ENSG00000214113
Homo sapiens | |
Features
| Gene ID: | ENSG00000214113 | | | | | Biological name : | LYRM4 | | | | | Synonyms : | LYRM4 / LYR motif containing 4 / Q9HD34 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 6 | | Strand: | -1 | | Band: | p25.1 | | Gene start: | 5102593 | | Gene end: | 5260939 | | | | | Corresponding Affymetrix probe sets: | 218561_s_at (Human Genome U133 Plus 2.0 Array) 222672_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000418787
Ensembl peptide - ENSP00000417885
Ensembl peptide - ENSP00000418321
Ensembl peptide - ENSP00000419928
Ensembl peptide - ENSP00000443900
Ensembl peptide - ENSP00000420026
NCBI entrez gene - 57128
See in Manteia.
OMIM - 613311
RefSeq - NM_001318782
RefSeq - NM_001164840
RefSeq - NM_001164841
RefSeq - NM_020408
RefSeq Peptide - NP_001158312
RefSeq Peptide - NP_065141
RefSeq Peptide - NP_001305711
RefSeq Peptide - NP_001158313
swissprot - Q9HD34
swissprot - C9J799
swissprot - C9JRX8
swissprot - C9JY28
swissprot - F5H189
swissprot - H7C4Q5
Ensembl - ENSG00000214113
| | | | | Related genetic diseases (OMIM): | 615595 - ?Combined oxidative phosphorylation deficiency 19, 615595 |
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)
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:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| | HP:0001397 | Hepatic steatosis | |
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| | HP:0001508 | Failure to thrive | |
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| | HP:0002098 | Respiratory distress | |
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| | HP:0003128 | Lactic acidemia | "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson] |
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| | HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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Interacting proteins (from Reactome)
0 s.
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