CD164 |
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)