FOXP2

FOXP2
Egitura erabilgarria PDB Ortologoaren bilaketa: PDBe RCSB PDB ID kodeen zerrenda 2AS5, 2A07
Identifikatzaileak
Aliasak	FOXP2 (HUGO), CAGH44, SPCH1, TNRC10, forkhead box P2
Kanpoko IDak	OMIM: 605317   MGI: 2148705   HomoloGene: 33482   GeneCards: FOXP2   OMA: FOXP2 - orthologs
Genetikoki lotutako gaixotasunak
developmental verbal dyspraxia  [1]
Genearen kokapena (gizakia) Kromosoma: 7 (gizakia)[2] Banda 7q31.1 Hasiera 114.086.327 bp[2] Amaiera 114.693.772 bp[2]
Genearen kokapena (sagua) Kromosoma: 6 (sagua)[3] Banda 6|6 A1 Hasiera 14.901.348 bp[3] Amaiera 15.441.976 bp[3]
RNA adierazpen eredua Bgee gizakia sagua (ortholog) Adierazpen ohikoena buccal mucosa cell  Atzeko muskulu tibial  mucosa of paranasal sinus  bronchial epithelial cell  endothelial cell  muscle layer of sigmoid colon  epithelium of colon  esperma  Deltoide sural nerve  Adierazpen ohikoena olfactory tubercle  Rostral migratory stream  inferior colliculi  multiform layer of neocortex  medial dorsal nucleus  medial geniculate nucleus  nucleus accumbens  habenula  left lung lobe  genital tubercle  Erreferentziazko adierazpen datu gehiago BioGPS Erreferentziazko adierazpen datu gehiago
Gene ontologia Funtzio molekularra DNA binding  sequence-specific DNA binding  protein homodimerization activity  DNA-binding transcription factor activity  metal ion binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  proteina lotura  protein heterodimerization activity  identical protein binding  DNA-binding transcription factor activity, RNA polymerase II-specific  androgen receptor binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  Zelularen osagaia zelula nukleo  Prozesu biologikoa positive regulation of epithelial cell proliferation involved in lung morphogenesis  regulation of transcription, DNA-templated  lung development  positive regulation of epithelial cell proliferation  negative regulation of transcription by RNA polymerase II  post-embryonic development  transcription, DNA-templated  cerebellum development  putamen development  vocal learning  positive regulation of mesenchymal cell proliferation  smooth muscle tissue development  cerebral cortex development  caudate nucleus development  camera-type eye development  lung alveolus development  righting reflex  negative regulation of transcription, DNA-templated  skeletal muscle tissue development  forebrain development  response to testosterone  innate vocalization behavior  anatomical structure morphogenesis  Zelula bereizte  growth  Iturburuak: : Amigo / QuickGO
Ortologoak Espeziea Gizakia Sagua Entrez 93986 114142 Ensembl ENSG00000128573 ENSMUSG00000029563 UniProt O15409 Q75MZ5 Q0PRL4 Q8N6B6 P58463 RefSeq (RNAm) NM_001172766 NM_001172767 NM_014491 NM_148898 NM_148899 NM_148900 NM_053242 NM_212435 NM_001286607 RefSeq (proteina) NP_001166237 NP_001166238 NP_055306 NP_683696 NP_683697 NP_683698 NP_001166237.1 NP_683697.2 NP_001273536 NP_444472 NP_997600 Kokapena (UCSC) Chr 7: 114.09 – 114.69 Mb Chr 6: 14.9 – 15.44 Mb PubMed bilaketa [4] [5]
Wikidata
Ikusi/Editatu giza genea Ikusi/Editatu saguaren genea

Forkhead box protein P2 (FOXP2) proteina bat da, gizakietan FOXP2 geneak kodetzen duena. CAGH44, SPCH1 edo TNRC10 izenak ere baditu. Hizkuntza eta mintzoarekin lotuta dagoen genea da^[6]. Ornodun ugarik duten genea da, eta askotan jokatzen du komunikazioarekin lotutako paper bat, adibidez txorien kantak garatzeko gaitasuna.

Hasiera batean, KE familiak zuen hizkuntza-nahasmendu batekin identifikatu zenean^[7], FOXP2 izan zen lehen genea hitz egiteko gaitasunari lotua. Giza 7. kromosoman kokatua (7q31, SPCH1 kokapena) umeki zein helduen burmuin, bihotz, birika eta hesteetan espresioak ditu. FOXP2ren ortologoak beste ugaztun batzuetan ere identifikatu dira. Genea aktiboagoa da emeetan arretan baino.

1. ↑ Genetikoki lotutako gaixotasunak FOXP2ikusi/editatu erreferentziak Wikidatan. .
2. ↑ ^{a b c} GRCh38: Ensembl release 89: ENSG00000128573 - Ensembl, May 2017
3. ↑ ^{a b c} GRCm38: Ensembl release 89: ENSMUSG00000029563 – Ensembl, May 2017
4. ↑ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ↑ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
6. ↑ (Ingelesez) Lai, Cecilia S. L.; Fisher, Simon E.; Hurst, Jane A.; Vargha-Khadem, Faraneh; Monaco, Anthony P.. (2001-10). «A forkhead-domain gene is mutated in a severe speech and language disorder» Nature 413 (6855): 519–523.  doi:10.1038/35097076. ISSN 0028-0836. (Noiz kontsultatua: 2018-11-21).
7. ↑ (Ingelesez) Nudel, Ron; Newbury, Dianne F. (2013-08-13). «FOXP2» Wiley Interdisciplinary Reviews: Cognitive Science 4 (5): 547–560.  doi:10.1002/wcs.1247. ISSN 1939-5078. PMID 24765219. PMC PMC3992897. (Noiz kontsultatua: 2018-11-21).