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FLASH GENE

Symbol

CSTF2T

contributors: mct - updated : 19-01-2016

HGNC name	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant
HGNC id	17086

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	10q21.1      Physical location : 53.455.246 - 53.459.355
Synonym name	like ortholog of mouse variant polyadenylation protein CSTF-64
	cDNA sequence, expressed in brain, 60kDa, related to cleavage stimulation factor 64 kDa subunit
	CF-1 64 kDa subunit, tau variant
Synonym symbol(s)	KIAA0689, DKFZp434C1013, CstF-64T, TauCstF-64

DNA

TYPE	functioning gene
STRUCTURE	4.11 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	alternative promoter
text structure	alternatively polyadenylated in some tissues

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015235 1 - 4127 NP_056050 64.3 616 - 2013 24149845

EXPRESSION

Type

widely

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 blood / hematopoietic thymus         Cardiovascular heart         Nervous brain         Reproductive female system ovary         male system testis       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cell lineage	germ cells
cell lines
fluid/secretion

at STAGE

physiological period

fetal

Text

eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N terminal RNA binding motif (RNA recognition motif)

HOMOLOGY

interspecies

ortholog to murine Cstf-64

intraspecies

homolog to cleavage stimulation factor 64 kDa subunit

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus
text	expressed during meiosis and subsequent haploid differentiation

basic FUNCTION	playing an essential role for normal transcription during meiosis
	promotes germ-cell-specific patterns of polyadenylation by binding to different downstream sequence elements
	CSTF2, CSTF2T differ in their affinities for specific RNA sequences, and the region C-terminal to the RBDs (RNA-binding domains) is mportant in RNA sequence recognition
	required not only for expression of genes involved in morphological differentiation of spermatids but also for genes having products that function during interaction of motile spermatozoa with eggs
	necessary for spermatogenesis and fertilization
	its function is primarily to support spermatogenesis, but only incidentally to support immune cell function
	plays likely a role in 3prime end determination and transcription termination for a large range of germ cell-expressed genes
	functional overlap and specificity of CSTF2, CSTF2T mRNA 3 prime processing factors and provided new insights into the regulatory mechanisms of mRNA 3 prime processing

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interactions between CSTF2/CSTF2T and CSTF3 are important for the maintenance of stoichiometric nuclear levels of the CSTF complex components and for their intracellular localization, stability, and function

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   loss of polyadenylation protein CSTF2T causes spermatogenic defects and male infertility

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

spermatozoa from Cstf2t null mutant (Cstf2t(-/-)) mice of ages ranging from 60 to 108 days postpartum exhibited severe defects in motility and morphology that were correlated with a decrease in numbers of round spermatids