Human Gene CD164 (uc003pte.3) Description and Page Index
  Description: Homo sapiens CD164 molecule, sialomucin (CD164), transcript variant 1, mRNA.
RefSeq Summary (NM_006016): This gene encodes a transmembrane sialomucin and cell adhesion molecule that regulates the proliferation, adhesion and migration of hematopoietic progenitor cells. The encoded protein also interacts with the C-X-C chemokine receptor type 4 and may regulate muscle development. Elevated expression of this gene has been observed in human patients with Sezary syndrome, a type of blood cancer, and a mutation in this gene may be associated with impaired hearing. [provided by RefSeq, Oct 2016].
Transcript (Including UTRs)
   Position: hg19 chr6:109,687,717-109,703,762 Size: 16,046 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr6:109,690,054-109,703,581 Size: 13,528 Coding Exon Count: 6 

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 (chr6:109,687,717-109,703,762)mRNA (may differ from genome)Protein (197 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Sialomucin core protein 24; Short=MUC-24; AltName: Full=Endolyn; AltName: Full=Multi-glycosylated core protein 24; Short=MGC-24; Short=MGC-24v; AltName: CD_antigen=CD164; Flags: Precursor;
FUNCTION: Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migration of umbilical cord blood CD133+ cells and this is mediated through the CXCL12/CXCR4 axis. May play an important role in prostate cancer metastasis and the infiltration of bone marrow by cancer cells. Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes (By similarity).
SUBUNIT: Homodimer (isoform 4). Interacts with CXCR4.
SUBCELLULAR LOCATION: Lysosome membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 2: Secreted (Potential).
TISSUE SPECIFICITY: Isoform 1 and isoform 3 are expressed in hematopoietic and non-hematopoietic tissues. Isoform 1 is expressed by prostate cancer tumors and prostate cancer cell lines. The expression is greater in bone metastases than in primary tumors. Expression in osseous metastasis is greater than that in soft tissue metastasis. Isoform 2 is expressed in the small intestine, colon, lung, thyroid and in colorectal and pancreatic adenocarcinoma. Isoform 4 is expressed by both hematopoietic progenitor cells and bone marrow stromal cells.
INDUCTION: Up-regulated by CXCL12 in prostate cancer cell lines.
PTM: Highly N- and O-glycosylated; contains sialic acid.
PTM: The motif Ser-Gly may serve as the site of attachment of a glycosaminoglycan side chain.
SIMILARITY: Belongs to the CD164 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CD164
CDC HuGE Published Literature: CD164
Positive Disease Associations: height , mean corpuscular volume
Related Studies:
  1. height
    Gudbjartsson ,et al. 2008, Many sequence variants affecting diversity of adult human height, Nature genetics 2008 40- 5 : 609-15. [PubMed 18391951]
  2. mean corpuscular volume
    Ganesh ,et al. 2009, Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium, Nature genetics 2009 41- 11 : 1191-8. [PubMed 19862010]

-  MalaCards Disease Associations
  MalaCards Gene Search: CD164
Diseases sorted by gene-association score: deafness, autosomal dominant 66* (987), autosomal dominant non-syndromic sensorineural deafness type dfna* (69), pollen allergy (24), prostate cancer (3), sezary's disease (1)
* = 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: 110.99 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 2879.58 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 -81.20181-0.449 Picture PostScript Text
3' UTR -563.752337-0.241 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
IPR007947 - CD164_MGC24

Pfam Domains:
PF05283 - Multi-glycosylated core protein 24 (MGC-24), sialomucin

ModBase Predicted Comparative 3D Structure on Q04900
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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006955 immune response
GO:0007155 cell adhesion
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0007162 negative regulation of cell adhesion
GO:0007165 signal transduction
GO:0007275 multicellular organism development
GO:0007517 muscle organ development
GO:0008285 negative regulation of cell proliferation
GO:0030097 hemopoiesis

Cellular Component:
GO:0005576 extracellular region
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane

-  Descriptions from all associated GenBank mRNAs
  BC040317 - Homo sapiens CD164 molecule, sialomucin, mRNA (cDNA clone IMAGE:4838910).
D14043 - Homo sapiens mRNA for MGC-24, complete cds.
E07890 - cDNA encoding core protein of human glycoprotein 10.
AF299341 - Homo sapiens CD164 mRNA, complete cds, alternatively spliced.
AF299342 - Homo sapiens CD164 isoform delta 5 mRNA, complete cds, alternatively spliced.
AF299343 - Homo sapiens CD164 isoform delta 4 mRNA, complete cds, alternatively spliced.
JD164526 - Sequence 145550 from Patent EP1572962.
JD309798 - Sequence 290822 from Patent EP1572962.
JD113479 - Sequence 94503 from Patent EP1572962.
JD537532 - Sequence 518556 from Patent EP1572962.
JD409891 - Sequence 390915 from Patent EP1572962.
BC037914 - Homo sapiens CD164 molecule, sialomucin, mRNA (cDNA clone IMAGE:5277669).
AK301692 - Homo sapiens cDNA FLJ51126 complete cds, highly similar to mucin core protein 24 precursor.
JD235291 - Sequence 216315 from Patent EP1572962.
AK307193 - Homo sapiens cDNA, FLJ97141.
JD237722 - Sequence 218746 from Patent EP1572962.
JD184589 - Sequence 165613 from Patent EP1572962.
JD239318 - Sequence 220342 from Patent EP1572962.
JD431275 - Sequence 412299 from Patent EP1572962.
AK298684 - Homo sapiens cDNA FLJ51039 complete cds, highly similar to mucin core protein 24 precursor.
JD306800 - Sequence 287824 from Patent EP1572962.
JD440096 - Sequence 421120 from Patent EP1572962.
AK303525 - Homo sapiens cDNA FLJ51175 complete cds, highly similar to Homo sapiens CD164 antigen, sialomucin (CD164), mRNA.
AK315908 - Homo sapiens cDNA, FLJ78807 complete cds, highly similar to Homo sapiens CD164 antigen, sialomucin (CD164), mRNA.
AK310854 - Homo sapiens cDNA, FLJ17896.
JD369723 - Sequence 350747 from Patent EP1572962.
JD361678 - Sequence 342702 from Patent EP1572962.
JD229493 - Sequence 210517 from Patent EP1572962.
JD021944 - Sequence 2968 from Patent EP1572962.
JD118579 - Sequence 99603 from Patent EP1572962.
JD252035 - Sequence 233059 from Patent EP1572962.
JD024769 - Sequence 5793 from Patent EP1572962.
JD028141 - Sequence 9165 from Patent EP1572962.
AK308664 - Homo sapiens cDNA, FLJ98705.
AF106518 - Homo sapiens sialomucin CD164 mRNA, complete cds.
AF263279 - Homo sapiens CD164 mRNA, complete cds.
FJ200494 - Homo sapiens CD164 variant C (CD164) mRNA, complete cds.
AK312357 - Homo sapiens cDNA, FLJ92676, Homo sapiens CD164 antigen, sialomucin (CD164), mRNA.
DQ891034 - Synthetic construct clone IMAGE:100003664; FLH168705.01X; RZPDo839C0494D CD164 molecule, sialomucin (CD164) gene, encodes complete protein.
DQ894213 - Synthetic construct Homo sapiens clone IMAGE:100008673; FLH168701.01L; RZPDo839C0493D CD164 molecule, sialomucin (CD164) gene, encodes complete protein.
BC011522 - Homo sapiens CD164 molecule, sialomucin, mRNA (cDNA clone MGC:9546 IMAGE:3854912), complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04142 - Lysosome

-  Other Names for This Gene
  Alternate Gene Symbols: B4DQ85, E1P5E7, E1P5E8, E1P5E9, MUC24_HUMAN, NM_006016, NP_006007, O95413, Q04900, Q5JSU6, Q9BPV0, Q9NR26
UCSC ID: uc003pte.3
RefSeq Accession: NM_006016
Protein: Q04900 (aka MUC24_HUMAN or MG24_HUMAN)
CCDS: CCDS5073.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_006016.4
exon count: 6CDS single in 3' UTR: no RNA size: 3128
ORF size: 594CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1388.00frame shift in genome: no % Coverage: 99.49
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 2408# 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.