Gene Facts External Data Attribution

HGNC Symbol
CD164 (HGNC:1632) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
CD164 molecule
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
MUC-24, MGC-24, DFNA66, MGC-24v
%HI
73.38(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.49(Read more about gnomAD pLI score)
LOEUF
0.61(Read more about gnomAD LOEUF score)
Cytoband
6q21
Genomic Coordinates
GRCh37/hg19: chr6:109687717-109703670 NCBI Ensembl UCSC
GRCh38/hg38: chr6:109366514-109382467 NCBI Ensembl UCSC
MANE Select Transcript
NM_006016.6 ENST00000310786.10 (Read more about MANE Select)
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 mig... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22445
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)