ICAM2

intercellular adhesion molecule 2, the group of CD molecules|Ig-like cell adhesion molecule family|Receptor ligands|Immunoglobulin like domain containing

Basic information

Region (hg38): 17:64002594-64020634

Links

ENSG00000108622NCBI:3384OMIM:146630HGNC:5345Uniprot:P13598AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ICAM2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ICAM2 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
0
missense
24
clinvar
6
clinvar
30
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 24 6 0

Variants in ICAM2

This is a list of pathogenic ClinVar variants found in the ICAM2 region.

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

Position Type Phenotype Significance ClinVar
17-64002787-C-T not specified Likely benign (Dec 19, 2022)2214426
17-64002791-C-T not specified Uncertain significance (Dec 11, 2023)3107895
17-64002817-C-T not specified Likely benign (Aug 04, 2023)2592622
17-64002860-C-T not specified Uncertain significance (Nov 27, 2024)3527389
17-64002861-G-C not specified Uncertain significance (Feb 09, 2023)2454334
17-64002868-G-A not specified Likely benign (May 06, 2024)3285173
17-64002883-A-G not specified Uncertain significance (Aug 22, 2023)2620709
17-64002895-A-T not specified Uncertain significance (Jan 08, 2025)3859254
17-64003658-A-G not specified Uncertain significance (Apr 22, 2024)3285174
17-64003686-T-A not specified Uncertain significance (Aug 11, 2024)3527388
17-64003695-C-T not specified Uncertain significance (Dec 27, 2023)3107893
17-64003751-C-T not specified Uncertain significance (Mar 20, 2024)3285170
17-64003754-T-C not specified Uncertain significance (Apr 09, 2024)3285172
17-64003809-C-T not specified Uncertain significance (May 03, 2023)2514972
17-64003862-C-T not specified Uncertain significance (Apr 06, 2022)2281394
17-64003872-G-C not specified Uncertain significance (Jun 24, 2022)2296208
17-64003898-A-G not specified Uncertain significance (Dec 21, 2022)2341127
17-64003920-C-A not specified Uncertain significance (Jul 17, 2024)3527386
17-64003947-T-C not specified Uncertain significance (Apr 23, 2024)3285175
17-64005119-C-T not specified Likely benign (Nov 08, 2022)2323583
17-64005137-C-T not specified Likely benign (Jan 03, 2024)3107892
17-64005175-G-A not specified Uncertain significance (Jan 17, 2024)3107891
17-64005180-A-T not specified Likely benign (Aug 28, 2024)3527385
17-64005224-C-T not specified Uncertain significance (May 16, 2022)2289767
17-64005274-T-C not specified Uncertain significance (Jul 25, 2024)3527387

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ICAM2protein_codingprotein_codingENST00000412356 418041
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0007500.7801257280191257470.0000756
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4061571720.9130.00001051784
Missense in Polyphen4147.3780.86538541
Synonymous0.5557278.20.9200.00000521578
Loss of Function1.0469.430.6365.84e-796

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.0003260.000326
Finnish0.00009310.0000924
European (Non-Finnish)0.00006170.0000615
Middle Eastern0.0003260.000326
South Asian0.0001310.000131
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM2 may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen- specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance.;
Pathway
Cell adhesion molecules (CAMs) - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Human Complement System;Ebola Virus Pathway on Host;Ebola Virus Pathway on Host;Integrin cell surface interactions;CD209 (DC-SIGN) signaling;C-type lectin receptors (CLRs);Extracellular matrix organization;Innate Immune System;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;Beta2 integrin cell surface interactions (Consensus)

Recessive Scores

pRec
0.228

Intolerance Scores

loftool
0.764
rvis_EVS
-0.23
rvis_percentile_EVS
37.11

Haploinsufficiency Scores

pHI
0.104
hipred
N
hipred_score
0.145
ghis
0.393

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.857

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Icam2
Phenotype
hematopoietic system phenotype; respiratory system phenotype; immune system phenotype;

Gene ontology

Biological process
stimulatory C-type lectin receptor signaling pathway;cell adhesion;extracellular matrix organization;regulation of immune response;cell-cell adhesion
Cellular component
uropod;plasma membrane;integral component of plasma membrane;microvillus;membrane;cleavage furrow
Molecular function
integrin binding