2. Gene
  3. CATSPER2 - cation channel sperm associated 2 Gene

CATSPER2 - cation channel sperm associated 2 Gene

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

中文名称：阳离子通道精子相关 2

种属: Homo sapiens

基因 ID: 117155 | 基因类型: protein coding

关于 CATSPER2

Cytogenetic location: 15q15.3 Genomic coordinates (GRCh38): 15:43,628,503-43,648,884 (from NCBI)

This gene has 12 transcripts (splice variants), 141 orthologues, 26 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 13.6), skin (RPKM 2.9) and 15 other tissues.

功能概要

该基因编码定位于精子鞭毛的阳离子通道蛋白家族的成员。该基因座的缺陷会导致男性不育。已在该位点观察到可变剪接的转录本变体。通读转录起源于二磷酸肌醇五磷酸激酶 1 假基因 1 中该位点的上游，由 GeneID:110006325 表示。在 15 号染色体和 5 号染色体上的该基因座旁边发现了相关的假基因。[RefSeq 提供，2017 年 3 月]

This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variants have been observed at this locus. Readthrough transcription originates upstream of this locus in diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 and is represented by GeneID:110006325. Related pseudogenes are found next to this locus on chromosome 15 and on chromosome 5. [provided by RefSeq, Mar 2017]

CATSPER2 基因产物(3)

mRNA Protein Name
NM_001282309.3 NP_001269238.1 cation channel sperm-associated protein 2 isoform 1
NM_001282310.2 NP_001269239.1 cation channel sperm-associated protein 2 isoform 5
NM_172095.4 NP_742093.1 cation channel sperm-associated protein 2 isoform 2
基因本体论
  • 分子功能
  • 生物过程
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
16740636 GOA
enables voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
21412338 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium ion transport IDA
IDA: 通过直接分析推断
21412338 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

CATSPER2 蛋白结构

Ion_trans

Ion_trans: Ion transport protein (151 - 340)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 530 a.a.
蛋白主名 其他名称

cation channel sperm-associated protein 2

sperm ion channel

CATSPER2 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
CATSPER2 Q96P56 CACNA1I Homo sapiens Q9P0X4
Anti Bait CoIP
16740636
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Deafness-Infertility Syndrome

DIS

Chromosome 15q15.3 Deletion Syndrome

Deafness, Sensorineural, And Male Infertility

Sensorineural Deafness And Male Infertility

Deafness And Male Infertility

Hearing Loss-Infertility Syndrome
Rare Genetic Deafness

Rare Genetic Hearing Loss
Spermatogenic Failure 7

SPGF7

Male Infertility, Nonsyndromic, Autosomal Recessive

Miar

Male Infertility Non-Syndromic Autosomal Recessive
Infertility
Deafness, Autosomal Recessive 16

DFNB16

Autosomal Recessive Nonsyndromic Deafness 16

Autosomal Recessive Deafness 16

Deafness, Autosomal Recessive, 16

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16

Deafness, Autosomal Recessive, Type 16
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility
Nickel Allergic Contact Dermatitis

Allergic Contact Dermatitis To Ni
Catsper-Related Male Infertility
Deafness, Autosomal Dominant 20

DFNA20

Dfna26

Deafness, Autosomal Dominant 20/26

Autosomal Dominant Nonsyndromic Deafness 20

Autosomal Dominant Deafness 20

Deafness, Autosomal Dominant, 20

Deafness Autosomal Dominant 26

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 20

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 20

Deafness, Autosomal Dominant, Type 20/26
Deafness, Autosomal Dominant 59

DFNA59

Autosomal Dominant Nonsyndromic Deafness 59

Autosomal Dominant Deafness 59
Oligoasthenoteratozoospermia

Oat

Oligoasthenoteratospermia
Deafness, Autosomal Recessive 1a

DFNB1A

Deafness, Digenic, Gjb2/Gjb3

Autosomal Recessive Nonsyndromic Deafness 1a

Deafness, Digenic, Gjb2/Gjb6

Deafness, Digenic Gjb2/Gjb6

Autosomal Recessive Deafness 1a

Deafness, Autosomal Recessive, 1a

Deafness Digenic Gjb2/Gjb3

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1a
Waardenburg Syndrome, Type 1

Waardenburg Syndrome Type 1

WS1

Waardenburg Syndrome Type I

Waardenburg Syndrome With Dystopia Canthorum

Waardenburg'S Syndrome Type 1

Waardenburg Syndrome 1

Waardenburg Syndrome, Type I

Waardenburg Syndrome
Autosomal Dominant Alport Syndrome

Alport Syndrome, Autosomal Dominant

Alport Syndrome Dominant Type

Renal Failure And Sensorineural Hearing Loss

Alport Syndrome, Dominant Type
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic
Usher Syndrome Type 2

Ush2

Usher Syndrome Type Ii
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-RS01985 CATSPER2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CATSPER2 VGNC VGNC:38745
Felis catus CATSPER2 VGNC VGNC:60394
Bos taurus CATSPER2 VGNC VGNC:26794
Rattus norvegicus CATSPER2 RGD RGD:1307620
Mus musculus CATSPER2 MGD MGI:2387404
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