CDK5RAP2 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CDK5RAP2 (HGNC:18672) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CDK5 regulatory subunit associated protein 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MCPH3
- Alias symbols
- C48, FLJ10867, CEP215
- %HI
- 55.08(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.69(Read more about gnomAD LOEUF score)
- Cytoband
- 9q33.2
- Genomic Coordinates
-
GRCh37/hg19: chr9:123151153-123342445 NCBI Ensembl UCSC GRCh38/hg38: chr9:120388875-120580167 NCBI Ensembl UCSC - MANE Select Transcript
- NM_018249.6 ENST00000349780.9 (Read more about MANE Select)
- Function
- Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regu... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-34850
ClinGen Curation ID:
CCID:006825
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- microcephaly 3, primary, autosomal recessive Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000009.11)
(NC_000009.12)