ENSG00000183423
Homo sapiens | |
Features
| Gene ID: | ENSG00000183423 | | | | | Biological name : | LRIT3 | | | | | Synonyms : | leucine rich repeat, Ig-like and transmembrane domains 3 / LRIT3 / Q3SXY7 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 4 | | Strand: | 1 | | Band: | q25 | | Gene start: | 109848202 | | Gene end: | 109872315 | | | | | Corresponding Affymetrix probe sets: | | | | | | Cross references: | Ensembl peptide - ENSP00000328222
Ensembl peptide - ENSP00000469759
NCBI entrez gene - 345193
See in Manteia.
OMIM - 615004
RefSeq - NM_198506
RefSeq - XM_017008167
RefSeq Peptide - NP_940908
swissprot - A0A0A0MR64
swissprot - Q3SXY7
Ensembl - ENSG00000183423
| | | | | Related genetic diseases (OMIM): | 615058 - Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
| LRIT1 / Q9P2V4 / leucine rich repeat, Ig-like and transmembrane domains 1 | ENSG00000148602 | 32 | | LRIT2 / A6NDA9 / leucine rich repeat, Ig-like and transmembrane domains 2 | ENSG00000204033 | 22 | | ISLR2 / Q6UXK2 / immunoglobulin superfamily containing leucine rich repeat 2 | ENSG00000167178 | 20 | | ISLR / O14498 / immunoglobulin superfamily containing leucine rich repeat | ENSG00000129009 | 14 |
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
| | HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
| | HP:0000545 | Myopia | |
Show
| | HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
| | HP:0000662 | Night blindness | |
Show
| | HP:0007642 | Congenital stationary night blindness | |
Show
| | HP:0007663 | Decreased central vision | |
Show
| | HP:0007766 | Hypoplastic optic disks | |
Show
| | HP:0008002 | Macular pigmentary changes | |
Show
| | HP:0011003 | Severe Myopia | |
Show
|
Interacting proteins (from Reactome)
No match
0 s.
|
