FRAS1 - Fraser extracellular matrix complex subunit 1 Gene

Also Known as FRASRS1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80144

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-17663	KMR-206		98.86%	Unkown
HY-RS05089	FRAS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P990417	Anti-FOLR1/FRA Antibody		/	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
Others	FRAS1	NCBI