ODF2 - outer dense fiber of sperm tails 2 Gene

中文名称：精子尾部外层致密纤维 2

种属: Homo sapiens

同用名: CT134; ODF84; ODF2/1; ODF2/2

基因 ID: 4957 | 基因类型: protein coding

关于 ODF2

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:128,455,185-128,501,292 (from NCBI)

This gene has 22 transcripts (splice variants), 248 orthologues and 1 paralogue. Biased expression in testis (RPKM 95.4), lymph node (RPKM 8.1) and 9 other tissues.

功能概要

外部致密纤维是细胞骨架结构，围绕着精子尾部中间部分和主要部分的轴丝。纤维的作用是维持精子尾部的弹性结构和反冲，以及在附睾运输和射精过程中保护尾部免受剪切力的影响。外部致密纤维的缺陷会导致精子形态异常和不育。该基因编码一种主要的外致密纤维蛋白。可变剪接导致多个转录本变体。较长的转录本，也称为“Cenexins”，编码具有 C 末端延伸的蛋白质，这些蛋白质有差异地靶向体细胞中心粒，被认为对微管组织中心的形成至关重要。[RefSeq 提供，2010 年 10 月]

The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Alternative splicing results in multiple transcript variants. The longer transcripts, also known as 'Cenexins', encode proteins with a C-terminal extension that are differentially targeted to somatic centrioles and thought to be crucial for the formation of microtubule organizing centers. [provided by RefSeq, Oct 2010]

ODF2 基因产物(23)

mRNA	Protein	Name
NM_001242352.2	NP_001229281.1	outer dense fiber protein 2 isoform 11
NM_001242353.2	NP_001229282.1	outer dense fiber protein 2 isoform 2
NM_001242354.2	NP_001229283.1	outer dense fiber protein 2 isoform 8
NM_001351577.1	NP_001338506.1	outer dense fiber protein 2 isoform 12
NM_001351578.2	NP_001338507.1	outer dense fiber protein 2 isoform 13
NM_001351579.2	NP_001338508.1	outer dense fiber protein 2 isoform 14
NM_001351580.2	NP_001338509.1	outer dense fiber protein 2 isoform 14
NM_001351581.1	NP_001338510.1	outer dense fiber protein 2 isoform 15
NM_001351582.2	NP_001338511.1	outer dense fiber protein 2 isoform 16
NM_001351583.2	NP_001338512.1	outer dense fiber protein 2 isoform 17
NM_001351584.2	NP_001338513.1	outer dense fiber protein 2 isoform 11
NM_001351585.2	NP_001338514.1	outer dense fiber protein 2 isoform 11
NM_001351586.2	NP_001338515.1	outer dense fiber protein 2 isoform 9
NM_001351587.2	NP_001338516.1	outer dense fiber protein 2 isoform 18
NM_001351588.2	NP_001338517.1	outer dense fiber protein 2 isoform 19
NM_002540.5	NP_002531.3	outer dense fiber protein 2 isoform 9
NM_153432.1	NP_702910.1	outer dense fiber protein 2 isoform 3
NM_153433.2	NP_702911.1	outer dense fiber protein 2 isoform 2
NM_153435.1	NP_702913.1	outer dense fiber protein 2 isoform 1
NM_153436.2	NP_702914.1	outer dense fiber protein 2 isoform 4
NM_153437.3	NP_702915.1	outer dense fiber protein 2 isoform 6
NM_153439.1	NP_702917.1	outer dense fiber protein 2 isoform 5
NM_153440.2	NP_702918.1	outer dense fiber protein 2 isoform 7

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	16980960	GOA
enables small GTPase binding	IPI IPI: 通过物理相互作用推断	17646400	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in centriole-centriole cohesion	IGI IGI: 通过遗传相互作用推断	23213374	GOA
involved in cilium organization	IGI IGI: 通过遗传相互作用推断	23400999	GOA
involved in protein localization	IMP IMP: 通过突变表型推断	23213374	GOA
involved in regulation of cilium assembly	IMP IMP: 通过突变表型推断	17646400	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of centriolar subdistal appendage	IDA IDA: 通过直接分析推断	23213374	GOA
located in centriole	IDA IDA: 通过直接分析推断	17646400	GOA
located in centrosome	IDA IDA: 通过直接分析推断	21399614	GOA
located in ciliary basal body	IDA IDA: 通过直接分析推断	17646400	GOA
NOT located in cilium	IDA IDA: 通过直接分析推断	17646400	GOA
located in cilium	IDA IDA: 通过直接分析推断	17646400	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

outer dense fiber protein 2

cancer/testis antigen 134

ODF2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	ODF2	Q5BJF6	NUFIP2	Homo sapiens	Q7Z417	Anti Bait CoIP	35709258

种属间: 跨种属相互作用 种属内: 同种属相互作用

ODF2 抗体

目录号	产品名	应用	反应物种
HY-P82060	Cenexin1 Antibody (YA1805)	WB, FC	Human

关联疾病

疾病名称

别名

Spermatogenic Failure 8

SPGF8

Latex Allergy

Infertility

Seckel Syndrome 7

SCKL7	Microcephalic Primordial Dwarfism, Dauber Type
Seckel Syndrome, Type 7

Orofaciodigital Syndrome Ix

OFD9	Orofaciodigital Syndrome With Retinal Abnormalities
Oral-Facial-Digital Syndrome With Retinal Abnormalities	Orofaciodigital Syndrome 9
Oral-Facial-Digital Syndrome Type 9	Ofds Ix
Oral-Facial-Digital Syndrome, Type Ix	Ofd Syndrome 9
Ofds 9	Oral Facial Digital Syndrome 9
Oral Facial Digital Syndrome Type 9	Orofaciodigital Syndrome Type 9
Orofaciodigital Syndrome, Type Ix

Chromosome 13q14 Deletion Syndrome

Chromosome 13q Deletion Syndrome	Deletion 13q14
Chromosome 13q Deletion	13q Deletion
13q Monosomy	Deletion 13q
Monosomy 13q	Monosomy 13q14
Del(13)(Q14)

Pelvic Varices

Varix Of Pelvis

Pelvic Varicose Vein

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09752	ODF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	ODF2	VGNC	VGNC:68619
Bos taurus	ODF2	VGNC	VGNC:32401
Macaca mulatta	ODF2	VGNC	VGNC:75580
Mus musculus	ODF2	MGD	MGI:1098824
Canis familiaris	ODF2	VGNC	VGNC:44099
Rattus norvegicus	ODF2	RGD	RGD:3229

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