CATSPER2 - cation channel sperm associated 2 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 117155

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 References 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 References 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

Ion_trans: Ion transport protein (151 - 340)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

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 Set / 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
Others CATSPER2 NCBI