ENSG00000080561
Homo sapiens | |
Features
| Gene ID: | ENSG00000080561 | | | | | Biological name : | MID2 | | | | | Synonyms : | MID2 / midline 2 / Q9UJV3 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | X | | Strand: | 1 | | Band: | q22.3 | | Gene start: | 107825755 | | Gene end: | 107927193 | | | | | Corresponding Affymetrix probe sets: | 208384_s_at (Human Genome U133 Plus 2.0 Array) 209733_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000413976
Ensembl peptide - ENSP00000262843
Ensembl peptide - ENSP00000410730
NCBI entrez gene - 11043
See in Manteia.
OMIM - 300204
RefSeq - XM_017029239
RefSeq - NM_012216
RefSeq - NM_052817
RefSeq - XM_005262062
RefSeq Peptide - NP_438112
RefSeq Peptide - NP_036348
swissprot - Q9UJV3
swissprot - A6PVI4
Ensembl - ENSG00000080561
| | | | | Related genetic diseases (OMIM): | 300928 - ?Mental retardation, X-linked 101, 300928 |
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:0000276 | Long face | |
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| | HP:0000400 | Large ears | |
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| | HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| | HP:0000752 | Hyperactivity | |
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| | HP:0001249 | Mental retardation | |
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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:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| | HP:0001344 | Absent speech development | |
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| | HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| | HP:0002465 | Poor speech | |
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| | HP:0003577 | Onset at birth | |
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Interacting proteins (from Reactome)
No match
0 s.
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