2. Gene
  3. SPEF2 - sperm flagellar 2 Gene

SPEF2 - sperm flagellar 2 Gene

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

中文名称：精子鞭毛 2

种属: Homo sapiens

同用名: KPL2; CT122; SPGF43

基因 ID: 79925 | 基因类型: protein coding

关于 SPEF2

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:35,617,863-35,814,611 (from NCBI)

This gene has 16 transcripts (splice variants), 198 orthologues and is associated with 3 phenotypes. Broad expression in endometrium (RPKM 2.4), testis (RPKM 2.1) and 24 other tissues.

功能概要

参与精子轴丝组装。位于精子鞭毛中。涉及生精失败 43。[由基因组资源联盟提供，2022 年 4 月]

Involved in sperm axoneme assembly. Located in sperm flagellum. Implicated in spermatogenic failure 43. [provided by Alliance of Genome Resources, Apr 2022]

SPEF2 基因产物(2)

mRNA Protein Name
NM_024867.4 NP_079143.3 sperm flagellar protein 2 isoform 1
NM_144722.4 NP_653323.1 sperm flagellar protein 2 isoform 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
involved in sperm axoneme assembly IMP
IMP: 通过突变表型推断
31048344 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in sperm flagellum IDA
IDA: 通过直接分析推断
31048344 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

SPEF2 蛋白结构

CH_2

CH_2: CH-like domain in sperm protein (5 - 147)

ADK

ADK: Adenylate kinase (682 - 750)

Dimer_Tnp_hAT

Dimer_Tnp_hAT: hAT family C-terminal dimerisation region (1701 - 1796)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1822 a.a.
蛋白主名 其他名称

sperm flagellar protein 2

cancer/testis antigen 122

关联疾病

疾病名称 别名
Spermatogenic Failure 43

SPGF43
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
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
Waardenburg Syndrome, Type 4a

Waardenburg-Shah Syndrome

Shah-Waardenburg Syndrome

Waardenburg Syndrome Type 4a

WS4A

Ws4

Waardenburg Syndrome Type 4

Waardenburg Syndrome Type Iva

Waardenburg Syndrome With Hirschsprung Disease Type 4a

Hirschsprung Disease With Pigmentary Anomaly

Waardenburg-Hirschsprung Syndrome

Waardenburg Syndrome, Type Iva

Waardenburg Syndrome With Hirschsprung Disease, Type 4a

Waardenburg-Hirschsprung Disease

Waardenburg Syndrome, Type 4

Waardenburg Syndrome 4a
Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome
Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv
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-RS13657 SPEF2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus SPEF2 VGNC VGNC:65631
Bos taurus SPEF2 VGNC VGNC:35202
Macaca mulatta SPEF2 VGNC VGNC:82243
Rattus norvegicus SPEF2 RGD RGD:620450
Mus musculus SPEF2 MGD MGI:2443727
Canis familiaris SPEF2 VGNC VGNC:46731
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