FREM2 - FRAS1 related extracellular matrix 2 Gene

Homo sapiens

Also known as CRYPTOP; FRASRS2

Gene ID: 341640 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29688405	GOA

Biological Process GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

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