SIX6 SIX homeobox 6 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: SIX6provided by VGNC
Official Full Name: SIX homeobox 6provided by VGNC
Primary source: VGNC:VGNC:51685
See related: Ensembl:ENSCAFG00845022479
Gene type: protein coding
RefSeq status: MODEL
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 8

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	8	NC_051812.1 (35799002..35801808)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	8	NC_006590.4 (35319324..35322130)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	8	NC_049229.1 (35849383..35852189)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	8	NC_049268.1 (35410717..35413523)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	8	NC_049749.1 (35488932..35491738)

Chromosome 8 - NC_051812.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This strongly suggests that the c.487C>T variant detected contributed to the observed eye malformations. We hypothesize that the residual amount of functional SIX6 protein likely to be expressed in heterozygous dogs is sufficient to explain the observed incomplete penetrance and the varying severity of the eye defects in the affected dogs.
Title: A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations.

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General gene information

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Markers

Six6 (e-PCR), detects polymorphism
- UniSTS:527037

Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in eye development	IEA Inferred from Electronic Annotation more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IEA Inferred from Electronic Annotation more info	PubMed
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: homeobox protein SIX6

Names: sine oculis homeobox homolog 6

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference ROS_Cfam_1.0

Genomic

NC_051812.1 Reference ROS_Cfam_1.0

Range

35799002..35801808

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_038673788.1 → XP_038529716.1 homeobox protein SIX6

UniProtKB/TrEMBL

A0A8C0K4C8, A0A8C0QBD7, A0A8I3PIU9

Related

ENSCAFP00845031087.1, ENSCAFT00845039684.1

Conserved Domains (2) summary

cd00086
Location:130 → 178

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam16878
Location:9 → 122

SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

Alternate UMICH_Zoey_3.1

Genomic

NC_049268.1 Alternate UMICH_Zoey_3.1

Range

35410717..35413523

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_038483406.1 → XP_038339334.1 homeobox protein SIX6

Conserved Domains (2) summary

cd00086
Location:130 → 178

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam16878
Location:9 → 122

SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

Alternate UNSW_CanFamBas_1.0

Genomic

NC_049749.1 Alternate UNSW_CanFamBas_1.0

Range

35488932..35491738

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_038608984.1 → XP_038464912.1 homeobox protein SIX6

Conserved Domains (2) summary

cd00086
Location:130 → 178

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam16878
Location:9 → 122

SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

Alternate UU_Cfam_GSD_1.0

Genomic

NC_049229.1 Alternate UU_Cfam_GSD_1.0

Range

35849383..35852189

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_038544871.1 → XP_038400799.1 homeobox protein SIX6

UniProtKB/TrEMBL

A0A8C0K4C8, A0A8C0QBD7, A0A8I3PIU9

Conserved Domains (2) summary

cd00086
Location:130 → 178

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam16878
Location:9 → 122

SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

Alternate Dog10K_Boxer_Tasha Primary Assembly

Genomic

NC_006590.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

Range

35319324..35322130

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_547840.7 → XP_547840.3 homeobox protein SIX6

See identical proteins and their annotated locations for XP_547840.3

UniProtKB/TrEMBL

A0A8C0K4C8, A0A8C0QBD7, A0A8I3PIU9

Conserved Domains (2) summary

cd00086
Location:130 → 178

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam16878
Location:9 → 122

SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain