LIM2

LIM2
Identifikatori
Aliasi	LIM2
Vanjski ID-jevi	OMIM: 154045 MGI: 104698 HomoloGene: 12744 GeneCards: LIM2
Lokacija gena (čovjek)
Hrom.	Hromosom 19 (čovjek)
Kraj	51,387,974 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	43,085,420 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• structural constituent of eye lens;
Ćelijska komponenta	• integral component of membrane; • Vezikula; • međućelijske veze; • ćelijska membrana; • membrana;
Biološki proces	• camera-type eye development; • lens development in camera-type eye; • cell-cell junction assembly;
	Izvori:Amigo / QuickGO
Ortolozi
	3982
	233187
	ENSG00000105370
	ENSMUSG00000118560
	P55344
	P56563
	NM_030657; NM_001161748
	NM_177693
	NP_001155220; NP_085915
	NP_808361
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Lećin vlaknasti unutrašnji membranski protein je protein koji je kod ljudi kodiran genom, sa hromosoma 19. LIM2.^[5]^[6] Ćelijska membrana sisarskog sočiva sadrži pet glavnih proteina, veličine od 70 kD do 19 kD. Specifična funkcija ovih proteina je nepoznata. Pokazalo se da su neki od njih uključeni u pojavu katarakta, npr. Kristalni gama-1 (CRYG1), drugi najrasprostranjeniji unutrašnji membranski ćelijski protein vlakana sočiva je MP19, nazvan tako po glavnim proteinima sočiva molekulske težine 19,5 kD.^[6]

Ovaj protein sadrži četiri transmembranska domena, supstrat je za cAMP-ovisni protein kinazu i protein-kinazu C i veže se s kalmodulinom. Svi zajedno sugeriraju da MP19 na neki način funkcionira kao prerađena komponenta, koja je možda uključena u komunikaciju sa sočivnim ćelijama. Pokazalo se da je uključen u kataraktogenezu (prema OMIM)

Aminokiselinska sekvenca

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10	20	30	40	50
MYSFMGGGLF	CAWVGTILLV	VAMATDHWMQ	YRLSGSFAHQ	GLWRYCLGNK
CYLQTDSIAY	WNATRAFMIL	SALCAISGII	MGIMAFAHQP	TFSRISRPFS
AGIMFFSSTL	FVVLALAIYT	GVTVSFLGRR	FGDWRFSWSY	ILGWVAVLMT
FFAGIFYMCA	YRVHECRRLS	TPR

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000105370 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000118560 - Ensembl, maj 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.
^ Church RL, Wang J (Jul 1992). "Assignment of the lens intrinsic membrane protein MP19 structural gene to human chromosome 19". Curr Eye Res. 11 (5): 421–4. doi:10.3109/02713689209001795. PMID 1606837.
^ ^a ^b "Entrez Gene: LIM2 lens intrinsic membrane protein 2, 19kDa".

Dopunska literatura

Louis CF, Hur KC, Galvan AC, et al. (1989). "Identification of an 18,000-dalton protein in mammalian lens fiber cell membranes". J. Biol. Chem. 264 (33): 19967–73. PMID 2584203.
Church RL, Wang JH (1994). "The human lens fiber-cell intrinsic membrane protein MP19 gene: isolation and sequence analysis". Curr. Eye Res. 12 (12): 1057–65. doi:10.3109/02713689309033503. PMID 8137630.
Lieuallen K, Christensen M, Brandriff B, et al. (1994). "Assignment of the human lens fiber cell MP19 gene (LIM2) to chromosome 19q13.4, and adjacent to ETFB". Somat. Cell Mol. Genet. 20 (1): 67–9. doi:10.1007/BF02257488. PMID 8197479. S2CID 45812361.
Kerscher S, Church RL, Boyd Y, Lyon MF (1996). "Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin beta A3/A1), Crybb2 (crystallin beta B2), Gja8 (MP70), and Lim2 (MP19)". Genomics. 29 (2): 445–50. doi:10.1006/geno.1995.9983. PMID 8666393.
Gonen T, Grey AC, Jacobs MD, et al. (2002). "MP20, the second most abundant lens membrane protein and member of the tetraspanin superfamily, joins the list of ligands of galectin-3". BMC Cell Biol. 2: 17. doi:10.1186/1471-2121-2-17. PMC 48140. PMID 11532191.
Pras E, Levy-Nissenbaum E, Bakhan T, et al. (2002). "A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family". Am. J. Hum. Genet. 70 (5): 1363–7. doi:10.1086/340318. PMC 447612. PMID 11917274.
Wistow G, Bernstein SL, Ray S, et al. (2002). "Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities with retinal pigment epithelium". Mol. Vis. 8: 185–95. PMID 12107412.
Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants". Mol. Vis. 8: 171–84. PMID 12107413.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000105370 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000118560 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1606837-5] Church RL, Wang J (Jul 1992). "Assignment of the lens intrinsic membrane protein MP19 structural gene to human chromosome 19". Curr Eye Res. 11 (5): 421–4. doi:10.3109/02713689209001795. PMID 1606837.

[entrez-6] "Entrez Gene: LIM2 lens intrinsic membrane protein 2, 19kDa".

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