process	Animal organ morphogenesis	TAS	10512683
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
606326	10892	ENSG00000184302

Protein

UniProt ID

O95475

Protein name

Homeobox protein SIX6 (Homeodomain protein OPTX2) (Optic homeobox 2) (Sine oculis homeobox homolog 6)

Protein function

May be involved in eye development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16878	SIX1_SD	9 → 123	Transcriptional regulator, SIX1, N-terminal SD domain	Domain
PF00046	Homeodomain	129 → 185	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the developing and adult retina. Also expressed in the hypothalamic and the pituitary regions.

Sequence

MFQLPILNFSPQQVAGVCETLEESGDVERLGRFLWSLPVAPAACEALNKNESVLRARAIV
AFHGGNYRELYHILENHKFTKESHAKLQALWLEAHYQEAEKLRGRPLGPVDKYRVRKKFP
LPRTIWDGEQKTHCFKERTRHLLREWYLQDPYPNPSKKRELAQATGLTPTQVGNWFKNRR
QRDRAAAAKNRLQQQVLSQGSGRALRAEGDGTPEVLGVATSPAASLSSKAATSAISITSS
DSECDI

Sequence length

246

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome	colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	rs786205142, rs786204851, rs748077751	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia-microphthalmia syndrome	N/A	N/A	ClinVar
Glaucoma	Glaucoma	N/A	N/A	GWAS
Retinal Dystrophy	inherited retinal dystrophy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anterior segment mesenchymal dysgenesis	Associate	35693420
Astrocytoma	Associate	26497896
Branchio Oto Renal Syndrome	Associate	18666230
Cataract	Associate	29692399, 35693420
Cataract microcornea syndrome	Associate	35693420
Coloboma	Associate	20057906, 35693420
Corneal Diseases	Associate	35693420
Exfoliation Syndrome	Associate	36596020
Eye Diseases Hereditary	Associate	35693420
Glaucoma	Associate	25537207, 28663559, 30005032, 32719476, 38241218
Glaucoma Open Angle	Associate	21398277, 23963167, 24875647, 25242315, 25414181, 25537207, 25798827, 29261660, 29452408, 30005032, 32557945, 36596020, 38241218
Goldenhar Syndrome	Associate	18666230
Lung Neoplasms	Associate	31526458
Microphthalmos	Associate	20057906, 29692399, 35693420
Neoplasms	Inhibit	28924151
Neoplasms	Associate	29746601
Periodontitis	Associate	35397550
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	15774621
Refractive Errors	Associate	36137074
Scotoma	Associate	28663559
Vision Disorders	Associate	24875647

SIX6 (SIX homeobox 6)