• Gene id: 8476

Gene Summary

• Gene Symbol: CDC42BPA   Gene   UCSC   Ensembl
• Aliases: MRCK, MRCKA, PK428
• Gene name: CDC42 binding protein kinase alpha
• Alternate names: serine/threonine-protein kinase MRCK alpha, CDC42 binding protein kinase alpha (DMPK-like), CDC42 binding protein kinase beta, myotonic dystrophy kinase-related CDC42-binding protein kinase alpha, myotonic dystrophy protein kinase-like alpha, ser-thr protein k,
• Gene location: 1q42.13 (227318501: 226989857)     Exons: 42     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also con
• OMIM: 603412

SNPs

rs10848911

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.3705072G>A
NC_000012.12   g.3705072G>T
NC_000012.11   g.3814238G>A
NC_000012.11   g.3814238G>T|SEQ=[G/A/T]|GENE=CRACR2A

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

Diseases

Associated diseases	References
Chronic renal failure	GAD: 21085059
Non obstructive azoospermia	MIK: 24852083
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Non-obstructive azoospermia (NOA)	MIK: 24852083
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 24852083
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24852083	Non-obstructive azoospermia (NOA), Male infertility		rs70992 08, rs3 000811, rs1320 6743	9513 (3,608 NOA cases, 5,909 controls)	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq