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Microcephalin

Microcephalin (MCPH1) is a gene that is expressed during fetal brain development. Certain mutations in MCPH1, when homozygous, cause primary microcephaly—a severely diminished brain. Hence, it has been assumed that variants have a role in brain development. However, in normal individuals no effect on mental ability or behavior has yet been demonstrated…

Research, Other MCPH genes & Evolution

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Aliases
MCPH1, BRIT1, MCT, microcephalin 1
Available structures
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes3T1N, 3SHT, 2WT8, 3SHV, 3U3Z, 3KTF, 3PA6, 3SZM
Band
8p23.1 · 8|8 A1.3
Bgee
secondary oocyte · ganglionic eminence · Achilles tendon · ventricular zone · bone marrow cell
BioGPS
n/a
Chr.
Chromosome 8 (human) · Chromosome 8 (mouse)

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Overview

Structure

Expression in the brain

Evolution

Controversy

Other MCPH genes

Research studies

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Map overview Semantic statistics

Microcephalin

Nodes52
Edges51
Triples92
Avg. degree1.96
Density0.038462
Components1

How this topic connects Entity context

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Microcephalin

Top relations

Bgee · 19
Microcephalin → Achilles tendon, bone marrow cell, epiblast, ganglionic eminence, gastrocnemius muscle, genital tubercle, hand, muscle of thigh, otic vesicle, popliteal artery, primary oocyte, primitive streak, secondary oocyte, spermatocyte, tail of embryo, testicle, tibial arteries, ventricular zone, zygote
RNA expression pattern · 19
Microcephalin → Achilles tendon, bone marrow cell, epiblast, ganglionic eminence, gastrocnemius muscle, genital tubercle, hand, muscle of thigh, otic vesicle, popliteal artery, primary oocyte, primitive streak, secondary oocyte, spermatocyte, tail of embryo, testicle, tibial arteries, ventricular zone, zygote
Gene ontology · 17
Microcephalin → bone development, cerebral cortex development, cytoplasm, cytoskeleton, establishment of mitotic spindle orientation, identical protein binding, microtubule organizing center, negative regulation of transcription by RNA polymerase II, neuronal stem cell population maintenance, nucleoplasm, protein binding, protein localization to centrosome, regulation of centrosome cycle, regulation of chromosome condensation, regulation of gene expression, regulation of inflammatory response, regulation of kinase activity
related to Evolution · 10
Microcephalin → ASPM, Homo, However, IQ, MCPH1, Neanderthal, Sub-Saharan Africa, The, This, While Neanderthals
related to Structure · 4
Microcephalin → C-terminal BRCT, InterPro, IPR022047, N-terminal BRCT
Band · 2
Microcephalin → 8p23.1, 8|8 A1.3
Chr. · 2
Microcephalin → Chromosome 8 (human), Chromosome 8 (mouse)
End · 2
Microcephalin → 18,853,205 bp, 6,648,508 bp
Aliases · 1
Microcephalin → MCPH1, BRIT1, MCT, microcephalin 1
Available structures · 1
Microcephalin → Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes3T1N, 3SHT, 2WT8, 3SHV, 3U3Z, 3KTF, 3PA6, 3SZM

Important terminology Word statistics

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Important terminology

mcph1 brain gene bp human microcephaly chr band chromosome genes studies development variants however aspm cdk5rap2 structure expressed location may

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
MicrocephalinAliasesMCPH1, BRIT1, MCT, microcephalin 11.00infobox
MicrocephalinAvailable structuresAvailable structuresPDBOrtholog search: PDBe RCSB List of PDB id codes3T1N, 3SHT, 2WT8, 3SHV, 3U3Z, 3KTF, 3PA6, 3SZM1.00infobox
MicrocephalinBand8p23.11.00infobox
MicrocephalinBand8|8 A1.31.00infobox
MicrocephalinBgeesecondary oocyte1.00infobox
MicrocephalinBgeeganglionic eminence1.00infobox
MicrocephalinBgeeAchilles tendon1.00infobox
MicrocephalinBgeeventricular zone1.00infobox
MicrocephalinBgeebone marrow cell1.00infobox
MicrocephalinBgeegastrocnemius muscle1.00infobox
MicrocephalinBgeemuscle of thigh1.00infobox
MicrocephalinBgeepopliteal artery1.00infobox
MicrocephalinBgeetibial arteries1.00infobox
MicrocephalinBgeetesticle1.00infobox
MicrocephalinBgeezygote1.00infobox
MicrocephalinBgeehand1.00infobox
MicrocephalinBgeetail of embryo1.00infobox
MicrocephalinBgeeprimary oocyte1.00infobox
MicrocephalinBgeegenital tubercle1.00infobox
MicrocephalinBgeespermatocyte1.00infobox
MicrocephalinBgeeprimitive streak1.00infobox
MicrocephalinBgeeepiblast1.00infobox
MicrocephalinBgeeotic vesicle1.00infobox
MicrocephalinBioGPSn/a1.00infobox
MicrocephalinChr.Chromosome 8 (human)1.00infobox
MicrocephalinChr.Chromosome 8 (mouse)1.00infobox
MicrocephalinDatabasesNCBI: entry; OMA: entry1.00infobox
MicrocephalinEnd6,648,508 bp1.00infobox
MicrocephalinEnd18,853,205 bp1.00infobox
MicrocephalinEnsemblENSG00000147316 ENSG000002852621.00infobox

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