ENSG00000105370
Homo sapiens | |
Features
| Gene ID: | ENSG00000105370 | | | | | Biological name : | LIM2 | | | | | Synonyms : | lens intrinsic membrane protein 2 / LIM2 / P55344 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 19 | | Strand: | -1 | | Band: | q13.41 | | Gene start: | 51379909 | | Gene end: | 51387960 | | | | | Corresponding Affymetrix probe sets: | 220519_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000221973
Ensembl peptide - ENSP00000472090
NCBI entrez gene - 3982
See in Manteia.
OMIM - 154045
RefSeq - NM_001161748
RefSeq - NM_030657
RefSeq Peptide - NP_001155220
RefSeq Peptide - NP_085915
swissprot - P55344
Ensembl - ENSG00000105370
| | | | | Related genetic diseases (OMIM): | 615277 - Cataract 19, multiple types, 615277 |
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)
No match
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] |
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| | HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| | HP:0007780 | Cataracts, cortical pulverulent, juvenile-onset | |
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Interacting proteins (from Reactome)
No match
0 s.
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