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Aliases for CD164 Gene

Aliases for CD164 Gene

  • CD164 Molecule 2 3 5
  • Multi-Glycosylated Core Protein 24 3 4
  • CD164 Antigen, Sialomucin 2 3
  • Endolyn 3 4
  • MGC-24v 3 4
  • MGC-24 3 4
  • MUC-24 3 4
  • Deafness, Autosomal Dominant 66 2
  • CD164 Molecule, Sialomucin 2
  • Sialomucin Core Protein 24 3
  • CD164 Antigen 4
  • DFNA66 3

External Ids for CD164 Gene

Previous GeneCards Identifiers for CD164 Gene

  • GC06M109523
  • GC06M109710
  • GC06M109733
  • GC06M109794
  • GC06M109687
  • GC06M107253

Summaries for CD164 Gene

Entrez Gene Summary for CD164 Gene

  • 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]

GeneCards Summary for CD164 Gene

CD164 (CD164 Molecule) is a Protein Coding gene. Diseases associated with CD164 include Deafness, Autosomal Dominant 66 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Lysosome. An important paralog of this gene is CD164L2.

UniProtKB/Swiss-Prot for CD164 Gene

  • 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).

Gene Wiki entry for CD164 Gene

Additional gene information for CD164 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD164 Gene

Genomics for CD164 Gene

GeneHancer (GH) Regulatory Elements for CD164 Gene

Promoters and enhancers for CD164 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I109379 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.2 205 6.3 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 SSRP1 ENSG00000260273 CD164 ZBTB24 SMPD2 MICAL1 AK9 PPIL6 PTCHD3P3 ENSG00000233908 CCDC162P
GH06I109303 Enhancer 1.4 Ensembl ENCODE dbSUPER 31.3 +78.0 78026 3 PKNOX1 SMAD1 ARNT IRF4 ZNF766 E2F8 JUNB REST ZNF592 MEF2D RNY3P11 GC06P109306 CD164 CCDC162P SMPD2 PTCHD3P3
GH06I109316 Enhancer 1.2 Ensembl ENCODE dbSUPER 31.4 +64.0 63976 4 FOXA2 ARID4B RAD21 YY1 MIXL1 RXRA SP5 REST NR2F2 KAT8 CD164 CCDC162P PTCHD3P3 ENSG00000233908 PPIL6 SMPD2 RPL7P28 RNY3P11
GH06I108555 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 +820.9 820897 11.9 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 ZNF548 SP3 NFYC FOXO3 PIR59886 ZBTB24 SMPD2 CD164 RNU6-653P ENSG00000271730 SEC63 LINC00222 SESN1
GH06I110178 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 11.1 -797.9 -797933 4.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 WASF1 CDC40 ZBTB24 CD164 SMPD2 CNN2P9 FIG4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CD164 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CD164 gene promoter:

Genomic Locations for CD164 Gene

Genomic Locations for CD164 Gene
chr6:109,366,514-109,382,559
(GRCh38/hg38)
Size:
16,046 bases
Orientation:
Minus strand
chr6:109,687,717-109,703,762
(GRCh37/hg19)

Genomic View for CD164 Gene

Genes around CD164 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD164 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD164 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD164 Gene

Proteins for CD164 Gene

  • Protein details for CD164 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04900-MUC24_HUMAN
    Recommended name:
    Sialomucin core protein 24
    Protein Accession:
    Q04900
    Secondary Accessions:
    • B4DQ85
    • E1P5E7
    • E1P5E8
    • E1P5E9
    • O95413
    • Q5JSU6
    • Q9BPV0
    • Q9NR26

    Protein attributes for CD164 Gene

    Size:
    197 amino acids
    Molecular mass:
    20917 Da
    Quaternary structure:
    • Homodimer (isoform 4). Interacts with CXCR4.

    Alternative splice isoforms for CD164 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD164 Gene

Post-translational modifications for CD164 Gene

  • Highly N- and O-glycosylated; contains sialic acid.
  • The motif Ser-Gly may serve as the site of attachment of a glycosaminoglycan side chain.
  • Glycosylation at Asn26, posLast=3232, posLast=4141, posLast=7272, posLast=7777, Asn94, Asn104, posLast=121121, posLast=142142, and posLast=146146

No data available for DME Specific Peptides for CD164 Gene

Domains & Families for CD164 Gene

Gene Families for CD164 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for CD164 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CD164 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q04900

UniProtKB/Swiss-Prot:

MUC24_HUMAN :
  • Belongs to the CD164 family.
Family:
  • Belongs to the CD164 family.
genes like me logo Genes that share domains with CD164: view

Function for CD164 Gene

Molecular function for CD164 Gene

GENATLAS Biochemistry:
cell differentiation antigen CD164,identigfied by monoclonal antibodies 103B2/9E10 and 105A5,expressed in CD34+ B cell precursors and in maturing erythroid cells,potent regulator of hematopoiesis
UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Induction:
Up-regulated by CXCL12 in prostate cancer cell lines.

Phenotypes From GWAS Catalog for CD164 Gene

Gene Ontology (GO) - Molecular Function for CD164 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17077324
genes like me logo Genes that share ontologies with CD164: view
genes like me logo Genes that share phenotypes with CD164: view

Human Phenotype Ontology for CD164 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CD164 Gene

miRTarBase miRNAs that target CD164

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CD164 Gene

Localization for CD164 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD164 Gene

Lysosome membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD164 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
endosome 5
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CD164 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005764 lysosome IDA,IEA 11027692
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA,IDA 11027692
GO:0005886 plasma membrane TAS,IDA 10491205
genes like me logo Genes that share ontologies with CD164: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD164 Gene

Pathways & Interactions for CD164 Gene

genes like me logo Genes that share pathways with CD164: view

Pathways by source for CD164 Gene

1 KEGG pathway for CD164 Gene

Gene Ontology (GO) - Biological Process for CD164 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response TAS 9763543
GO:0007155 cell adhesion IDA 10491205
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IDA 10491205
GO:0007162 negative regulation of cell adhesion NAS 10878358
GO:0007165 signal transduction TAS 9763543
genes like me logo Genes that share ontologies with CD164: view

No data available for SIGNOR curated interactions for CD164 Gene

Drugs & Compounds for CD164 Gene

No Compound Related Data Available

Transcripts for CD164 Gene

Unigene Clusters for CD164 Gene

CD164 molecule, sialomucin:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CD164 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b
SP1: - - - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - -
SP7: - -
SP8: - - -
SP9:

Relevant External Links for CD164 Gene

GeneLoc Exon Structure for
CD164
ECgene alternative splicing isoforms for
CD164

Expression for CD164 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CD164 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CD164 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CD164 Gene



Protein tissue co-expression partners for CD164 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CD164 Gene:

CD164

SOURCE GeneReport for Unigene cluster for CD164 Gene:

Hs.520313

mRNA Expression by UniProt/SwissProt for CD164 Gene:

Q04900-MUC24_HUMAN
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.

Evidence on tissue expression from TISSUES for CD164 Gene

  • Nervous system(4.9)
  • Blood(4.7)
  • Intestine(4.7)
  • Bone marrow(4.6)
  • Kidney(4.1)
  • Lung(3.8)
  • Skin(3.6)
  • Liver(3.1)
  • Pancreas(2.7)
  • Stomach(2.5)
  • Thyroid gland(2.3)
  • Gall bladder(2.1)
  • Spleen(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with CD164: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CD164 Gene

Orthologs for CD164 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD164 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD164 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CD164 33 34
  • 82.37 (n)
cow
(Bos Taurus)
Mammalia CD164 33 34
  • 79.86 (n)
mouse
(Mus musculus)
Mammalia Cd164 33 16 34
  • 77.01 (n)
rat
(Rattus norvegicus)
Mammalia Cd164 33
  • 74.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CD164 34
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CD164 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves CD164 34
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CD164 34
  • 81 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cd164 34
  • 41 (a)
OneToOne
Species where no ortholog for CD164 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CD164 Gene

ENSEMBL:
Gene Tree for CD164 (if available)
TreeFam:
Gene Tree for CD164 (if available)

Paralogs for CD164 Gene

Paralogs for CD164 Gene

(1) SIMAP similar genes for CD164 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for CD164 Gene

genes like me logo Genes that share paralogs with CD164: view

Variants for CD164 Gene

Sequence variations from dbSNP and Humsavar for CD164 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs876661402 pathogenic, Deafness, autosomal dominant 66 109,368,871(-) G/A coding_sequence_variant, intron_variant, stop_gained
rs145357332 uncertain-significance, not specified 109,379,644(-) T/C coding_sequence_variant, missense_variant
rs1000223842 -- 109,374,232(-) C/A intron_variant
rs1000253734 -- 109,378,182(-) T/G intron_variant
rs1000262270 -- 109,381,730(-) C/T intron_variant

Variation tolerance for CD164 Gene

Residual Variation Intolerance Score: 46.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 17.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD164 Gene

Human Gene Mutation Database (HGMD)
CD164
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD164

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CD164 Gene

Disorders for CD164 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CD164 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 66
  • dfna66
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
pollen allergy
  • hay fever
prostate cancer
  • prostate cancer, susceptibility to
sezary's disease
  • sezary disease
- elite association - COSMIC cancer census association via MalaCards
Search CD164 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MUC24_HUMAN
  • Deafness, autosomal dominant, 66 (DFNA66) [MIM:616969]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:26197441}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CD164

genes like me logo Genes that share disorders with CD164: view

No data available for Genatlas for CD164 Gene

Publications for CD164 Gene

  1. The sialomucin CD164 (MGC-24v) is an adhesive glycoprotein expressed by human hematopoietic progenitors and bone marrow stromal cells that serves as a potent negative regulator of hematopoiesis. (PMID: 9763543) Zannettino AC … Simmons PJ (Blood 1998) 2 3 4 22 58
  2. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. (PMID: 26197441) Nyegaard M … Børglum AD (PLoS genetics 2015) 2 3 4 58
  3. Endolyn (CD164) modulates the CXCL12-mediated migration of umbilical cord blood CD133+ cells. (PMID: 17077324) Forde S … Watt SM (Blood 2007) 3 4 22 58
  4. The role of sialomucin CD164 (MGC-24v or endolyn) in prostate cancer metastasis. (PMID: 16859559) Havens AM … Taichman RS (BMC cancer 2006) 3 4 22 58
  5. Relationship between novel isoforms, functionally important domains, and subcellular distribution of CD164/endolyn. (PMID: 11027692) Chan JY … Watt SM (The Journal of biological chemistry 2001) 3 4 22 58

Products for CD164 Gene

Sources for CD164 Gene

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