Publication for TYR and SLC45A2

Species	Symbol	Function*	Entrez Gene ID*	Other ID	Gene coexpression	CoexViewer
hsa	TYR	tyrosinase	7299			[link]
hsa	SLC45A2	solute carrier family 45 member 2	51151

Pubmed ID	Priority	Text
26057890	0.98	MATP-KD was associated with reduced tyrosinase activity.
	0.97	MATP significantly lowered the melanosomal pH, as verified through DAMP analysis, suggesting that MATP regulates melanosomal pH and therefore affects tyrosinase activity.
	0.96	Tyrosinase is a representative metalloprotein requiring a copper ion as a cofactor; metal coordination into proteins is sensitive to pH. We hypothesize that the acidification of melanosomal pH by MATP-KD could inhibit the incorporation of copper into tyrosinase and thus reduce tyrosinase activity.
	0.95	tyrosinase (OCA1), pink-eyed dilution protein (OCA2), tyrosinase-related protein 1 (OCA3) and membrane-associated transporter protein (OCA4).
	0.95	MATP using siRNA reduced melanin content and tyrosinase activity by acidifying the pH of the melanosomes.
	0.94	Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity
	0.94	tyrosinase, tyrosinase related protein 1 (TYRP-1), premelanosome protein 17 (PMEL17) and microphthalmia-associated transcription factor (MITF), were not altered by MATP-KD (Fig 3C and S3 Fig).
	0.94	tyrosinase activity that was significantly reduced in MATP-KD cells (Fig 4), suggesting that the reduced tyrosinase activity in MATP-KD cells is due to improper copper binding to tyrosinase under the acidic conditions in melanosomes and that the acidic conditions are due to MATP deletion.
	0.93	MATP using siRNA in MNT-1 cells and performed the in vitro L-DOPA oxidase activity assay of tyrosinase using cell lysates with or without copper sulfate.
	0.92	tyrosinase activity and that its binding to tyrosinase depends on melanosomal pH, MATP may play an important role in regulating tyrosinase activity via controlling melanosomal pH.
	0.92	MATP, correct tyrosinase processing but not intracellular trafficking to the melanosomes was observed.
	0.90	tyrosinase because N-glycosylation is an important factor for tyrosinase activity, which was reduced in the MATP-KD cells (Fig 4).
	0.90	MATP-KD cells compared to vehicle or scrambled siRNA-treated cells before and after the EndoH treatment (S4 Fig), suggesting that another mechanism is involved in the reduction of tyrosinase activity in MATP-KD cells.
	0.90	MATP-KD acidifies the melanosomal pH, which is associated with lowered tyrosinase activity.
	0.90	MATP is highly expressed in melanocytic lineages, is located in the melanosome, and is involved in maintaining the proper melanosomal pH to allow the correct incorporation of copper ions into the tyrosinase active site.
	0.89	MATP-KD reduced tyrosinase activity and induced poorly melanized melanosomes, which is consistent with the results shown for the uw-mutant melanocytes.
	0.86	MATP using siRNAs reduced melanin content and tyrosinase activity without any morphological change in melanosomes or the expression of melanogenesis-related proteins.
	0.86	MATP-KD did not alter cellular morphology (Fig 3A) but reduced the melanin content (Fig 3B) and the L-DOPA oxidase activity of tyrosinase (Fig 4).
	0.76	tyrosinase activity associated with the knockdown of MATP was readily recovered by copper treatment in the in vitro L-DOPA oxidase activity assay of tyrosinase.
	0.67	tyrosinase activity and prevents L-DOPA oxidation, the MATP-KD could influence on melanogenesis not only by inhibiting tyrosinase activity via altering copper incorporation but also by changing the portion of L-DOPA.
	0.53	tyrosinase in MATP-KD cells.
19384953	0.97	TYR, TYRP1, P-protein, SLC24A5, and MATP, are involved in inducing melanization of pheomelanosome or eumelanosome, as described in the text.
	0.96	TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP, and ATRN) with both pigmentary phenotypes (hair color, skin color, and tanning ability) and the risk of melanoma and non-melanoma skin cancer (squamous cell carcinoma (SCC) and basal cell carcinoma (BCC)) in a nested case-control study within the Nurses' Health Study (NHS).
	0.93	SLC45A2 -1721 C>G were associated with melanoma risk (OR, 0.77; 95% CI, 0.60-0.98 and OR, 0.75; 95% CI, 0.60-0.95, respectively); the TYR Ser192Tyr and ASIP rs4911414 were associated with SCC risk (OR, 1.23; 95% CI, 1.00-1.50 and OR, 1.29; 95% CI, 1.05-1.59, respectively); the OCA2 Arg419Gln and ASIP g.8818 A>G were associated with BCC risk (OR, 1.50; 95% CI, 1.06-2.13 and OR, 0.73; 95% CI, 0.53-1.00, respectively).
	0.83	TYR, OCA2, SLC45A2, and ASIP genes and skin cancer risk
	0.82	TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP, and ATRN) and both pigmentary phenotypes (hair color, skin color, and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 common controls.
	0.75	TYR Arg402Gln variant was significantly associated with skin color (p-value =7.7x10-4) and tanning ability (p-value =7.3x10-4); the SLC45A2 Phe374Leu variant was significantly associated with hair color (black to blonde) (p-value =2.4x10-7), skin color (p-value =1.1x10-7), and tanning ability (p-value =2.5x10-4).
	0.69	TYR Arg402Gln and SLC45A2 Phe374Leu were significantly associated with skin color (p-value =7.7x10-4 and 1.1x10-7, respectively) and tanning ability (p-value =7.3x10-4 and 2.5x10-4, respectively).
28630054	0.97	tyrosinase (392 TPM), MART-1 (273 TPM), and SLC45A2 (99 TPM).
	0.94	SLC45A2 mRNA was detectable in most melanoma cells and was typically coexpressed along with MDAs MART-1, PMEL, and tyrosinase.
	0.92	SLC45A2, MART-1, PMEL, and tyrosinase as assessed using RT-PCR in three different primary melanocyte lines, in addition to SLC45A2+ and SLC45A2- control melanoma cell lines, Mel526 and A375, respectively.
	0.91	SLC45A2, PMEL, MART-1, and tyrosinase in 66 melanoma cell lines, as determined by RNA-seq analysis.
	0.89	SLC45A2 was expressed by the majority (18/24, 75%) of melanoma lines (Fig. 2A and B), and in most cases was coexpressed with other tumor-associated melanocyte differentiation antigens MART1, PMEL, and tyrosinase, consistent with its reported role as a target gene for melanogenesis-associated transcription factor (MITF; ref.).
	0.81	SLC45A2 (solute carrier family 45, member 2) is an MDA protein localized within the melanosome membrane whose function is linked to processing and trafficking of tyrosinase to the melanosome and/or pH maintenance within the melanosomes.
	0.78	SLC45A2, MART-1, PMEL, tyrosinase-related protein and tyrosinase compared with nontransduced cells.
28629449	0.97	MATP dysfunction might cause an acidic melanosomal lumen, leading to incorrect incorporation of copper into tyrosinase.
	0.96	TYR, OCA2, SLC45A2 genes.
	0.96	SLC45A2 genes encode transporter proteins, which are implicated in the trafficking of tyrosinase to melanosomes.
	0.94	TYR or SLC45A2 mutation is still not completely explained.
	0.90	TYR variants on the tyrosinase protein, b OCA2 variant on the transporter protein, and c SLC45A2 variants on the transporter protein (SP signal peptide, EGF-like domain epidermal-growth-factor-like domain, CuA copper-binding domain, CuB copper-binding domain, TM transmembrane domain)
	0.65	TYR, OCA2, and SLC45A2) in 13 Hungarian OCA patients, which have been implicated in the development of isolated OCA forms.
20042077	0.97	TYR and SLC45A2 genes and hair colour
	0.90	tyrosinase (TYR) and the SLC45A2 (MATP)genes have previously been shown to associate with hair colour.
	0.89	SLC45A2, TYR, OCA2, KITLG, ASIP, and TYRP1 but others not previously implicated in pigmentation; SLC24A4, IRF4 and TPCN2 .
	0.75	TYR and SLC45A2 were only observed in the Danish population.
21541274	0.97	TYR, OCA2, and SLC45A2 are involved in melanin production, but it is unknown how they contribute to the development of the retina and the visual system.
	0.57	TYR, OCA2, TYRP1, and SLC45A2 underlie autosomal recessive OCA (OMIM 203200, 606952, 203100, 203290, 606574), and autosomal recessive OA (OA3) is caused by hypomorphic variants in OCA2.
21677667	0.97	tyrosinase-specific, and therefore likely due to the SLC45A2 defect.
	0.92	SLC45A2 protein in the patient's melanocytes caused the mis-localization of tyrosinase from melanosomes to the plasma membrane and also led to the incorporation of tyrosinase into exosomes and secretion into the culture medium, explaining the hypopigmentation in OCA-4.
14551921	0.96	tyrosinase (TYR), which catalyzes the formation of dopaquinone from tyrosine, or melanosomal membrane components like the pink-eyed dilution protein (P) or the membrane-associated transporter protein (MATP), which affect substrate availability and activity of TYR, are logical candidates upon which genetic variation could contribute to the diversity of human skin color.
	0.95	TYR, P, and MATP genes discussed earlier are well-known causes of albinism whose primary effects are limited to pigment cells; among these, the P gene is highly polymorphic but the phenotypic consequences of P gene polymorphisms are not yet known.
27092497	0.96	MATP cause a loss of function, and the inner melanosomal pH becomes acidic, following the loss of copper ions from the active form of TYR.
	0.77	MATP by siRNA or shRNA acidified the melanosomal pH more than in the control, leading to lower TYR activity.
23504663	0.95	SLC45A2 cause misrouting of tyrosinase similar to the cellular phenotype of OCA-2.
	0.92	TYR, OCA2, TYRP1, SLC45A2 Variants
	0.89	TYR (MIM# 606933), OCA2 (MIM# 611409), TYRP1 (MIM# 115501) and SLC45A2 (MIM# 606202), are the principle subject of this review.
	0.88	TYR, 5 in OCA2, 1 in TYRP1, and 2 in SLC45A2.
	0.81	TYR (Figure 2D) and SLC45A2 (Figure 2E).
	0.69	TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4).
	0.61	tyrosinase, TYRP1, and SLC45A2.
	0.51	tyrosinase (TYR), tyrosinase-related protein 1 (TYRP1), and membrane-associated transporter protein (MATP or SLC45A2) are shown at the Figure 2, Panel A. These structures were generated using homology modeling, and are presented as if incorporated into the melanosome membrane.
27829221	0.95	TYR gene may be responsible for partial clinical manifestations of OCA, while the homozygous missense mutation c.814G>A (p.Glu272Lys) in the SLC45A2 gene may not be associated with OCA.
	0.91	tyrosinase gene (TYR), OCA2, tyrosinase-related protein gene (TYRP1), and solute carrier family 45 member 2 gene (SLC45A2), respectively.
	0.83	TYR, OCA2, and SLC45A2 genes.
	0.80	TYR were found, these data suggested that compound heterozygous mutations in TYR (c.832C>T and c.929_930insC) were associated with OCA1, whereas SLC45A2 c.814G>A was not associated with OCA1.
	0.64	TYR gene may be responsible for partial clinical manifestations of OCA, while the homozygous missense mutation c.814G>A (p.Glu272Lys) in the SLC45A2 gene may not be associated with OCA.
22294196	0.95	TYR mutations, and negative samples were screened for SLC45A2 mutations.
	0.88	TYR and SLC45A2 to determine their mutation spectrums.
	0.79	TYR and SLC45A2 were found in 6 (46.2%) patients and 1 (7.7%) patient, respectively.
	0.61	TYR and SLC45A2 genes in patients with oculocutaneous albinism
24267888	0.95	TYR expression but does not affect expression of SLC45A2 or SLC24A5.
	0.91	TYR was reduced to 50% compared to untreated control whereas the expression of the pigmentation genes SLC45A2 (MATP), SLC24A5 and DCT were largely unaffected (Figure 6b).
	0.64	TYR, MATP, SLC24A5 and DCT as determined by qPCR, after treatment with siIRF4 or control siRNAs.
24733089	0.95	TYR, TYRP1, MLANA, DCT, SLC45A2, and BCL2A1) were expressed at significantly (P<0.05) higher levels in the melanospheres than monolayers (Fig. 4B).
	0.93	tyrosinase (TYR), tyrosinase-related protein 1 (TYRP-1) and dopachrome tautomerase (DCT, also known as TYRP-2), RAB27A, which is essential for normal pigmentation, LYST, a lysosomal trafficking regulator, and SLC45A2, a membrane-associated transporter protein involved in melanin synthesis (Fig. 4A).
21983787	0.95	SLC45A2, IRF4 and TYR are confirmed to be associated with pigmentation, while the rs4911442 SNP on chromosome 20 shows strong association with pigmentation, increasing the evidence that ASIP truly is the focus of this hit and implicating probable linkage disequilibrium (LD) with variants within an ASIP regulatory region.
24739399	0.95	TYR catalytic activity to produce melanin is opposed to other pigmentation genes that may be more selective in their influence on melanogenesis depending on the location of the melanocytes in the skin (SLC45A2, SLC24A5), hair (MC1R) or iris (OCA2).
28777813	0.95	tyrosinase (TYR), tyrosinase-related protein-1 (TYRP1), P (OCA2), solute carrier family 45 member 2 (SLC45A2), and G-protein coupled receptor 143 (GPR143), and defects in any of these enzymes could result in albinism.
26053207	0.94	tyrosinase-related protein 1) and is often characterized by a milder phenotype with nearly normal hair and skin pigmentation relative to OCA1 and OCA2, whereas OCA4 (MIM #606574) is caused by SLC45A2 mutations and demonstrates a variable phenotype spanning the entire spectrum of hair and iris color permutations.
23110848	0.93	TYR, SLC24A5, SLC45A2).
	0.81	TYR, OCA2, TYRP1, SLC45A2 and HPS6 to be defined as human pigmentation-related genes.
	0.76	MATP protein in melanocytes carrying an albinism mutation was shown to lead to mislocalization of TYR from melanosomes to the plasma membrane and incorporation of TYR into exosomes.
	0.67	TYR SLC45A2, and for incomplete sweeps for multiple other loci such as MC1R (Table 2).
20546537	0.93	TYR, TYRP1, SLC45A2, and OCA2 gene regions with pigmentation factors.
	0.92	SLC45A2, TYR, MC1R, and ASIP, suggesting that BCC and melanoma share a common pathway to development via pigmentation.
	0.83	tyrosinase (TYR), tyrosinase-related protein 1 (TYRP1), oculocutaneous albinism type 2 gene (OCA2, previously called P gene), and solute carrier family 45, member 2 (SLC45A2, previously called membrane-associated transporter protein, MATP) (reviewed in).
27468418	0.93	tyrosinase (TYR, OMIM #606933), solute carrier family 45, member 2 (SLC45A2, OMIM #606202), solute carrier family 24, member 5, (SLC24A5, OMIM #609802) and interferon regulatory factor 4 (IRF4, OMIM #601900).
31199599	0.92	TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism
	0.90	TYR, OCA2, and SLC45A2 mutation analysis was carried out on 18 nonconsanguineous OCA patients and four fetuses were included for prenatal diagnose.
	0.70	TYR, OCA2, TYRP1, MATP (SLC45A2), SLC24A5, or C10ORF11 can cause OCA type 1, OCA type 2, OCA type 3, OCA type 4, OCA type 6, and OCA type 7, respectively (Kamaraj et al., 2014), which are identified as nonsyndromic OCA.
	0.57	TYR, OCA2, and SLC45A2 in 18 Chinese OCA patients, two novel mutations in OCA2 and one novel mutation in TYR were identified.
26926045	0.92	SLC45A2, TYR, OCA2/HERC2 and SLC24A5; Table 1 and Supplementary Fig. 8).
20806075	0.91	TYR, P, TYRP1, MATP, and GPR143, no pathological gene mutations were detected among the selected candidate genes in a few probands.
25093503	0.90	SLC45A2 has a major function in the process of melanin synthesis by controlling the activity and traffic of tyrosinase to the melanosomes, and maintaining the melanosomal pH. SLC45A2, also known as MATP or AIM1, is a membrane associated transporter gene located on chromosome 5p and consists of seven exons spanning a region of approximately 40 kb.
28831430	0.88	tyrosinase (TYR), OCA2 gene (a P protein), tyrosinase-related protein (TYRP), and the membrane-associated transporter protein, which is also known as solute carrier family 45 member 2.
28125434	0.87	SLC45A2 serves a major function in the process of melanin synthesis by controlling the activity and traffic of tyrosinase to the melanosomes and maintaining the melanosomal pH. SLC45A2, also known as MATP or AIM1, is a membrane-associated transporter gene located on chromosome 5p and consists of seven exons spanning a region of ~40 kb.
26938746	0.86	solute carrier family 45 member 2 (SLC45A2), tyrosinase (TYR), tyrosinase-related protein 1 (TYRP1), and melanocortin 1 receptor MC1R.
21382323	0.77	tyrosinase, Tyrp1, P (pink eyed dilution), MATP (membrane-associated transporter protein)/SLC45A2 et OA1 (ocular albinism 1)/GPR143 (G protein-coupled receptor 143) (voir Encadre 3).
24647637	0.73	TYR, OCA2, TYRP1 and SLC45A2 (Table 1 and Table S1).
28298193	0.63	SLC45A2 knockdown reduced melanin content and tyrosinase activity by acidifying the pH of melanosomes in a human melanoma cell line, MNT-1.
26829030	0.54	SLC45A2 encodes a membrane-associated transporter enzyme, and loss of SLC45A2 activity has been found to disrupt post-Golgi-level trafficking of tyrosinase to the melanosomes where melanin is synthesized and stored.