CD14

CD14 molecule, the group of CD molecules|Scavenger receptors

Basic information

Region (hg38): 5:140631727-140633700

Links

ENSG00000170458 ∙ NCBI:929 ∙ OMIM:158120 ∙ HGNC:1628 ∙ Uniprot:P08571 ∙ 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 CD14 gene.

• Inborn genetic diseases (15 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD14 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	1
missense			15		1	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	2

Variants in CD14

This is a list of pathogenic ClinVar variants found in the CD14 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-140631909-C-T		not specified	Uncertain significance (Dec 13, 2022)
5-140631959-C-T		not specified	Likely benign (Mar 16, 2022)
5-140631963-C-T		CD14-related disorder	Likely benign (Jul 28, 2022)
5-140631964-G-T		not specified	Likely benign (Sep 22, 2023)
5-140631966-G-A		not specified	Uncertain significance (Nov 17, 2022)
5-140632061-C-T		not specified	Uncertain significance (Apr 06, 2022)
5-140632063-G-T		not specified	Uncertain significance (Jun 14, 2023)
5-140632158-T-C		not specified	Uncertain significance (Oct 20, 2023)
5-140632184-G-A		not specified	Uncertain significance (Nov 15, 2021)
5-140632232-G-C		not specified	Uncertain significance (Nov 10, 2022)
5-140632282-C-T			Benign (Jul 11, 2018)
5-140632287-C-G		not specified	Uncertain significance (Jul 12, 2022)
5-140632424-C-G		not specified	Uncertain significance (Apr 13, 2022)
5-140632529-A-T		not specified	Uncertain significance (Dec 08, 2023)
5-140632546-G-A			Benign (Oct 22, 2018)
5-140632550-G-T		not specified	Uncertain significance (Aug 17, 2021)
5-140632556-G-C		not specified	Uncertain significance (Apr 06, 2022)
5-140632603-C-A		not specified	Uncertain significance (Apr 27, 2022)
5-140632644-C-T		not specified	Uncertain significance (Jun 06, 2022)
5-140632652-C-T		not specified	Uncertain significance (Aug 17, 2021)
5-140632692-C-A		not specified	Uncertain significance (May 03, 2023)
5-140632719-G-A		not specified	Uncertain significance (Mar 22, 2022)
5-140632778-A-C		not specified	Uncertain significance (Jan 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD14	protein_coding	protein_coding	ENST00000302014	2	1974

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000488	0.441	125682	0	64	125746	0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.551	219	243	0.901	0.0000158	2356
Missense in Polyphen		56	60.815	0.92083		701
Synonymous	1.79	99	124	0.796	0.00000898	893
Loss of Function	0.347	7	8.06	0.868	3.50e-7	81

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00213	0.00208
Ashkenazi Jewish	0.00	0.00
East Asian	0.000327	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000123	0.000123
Middle Eastern	0.000327	0.000326
South Asian	0.000229	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Coreceptor for bacterial lipopolysaccharide (PubMed:1698311, PubMed:23264655). In concert with LBP, binds to monomeric lipopolysaccharide and delivers it to the LY96/TLR4 complex, thereby mediating the innate immune response to bacterial lipopolysaccharide (LPS) (PubMed:20133493, PubMed:23264655). Acts via MyD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:8612135). Acts as a coreceptor for TLR2:TLR6 heterodimer in response to diacylated lipopeptides and for TLR2:TLR1 heterodimer in response to triacylated lipopeptides, these clusters trigger signaling from the cell surface and subsequently are targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Binds electronegative LDL (LDL(-)) and mediates the cytokine release induced by LDL(-) (PubMed:23880187). {ECO:0000269|PubMed:16880211, ECO:0000269|PubMed:1698311, ECO:0000269|PubMed:20133493, ECO:0000269|PubMed:23264655, ECO:0000269|PubMed:23880187, ECO:0000269|PubMed:8612135}.
• Pathway: Pertussis - Homo sapiens (human);Salmonella infection - Homo sapiens (human);Legionellosis - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);Phagosome - Homo sapiens (human);Amoebiasis - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);Tuberculosis - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Pathogenic Escherichia coli infection - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);Regulation of toll-like receptor signaling pathway;Pathogenic Escherichia coli infection;Vitamin D Receptor Pathway;MAPK Signaling Pathway;Macrophage markers;Fibrin Complement Receptor 3 Signaling Pathway;Macrophage markers;Regulation of Actin Cytoskeleton;Toll-like Receptor Signaling Pathway;TLR NFkB;Neutrophil degranulation;toll-like receptor pathway;Toll-Like Receptors Cascades;Ligand-dependent caspase activation;Caspase activation via extrinsic apoptotic signalling pathway;Innate Immune System;Immune System;Apoptosis;Programmed Cell Death;Adaptive Immune System;inactivation of gsk3 by akt causes accumulation of b-catenin in alveolar macrophages;Antigen processing-Cross presentation;Class I MHC mediated antigen processing & presentation;TLR p38;Regulation of TLR by endogenous ligand;ER-Phagosome pathway;TLR ECSIT MEKK1 JNK;TLR ECSIT MEKK1 p38;Transfer of LPS from LBP carrier to CD14;TLR JNK;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;IKK complex recruitment mediated by RIP1;TRIF-mediated programmed cell death;TRAF6-mediated induction of TAK1 complex within TLR4 complex;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade;Endogenous TLR signaling;Beta1 integrin cell surface interactions;Alpha4 beta1 integrin signaling events (Consensus)

Recessive Scores

• pRec: 0.333

Intolerance Scores

• loftool: 0.196
• rvis_EVS: -0.71
• rvis_percentile_EVS: 14.4

Haploinsufficiency Scores

• pHI: 0.0863
• hipred: N
• hipred_score: 0.238
• ghis: 0.593

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.493

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cd14
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype; immune system phenotype; respiratory system phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); skeleton phenotype

Gene ontology

• Biological process: toll-like receptor signaling pathway;MyD88-dependent toll-like receptor signaling pathway;MyD88-independent toll-like receptor signaling pathway;receptor-mediated endocytosis;phagocytosis;apoptotic process;inflammatory response;cell surface receptor signaling pathway;I-kappaB kinase/NF-kappaB signaling;response to heat;lipopolysaccharide-mediated signaling pathway;response to magnesium ion;positive regulation of type I interferon production;positive regulation of interferon-gamma production;positive regulation of tumor necrosis factor production;negative regulation of MyD88-independent toll-like receptor signaling pathway;toll-like receptor 4 signaling pathway;response to tumor necrosis factor;TRIF-dependent toll-like receptor signaling pathway;toll-like receptor TLR1:TLR2 signaling pathway;toll-like receptor TLR6:TLR2 signaling pathway;neutrophil degranulation;innate immune response;response to ethanol;positive regulation of endocytosis;positive regulation of cytokine secretion;response to electrical stimulus;necroptotic process;cellular response to molecule of bacterial origin;cellular response to lipopolysaccharide;cellular response to lipoteichoic acid;cellular response to diacyl bacterial lipopeptide;cellular response to triacyl bacterial lipopeptide;apoptotic signaling pathway;positive regulation of NIK/NF-kappaB signaling;positive regulation of interleukin-8 secretion
• Cellular component: extracellular region;extracellular space;Golgi apparatus;plasma membrane;external side of plasma membrane;cell surface;endosome membrane;secretory granule membrane;anchored component of external side of plasma membrane;membrane raft;lipopolysaccharide receptor complex;extracellular exosome
• Molecular function: lipopolysaccharide binding;opsonin receptor activity;protein binding;peptidoglycan receptor activity;lipoteichoic acid binding;lipopeptide binding