CD68

CD68 molecule, the group of CD molecules|Scavenger receptors|Lysosome associated membrane proteins

Basic information

Region (hg38): 17:7579490-7582111

Links

ENSG00000129226 ∙ NCBI:968 ∙ OMIM:153634 ∙ HGNC:1693 ∙ Uniprot:P34810 ∙ 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 CD68 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD68 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				3	1	4
missense			21		2	23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	21	4	3

Variants in CD68

This is a list of pathogenic ClinVar variants found in the CD68 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-7579704-G-C			Likely benign (Jul 05, 2018)
17-7579706-C-T		not specified	Uncertain significance (Dec 28, 2022)
17-7579814-G-A			Benign (Jun 22, 2018)
17-7579878-C-T		not specified	Uncertain significance (Nov 15, 2021)
17-7579882-C-T			Benign (Jun 27, 2018)
17-7579936-C-G		not specified	Uncertain significance (Jun 02, 2023)
17-7579936-C-T		not specified	Uncertain significance (Apr 05, 2024)
17-7579962-G-A		not specified	Uncertain significance (Nov 10, 2022)
17-7579980-C-G		not specified	Uncertain significance (Apr 05, 2024)
17-7579984-C-T		not specified	Uncertain significance (Oct 04, 2022)
17-7580008-C-T		not specified	Uncertain significance (Nov 06, 2023)
17-7580013-A-C		not specified	Uncertain significance (Dec 30, 2023)
17-7580050-G-A		not specified	Uncertain significance (Aug 13, 2021)
17-7580121-G-A		not specified	Uncertain significance (Jun 11, 2024)
17-7580208-A-G		not specified	Uncertain significance (Apr 17, 2024)
17-7580230-T-C		not specified	Uncertain significance (Aug 12, 2022)
17-7580309-A-G			Likely benign (Apr 10, 2018)
17-7580311-C-T		not specified	Uncertain significance (May 23, 2023)
17-7580533-C-T		not specified	Uncertain significance (Sep 14, 2023)
17-7580538-C-T			Likely benign (Apr 10, 2018)
17-7580550-T-C		not specified	Uncertain significance (Jun 11, 2021)
17-7580557-A-G		not specified	Uncertain significance (Oct 14, 2023)
17-7580744-A-G		not specified	Uncertain significance (Jan 26, 2022)
17-7580908-C-T		not specified	Uncertain significance (Nov 03, 2023)
17-7580977-G-A		not specified	Uncertain significance (May 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD68	protein_coding	protein_coding	ENST00000250092	6	2645

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000141	0.632	125707	0	40	125747	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.365	187	202	0.928	0.0000106	2276
Missense in Polyphen		53	71.544	0.7408		872
Synonymous	-0.633	92	84.6	1.09	0.00000489	777
Loss of Function	1.01	11	15.3	0.721	9.82e-7	140

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000487	0.000485
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000163	0.000158
Middle Eastern	0.000381	0.000381
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. Binds to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. Rapid recirculation of CD68 from endosomes and lysosomes to the plasma membrane may allow macrophages to crawl over selectin-bearing substrates or other cells.
• Pathway: Lysosome - Homo sapiens (human);Macrophage markers;Macrophage markers;Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.807

Intolerance Scores

• loftool: 0.792
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.59

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.372
• ghis: 0.443

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.799

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cd68
• Phenotype: skeleton phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: neutrophil degranulation
• Cellular component: plasma membrane;endosome membrane;membrane;integral component of membrane;azurophil granule membrane