ENSG00000213614
Homo sapiens | |
Features
| Gene ID: | ENSG00000213614 | | | | | Biological name : | HEXA | | | | | Synonyms : | HEXA / hexosaminidase subunit alpha / P06865 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 15 | | Strand: | -1 | | Band: | q23 | | Gene start: | 72340919 | | Gene end: | 72376476 | | | | | Corresponding Affymetrix probe sets: | 201765_s_at (Human Genome U133 Plus 2.0 Array) 215155_at (Human Genome U133 Plus 2.0 Array) 243511_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000457125
Ensembl peptide - ENSP00000478217
Ensembl peptide - ENSP00000458128
Ensembl peptide - ENSP00000457521
Ensembl peptide - ENSP00000268097
Ensembl peptide - ENSP00000455114
Ensembl peptide - ENSP00000455545
Ensembl peptide - ENSP00000456346
Ensembl peptide - ENSP00000456489
Ensembl peptide - ENSP00000457037
NCBI entrez gene - 3073
See in Manteia.
OMIM - 606869
RefSeq - NM_000520
RefSeq - NM_001318825
RefSeq Peptide - NP_000511
RefSeq Peptide - NP_001305754
swissprot - H3BS10
swissprot - H3BT62
swissprot - H3BTD4
swissprot - H3BU85
swissprot - H3BVH8
swissprot - A0A0S2Z3W3
swissprot - P06865
swissprot - A0A087WTY2
swissprot - H3BP20
swissprot - H3BQ04
swissprot - H3BRP6
Ensembl - ENSG00000213614
| | | | | Related genetic diseases (OMIM): | 272800 - GM2-gangliosidosis, several forms, 272800 |
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)
| IPR015883 | Glycoside hydrolase family 20, catalytic domain | | IPR017853 | Glycoside hydrolase superfamily | | IPR025705 | Beta-hexosaminidase | | IPR029018 | Beta-hexosaminidase-like, domain 2 | | IPR029019 | Beta-hexosaminidase, eukaryotic type, N-terminal |
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:0000618 | Blindness | |
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| | HP:0000726 | Dementia | |
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| | HP:0000741 | Apathy | |
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| | HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| | HP:0002267 | Exaggerated startle response | "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [HPO:curators] |
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| | HP:0002361 | Psychomotor degeneration | |
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| | HP:0002421 | Poor head control | |
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| | HP:0002835 | Aspiration | |
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| | HP:0003495 | GM2-ganglioside accumulation | |
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| | HP:0003593 | Early onset | |
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| | HP:0010729 | Cherry red spot of the macula | |
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Interacting proteins (from Reactome)
1 s.
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