MARVELD2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MARVELD2 (HGNC:26401) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- MARVEL domain containing 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MRVLDC2, DFNB49
- Alias symbols
- FLJ30532, TRIC
- %HI
- 51.8(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.99(Read more about gnomAD LOEUF score)
- Cytoband
- 5q13.2
- Genomic Coordinates
-
GRCh37/hg19: chr5:68710943-68740157 NCBI Ensembl UCSC GRCh38/hg38: chr5:69415116-69444330 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001038603.3 ENST00000325631.10 (Read more about MANE Select)
- Function
- Plays a role in the formation of tricellular tight junctions and of epithelial barriers (By similarity). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti (PubMed:17186462). {ECO:0000250|UniProtKB:Q3UZP0, ECO:0000269|PubMed:17186462}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-33397
ClinGen Curation ID:
CCID:007436
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- autosomal recessive nonsyndromic hearing loss 49 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000005.9)
(NC_000005.10)