Cdk2ap1 MGI Mouse Gene Detail - MGI:1202069 - cyclin dependent kinase 2 associated protein 1

Symbol

Cdk2ap1
Name

cyclin dependent kinase 2 associated protein 1
Synonyms

Doc1, DORC1, p12, ST19

Feature Type

protein coding gene
IDs

MGI:1202069
NCBI Gene: 13445
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr5:124483502-124492691 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 63.53 cM
Mapping Data

3 experiments

SNPs within 2kb

232 from dbSNP Build 142
Strain Annotations

17

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1202069	protein coding gene	Chr5:124483480-124501145 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0030093	protein coding gene	Chr5:128149482-128171730 (-)
A/J	MGP_AJ_G0030058	protein coding gene	Chr5:122816803-122834997 (-)
AKR/J	MGP_AKRJ_G0029994	protein coding gene	Chr5:126769795-126792472 (-)
BALB/cJ	MGP_BALBcJ_G0030069	protein coding gene	Chr5:124151205-124170160 (-)
C3H/HeJ	MGP_C3HHeJ_G0029786	protein coding gene	Chr5:127382545-127397757 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0030522	protein coding gene	Chr5:133112811-133139109 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027748	protein coding gene	Chr5:117345325-117354415 (-)
CAST/EiJ	MGP_CASTEiJ_G0029195	protein coding gene	Chr5:126499263-126508183 (-)
CBA/J	MGP_CBAJ_G0029756	protein coding gene	Chr5:138342846-138367798 (-)
DBA/2J	MGP_DBA2J_G0029906	protein coding gene	Chr5:122833965-122853313 (-)
FVB/NJ	MGP_FVBNJ_G0029862	protein coding gene	Chr5:121870237-121887425 (-)
LP/J	MGP_LPJ_G0029995	protein coding gene	Chr5:128697879-128716981 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029893	protein coding gene	Chr5:141917652-141943103 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030563	protein coding gene	Chr5:126385121-126407533 (-)
PWK/PhJ	MGP_PWKPhJ_G0028909	protein coding gene	Chr5:121654027-121663713 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0028746	protein coding gene	Chr5:124034020-124043914 (-)
WSB/EiJ	no annotation

Human Ortholog

CDK2AP1, cyclin dependent kinase 2 associated protein 1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CDK2AP1, cyclin dependent kinase 2 associated protein 1
Synonyms

doc-1, DOC1, DORC1, p12DOC-1, ST19
Links

HGNC:14002

NCBI Gene ID: 8099

neXtProt AC: NX_O14519

UniProt: O14519
Chr Location

12q24.31; chr12:123250112-123272334 (-) GRCh38

MGI Vertebrate Homology

Cdk2ap1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: CDK2AP1
Protein SuperFamily

CDK2-associated_p2
Gene Tree

Cdk2ap1

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
1 images
15 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

59
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

53
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Cdk2ap1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

62 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mic homozygous for a knock-out allele die between E3.5 and E5.5 with rare survivors exhibiting craniofacial defect.

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All GO Annotations

15
GO References

5

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

718
Tissues

8
cDNA Data

124
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA CDK2AP1

Xenbase cdk2ap1

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All Sequences

44
RefSeq

2
UniProt

1
CCDS

CCDS39279.1

Ensembl

ENSMUSG00000029394 (Evidence)
NCBI Gene

13445

			Length	Strain/Species	Flank
genomic	13445	NCBI Gene Model \| MGI Sequence Detail	9190	C57BL/6J	± kb
transcript	NM_013812	RefSeq \| MGI Sequence Detail	1283	Not Specified
polypeptide	O35207	UniProt \| EBI \| MGI Sequence Detail	114	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000005254 cyclin-dependent kinase 2-associated protein 1

(term hierarchy)

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All nucleic 127

Genomic 1

cDNA 124

Primer pair 2

Microarray probesets 4

Summaries

All 49

Developmental Gene Expression 6

Gene Ontology 5

Phenotypes 15
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:317152 Dehghan Z, et al., MicroRNA-21 is involved in oocyte maturation, blastocyst formation, and pre-implantation embryo development. Dev Biol. 2021 Dec;480:69-77

TSS for Cdk2ap1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr53347	Chr5:124492868-124492884 (-)	-185 bp
Tssr53346	Chr5:124492819-124492840 (-)	-139 bp
Tssr53345	Chr5:124492602-124492617 (-)	81 bp
Tssr53344	Chr5:124490320-124490365 (-)	2,348 bp
Tssr53343	Chr5:124489330-124489349 (-)	3,351 bp
Tssr53342	Chr5:124489288-124489318 (-)	3,388 bp
Tssr53341	Chr5:124489246-124489287 (-)	3,424 bp
Tssr53340	Chr5:124488975-124488987 (-)	3,710 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24