ENSG00000166558
Homo sapiens | |
Features
| Gene ID: | ENSG00000166558 | | | | | Biological name : | SLC38A8 | | | | | Synonyms : | A6NNN8 / SLC38A8 / solute carrier family 38 member 8 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 16 | | Strand: | -1 | | Band: | q23.3 | | Gene start: | 84009667 | | Gene end: | 84042636 | | | | | Corresponding Affymetrix probe sets: | | | | | | Cross references: | Ensembl peptide - ENSP00000299709
Ensembl peptide - ENSP00000457737
Ensembl peptide - ENSP00000455085
NCBI entrez gene - 146167
See in Manteia.
OMIM - 615585
RefSeq - NM_001080442
RefSeq - XM_017022946
RefSeq Peptide - NP_001073911
swissprot - H3BUP5
swissprot - H3BP02
swissprot - A6NNN8
Ensembl - ENSG00000166558
| | | | | Related genetic diseases (OMIM): | 609218 - Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 |
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)
Protein motifs (from Interpro)
| IPR013057 | Amino acid transporter, transmembrane domain |
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:0000505 | Impaired vision | |
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| | HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| | HP:0000627 | Posterior embryotoxon | |
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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:0001137 | Alternating esotropia | |
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| | HP:0001492 | Axenfeld anomaly | |
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| | HP:0007663 | Decreased central vision | |
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| | HP:0007750 | Foveal hypoplasia | |
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Interacting proteins (from Reactome)
No match
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