CATSPER2 - cation channel sperm associated 2 Gene

Homo sapiens

Gene ID: 117155 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16740636	GOA
enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	21412338	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in calcium ion transport	IDA IDA: Inferred from direct assay	21412338	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CATSPER2 Protein Structure

Ion_trans

0
100
200
300
400
500
530 a.a.

Protein Preferred Names

Protein Names

cation channel sperm-associated protein 2

sperm ion channel

CATSPER2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CATSPER2	Q96P56	CACNA1I	Homo sapiens	Q9P0X4	Anti Bait CoIP	16740636

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01985	CATSPER2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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