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FLASH GENE

Symbol

CATSPER2

contributors: mct - updated : 22-03-2019

HGNC name	cation channel, sperm associated 2
HGNC id	18810

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DIS deafness-infertility syndrome
Location	15q14      Physical location : 43.922.773 - 43.941.039
Synonym name	putative ion channel protein CATSPER2

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
text	being part of a tandem repeat on chromosome 15q14 (the second copy of this gene is thought to be a pseudogene)
STRUCTURE	18.00 kb     15 Exon(s)    2 Copie(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - CATSPER2A - splicing 1942 61.7 528 - Quill 13 exons using an alternate in-frame splice site in the coding region compared to variant 2 variant 2 - CATSPER2B - splicing 1948 61.9 530 - Quill 13 exons variant 4 - splicing 1678 23.3 199 - Quill 5 exons using an alternate splice site in the coding region compared to variant 2

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous nerve       predominantly Reproductive male system testis     specific   male system prostate     highly Visual eye       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	highly in umbilical cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a Ca2+ ion selective pore domain
	a cellular localization
	six transmembrane segments

HOMOLOGY

interspecies

homolog to murine Catsper2 (67.7pc)

Homologene

FAMILY

CATEGORY

regulatory , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	localized in sperm flagellum

basic FUNCTION	involved in sperm cell motility
	expressed during the meiotic or postmeiotic stages of spermatogenesis
	having required roles in male fertility
	CATSPER channel complex serves as a polymodal sensor for multiple chemical cues that assist sperm during their voyage across the female genital tract
	CATSPER1, CATSPER2 are voltage-dependent calcium channels located in the plasma membrane of the sperm flagellum and is responsible for triggering hyperactive motility

CELLULAR PROCESS	cell cycle,division,meiosis
	cell migration & motility

PHYSIOLOGICAL PROCESS

reproduction/sex

text	cation transport (voltage-gated ion channel)
	spermatogenesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

molecular mechanism responsible for activation of CATSPER1, CATSPER2 by progesterone arises early in sperm development concurrently with the CATSPER channel itself

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DIS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function in asthenoteratozoospermia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Catsper2 -/- mice