FertilityOnline | Spermatogenes

Detail Information of SG012805

SG ID

SG012805

Gene Name

AFF2

Gene Synonyms/Alias

FMR2, FMR2P, FRAXE, MRX2, OX19

Organism

Homo sapiens

NCBI Taxonomy ID

9606

Ensembl Gene ID

Ensembl Protein ID

Description

AF4/FMR2 family member 2 [Homo sapiens (human)]

Orthology

Status

Uncertain

Function in Stage
Function in Cell Type
The information of related literature
Figures for illustrating the function of this protein/gene
Functional description	-
Protein complex
Pathway
Human diseases	Fragile x-e mental retardation syndrome (fraxe)
OMIM	300806
Spermatogenesis failure

Tissue specificity (in Homo sapiens)	Expressed highest in placenta
Testicular Cell specificity (in Mus musculus)	Expressed highest in spermatogonium
Testicular scRNA-seq (in Homo sapiens)	View detail
Testicular scRNA-seq (in Mus musculus)	View detail
Subcellular location	Nucleus speckle

Variants founded in public databases	1000G (Phase 3): 10136 ESP6500 (SI-V2): 158 ExAC (r0.3.1): 759 dbSNP(Build 147): 18996
Variants founded in in-house datasets	Chinese health control (254): 7 European health control (283): Chinese patients (168):
De novo Mutation Rate	Gene Name: AFF2 DNMR-average: 0.0000511266666667 DNMR-SC: 0.0000517915

Protein-Protein interaction information

Protein family and Domain