Human Gene C8G (uc004cka.2) Description and Page Index
  Description: Homo sapiens complement component 8, gamma polypeptide (C8G), mRNA.
RefSeq Summary (NM_000606): The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.154141.1, SRR5189664.119234.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000371634.7/ ENSP00000360697.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr9:139,839,698-139,841,426 Size: 1,729 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr9:139,839,773-139,841,233 Size: 1,461 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:139,839,698-139,841,426)mRNA (may differ from genome)Protein (202 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CO8G_HUMAN
DESCRIPTION: RecName: Full=Complement component C8 gamma chain; Flags: Precursor;
FUNCTION: C8 is a constituent of the membrane attack complex. C8 binds to the C5B-7 complex, forming the C5B-8 complex. C5-B8 binds C9 and acts as a catalyst in the polymerization of C9. The gamma subunit seems to be able to bind retinol.
SUBUNIT: C8 is composed of three chains: alpha, beta and gamma. The alpha and gamma chains are disulfide bonded.
SUBCELLULAR LOCATION: Secreted.
SIMILARITY: Belongs to the calycin superfamily. Lipocalin family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): C8G
CDC HuGE Published Literature: C8G

-  MalaCards Disease Associations
  MalaCards Gene Search: C8G
Diseases sorted by gene-association score: immunodeficiency due to a late component of complement deficiency* (350), acute salpingo-oophoritis (8), salpingo-oophoritis (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 222.14 RPKM in Liver
Total median expression: 255.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.5075-0.287 Picture PostScript Text
3' UTR -82.20193-0.426 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002968 - A1-microglobln
IPR012674 - Calycin
IPR011038 - Calycin-like
IPR002345 - Lipocalin
IPR022272 - Lipocalin_CS
IPR000566 - Lipocln_cytosolic_FA-bd_dom

Pfam Domains:
PF00061 - Lipocalin / cytosolic fatty-acid binding protein family

SCOP Domains:
50814 - Lipocalins

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1IW2
- X-ray MuPIT

1LF7
- X-ray MuPIT

2OVA
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
2OVD - X-ray MuPIT 2OVE - X-ray MuPIT 2QOS - X-ray MuPIT
2RD7 - X-ray 3OJY - X-ray


ModBase Predicted Comparative 3D Structure on P07360
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
      
      
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001848 complement binding
GO:0019841 retinol binding
GO:0036094 small molecule binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0002376 immune system process
GO:0006957 complement activation, alternative pathway
GO:0006958 complement activation, classical pathway
GO:0019835 cytolysis
GO:0030449 regulation of complement activation
GO:0045087 innate immune response

Cellular Component:
GO:0005576 extracellular region
GO:0005579 membrane attack complex
GO:0005615 extracellular space
GO:0070062 extracellular exosome
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  M17999 - Human complement component C8-gamma mRNA, complete cds.
X06465 - Human mRNA for complement protein C8 gamma-chain.
JD295078 - Sequence 276102 from Patent EP1572962.
JD279227 - Sequence 260251 from Patent EP1572962.
BC113624 - Homo sapiens complement component 8, gamma polypeptide, mRNA (cDNA clone MGC:142184 IMAGE:8322676), complete cds.
BC113626 - Homo sapiens complement component 8, gamma polypeptide, mRNA (cDNA clone MGC:142186 IMAGE:8322678), complete cds.
M17263 - Human complement protein C8 gamma subunit mRNA, complete cds.
JD269449 - Sequence 250473 from Patent EP1572962.
JD128585 - Sequence 109609 from Patent EP1572962.
HQ258743 - Synthetic construct Homo sapiens clone IMAGE:100072773 complement component 8, gamma polypeptide (C8G) gene, encodes complete protein.
KJ896522 - Synthetic construct Homo sapiens clone ccsbBroadEn_05916 C8G gene, encodes complete protein.
KJ896523 - Synthetic construct Homo sapiens clone ccsbBroadEn_05917 C8G gene, encodes complete protein.
AB590759 - Synthetic construct DNA, clone: pFN21AE1695, Homo sapiens C8G gene for complement component 8, gamma polypeptide, without stop codon, in Flexi system.
JD157746 - Sequence 138770 from Patent EP1572962.
JD178541 - Sequence 159565 from Patent EP1572962.
JD398301 - Sequence 379325 from Patent EP1572962.
JD520804 - Sequence 501828 from Patent EP1572962.
JD143673 - Sequence 124697 from Patent EP1572962.
JD040907 - Sequence 21931 from Patent EP1572962.
JD331955 - Sequence 312979 from Patent EP1572962.
JD134884 - Sequence 115908 from Patent EP1572962.
JD200219 - Sequence 181243 from Patent EP1572962.
JD387052 - Sequence 368076 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04610 - Complement and coagulation cascades
hsa05020 - Prion diseases
hsa05322 - Systemic lupus erythematosus

Reactome (by CSHL, EBI, and GO)

Protein P07360 (Reactome details) participates in the following event(s):

R-HSA-173723 C8 binds C5b:C6:C7
R-HSA-2530429 Formation of soluble VTN:C5b-C9
R-HSA-173725 C9 binds C5b:C6:C7:C8
R-HSA-2530445 CD59 inhibits MAC formation
R-HSA-8852580 Clusterin binds C5b-C7, C8, C9
R-HSA-166665 Terminal pathway of complement
R-HSA-977606 Regulation of Complement cascade
R-HSA-166658 Complement cascade
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: CO8G_HUMAN, NM_000606, NP_000597, P07360, Q14CT8, Q14CU0, Q5SQ07
UCSC ID: uc004cka.2
RefSeq Accession: NM_000606
Protein: P07360 (aka CO8G_HUMAN)
CCDS: CCDS7017.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000606.2
exon count: 7CDS single in 3' UTR: no RNA size: 888
ORF size: 609CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1210.00frame shift in genome: no % Coverage: 98.76
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.