FRAS1 - Fraser extracellular matrix complex subunit 1 Gene

Homo sapiens

Also known as FRASRS1

Gene ID: 80144 | Gene type: protein coding

About FRAS1

Cytogenetic location: 4q21.21 Genomic coordinates (GRCh38): 4:78,057,323-78,544,269 (from NCBI)

This gene has 10 transcripts (splice variants), 89 orthologues, 7 paralogues and is associated with 4 phenotypes. Broad expression in thyroid (RPKM 6.8), kidney (RPKM 4.0) and 15 other tissues.

Summary

This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

FRAS1 Products(2)

mRNA	Protein	Name
NM_001166133.2	NP_001159605.1	extracellular matrix organizing protein FRAS1 isoform 2 precursor
NM_025074.7	NP_079350.5	extracellular matrix organizing protein FRAS1 isoform 1 precursor

FRAS1 Protein Structure

VWC

Calx-beta

0
700
1400
2100
2800
3500
4012 a.a.

Protein Preferred Names

Protein Names

extracellular matrix organizing protein FRAS1

Fraser syndrome 1

Related Diseases

Diseases

Alias

Fraser Syndrome 1

Fraser Syndrome	Cryptophthalmos With Other Malformations
Cryptophthalmos Syndrome	FRASRS1
Cryptophthalmos-Syndactyly Syndrome	Fraser-Francois Syndrome
Cyclopism	Meyer-Schwickerath'S Syndrome
Ulrich-Feichtiger Syndrome	Cryptophthalmos Syndactyly Syndrome
Fraser'S Syndrome	Meyer-Schwickerath Syndrome
Ullrich-Feichtiger Syndrome

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

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

Renal Hypodysplasia/Aplasia 3

RHDA3	Renal Agenesis, Unilateral
Unilateral Renal Agenesis

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Cryptophthalmos

Congenital Symblepharon

Laryngostenosis

Stenosis Of Larynx	Laryngeal Stenosis
Laryngeal Stricture	Larynx Stenosis
Larynx Stricture	Larynx Narrowing

Partial Cryptophthalmia

Incomplete Cryptophthalmos

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

Treacher Collins Syndrome 1

Treacher Collins Syndrome	Mandibulofacial Dysostosis
Treacher Collins-Franceschetti Syndrome	Tcof
Tcs	Mfd1
Franceschetti-Klein Syndrome	TCS1
Franceschetti Syndrome	Franceschetti-Zwahlen-Klein Syndrome
Zygoauromandibular Dysplasia	Treacher-Collins Syndrome
Mandibulofacial Dysostosis Without Limb Anomalies	Bilateral And Symmetric Oto-Mandibular Dysplasia

Anomalous Left Coronary Artery From The Pulmonary Artery

Bland White Garland Syndrome	Alcapa
Bland-White-Garland Syndrome	White-Garland Syndrome

Hypogonadotropic Hypogonadism 5 With Or Without Anosmia

HH5	Kallmann Syndrome 5
Kal5	Hypogonadotropic Hypogonadism 5 Without Anosmia
Hypogonadism, Hypogonadotropic, Type 5 With/Without Anosmia

Chronic Inflammation Of Lacrimal Passage

Dacryocystocele

Lacrimal Mucocele

Zygodactyly 1

Zd1	Zygodactyly Type 1
Sd1, Weidenreich Type	Sd1a
Syndactyly Type 1, Weidenreich Type	Syndactyly Type 1a
Zygodactyly, Weidenreich Type

Cryptophthalmos, Unilateral Or Bilateral, Isolated

Isolated Cryptophthalmia	CRYPTOP
Ankyloblepharon, Simple	Cryptophthalmos With Microphthalmia And Peters Anomaly
Unilateral Or Bilateral Isolated Cryptophthalmos

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

Hay-Wells Syndrome	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Aec Syndrome	AEC
Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome	Seres-Santamaria Arimany Muniz Syndrome
Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects	Ankyloblepharon Ectodermal Defects Cleft Lip/Palate
Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate	Rapp-Hodgkin Syndrome

Acrorenal Syndrome

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

Hypogonadotropic Hypogonadism 6 With Or Without Anosmia

HH6	Kallmann Syndrome 6
Kal6	Hypogonadotropic Hypogonadism, Type 6 With/Without Anosmia

Bilateral Renal Aplasia

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

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

Anus, Imperforate

Imperforate Anus	Anorectal Malformation
Anal Atresia	Anorectal Malformations
Congenital Atresia Of Anus	Congenital Or Infantile Occlusion Of Anus
Anal Stenosis	Arm

Synostosis

Chromosomal Duplication Syndrome

Oligohydramnios

Oligohydramnios - Delivered	Antepartum Oligohydramnios
Delivered Oligohydramnios	Oligohydramnios, Antepartum Condition Or Complication
Deficient Liquor	Oligohydramnios, Unspecified Trimester
Reduced Liquor Volume

Dysostosis

Dysostoses

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

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

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-RS05089	FRAS1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	FRAS1	VGNC	VGNC:40975
Macaca mulatta	FRAS1	VGNC	VGNC:72743
Rattus norvegicus	FRAS1	RGD	RGD:1306516
Mus musculus	FRAS1	MGD	MGI:2385368
Felis catus	FRAS1	VGNC	VGNC:62354
Bos taurus	FRAS1	VGNC	VGNC:59334