SIX5 - SIX homeobox 5 Gene

Also Known as BOR2; DMAHP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 147912

About SIX5

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:45,764,785-45,769,252 (from NCBI)

This gene has 3 transcripts (splice variants), 264 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 8.6), prostate (RPKM 7.4) and 24 other tissues.

Summary

The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]

SIX5 Products (1)

mRNA	Protein	Name
NM_175875.5	NP_787071.3	homeobox protein SIX5

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16713569	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SIX5 Protein Structure

Homeobox

0
200
400
600
739 a.a.

Protein Preferred Names	Protein Names
homeobox protein SIX5	DM locus-associated homeodomain protein

SIX5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SIX5	Q8N196	ATXN1	Homo sapiens	P54253	Y2H	16713569

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Branchiootorenal Syndrome 2	BOR2 Bor Syndrome 2 Branchiootorenal Dysplasia 2 Branchio-Oto-Renal Dysplasia 2 Branchio-Oto-Renal Syndrome Type 2 Branchiootorenal Syndrome, Type 2
Branchiootorenal Syndrome	Branchio-Oto-Renal Syndrome Bor Syndrome Branchiootorenal Dysplasia Melnick-Fraser Syndrome Branchiootorenal Spectrum Disorders Branchio-Otorenal Dysplasia Branchio Oto Renal Syndrome Branchiootorenal/Branchiootic Syndrome Bo Syndrome Bor Bos Branchio-Otorenal Syndrome Branchiootic Syndrome Branchiootorenal Syndrome Branchiootic Syndrome 1
Atrophy Of Testis	Atrophic Testicle Atrophy Of Testicle Testicular Atrophy
Myotonic Dystrophy 1	Myotonic Dystrophy Dystrophia Myotonica Steinert Disease Myotonic Dystrophy Type 1 Myotonia Atrophica DM1 Congenital Myotonic Dystrophy Myotonia Dystrophica Steinert Myotonic Dystrophy Dystrophia Myotonica 1 Dm Steinert'S Disease Steinert Myotonic Dystrophy Syndrome Myotonic Dystrophy Of Steinert Dystrophia Myotonica Type 1 Myotonic Dystrophy Congenital Dystrophy, Myotonic, Type 1 Dm - [Dystrophia Myotonica] Myotonic Muscular Dystrophy
Branchiootic Syndrome	Bo Syndrome Branchiootic Dysplasia Bor Bo Syndrome 1 Bos1 Branchiootic Syndrome 1
Adult Acute Monocytic Leukemia	Adult Acute Monoblastic And Acute Monocytic Leukemia
Patulous Eustachian Tube	Pet
Myotonic Disease	Myotonic Disorders Myotonic Syndrome Symptomatic Myotonia
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Papillorenal Syndrome	Renal Coloboma Syndrome Coloboma Of Optic Nerve With Renal Disease Renal-Coloboma Syndrome Optic Nerve Coloboma With Renal Disease Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies Renal-Coloboma Syndrome With Macular Abnormalities Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities Cakut With Or Without Ocular Abnormalities PAPRS Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease Coloboma-Ureteral-Renal Syndrome Oncr Optic Nerve Coloboma Renal Syndrome Rcs Papillo-Renal Syndrome Optic Coloboma Vesicoureteral Reflux And Renal Anomalies
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Myotonic Dystrophy 2	Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy Promm Ricker Syndrome DM2 Dystrophia Myotonica 2 Myotonic Myopathy, Proximal Myotonic Disorders Dystrophia Myotonica Type 2 Proximal Myotonic Dystrophy Ricker Disease Myotonic Dystrophy, Type 2 Dystrophy, Myotonic, Type 2
Lacrimal Duct Obstruction	Blocked Lacrimal Canaliculus Obstruction Of Lacrimal Canaliculus Obstruction Of Lacrimal Ducts
Townes-Brocks Syndrome	Townes Syndrome Renal-Ear-Anal-Radial Syndrome Anus, Imperforate, With Hand, Foot And Ear Anomalies Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome Rear Syndrome Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs Tbs Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs Imperforate Anus With Hand, Foot And Ear Anomalies Anal-Ear-Renal-Radial Malformation Syndrome Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Imperforate Anus-Hand And Foot Anomalies Syndrome Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Eustachian Tube Disease	Eustachian Tube Disorder Auditory Tube Disorder Disease Of Eustachian Tube Eustachian Tube Dysfunction Et- [Eustachian Tube Disorder] Etd - [Eustachian Tube Dysfunction]
Congenital Anomalies Of Kidney And Urinary Tract 2	CAKUT2 Ureteropelvic Junction Obstruction Multicystic Renal Dysplasia, Bilateral Pelviureteric Junction Obstruction Pujo Hydronephrosis Due To Pujo Upjo Mcrd Congenital Anomalies Of The Kidney And Urinary Tract 2 Mrd Pelvi-Ureteric Junction Obstruction Kidney And Urinary Tract, Anomalies, Congenital, Type 2 Obstruction Of Pelviureteric Junction
Deafness, Autosomal Dominant 10	DFNA10 Autosomal Dominant Nonsyndromic Deafness 10 Autosomal Dominant Deafness 10 Deafness, Autosomal Dominant, 10 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10 Deafness, Autosomal Dominant, Type 10
Renal Hypoplasia
Skin Tag	Fibroepithelial Polyp Fibroepithelial Polyp Of Skin Soft Fibroma Skin Tags Cutaneous Tag Gardner Fibroma Acrochordon Fibroma Molle
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Lens Disease	Lens Diseases
Vesicoureteral Reflux	Vesico-Ureteral Reflux
Renal Hypodysplasia/Aplasia 1	Renal Agenesis Renal Adysplasia Renal Aplasia RHDA1 Hereditary Renal Aplasia Hra Hereditary Urogenital Adysplasia Hypodysplasia/Aplasia, Renal, Type 1 Congenital Absence Of Kidneys Syndrome Congenital Absence Of Kidney Aplastic Kidney

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12962	SIX5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21435	Six5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27953	Six5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SIX5	VGNC	VGNC:53984
Mus musculus	SIX5	MGD	MGI:106220
Felis catus	SIX5	VGNC	VGNC:65165
Rattus norvegicus	SIX5	RGD	RGD:1305040
Bos taurus	SIX5	VGNC	VGNC:34641
Others	SIX5	NCBI