FREM2 - FRAS1 related extracellular matrix 2 Gene

Also Known as CRYPTOP; FRASRS2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 341640

About FREM2

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:38,687,077-38,887,131 (from NCBI)

This gene has 2 transcripts (splice variants), 278 orthologues, 7 paralogues and is associated with 6 phenotypes. Biased expression in kidney (RPKM 4.7), thyroid (RPKM 3.2) and 11 other tissues.

Summary

This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]

FREM2 Products (1)

mRNA	Protein	Name
NM_207361.6	NP_997244.4	FRAS1-related extracellular matrix protein 2 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29688405	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell adhesion	IMP IMP: Inferred from mutant phenotype	29688405	GOA
involved in eye development	IMP IMP: Inferred from mutant phenotype	29688405	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

FREM2 Protein Structure

Calx-beta

0
500
1000
1500
2000
2500
3000
3169 a.a.

Protein Preferred Names	Protein Names
FRAS1-related extracellular matrix protein 2	ECM3 homolog

FREM2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FREM2	Q5SZK8	FREM1	Homo sapiens	Q5H8C1	Anti Bait CoIP	29688405

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Fraser Syndrome 2	FRASRS2
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Isolated Cryptophthalmia CRYPTOP Ankyloblepharon, Simple Cryptophthalmos With Microphthalmia And Peters Anomaly Unilateral Or Bilateral Isolated Cryptophthalmos
Renal Hypodysplasia/Aplasia 3	RHDA3 Renal Agenesis, Unilateral Unilateral Renal Agenesis
Cryptophthalmos
Anus Disease	Anal Fissure Ulcer Of Anus Anus Diseases Anal Disease Anal Fissure And Fistula Anal Ulcer Fissure In Ano Nontraumatic Tear Of Anus Solitary Anal Ulcer Abnormality Of The Anus Anal Disorders Ulcer Of Anus And Rectum Solitary Ulcer Of Anus Stercoral Ulcer Of Anus
Cryptophthalmia	Microblepharon Cryptophthalmos Nos
Complete Cryptophthalmia
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
Congenital Symblepharon
Childhood-Onset Schizophrenia	Childhood Schizophrenia Schizophrenia, Childhood
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
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
Laryngostenosis	Stenosis Of Larynx Laryngeal Stenosis Laryngeal Stricture Larynx Stenosis Larynx Stricture Larynx Narrowing
Partial Cryptophthalmia	Incomplete Cryptophthalmos
Zygodactyly 1	Zd1 Zygodactyly Type 1 Sd1, Weidenreich Type Sd1a Syndactyly Type 1, Weidenreich Type Syndactyly Type 1a Zygodactyly, Weidenreich Type
Chronic Inflammation Of Lacrimal Passage
Dacryocystocele	Lacrimal Mucocele
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
Acrorenal Syndrome
Gliosarcoma	Glioblastoma With Sarcomatous Component Sarcomatous Glioblastoma
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
Ablepharon-Macrostomia Syndrome	Ablepharon Macrostomia Syndrome AMS Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies Eye Abnormalities
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
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
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
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
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
Anus, Imperforate	Imperforate Anus Anorectal Malformation Anal Atresia Anorectal Malformations Congenital Atresia Of Anus Congenital Or Infantile Occlusion Of Anus Anal Stenosis Arm
Synostosis
Oligohydramnios	Oligohydramnios - Delivered Antepartum Oligohydramnios Delivered Oligohydramnios Oligohydramnios, Antepartum Condition Or Complication Deficient Liquor Oligohydramnios, Unspecified Trimester Reduced Liquor Volume
Diaphragm Disease	Abnormality Of The Diaphragm Disease Of Diaphragm Diaphragmatic Disorder Disorder Of Diaphragm
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
Chromosomal Duplication Syndrome
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
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05093	FREM2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FREM2	VGNC	VGNC:62356
Rattus norvegicus	FREM2	RGD	RGD:1566012
Canis familiaris	FREM2	VGNC	VGNC:40977
Bos taurus	FREM2	VGNC	VGNC:29111
Mus musculus	FREM2	MGD	MGI:2444465
Macaca mulatta	FREM2	VGNC	VGNC:72784