ENSG00000102359
Homo sapiens | |
Features
| Gene ID: | ENSG00000102359 | | | | | Biological name : | SRPX2 | | | | | Synonyms : | O60687 / SRPX2 / sushi repeat containing protein, X-linked 2 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | X | | Strand: | 1 | | Band: | q22.1 | | Gene start: | 100644166 | | Gene end: | 100675788 | | | | | Corresponding Affymetrix probe sets: | 1557241_a_at (Human Genome U133 Plus 2.0 Array) 205499_at (Human Genome U133 Plus 2.0 Array) 216639_at (Human Genome U133 Plus 2.0 Array) 229991_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000362095
Ensembl peptide - ENSP00000492571
Ensembl peptide - ENSP00000492168
Ensembl peptide - ENSP00000491188
NCBI entrez gene - 27286
See in Manteia.
OMIM - 300642
RefSeq - NM_014467
RefSeq Peptide - NP_055282
swissprot - A0A1W2PR88
swissprot - A0A1W2PNZ6
swissprot - A0A1W2PRB1
swissprot - O60687
Ensembl - ENSG00000102359
| | | | | Related genetic diseases (OMIM): | 300643 - ?Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 |
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)
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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| | HP:0007095 | Polymicrogyria, most severe in the frontoparietal regions | |
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| | HP:0007359 | Partial seizures | "Recurrent partial `seizures` (HP:0001250). In a partial seizure, the electrical disturbance is limited to one part or side of the brain. That is, partial epilepsies are epileptic disorders in which clinical or laboratory findings disclose a localized origin of seizures." [HPO:curators] |
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| | HP:0011098 | Speech apraxia | "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur." [HPO:probinson] |
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Interacting proteins (from Reactome)
No match
0 s.
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