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  2. FREM3 - FRAS1 related extracellular matrix 3 Gene

FREM3 - FRAS1 related extracellular matrix 3 Gene

中文名称:FRAS1 相关细胞外基质 3

种属: Homo sapiens

基因 ID: 166752 | 基因类型: protein coding

关于 FREM3

Cytogenetic location: 4q31.21 Genomic coordinates (GRCh38): 4:143,577,302-143,700,675 (from NCBI)

This gene has 2 transcripts (splice variants), 150 orthologues and 7 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码包含大量 CSPG (硫酸软骨素蛋白多糖元件) 重复序列和 Calx-β 结构域的完整膜蛋白。该蛋白属于 FRAS1/FREM 细胞外基质蛋白家族,可能在细胞粘附中发挥作用。[RefSeq 提供,2017 年 2 月]

This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. [provided by RefSeq, Feb 2017]

FREM3 基因产物(1)

mRNA Protein Name
NM_001168235.2 NP_001161707.1 FRAS1-related extracellular matrix protein 3 precursor

FREM3 蛋白结构

Calx-beta

Calx-beta: Calx-beta domain (1775 - 1862)

Calx-beta

Calx-beta: Calx-beta domain (1875 - 1984)

Calx-beta

Calx-beta: Calx-beta domain (2001 - 2105)

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  • 2000
  • 2139 a.a.
蛋白主名 其他名称

FRAS1-related extracellular matrix protein 3

关联疾病

疾病名称 别名
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

Glucosephosphate Dehydrogenase Deficiency

G6pd Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency

Deficiency Of Glucose-6-Phosphate Dehydrogenase

Glucose 6 Phosphate Dehydrogenase Deficiency

Deficiency Of G-6pd

G6pdd

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

Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa

Deb

Dermolytic Epidermolysis Bullosa

Epidermolysis Bullosa, Dermolytic

Epidermolysis Bullosa, Dystrophic

Epidermolysis Bullosa Dystrophic

Dystrophic Eb - [Epidermolysis Bullosa]

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

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

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
Macaca mulatta FREM3 VGNC VGNC:72782
Rattus norvegicus FREM3 RGD RGD:1562701
Felis catus FREM3 VGNC VGNC:62357
Mus musculus FREM3 MGD MGI:2685641