C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Usher syndrome 2A (autosomal recessive, mild)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000026609 Ush2a 10090 + 1:188262023-188965041 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000060479 Ush2a-001 188263034-188965041 protein_coding
  ENSMUST00000124358 Ush2a-002 188262035-188452401 retained_intron
  ENSMUST00000127077 Ush2a-005 188953744-188964965 protein_coding
  ENSMUST00000142159 Ush2a-004 188537807-188678687 retained_intron
  ENSMUST00000142189 Ush2a-003 188262023-188357520 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastHeartKidneyLiverLungOvaryPlacentaENSMUST00000060479ENSMUST00000124358ENSMUST00000127077ENSMUST00000142159ENSMUST00000142189
Transcript ID Adipose Adrenal Bladder Brain Breast Heart Kidney Liver Lung Ovary Placenta
ENSMUST00000060479 N/A 0.008±0.01 N/A 0.007±0.00 0.002±0.00 N/A 0.004±0.00 0.005±0.00 0.010±0.00 0.036±0.02 0.012±0.01
ENSMUST00000124358 0.005±0.00 0.017±0.00 N/A N/A N/A 0.005±0.00 N/A N/A N/A 0.040±0.01 N/A
ENSMUST00000127077 N/A N/A 0.116±0.00 0.028±0.00 N/A N/A N/A 0.019±0.01 N/A N/A 0.201±0.10
ENSMUST00000142159 N/A N/A N/A N/A N/A 0.012±0.00 N/A 0.008±0.00 N/A 0.051±0.01 N/A
ENSMUST00000142189 N/A 0.123±0.02 N/A N/A N/A 0.023±0.00 N/A N/A N/A 0.121±0.00 N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007JY CIL_0007JY_0002 UCNEbase 1:186701249-188943182
CIL_0008DN CIL_0008DN_0002 VISTA 1:187818946-188419476

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001917 IDA photoreceptor inner segment
GO:0002141 NAS stereocilia ankle link
GO:0002142 IDA stereocilia ankle link complex
GO:0005515 IPI protein binding
GO:0005518 IDA collagen binding
GO:0005604 IDA basement membrane
GO:0005737 IEA cytoplasm
GO:0007601 IEA visual perception
GO:0007605 IEA sensory perception of sound
GO:0016021 IEA integral component of membrane
GO:0016324 IDA apical plasma membrane
GO:0017022 IPI myosin binding
GO:0032391 IDA photoreceptor connecting cilium
GO:0032421 IDA stereocilium bundle
GO:0035315 IEP hair cell differentiation
GO:0045494 IMP photoreceptor cell maintenance
GO:0048496 IEA maintenance of organ identity
GO:0050896 IEA response to stimulus
GO:0050953 IEA sensory perception of light stimulus
GO:0060113 IMP inner ear receptor cell differentiation
GO:0060171 IDA stereocilium membrane
GO:1990075 IDA periciliary membrane compartment

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000029482 ush2a Usher syndrome 2A (autosomal recessive, mild) protein_coding Danio_rerio
ENSG00000042781 USH2A Usher syndrome 2A (autosomal recessive, mild) protein_coding Homo_sapiens

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