ZNF469 - zinc finger protein 469 Gene

Homo sapiens

Also known as BCS; BCS1; Zfp469

Gene ID: 84627 | Gene type: protein coding

About ZNF469

Cytogenetic location: 16q24.2 Genomic coordinates (GRCh38): 16:88,100,931-88,440,753 (from NCBI)

This gene has 2 transcripts (splice variants), 132 orthologues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 1.0), endometrium (RPKM 0.8) and 24 other tissues.

Summary

This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]

ZNF469 Products(1)

mRNA	Protein	Name
NM_001367624.2	NP_001354553.1	zinc finger protein 469

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	21664999	GOA
involved in regulation of extracellular matrix organization	IMP IMP: Inferred from mutant phenotype	21664999	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

ZNF469 Protein Structure

zf-C2H2_4

zf-C2H2

zf-C2H2_4

0
700
1400
2100
2800
3500
3925 a.a.

Protein Preferred Names

Protein Names

zinc finger protein 469

Related Diseases

Diseases

Alias

Brittle Cornea Syndrome 1

Brittle Cornea Syndrome	Fragilitas Oculi With Joint Hyperextensibility
Dysgenesis Mesodermalis Corneae Et Sclerae	BCS1
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility	Ehlers-Danlos Syndrome, Type Vib, Formerly
Eds6b, Formerly	Type Vib Ehlers-Danlos Syndrome
Eds Vib	Ehlers-Danlos Syndrome Type 6b
Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility	Eds6b Formerly
Ehlers-Danlos Syndrome Type Vib Formerly	Ehlers-Danlos Syndrome Type 6
Cornea, Brittle, Syndrome	Cornea, Brittle, Syndrome, Type 1
Ehlers-Danlos Syndrome 6b

Keratoconus 1

KTCN1

Keratoconus, Type 1

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Keratoconus

Kc	Conical Cornea
Noninflammatory Corneal Thining	Bulging Cornea
Cornea Conical	Acquired Conus Of Cornea

Pseudopterygium

Corneal Ectasia

Irregular Astigmatism

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea	Chandler Syndrome
CHED	Chandler'S Syndrome
Endothelial Corneal Dystrophy	Ched2
Maumenee Corneal Dystrophy	Corneal Dystrophy, Congenital Hereditary Endothelial
Dystrophy Of Corneal Endothelium	Corneal Endothelial Dystrophy 2
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly	Ched2, Formerly
Corneal Endothelial Dystrophy, Autosomal Recessive	Endothelial Dystrophy
Posterior Membrane Corneal Dystrophy	Corneal Endothelial Dystrophy Type 2
Congenital Hereditary Endothelial Dystrophy Of The Cornea	Congenital Hereditary Endothelial Dystrophy Type Ii
Autosomal Recessive Ched	Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
Chedii	Congenital Hereditary Endothelial Dystrophy Type 2
Infantile Hereditary Endothelial Dystrophy	Congenital Hereditary Endothelial Corneal Dystrophy
Corneal Endothelial Dystrophy 2, Autosomal Recessive	Iridocorneal Endothelial Syndrome
Dystrophy, Corneal, Endothelial	Corneal Endothelial Dystrophy 1, Autosomal Dominant

Brittle Cornea Syndrome 2

BCS2	Cornea, Brittle, Syndrome Type 2
Ehlers-Danlos Syndrome 6b	Ehlers-Danlos Syndrome Type 6

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy	Ppcd
Maumenee Corneal Dystrophy	Posterior Polymorphous Corneal Dystrophy 1
PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior
Corneal Endothelial Dystrophy 1, Autosomal Dominant	Schlichting Dystrophy
Ched1	Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
Ched1, Formerly	Hereditary Polymorphus Posterior Corneal Dystrophy
Posterior Polymorphous Dystrophy	Hereditary Polymorphous Posterior Corneal Dystrophy
Dystrophy, Corneal, Posterior Polymorphous	Dystrophy, Corneal, Posterior Polymorphous, Type 1
Polymorphous Corneal Dystrophy	Corneal Endothelial Dystrophy 2

Regular Astigmatism

Linear Skin Defects With Multiple Congenital Anomalies 1

Midas Syndrome	Mcops7
Mls Syndrome	Microphthalmia, Syndromic 7
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia With Linear Skin Defects
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome	Syndromic Microphthalmia Type 7
LSDMCA1	Mls
Microphthalmia, Dermal Aplasia, And Sclerocornea	Microphthalmia With Linear Skin Defect Syndrome
Syndromic Microphthalmia 7	Linear Skin Defects With Multiple Congenital Anomalies
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome	Microphthalmia Dermal Aplasia And Sclerocornea Syndrome
Micropthalmia Syndromic 7	Microphthalmia Syndromic 7
Microphthalmia With Linear Skin Lesions Syndrome	Syndromic Microphthalmia-7
Microphthalmia, Dermal Aplasia And Sclerocornea	Microphthalmia, Syndromic, 7
Midas

Perinephritis

Corneal Disease

Corneal Diseases

Corneal Disorders

Refractive Error

Refractive Errors

Collagen Disease

Collagen Diseases

Collagen Disorder

Albinism, Ocular, With Late-Onset Sensorineural Deafness

Ocular Albinism With Sensorineural Deafness	OASD
Deafness And Ocular Albinism	Ocular Albinism With Late-Onset Sensorineural Deafness
Albinism, Ocular, With Sensorineural Deafness	Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism
Digenic Waardenburg Syndrome/Albinism	Digenic Waardenburg Syndrome/Ocular Albinism
Ws2-Oa	Albinism Ocular Late Onset Sensorineural Deafness
Ocular Albinism With Late-Onset Sensorineural Hearing Loss	Waardenburg Syndrome/Ocular Albinism, Digenic
Waardenburg Syndrome/Albinism, Digenic	Ocular Albinism And Sensorineural Deafness

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Martsolf Syndrome 1

Martsolf Syndrome	Cataract-Intellectual Disability-Hypogonadism Syndrome
MARTS1	Marts
Cataract-Mental Retardation-Hypogonadism	Martsolf

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E	Primary Open Angle Glaucoma
POAG	Adult-Onset Primary Open Angle Glaucoma
Chronic Simple Glaucoma	GLC1E
Primary Open Angle Glaucoma 1e	Glaucoma, Open Angle, Primary

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16146	ZNF469 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ZNF469	VGNC	VGNC:82367
Rattus norvegicus	ZNF469	RGD	RGD:1583874
Mus musculus	ZNF469	MGD	MGI:2684868
Bos taurus	ZNF469	VGNC	VGNC:37282
Macaca mulatta	ZNF469	VGNC	VGNC:99637

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