IFITM5 - interferon induced transmembrane protein 5 Gene

中文名称：干扰素诱导的跨膜蛋白 5

种属: Homo sapiens

同用名: OI5; BRIL; DSPA1; Hrmp1; fragilis4

基因 ID: 387733 | 基因类型: protein coding

关于 IFITM5

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:298,200-299,526 (from NCBI)

This gene has 1 transcript (splice variant), 187 orthologues, 4 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码一种被认为在骨矿化中起作用的膜蛋白。该基因位于由干扰素诱导的相关基因簇中的 11 号染色体上，然而，尚未显示该基因是干扰素诱导型的。位于小鼠 7 号染色体基因簇中的一个相似基因是干扰素诱导型脆弱基因家族的成员。小鼠基因编码一种被描述为参与生殖细胞能力的跨膜蛋白。该基因 5' UTR 的突变与 V 型成骨不全症相关 (PMID：22863190、22863195) 。[RefSeq 提供，2012 年 8 月]

This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]

IFITM5 基因产物(1)

mRNA	Protein	Name
NM_001025295.3	NP_001020466.1	interferon-induced transmembrane protein 5

基因本体论

生物过程
细胞组分

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in bone mineralization	IMP IMP: 通过突变表型推断	24519609	GOA
involved in bone morphogenesis	IMP IMP: 通过突变表型推断	24519609	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in plasma membrane	IDA IDA: 通过直接分析推断	24519609	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

IFITM5 蛋白结构

CD225

0
100
132 a.a.

蛋白主名

其他名称

interferon-induced transmembrane protein 5

bone-restricted ifitm-like protein

关联疾病

疾病名称

别名

Osteogenesis Imperfecta, Type V

Osteogenesis Imperfecta Type 5	OI5
Osteogenesis Imperfecta Type V	Oi Type 5
Oi Type V	Oi, Type V
Oi With Calcification In Interosseous Membranes	Type V Oi
Osteogenesis Imperfecta 5	Oi-V

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Osteogenesis Imperfecta, Type Vi

OI6	Osteogenesis Imperfecta Type 6
Osteogenesis Imperfecta Type Vi	Oi Type Vi
Oi Type 6	Osteogenesis Imperfecta Type
Serpinfi- Related Osteogenesis Imperfecta	Osteogenesis Imperfecta 6
Oi-Vi

Dentinogenesis Imperfecta

Hereditary Opalescent Dentin	Dentinogenesis Imperfecta Without Osteogenesis Imperfecta
Dgi	Capdepont Teeth
Dgi Without Oi	Di
Non-Syndromic Dgi	Non-Syndromic Dentinogenesis Imperfecta
Opalescent Teeth Without Oi	Opalescent Teeth Without Osteogenesis Imperfecta
Opalescent Dentin

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Eds Viib	EDSARTH2
Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant	Eds7b
Ehlers-Danlos Syndrome Arthrochalasia Type 2	Ehlers-Danlos Syndrome Type 7b
Ehlers-Danlos Syndrome 7b	Ehlers-Danlos Syndrome, Arthrochalasia, Type 2

Cole-Carpenter Syndrome

Cole Carpenter Syndrome	Bone Fragility Craniosynostosis Proptosis Hydrocephalus
Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features	Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome

Osteogenesis Imperfecta, Type Vii

Osteogenesis Imperfecta Type 7	Osteogenesis Imperfecta Type Vii
OI7	Oi Type Vii
Oi, Type Vii	Osteogenesis Imperfecta, Type Iib, Formerly
Oi2b, Formerly	Oi Type 7
Osteogenesis Imperfecta 7	Oi2b
Oi-Iib	Oi Type Iib
Oi-Vii	Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive
Osteogenesis Imperfecta Type Ii Autosomal Recessive	Osteogenesis Imperfecta Type Iib

Bone Development Disease

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I	OI1
Oi, Type I	Osteogenesis Imperfecta Tarda
Osteogenesis Imperfecta With Blue Sclerae	Osteogenesis Imperfecta Type 1
Adair-Dighton Syndrome	Mild Osteogenesis Imperfecta
Non-Deforming Osteogenesis Imperfecta	Oi Type 1
Van Der Hoeve Syndrome	Classic Non-Deforming Oi With Blue Sclerae
Osteogenesis Imperfecta 1	Oi-I
Osteopenic Non-Fracture Syndrome	Osteogenesis Imperfecta, Mild
Osteogenesis Imperfecta	Lobstein'S Disease

Periosteal Osteogenic Sarcoma

Periosteal Osteosarcoma

Parosteal Osteosarcoma

Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Dementia, Familial British	Fbd
Presenile Dementia With Spastic Ataxia	Familial British Dementia
Abri Amyloidosis	Cerebral Amyloid Angiopathy, British Type
Itm2b-Related Cerebral Amyloid Angiopathy 1	Familial Dementia, British Type
Cerebral Amyloid Angiopathy, Itm2b-Related 1	CAA-ITM2B1
Cerebral Amyloid Angiopathy British Type	Dementia, Familial, British

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Osteoporosis, Juvenile

Idiopathic Juvenile Osteoporosis	Idiopathic Osteoporosis
Juvenile Osteoporosis	Ijo

Osteogenesis Imperfecta, Type Ii

Vrolik Type Of Osteogenesis Imperfecta	Osteogenesis Imperfecta Type 2
OI2	Oi, Type Ii
Osteogenesis Imperfecta Congenita	Oic
Osteogenesis Imperfecta Type Ii	Lethal Osteogenesis Imperfecta
Oi Type 2	Osteogenesis Imperfecta Congenita Perinatal Lethal Form
Osteogenesis Imperfecta Congenita, Perinatal Lethal Form	Perinatal Lethal Osteogenesis Imperfecta Congenita
Perinatally Lethal Oi	Osteogenesis Imperfecta 2
Oi-Ii	Oi-Iia
Oi Type Iia	Osteogenesis Imperfecta Type Iia
Osteogenesis Imperfecta Type Ii Autosomal Dominant	Oi Type Ii
Osteogenesis Imperfecta, Dominant Perinatal Lethal

Caffey Disease

Infantile Cortical Hyperostosis	CAFYD
Cortical Congenital Hyperostosis	Caffey-Silverman Syndrome
De Toni-Caffey Disease	Hyperostosis Cortical Infantile
Hyperostosis, Cortical, Congenital

Osteogenesis Imperfecta, Type Iv

Osteogenesis Imperfecta Type 4	Osteogenesis Imperfecta Type Iv
OI4	Oi, Type Iv
Osteogenesis Imperfecta With Normal Sclerae	Oi Type Iv
Oi Type 4	Osteogenesis Imperfecta With Normal Sclera
Common Variable Oi With Normal Sclerae	Osteogenesis Imperfecta 4
Oi-Iv

Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii	OI3
Oi, Type Iii	Osteogenesis Imperfecta Type 3
Oi Type Iii	Oi Type 3
Progressive Deforming Osteogenesis Imperfecta	Severe Osteogenesis Imperfecta
Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae	Progressively Deforming Osteogenesis Imperfecta With Normal Sclera
Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae	Progressively Deforming Oi
Osteogenesis Imperfecta 3	Oi-Iii
Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06569	IFITM5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	IFITM5	MGD	MGI:1934923
Felis catus	IFITM5	VGNC	VGNC:62875
Bos taurus	IFITM5	VGNC	VGNC:30053
Rattus norvegicus	IFITM5	RGD	RGD:1307900
Macaca mulatta	IFITM5	VGNC	VGNC:73398

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

IFITM5 - interferon induced transmembrane protein 5 Gene

关于 IFITM5

功能概要

IFITM5 基因产物(1)

IFITM5 蛋白结构

关联疾病

直系同源

热门区域

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IFITM5 - interferon induced transmembrane protein 5 Gene

关于 IFITM5

功能概要

IFITM5 基因产物(1)

IFITM5 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z