FREM1 - FRAS1 related extracellular matrix 1 Gene

Also Known as BNAR; MOTA; TILRR; TRIGNO2; C9orf143; C9orf145; C9orf154

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 158326

About FREM1

Cytogenetic location: 9p22.3 Genomic coordinates (GRCh38): 9:14,737,152-14,910,995 (from NCBI)

This gene has 8 transcripts (splice variants), 201 orthologues, 7 paralogues and is associated with 8 phenotypes. Broad expression in endometrium (RPKM 5.0), kidney (RPKM 2.2) and 14 other tissues.

Summary

This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like Receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]

FREM1 Products (8)

mRNA	Protein	Name
NM_001177704.3	NP_001171175.1	FRAS1-related extracellular matrix protein 1 isoform 2
NM_001370058.2	NP_001356987.1	FRAS1-related extracellular matrix protein 1 isoform 3
NM_001370060.1	NP_001356989.1	FRAS1-related extracellular matrix protein 1 isoform 4 precursor
NM_001370061.2	NP_001356990.1	FRAS1-related extracellular matrix protein 1 isoform 2
NM_001370063.1	NP_001356992.1	FRAS1-related extracellular matrix protein 1 isoform 5 precursor
NM_001370065.1	NP_001356994.1	FRAS1-related extracellular matrix protein 1 isoform 5 precursor
NM_001379081.2	NP_001366010.1	FRAS1-related extracellular matrix protein 1 isoform 1 precursor
NM_144966.7	NP_659403.4	FRAS1-related extracellular matrix protein 1 isoform 1 precursor

FREM1 Protein Structure

Calx-beta

Lectin_C

0
400
800
1200
1600
2000
2179 a.a.

Protein Preferred Names	Protein Names
FRAS1-related extracellular matrix protein 1	extracellular matrix protein QBRICK

Related Diseases

Diseases	Alias
Bifid Nose With Or Without Anorectal And Renal Anomalies	Bnar Syndrome BNAR Bifid Nose, With Or Without Anorectal And Renal Anomalies Bifid Nose Renal Agenesis And Anorectal Malformations Syndrome Bifid Nose With/Without Anorectal And Renal Anomalies
Manitoba Oculotrichoanal Syndrome	Marles Syndrome Oculotrichoanal Syndrome MOTA Marles-Greenberg-Persaud Syndrome Mota Syndrome Marles Greenberg Persaud Syndrome Manitoba Trichoanal Syndrome Unilateral Upper Eyelid Coloboma, Aberrant Anterior Hairline Pattern, And Anal Anomalies
Trigonocephaly 2	TRIGNO2 Craniosynostosis, Metopic Metopic Craniosynostosis Interfrontal Craniofaciosynostosis
Non-Syndromic Metopic Craniosynostosis	Isolated Metopic Craniosynostosis Isolated Trigonocephaly Non-Syndromic Metopic Suture Synostosis Trigonocephaly, Isolated
Renal Hypodysplasia/Aplasia 3	RHDA3 Renal Agenesis, Unilateral Unilateral Renal Agenesis
Cryptophthalmos
Partial Cryptophthalmia	Incomplete Cryptophthalmos
Laryngostenosis	Stenosis Of Larynx Laryngeal Stenosis Laryngeal Stricture Larynx Stenosis Larynx Stricture Larynx Narrowing
Omphalocele	Omphalocoele Congenital Omphalocele Exomphalos Exumbilication
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Isolated Cryptophthalmia CRYPTOP Ankyloblepharon, Simple Cryptophthalmos With Microphthalmia And Peters Anomaly Unilateral Or Bilateral Isolated Cryptophthalmos
Chromosome 9p Deletion Syndrome	Monosomy 9p Monosomy 9p Syndrome Alfi Syndrome 9p Syndrome Chromosome 9p Deletion 9p Deletion 9p Monosomy Deletion 9p Partial Monosomy 9p 9p Deletion Syndrome 9p- Syndrome Alfi'S Syndrome Chromosome 9, Partial Trisomy 9p
Diaphragm Disease	Abnormality Of The Diaphragm Disease Of Diaphragm Diaphragmatic Disorder Disorder Of Diaphragm
Microphthalmia, Syndromic 12	Microphthalmia With Or Without Pulmonary Hypoplasia, Diaphragmatic Hernia, And/Or Cardiac Defects MCOPS12 Syndromic Microphthalmia 12 Syndromic Microphthalmia-12 Microphthalmia, Syndromic, 12 Microphthalmia, Syndromic, Type 12
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
Sweeney-Cox Syndrome	SWCOS
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
Kleefstra Syndrome 1	9q Subtelomeric Deletion Syndrome KLEFS1 Chromosome 9q34.3 Deletion Syndrome 9q- Syndrome 9q34 Deletion Syndrome Kleefstra Syndrome Due To 9q34 Microdeletion Kleefstra Syndrome 9q-Syndrome 9qstds Kleefstra Syndrome Due To 9q Subtelomeric Deletion Kleefstra Syndrome Due To Del(9)(Q34) Kleefstra Syndrome Due To Monosomy 9q34 Chromosome 9q Subtelomeric Deletion Syndrome Kleefstra Syndrome, Type 1
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
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
Synostosis
Skin Tag	Fibroepithelial Polyp Fibroepithelial Polyp Of Skin Soft Fibroma Skin Tags Cutaneous Tag Gardner Fibroma Acrochordon Fibroma Molle
Saethre-Chotzen Syndrome	SCS Acs3 Acs Iii Chotzen Syndrome Acrocephaly, Skull Asymmetry, And Mild Syndactyly Acrocephalosyndactyly Type 3 Acrocephalosyndactyly, Type Iii Acrocephalosyndactyly Type Iii Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies Auralcephalosyndactyly Acs 3 Acrocephalo-Syndactyly, Type 3 Blepharophimosis,Epicanthus Inversus, And Ptosis 3 Aural Cephalosyndactyly Kurczynski-Casperson Syndrome Acrocephalosyndactyly Iii Dysostosis Craniofacialis With Hypertelorism Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies Sakati Syndrome
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
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
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05092	FREM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FREM1	RGD	RGD:1306981
Macaca mulatta	FREM1	VGNC	VGNC:72768
Mus musculus	FREM1	MGD	MGI:2670972
Felis catus	FREM1	VGNC	VGNC:62355
Bos taurus	FREM1	VGNC	VGNC:29110
Canis familiaris	FREM1	VGNC	VGNC:40976
Others	FREM1	NCBI