ENSG00000148655
Homo sapiens | |
Features
| Gene ID: | ENSG00000148655 | | | | | Biological name : | LRMDA | | | | | Synonyms : | leucine rich melanocyte differentiation associated / LRMDA / Q9H2I8 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 10 | | Strand: | 1 | | Band: | q22.2 | | Gene start: | 75431453 | | Gene end: | 76560167 | | | | | Corresponding Affymetrix probe sets: | 223703_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000480240
Ensembl peptide - ENSP00000482991
Ensembl peptide - ENSP00000361577
Ensembl peptide - ENSP00000472558
NCBI entrez gene - 83938
See in Manteia.
OMIM - 614537
RefSeq - XM_017016761
RefSeq - NM_001305581
RefSeq - NM_032024
RefSeq - XM_011540256
RefSeq - XM_011540257
RefSeq - XM_017016759
RefSeq - XM_017016760
RefSeq Peptide - NP_001292510
RefSeq Peptide - NP_114413
swissprot - A0A087WZZ7
swissprot - M0R2H0
swissprot - Q9H2I8
swissprot - A0A087WWI0
Ensembl - ENSG00000148655
| | | | | Related genetic diseases (OMIM): | 615179 - Albinism, oculocutaneous, type VII, 615179 |
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:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [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:0001022 | Albinism | |
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Interacting proteins (from Reactome)
No match
0 s.
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