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  2. FREM1 - FRAS1 related extracellular matrix 1 Gene

FREM1 - FRAS1 related extracellular matrix 1 Gene

中文名称:FRAS1 相关细胞外基质 1

种属: Homo sapiens

同用名: BNAR; MOTA; TILRR; TRIGNO2; C9orf143; C9orf145; C9orf154

基因 ID: 158326 | 基因类型: protein coding

关于 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.

功能概要

该基因编码可能在颅面和肾脏发育中发挥作用的基底膜蛋白。该基因的突变与伴有或不伴有肛门直肠和肾脏异常的双歧鼻有关。已经描述了编码不同亚型的选择性剪接转录物变体。 PubMed ID 19940113 描述了一种这样的变体,它在一个不同的内部外显子内启动转录;由此产生的较短亚型 (命名为 Toll 样/白细胞介素 1 受体调节剂,TILRR) 被认为是白细胞介素 1 受体家族的共同受体,可能调节受体功能和 Toll 样受体/白细胞介素 1 受体信号转导,有助于以控制炎症反应激活。[RefSeq 提供,2011 年 4 月]

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 基因产物(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 蛋白结构

Calx-beta

Calx-beta: Calx-beta domain (1742 - 1829)

Lectin_C

Lectin_C: Lectin C-type domain (2072 - 2176)

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  • 2179 a.a.
蛋白主名 其他名称

FRAS1-related extracellular matrix protein 1

extracellular matrix protein QBRICK

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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