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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10736
Gene name Gene Name - the full gene name approved by the HGNC.	SIX homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SIX2
Synonyms (NCBI Gene) Gene synonyms aliases	-
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 is a member of the vertebrate gene family which encode proteins homologous to the Drosophila `sine oculis` homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs756635283	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT438371	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24055707
MIRT438371	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24055707
MIRT438371	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24055707
MIRT438371	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24055707
MIRT1350379	hsa-miR-185	CLIP-seq
MIRT1350380	hsa-miR-4306	CLIP-seq
MIRT1350381	hsa-miR-4419a	CLIP-seq
MIRT1350382	hsa-miR-4510	CLIP-seq
MIRT1350383	hsa-miR-4644	CLIP-seq
MIRT2103832	hsa-miR-3150b-3p	CLIP-seq
MIRT2103833	hsa-miR-4433	CLIP-seq
MIRT2103834	hsa-miR-4459	CLIP-seq
MIRT2103835	hsa-miR-4768-3p	CLIP-seq
MIRT2103836	hsa-miR-4784	CLIP-seq
MIRT2103837	hsa-miR-765	CLIP-seq

Show/Hide all(39)

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: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
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001822	Process	Kidney development	IBA	21873635
GO:0001822	Process	Kidney development	IMP	18305125
GO:0001822	Process	Kidney development	ISS
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0003337	Process	Mesenchymal to epithelial transition involved in metanephros morphogenesis	ISS
GO:0003700	Function	DNA-binding transcription factor activity	NAS	10773454
GO:0005515	Function	Protein binding	IPI	30894749, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005667	Component	Transcription regulator complex	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006606	Process	Protein import into nucleus	IEA
GO:0007501	Process	Mesodermal cell fate specification	ISS
GO:0008134	Function	Transcription factor binding	IEA
GO:0008283	Process	Cell population proliferation	IDA	22995329
GO:0009653	Process	Anatomical structure morphogenesis	TAS	10773454
GO:0009948	Process	Anterior/posterior axis specification	ISS
GO:0016477	Process	Cell migration	IDA	22995329
GO:0030278	Process	Regulation of ossification	IEA
GO:0032330	Process	Regulation of chondrocyte differentiation	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	ISS
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0072006	Process	Nephron development	ISS
GO:0072028	Process	Nephron morphogenesis	ISS
GO:0072038	Process	Mesenchymal stem cell maintenance involved in nephron morphogenesis	ISS
GO:0072137	Process	Condensed mesenchymal cell proliferation	IEA
GO:0072161	Process	Mesenchymal cell differentiation involved in kidney development	ISS
GO:0090189	Process	Regulation of branching involved in ureteric bud morphogenesis	ISS
GO:0097168	Process	Mesenchymal stem cell proliferation	ISS
GO:1902732	Process	Positive regulation of chondrocyte proliferation	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
604994	10888	ENSG00000170577

Protein

UniProt ID

Q9NPC8

Protein name

Homeobox protein SIX2 (Sine oculis homeobox homolog 2)

Protein function

Transcription factor that plays an important role in the development of several organs, including kidney, skull and stomach. During kidney development, maintains cap mesenchyme multipotent nephron progenitor cells in an undifferentiated state by

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16878	SIX1_SD	9 → 119	Transcriptional regulator, SIX1, N-terminal SD domain	Domain
PF00046	Homeodomain	127 → 181	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in skeletal muscle. Expressed in Wilms' tumor and in the cap mesenchyme of fetal kidney (at protein level). {ECO:0000269|PubMed:22703800}.

Sequence

MSMLPTFGFTQEQVACVCEVLQQGGNIERLGRFLWSLPACEHLHKNESVLKAKAVVAFHR
GNFRELYKILESHQFSPHNHAKLQQLWLKAHYIEAEKLRGRPLGAVGKYRVRRKFPLPRS
IWDGEETSYCFKEKSRSVLREWYAHNPYPSPREKRELAEATGLTTTQVSNWFKNRRQRDR
AAEAKERENNENSNSNSHNPLNGSGKSVLGSSEDEKTPSGTPDHSSSSPALLLSPPPPGL
PSLHSLGHPPGPSAVPVPVPGGGGADPLQHHHGLQDSILNPMSANLVDLGS

Sequence length

291

Interactions

View interactions

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Familial	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733 View all (171 more)	11796754
Congenital anomalies of kidney and urinary tract	Cakut	rs267606865, rs121908436, rs281875326, rs879255515, rs75462234, rs869320679, rs760905589, rs797045022, rs869320624, rs745597204, rs1114167358, rs1555879360, rs1577330805, rs1008555507	24429398
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	18570229
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	11796754
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796	28825729
Wilms tumor	Bilateral Wilms Tumor	rs121918261, rs2116574924, rs587776573, rs587776574, rs121907900, rs121907901, rs587776576, rs121907909, rs121907906, rs587776577, rs121907911, rs80359604, rs80358785, rs104894855, rs122453119 View all (13 more)	28825729

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Ptosis	Blepharoptosis, Ptosis			ClinVar

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	31420918
Cakut	Associate	24429398, 37499630
Carcinoma Hepatocellular	Associate	27212161
Carcinoma Renal Cell	Associate	31420918, 34051738
Colorectal Neoplasms	Associate	34526059
Diabetes Mellitus	Associate	33446570
Diabetes Mellitus Type 2	Associate	29621232, 33893274
Hearing Loss Conductive	Associate	27383657
Holoprosencephaly	Associate	20531442
Hyperglycemia	Associate	27133132
Kidney Diseases	Associate	35341793
Kidney Failure Chronic	Associate	27101813
Neoplasms	Associate	25670082, 25670083, 25921281, 37114795, 37815464
Oculocerebrorenal Syndrome	Associate	29444177
Ptosis Hereditary Congenital 2	Associate	27383657
Squamous Cell Carcinoma of Head and Neck	Associate	24519855
Thyroid Neoplasms	Associate	32631391
Wilms Tumor	Associate	22703800, 25670082, 25670083, 25921281, 26802027, 28825729, 30155617, 37114795

SIX2 (SIX homeobox 2)