1. Gene
  2. FSIP2 - fibrous sheath interacting protein 2 Gene

FSIP2 - fibrous sheath interacting protein 2 Gene

中文名称:纤维鞘相互作用蛋白 2

种属: Homo sapiens

同用名: SPGF34

基因 ID: 401024 | 基因类型: protein coding

关于 FSIP2

Cytogenetic location: 2q32.1 Genomic coordinates (GRCh38): 2:185,737,134-185,833,290 (from NCBI)

This gene has 5 transcripts (splice variants), 121 orthologues and is associated with 2 phenotypes. Biased expression in testis (RPKM 4.0), stomach (RPKM 1.4) and 2 other tissues.

功能概要

该基因编码与精子纤维鞘相关的蛋白质。编码大多数纤维鞘相关蛋白基因的基因仅在精子发生的减数分裂后期转录。该基因编码的蛋白质对生精细胞具有特异性。该基因的拷贝数变异可能与睾丸生殖细胞肿瘤有关。在 2 号和 X 号染色体上报告了与该基因相关的假基因。[RefSeq 提供,2016 年 8 月]

This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific to spermatogenic cells. Copy number variation in this gene may be associated with testicular germ cell tumors. Pseudogenes associated with this gene are reported on chromosomes 2 and X. [provided by RefSeq, Aug 2016]

FSIP2 基因产物(1)

mRNA Protein Name
NM_173651.4 NP_775922.3 fibrous sheath-interacting protein 2
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
acts upstream of or within positive effect flagellated sperm motility IMP
IMP: 通过突变表型推断
30745215 GOA
acts upstream of or within positive effect protein localization to cilium IMP
IMP: 通过突变表型推断
30137358 GOA
involved in protein localization to cilium IMP
IMP: 通过突变表型推断
30745215 GOA
acts upstream of or within positive effect sperm axoneme assembly IMP
IMP: 通过突变表型推断
30137358 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in sperm end piece IDA
IDA: 通过直接分析推断
30745215 GOA
located in sperm head-tail coupling apparatus IDA
IDA: 通过直接分析推断
30745215 GOA
located in sperm midpiece IDA
IDA: 通过直接分析推断
30745215 GOA
located in sperm principal piece IMP
IMP: 通过突变表型推断
30745215 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
蛋白主名 其他名称

fibrous sheath-interacting protein 2

关联疾病

疾病名称 别名
Spermatogenic Failure 34

SPGF34

Non-Syndromic Male Infertility Due To Sperm Motility Disorder

Non-Syndromic Male Infertility Due Asthenozoospermia

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Infertility
Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

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 FSIP2 RGD RGD:1593013
Bos taurus FSIP2 VGNC VGNC:56115
Mus musculus FSIP2 MGD MGI:2664111
Canis familiaris FSIP2 VGNC VGNC:53095