|
Gene id |
10566 |
| Gene Summary SNPs Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
AKAP3 Gene UCSC Ensembl |
|
Aliases |
AKAP 110, AKAP110, CT82, FSP95, HEL159, PRKA3, SOB1 |
|
Gene name |
A-kinase anchoring protein 3 |
|
Alternate names |
A-kinase anchor protein 3, A kinase (PRKA) anchor protein 3, A-kinase anchor protein, 110kDa, Fibrous Sheath Protein of 95 kDa, cancer/testis antigen 82, epididymis luminal protein 159, epididymis secretory sperm binding protein, fibrousheathin I, fibrousheathin-, |
|
Gene location |
12p13.32 (4649050: 4615507) Exons: 6 NC_000021.9
|
|
Gene summary(Entrez) |
This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions
|
|
OMIM |
604689 |
SNPs |
rs12520985
Strand: Allele origin: Allele change: Mutation type: snv
NC_000005.10 g.133911770T>G
NC_000005.9 g.133247461T>G|SEQ=[T/G]|GENE=WSPAR
|
|
| Associated diseases |
References |
| Sperm fibrous sheath dysplasia | MIK: 15980003 |
| Male factor infertility | MIK: 15980003 |
| Spermatogenesis defects | MIK: 24648398 |
| Male infertility with sperm fibrous sheath dysplasia | MIK: 15980003 |
| Non obstructive azoospermia | MIK: 24012201 |
| Sertoli cell only syndrome | MIK: 23869807 |
| Regulates mouse spermiogenesis | MIK: 24648398 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 15980003 |
Male infer
tility wit
h sperm fi
brous shea
th dysplas
ia
|
|
|
|
Male infertility |
|
Show abstract |
| 24648398 |
Regulates
mouse sper
miogenesis
|
|
|
|
Male infertility |
|
Show abstract |
| 24012201 |
Non obstru
ctive azoo
spermia
|
|
|
31 (4 controls,
27 cases)
|
Male infertility |
GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 23869807 |
Non obstru
ctive azoo
spermia, S
ertoli cel
l only syn
drome
|
|
|
20 (4 controls,
16 cases)
|
Male infertility |
GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|