ENSG00000169933
Homo sapiens | |
Features
| Gene ID: | ENSG00000169933 | | | | | Biological name : | FRMPD4 | | | | | Synonyms : | FERM and PDZ domain containing 4 / FRMPD4 / Q14CM0 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | X | | Strand: | 1 | | Band: | p22.2 | | Gene start: | 12138466 | | Gene end: | 12724523 | | | | | Corresponding Affymetrix probe sets: | 215052_at (Human Genome U133 Plus 2.0 Array) 239290_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000482182
Ensembl peptide - ENSP00000492353
Ensembl peptide - ENSP00000370057
NCBI entrez gene - 9758
See in Manteia.
OMIM - 300838
RefSeq - XM_017029986
RefSeq - XM_011545613
RefSeq - XM_017029983
RefSeq - XM_017029984
RefSeq - XM_017029985
RefSeq - NM_014728
RefSeq - XM_005274632
RefSeq Peptide - NP_055543
swissprot - A0A1W2PQW0
swissprot - A0A087WYX8
swissprot - Q14CM0
Ensembl - ENSG00000169933
| | | | | Related genetic diseases (OMIM): | 300983 - Mental retardation, X-linked 104, 300983 |
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: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: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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Interacting proteins (from Reactome)
No match
0 s.
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