JAM3 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- JAM3 (HGNC:15532) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- junctional adhesion molecule 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- JAM-C, JAMC, JAM-3
- %HI
- 47.11(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.84(Read more about gnomAD LOEUF score)
- Cytoband
- 11q25
- Genomic Coordinates
-
GRCh37/hg19: chr11:133938967-134021896 NCBI Ensembl UCSC GRCh38/hg38: chr11:134069072-134152001 NCBI Ensembl UCSC - MANE Select Transcript
- NM_032801.5 ENST00000299106.9 (Read more about MANE Select)
- Function
- Junctional adhesion protein that mediates heterotypic cell- cell interactions with its cognate receptor JAM2 to regulate different cellular processes (PubMed:11590146, PubMed:11823489). Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow. At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3 (PubMed:11590146, PubMed:24357068). Plays a central role in leukocy... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-33482
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
06/11/2015
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- porencephaly-microcephaly-bilateral congenital cataract syndrome Monarch
HI Evidence Comments:
Variants in JAM3 have been identified in individuals with hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC), an autosomal recessive condition.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)