CD180

CD180 molecule, the group of CD molecules

Basic information

Region (hg38): 5:67179613-67196799

Previous symbols: [ "LY64" ]

Links

ENSG00000134061 ∙ NCBI:4064 ∙ OMIM:602226 ∙ HGNC:6726 ∙ Uniprot:Q99467 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CD180 gene.

• not_specified (78 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD180 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005582.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	3	6
missense			75	3	1	79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	6	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD180	protein_coding	protein_coding	ENST00000256447	3	14525

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000684	0.916	125341	2	404	125747	0.00162

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.194	333	343	0.971	0.0000171	4416
Missense in Polyphen		87	92.806	0.93744		1329
Synonymous	-0.303	143	138	1.03	0.00000740	1279
Loss of Function	1.59	9	15.8	0.569	6.70e-7	220

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00187	0.00187
Ashkenazi Jewish	0.00647	0.00647
East Asian	0.000222	0.000217
Finnish	0.00130	0.00129
European (Non-Finnish)	0.00157	0.00156
Middle Eastern	0.000222	0.000217
South Asian	0.00229	0.00219
Other	0.000981	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May cooperate with MD-1 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) in B-cells. Leads to NF-kappa-B activation. Also involved in the life/death decision of B-cells (By similarity). {ECO:0000250}.
• Pathway: Regulation of toll-like receptor signaling pathway;Toll-Like Receptors Cascades;Innate Immune System;Immune System;Toll Like Receptor 4 (TLR4) Cascade (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.645
• rvis_EVS: 0.07
• rvis_percentile_EVS: 59.11

Haploinsufficiency Scores

• pHI: 0.0612
• hipred: N
• hipred_score: 0.112
• ghis: 0.490

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.769

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cd180
• Phenotype: hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); renal/urinary system phenotype; immune system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: B cell proliferation involved in immune response;inflammatory response;positive regulation of lipopolysaccharide-mediated signaling pathway;innate immune response;cellular response to lipopolysaccharide
• Cellular component: extracellular space;plasma membrane;integral component of membrane;extracellular matrix
• Molecular function: protein binding