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
Genearen kokapena (gizakia)
	Kromosoma: 7 (gizakia)
Amaiera	114.693.772 bp
Genearen kokapena (sagua)
	Kromosoma: 6 (sagua)
Amaiera	15.441.976 bp
RNA adierazpen eredua
	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
	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
	93986
	114142
	ENSG00000128573
	ENSMUSG00000029563
	O15409; Q75MZ5; Q0PRL4; Q8N6B6
	P58463
	NM_001172766; NM_001172767; NM_014491; NM_148898; NM_148899; NM_148900
	NM_053242; NM_212435; NM_001286607
	NP_001166237; NP_001166238; NP_055306; NP_683696; NP_683697; NP_683698; NP_001166237.1; NP_683697.2
	NP_001273536; NP_444472; NP_997600
	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.

Erreferentziak

↑ Genetikoki lotutako gaixotasunak FOXP2ikusi/editatu erreferentziak Wikidatan. .
↑ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000128573 - Ensembl, May 2017
↑ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029563 – Ensembl, May 2017
↑ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ (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. (kontsulta data: 2018-11-21).
↑ (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. (kontsulta data: 2018-11-21).

Kanpo estekak

Datuak: Q227241
Multimedia: FOXP2 / Q227241

[1] Genetikoki lotutako gaixotasunak FOXP2ikusi/editatu erreferentziak Wikidatan. .

[refGRCh38Ensembl-2] GRCh38: Ensembl release 89: ENSG00000128573 - Ensembl, May 2017

[refGRCm38Ensembl-3] 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. (kontsulta data: 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. (kontsulta data: 2018-11-21).

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