Gene id |
200539 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
ANKRD23 Gene UCSC Ensembl |
Aliases |
DARP, MARP3 |
Gene name |
ankyrin repeat domain 23 |
Alternate names |
ankyrin repeat domain-containing protein 23, diabetes related ankyrin repeat protein, muscle ankyrin repeat protein 3, |
Gene location |
2q11.2 (96844020: 96837911) Exons: 9 NC_000002.12
|
Gene summary(Entrez) |
This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induce
|
OMIM |
610736 |
Protein Summary
|
Protein general information
| Q86SG2
Name: Ankyrin repeat domain containing protein 23 (Diabetes related ankyrin repeat protein) (Muscle ankyrin repeat protein 3)
Length: 305 Mass: 34297
Tissue specificity: Mainly expressed in heart, skeletal muscle and brown adipose tissues. {ECO
|
Sequence |
MDFISIQQLVSGERVEGKVLGFGHGVPDPGAWPSDWRRGPQEAVAREKLKLEEEKKKKLERFNSTRFNLDNLADL ENLVQRRKKRLRHRVPPRKPEPLVKPQSQAQVEPVGLEMFLKAAAENQEYLIDKYLTDGGDPNAHDKLHRTALHW ACLKGHSQLVNKLLVAGATVDARDLLDRTPVFWACRGGHLVILKQLLNQGARVNARDKIGSTPLHVAVRTRHPDC LEHLIECGAHLNAQDKEGDTALHEAVRHGSYKAMKLLLLYGAELGVRNAASVTPVQLARDWQRGIREALQAHVAH PRTRC
|
Structural information |
|
Other Databases |
GeneCards: ANKRD23  Malacards: ANKRD23 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0031432 |
titin binding
|
IEA |
molecular function |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0014704 |
intercalated disc
|
IEA |
cellular component |
GO:0009612 |
response to mechanical st imulus
|
IEA |
biological process |
GO:0030016 |
myofibril
|
IEA |
cellular component |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0031432 |
titin binding
|
IPI |
molecular function |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005654 |
nucleoplasm
|
IDA |
cellular component |
GO:0005829 |
cytosol
|
IDA |
cellular component |
GO:0015629 |
actin cytoskeleton
|
IDA |
cellular component |
|
|
Associated diseases |
References |
congestive heart failure | PMID:15238456 |
Cryptorchidism | MIK: 28606200 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|