• Gene id: 968

Gene Summary

• Gene Symbol: CD68   Gene   UCSC   Ensembl
• Aliases: GP110, LAMP4, SCARD1
• Gene name: CD68 molecule
• Alternate names: macrosialin, CD68 antigen, macrophage antigen CD68, scavenger receptor class D, member 1,
• Gene location: 17p13.1 (7579486: 7582110)     Exons: 6     NC_000017.11
• Gene summary(Entrez): 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 lysosome
• OMIM: 153634

SNPs

rs1052133

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.9757089C>G
NC_000003.12   g.9757089C>T
NC_000003.11   g.9798773C>G
NC_000003.11   g.9798773C>T
NG_012106.1   g.12146C>G
NG_012106.1   g.12146C>T
NM_002542.5   c.977C>G
NM_002542.5   c.977C>T
NM_016819.3   c.*246C>G
NM_016819.3   c.*246C>T
NM_016820.3   c.

Protein Summary

• Protein general information: P34810  
  • Name: Macrosialin (Gp110) (CD antigen CD68)
  • Length: 354  
  • Mass: 37,408
• Sequence:

  MRLAVLFSGALLGLLAAQGTGNDCPHKKSATLLPSFTVTPTVTESTGTTSHRTTKSHKTTTHRTTTTGTTSHGPT
  TATHNPTTTSHGNVTVHPTSNSTATSQGPSTATHSPATTSHGNATVHPTSNSTATSPGFTSSAHPEPPPPSPSPS
  PTSKETIGDYTWTNGSQPCVHLQAQIQIRVMYTTQGGGEAWGISVLNPNKTKVQGSCEGAHPHLLLSFPYGHLSF
  GFMQDLQQKVVYLSYMAVEYNVSFPHAAQWTFSAQNASLRDLQAPLGQSFSCSNSSIILSPAVHLDLLSLRLQAA
  QLPHTGVFGQSFSCPSDRSILLPLIIGLILLGLLALVLIAFCIIRRRPSAYQAL

• Structural information:
  • Interpro: IPR018134  IPR002000  
  • Prosite: PS00311 PS51407
  • STRING: ENSP00000250092
• Other Databases: GeneCards:  CD68  Malacards:  CD68

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Azoospermia	MIK: 24895614
Male factor infertility	MIK: 12137866
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 24895614
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 12137866

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24895614	Azoospermia				Male infertility
12137866	Male infertility			33 (10 infertile men with germ cell arrest, 8 Sertoli cell syndrome, 7 mixed atrophy, 8 idiopathic infertility showing normal spermatogenesis)	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq