CRISP2

cysteine rich secretory protein 2, the group of Cysteine rich secretory protein family

Basic information

Region (hg38): 6:49692358-49713590

Previous symbols: [ "GAPDL5", "TPX1" ]

Links

ENSG00000124490NCBI:7180OMIM:187430HGNC:12024Uniprot:P16562AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CRISP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRISP2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
missense
21
clinvar
1
clinvar
22
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
2
2
non coding
0
Total 0 0 21 2 0

Variants in CRISP2

This is a list of pathogenic ClinVar variants found in the CRISP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
6-49692862-C-G not specified Uncertain significance (Oct 06, 2024)3497137
6-49692864-C-G not specified Uncertain significance (Jul 25, 2023)2594637
6-49692870-C-T not specified Uncertain significance (Dec 10, 2024)3497138
6-49694421-GGGTCTAGAGGCCCACCAATCTGGATACCAATCTGCATACCAATCTGGATTTAGGAGCTGTGGGTTTCTTACTGGTGTGTGTTTTGTTGTGGCAGGCTCAGTACTAAATCCAAGGCAGAGTACCCCACACACTTCCTTCTCTTTCCCCCAAGTGGACAGTGTCTCTCTCCCCTCTGTGTTACCTAGGGTTTATGAGAGGGGTGATGCAGGCAATCCCATGGACACAGCAGCTGATACCAGCTGATACCATGACAGATGAATTCCAGACTTGTTAGCAAATAGCATTCAGCAAAATGTATAAGTATTCAACTATTTTTTTCTTTTTTTTTTTTTTGAGACAGTCTCGCTCTGTTGCCCTGGCTGGAGTGCAGTGGCCGAACTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATCCACCACCACACCTGGCTCATTTTTGTATTTTTAGTAGAGATGCAGTTTCACCGTATTGGCCAGGTTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTCTGCCTGATTTATAGCTTTGGTATCATTAATATTCTGAAATATAGCTATATAACTGAGTCAGAAAAAATGCTTAGTAAAGGTGAATGCATTGAAGAGGTAAAAATTTCAGTGATGGTGTCAACTTTATCATTCATAATAATTTTAATAAAAGTATCCCAACTACAGAAAGCCAGCAGCTATTTTTACTTCTATTCATGGCAATTTATTAAATGAGATATATGGTATTTATTTCATTTTCTCCTTTTGCAAAAATATGTGCACAGTTTCTATGAGCCAATATTGTATATAGATTGAGTTTTGTCATAAAAATGTACACAAAACAATTATGAAATTATAGGGCAAGTAATCATTTATTAAGGCAAACACTATGATCCTAATTATACTATAAAAAAGAAGTGAGGAAATCAGCATGACAAACACATTAGCACAAATAAACAGTAATATTTGGCGTGCCTGTCTAGACTGAGCCATAATGTGGTCTCACACTTTAGATTTATACATTTTGATTCCTTTAAAATACCACTTTTGGTATAGTGATATGAACTTTGAGAATTGAACTATTTACCAAAATGGTATATGGTTAATATTAAATGGCTCTGAAGAGCCACAAAAACACATTGATGATAAATATTCCATTATGTTACATACGGCAATATGCTTTTCATTACAAATAATATGTAGCTCCTGCAGTGTGTAAAATGTTTGTTTAAGCATACTTTGTTGAATAATTTTGGGTTTTTTCACCAATACATTATTTCAATTCATTACGTTAGGAGATTTGTTAAATTATATAAAGAAAAGATAATATCAATTCTATAATAAATAATAGCAAGCTAATCACTTCAAACTTACTGCATAGTCCTTTGTCACAGTCATCAGGGCAACCGGCACAAGGTGTTCCTTGTTGGTACGGGGTATTCTTTCTATTCATATTATTACCACTGAAATTTGAAATACATGTCAAATATTTTTCACTTTACTGTTTATACTCTAAGGGCAGTATCAGTCATCAAATATACATAAATAGTTATTCAGGGTTTTTAGTATGTTAACAAAACTGAAAAATTACAATTCCCAATGTGTATTTCAGATAACAATCCAAATTAAGAAAATGCTTCACACATGGACATATCTTCTTGACCATAATTTCACAGGCTGGGTAACTAAATTTGATGACAAGAGTCTGAAATTTTGAGAGTATATTCAGTGTGGCAACACTATCTTTATCTCCCATTATATTTAGTCAAATTACTAAGGCAGTGTACCCCAAGGTGCCAATTAGGGGTAAAACATCCTGTAGAGGGAAAGGAGAAGATCCTAGGAGTAGCAGGTTGTGGCAGGAAATGAATATGCAATGTTAAAATATCATTTTCCATTTGAAAAATGGAAAAAACTCCATAGTATCTCTAACAGAAACTATGAAAAATATAGCTCCAGAGTATTTTTTTCTTCCAGATGGAGGTTGCGATTTTTCAGTAGTTAGTGGTGTGTGTGTTTGTAGGAGTGTGCTTAGGAAGGTTTGTGAGCTTCTAGAGGTGGCATGTATGAGATTTTTACATTTACCAAAATGGAATATTAGTTTTTGTTATCCCAGAACTTAAAGTAAAAAAAAAAAAAAGAAAAAAAGATTAAAGAAAAGTTTTGATAAATACTGATATCCAGGATATAATAGTTTTGCAATGATTAACCATAGGATAATGATGATCATTATTCTATTGGCCATTAAATTCATTTAAAATTATGTGGGAGTCCAAATCTCAATAGACCAAGTGGGGTAAGGACCCAAGGAAGTGCAGCTGAATCTCAGTCTCTTTGCCTAGAATATAGCTGTGTGTGTATGAGCTCTTGGAAAATTGTGAAACAGATATAAAAGGATTTTAAAAGTTCTAGTTCCCTTGGCTTCCCTCAT-G Megacolon Uncertain significance (Jan 01, 2020)974734
6-49695863-G-C not specified Uncertain significance (Jul 14, 2021)2237263
6-49695868-C-T not specified Uncertain significance (Jun 21, 2023)2589573
6-49695869-C-T not specified Likely benign (May 23, 2024)3269536
6-49695878-G-A not specified Uncertain significance (Mar 21, 2022)2279167
6-49695907-C-G not specified Uncertain significance (Jan 23, 2024)3077488
6-49695911-T-C not specified Uncertain significance (Jul 05, 2023)2593281
6-49697879-C-T not specified Uncertain significance (Sep 17, 2021)2243373
6-49698399-G-C not specified Uncertain significance (Oct 13, 2021)2355539
6-49698400-G-T not specified Uncertain significance (Oct 20, 2023)3077486
6-49698415-C-G not specified Uncertain significance (Mar 24, 2023)2529338
6-49698430-C-T not specified Uncertain significance (Aug 16, 2021)2208728
6-49698460-A-G not specified Uncertain significance (Jan 10, 2023)2473011
6-49699869-G-A not specified Uncertain significance (Sep 07, 2022)2362121
6-49699888-A-G not specified Uncertain significance (Jul 17, 2024)3497136
6-49700663-C-T Likely benign (Feb 08, 2018)783463
6-49700671-C-A not specified Uncertain significance (Aug 14, 2023)2618420
6-49700692-T-C Likely benign (Aug 16, 2018)776128
6-49700756-G-A not specified Uncertain significance (May 26, 2024)3269537
6-49709125-C-G Likely benign (Jun 08, 2018)718016
6-49709147-A-G not specified Uncertain significance (May 25, 2022)2396765
6-49709163-C-G not specified Uncertain significance (Feb 28, 2023)2463294

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CRISP2protein_codingprotein_codingENST00000339139 721202
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.44e-120.014312563401031257370.000410
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4561431281.110.000006291591
Missense in Polyphen5951.7831.1394633
Synonymous0.3014648.70.9450.00000269433
Loss of Function-0.4881715.01.147.32e-7173

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.003400.00339
Ashkenazi Jewish0.0008090.000794
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.0002120.000211
Middle Eastern0.0001090.000109
South Asian0.0001650.000163
Other0.0001640.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: May regulate some ion channels' activity and therebye regulate calcium fluxes during sperm capacitation. {ECO:0000250}.;

Recessive Scores

pRec
0.0644

Intolerance Scores

loftool
0.984
rvis_EVS
0.95
rvis_percentile_EVS
90.01

Haploinsufficiency Scores

pHI
0.246
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.254

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Crisp2
Phenotype

Gene ontology

Biological process
Cellular component
extracellular space
Molecular function