Six5 MGI Mouse Gene Detail - MGI:106220 - sine oculis-related homeobox 5

Symbol

Six5
Name

sine oculis-related homeobox 5
Synonyms

Dmahp, MDMAHP, TrexBF

Feature Type

protein coding gene
IDs

MGI:106220
NCBI Gene: 20475
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr7:18828519-18832474 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 9.46 cM
Mapping Data

2 experiments

SNPs within 2kb

76 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_106220	protein coding gene	Chr7:18828469-18832474 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031758	protein coding gene	Chr7:17047654-17051606 (+)
A/J	MGP_AJ_G0031734	protein coding gene	Chr7:16734806-16738760 (+)
AKR/J	MGP_AKRJ_G0031660	protein coding gene	Chr7:17193688-17197642 (+)
BALB/cJ	MGP_BALBcJ_G0031739	protein coding gene	Chr7:16928182-16932136 (+)
C3H/HeJ	MGP_C3HHeJ_G0031461	protein coding gene	Chr7:17453756-17457734 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032205	protein coding gene	Chr7:17938048-17941820 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029271	protein coding gene	Chr7:18383335-18387299 (+)
CAST/EiJ	MGP_CASTEiJ_G0030804	protein coding gene	Chr7:13855384-13859336 (+)
CBA/J	MGP_CBAJ_G0031423	protein coding gene	Chr7:18586289-18590265 (+)
DBA/2J	MGP_DBA2J_G0031578	protein coding gene	Chr7:16670464-16674418 (+)
FVB/NJ	MGP_FVBNJ_G0031530	protein coding gene	Chr7:16534741-16538692 (+)
LP/J	MGP_LPJ_G0031661	protein coding gene	Chr7:17390845-17396310 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031566	protein coding gene	Chr7:18449872-18453824 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032233	protein coding gene	Chr7:16800626-16804580 (+)
PWK/PhJ	MGP_PWKPhJ_G0030528	protein coding gene	Chr7:13759331-13763281 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0030355	protein coding gene	Chr7:11484625-11488583 (+)
WSB/EiJ	MGP_WSBEiJ_G0030904	protein coding gene	Chr7:17005847-17009801 (+)

Human Ortholog

SIX5, SIX homeobox 5

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SIX5, SIX homeobox 5
Synonyms

BOR2, DMAHP
Links

HGNC:10891

NCBI Gene ID: 147912

neXtProt AC: NX_Q8N196

UniProt: Q8N196
Chr Location

19q13.32; chr19:45764785-45769252 (-) GRCh38

MGI Vertebrate Homology

Six5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SIX5
Gene Tree

Six5

Diseases

1 with human SIX5 associations

				Human Disease	Mouse Models
				branchiootorenal syndrome 2 IDs branchiootorenal syndrome 2 DOID:0111424 OMIM:610896

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

16 phenotypes from 2 alleles in 3 genetic backgrounds
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

4
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mutants exhibit a high incidence of progressive cataracts with background-dependent penetrance. Heterozygotes exhibit a similar phenotype, but with reduced incidence and severity.

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All GO Annotations

27
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

897
Tissues

172
cDNA Data

15
Literature Summary

18

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN six5

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All Sequences

30
RefSeq

4
UniProt

1
CCDS

CCDS20889.1

Ensembl

ENSMUSG00000040841 (Evidence)
NCBI Gene

20475

			Length	Strain/Species	Flank
genomic	ENSMUSG00000040841	Ensembl Gene Model \| MGI Sequence Detail	3956	C57BL/6J	± kb
transcript	ENSMUST00000049454	Ensembl \| MGI Sequence Detail	3007	Not Applicable
polypeptide	ENSMUSP00000045973	Ensembl \| MGI Sequence Detail	719	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000014900 homeobox protein SIX5

(term hierarchy)
InterPro Domains

IPR017970 Homeobox, conserved site

IPR001356 Homeobox domain

IPR009057 Homeobox-like domain superfamily

IPR031701 Homeobox protein SIX1, N-terminal SD domain

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All nucleic 23

Genomic 2

cDNA 15

Primer pair 5

Other 1

Microarray probesets 3

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MGD-MRK-33912

Summaries

All 55

Developmental Gene Expression 18

Gene Ontology 10

Phenotypes 12
Earliest

J:31986 Boucher CA, et al., A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum Mol Genet. 1995 Oct;4(10):1919-25
Latest

J:336860 Wurmser M, et al., Overlapping functions of SIX homeoproteins during embryonic myogenesis. PLoS Genet. 2023 Jun;19(6):e1010781

TSS for Six5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr64782	Chr7:18826895-18826907 (+)	-1,618 bp
Tssr64783	Chr7:18828540-18828558 (+)	30 bp
Tssr64784	Chr7:18828639-18828664 (+)	133 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24