2. Gene
  3. IGSF3 - immunoglobulin superfamily member 3 Gene

IGSF3 - immunoglobulin superfamily member 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：免疫球蛋白超家族成员 3

种属: Homo sapiens

同用名: V8; LCDD; EWI-3

基因 ID: 3321 | 基因类型: protein coding

关于 IGSF3

Cytogenetic location: 1p13.1 Genomic coordinates (GRCh38): 1:116,574,398-116,667,755 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues, 5 paralogues and is associated with 2 phenotypes. Broad expression in esophagus (RPKM 8.2), skin (RPKM 7.8) and 19 other tissues.

功能概要

该基因编码的蛋白质是一种免疫球蛋白样膜蛋白，含有几个 V 型 Ig 样结构域。该基因的突变与双侧鼻泪管阻塞 (LCDD) 有关。[RefSeq 提供，2016 年 6 月]

The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]

IGSF3 基因产物(2)

mRNA Protein Name
NM_001007237.3 NP_001007238.1 immunoglobulin superfamily member 3 isoform 2 precursor
NM_001542.4 NP_001533.2 immunoglobulin superfamily member 3 isoform 1 precursor
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lacrimal gland development IMP
IMP: 通过突变表型推断
24372406 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

IGSF3 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (22 - 132)

V-set

V-set: Immunoglobulin V-set domain (151 - 248)

V-set

V-set: Immunoglobulin V-set domain (294 - 385)

V-set

V-set: Immunoglobulin V-set domain (421 - 514)

Ig_2

Ig_2: Immunoglobulin domain (556 - 673)

V-set

V-set: Immunoglobulin V-set domain (681 - 785)

V-set

V-set: Immunoglobulin V-set domain (820 - 921)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1194 a.a.
蛋白主名 其他名称

immunoglobulin superfamily member 3

glu-Trp-Ile EWI motif-containing protein 3

重组 IGSF3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76412 IGSF3 Protein, Human (HEK293, His) O75054-1 (Q20-A1124) ≥95%

关联疾病

疾病名称 别名
Lacrimal Duct Defect

Nasolacrimal Duct Obstruction

Familial Congenital Nasolacrimal Duct Obstruction

LCDD

Lacrimal Puncta, Absence Of

Lacrimal Duct Obstruction
Gastrointestinal Tularemia

Enteric Tularemia

Intestinal Tularaemia
Lacrimal Duct Obstruction

Blocked Lacrimal Canaliculus

Obstruction Of Lacrimal Canaliculus

Obstruction Of Lacrimal Ducts
Ciliary Dyskinesia, Primary, 5

Primary Ciliary Dyskinesia 5

CILD5

Ciliary Dyskinesia, Primary, 5, Without Situs Inversus

Primary Ciliary Dyskinesia 5 Without Situs Inversus

Ics5

Immotile Cilia Syndrome 5

Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, Type 5
Urethral Calculus

Calculus In Urethra

Urethral Stone

Urethrolithiasis

Urethra Calculi Impaction

Urethra Calculus Impaction

Urethra Stone

Calculous Urethritis

Urethral Calculi Impaction

Urethral Calculus Impaction
Osteopetrosis

Marble Bone Disease

Albers-Schonberg Disease

Osteopetroses

Marble Bones

Osteopetrosis And Related Disorders

Congenital Osteopetrosis

Marble Bone

Albers-Schoenberg Disease

Albers-Schonberg Osteopetrosis

Osteosclerosis Fragilis

Ivory Bones
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06649 IGSF3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus IGSF3 VGNC VGNC:30094
Macaca mulatta IGSF3 VGNC VGNC:73699
Felis catus IGSF3 VGNC VGNC:67747
Rattus norvegicus IGSF3 RGD RGD:1307796
Mus musculus IGSF3 MGD MGI:1926158
Canis familiaris IGSF3 VGNC VGNC:41916
Others IGSF3 NCBI
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