CD68 CD68 molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD68provided by HGNC
Official Full Name: CD68 moleculeprovided by HGNC
Primary source: HGNC:HGNC:1693
See related: Ensembl:ENSG00000129226 MIM:153634; AllianceGenome:HGNC:1693
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GP110; LAMP4; SCARD1
Summary: This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression: Broad expression in spleen (RPKM 159.3), lung (RPKM 115.5) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (7579638..7582111)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (7483886..7486361)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7482956..7485429)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of CD68 in the tumor immune microenvironment in Hodgkin's lymphoma.
Title: Role of CD68 in the tumor immune microenvironment in Hodgkin's lymphoma.
Unraveling the potential of CD8, CD68, and VISTA as diagnostic and prognostic markers in patients with pancreatic ductal adenocarcinoma.
Title: Unraveling the potential of CD8, CD68, and VISTA as diagnostic and prognostic markers in patients with pancreatic ductal adenocarcinoma.
CD68 expression in the placenta of gestational diabetic mothers: A case-control study.
Title: CD68 expression in the placenta of gestational diabetic mothers: A case-control study.
Microglial CD68 and L-ferritin upregulation in response to phosphorylated-TDP-43 pathology in the amyotrophic lateral sclerosis brain.
Title: Microglial CD68 and L-ferritin upregulation in response to phosphorylated-TDP-43 pathology in the amyotrophic lateral sclerosis brain.
Impact of vitamin D in children with chronic tonsillitis (immunohistochemical study of CD68 polarisation and proinflammatory cytokines estimation).
Title: Impact of vitamin D in children with chronic tonsillitis (immunohistochemical study of CD68 polarisation and proinflammatory cytokines estimation).
CD47 and CD68 expression in breast cancer is associated with tumor-infiltrating lymphocytes, blood vessel invasion, detection mode, and prognosis.
Title: CD47 and CD68 expression in breast cancer is associated with tumor-infiltrating lymphocytes, blood vessel invasion, detection mode, and prognosis.
A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.
Title: A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.
Bone marrow expression of CD68/CD163 macrophages, IL-17 and FOXP3 cells in aplastic anemia and their relation to prognosis.
Title: Bone marrow expression of CD68/CD163 macrophages, IL-17 and FOXP3 cells in aplastic anemia and their relation to prognosis.
Progranulin-derived granulin E and lysosome membrane protein CD68 interact to reciprocally regulate their protein homeostasis.
Title: Progranulin-derived granulin E and lysosome membrane protein CD68 interact to reciprocally regulate their protein homeostasis.
BMP6 increases CD68 expression by up-regulating CTGF expression in human granulosa-lutein cells.
Title: BMP6 increases CD68 expression by up-regulating CTGF expression in human granulosa-lutein cells.

Submit: New GeneRIF Correction See all GeneRIFs (85)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH83558 (e-PCR)
- UniSTS:88581

PMC156606P1 (e-PCR)
- UniSTS:271408

PMC296995P1 (e-PCR)
- UniSTS:272451

RH11637 (e-PCR)
- UniSTS:84642

SHGC-31951 (e-PCR)
- UniSTS:27312

PMC136595P1 (e-PCR)
- UniSTS:270798

STS-R55342 (e-PCR)
- UniSTS:71124

WI-22031 (e-PCR)
- UniSTS:47606

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to lipopolysaccharide	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to nutrient levels	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to oxidised low-density lipoprotein particle stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of protein localization to organelle	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response to antigenic stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of dendritic cell antigen processing and presentation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in azurophil granule membrane	TAS Traceable Author Statement more info
is_active_in late endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: macrosialin

Names: CD68 antigen; macrophage antigen CD68; scavenger receptor class D, member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001040059.2 → NP_001035148.1 macrosialin isoform B precursor

See identical proteins and their annotated locations for NP_001035148.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform B), compared to isoform A.

Source sequence(s)

AW294871, BC015557, BX438711, DB187273

Consensus CDS

CCDS58512.1

UniProtKB/Swiss-Prot

P34810

Related

ENSP00000369867.6, ENST00000380498.10

Conserved Domains (1) summary

pfam01299
Location:58 → 292

Lamp; Lysosome-associated membrane glycoprotein (Lamp)
NM_001251.3 → NP_001242.2 macrosialin isoform A precursor

See identical proteins and their annotated locations for NP_001242.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A).

Source sequence(s)

AW294871, BC015557

Consensus CDS

CCDS11114.1

UniProtKB/Swiss-Prot

B4DVT4, P34810, Q53HR6, Q53XI3, Q96BI7

UniProtKB/TrEMBL

B4DNT7

Related

ENSP00000250092.6, ENST00000250092.11

Conserved Domains (1) summary

pfam01299
Location:85 → 319

Lamp; Lysosome-associated membrane glycoprotein (Lamp)