SLC24A5

Summary

SLC24A5 (solute carrier family 24 member 5, HGNC:20611) is a protein-coding gene on chromosome 15q21.1, encoding Sodium/potassium/calcium exchanger 5 (Q71RS6). Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+).

This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation.

Source: NCBI Gene 283652 — RefSeq curated summary.

At a glance

• Gene–disease (curated): oculocutaneous albinism type 6 (Definitive, GenCC)
• GWAS associations: 21
• Clinical variants (ClinVar): 126 total — 12 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 12
• MANE Select transcript: NM_205850

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20611
Approved symbol	SLC24A5
Name	solute carrier family 24 member 5
Location	15q21.1
Locus type	gene with protein product
Status	Approved
Aliases	JSX, OCA6, NCKX5
Ensembl gene	ENSG00000188467
Ensembl biotype	protein_coding
OMIM	609802
Entrez	283652

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron

ENST00000341459, ENST00000449382, ENST00000463289, ENST00000482911

RefSeq mRNA: 1 — MANE Select: NM_205850 NM_205850

CCDS: CCDS10128

Canonical transcript exons

ENST00000341459 — 9 exons

Exon	Start	End
ENSE00001364100	48121857	48122036
ENSE00001364865	48138969	48139175
ENSE00001382203	48120990	48121165
ENSE00001384487	48141113	48141214
ENSE00001385395	48136683	48136963
ENSE00001919044	48142029	48142672
ENSE00003489229	48134258	48134341
ENSE00003647742	48134884	48134984
ENSE00003667994	48134435	48134538

Expression profiles

Bgee: expression breadth broad, 59 present calls, max score 77.11.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.4565 / max 738.4617, expressed in 114 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
146537	1.9951	102
146538	1.4614	72

Top tissues by expression

122 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.11	gold quality
quadriceps femoris	UBERON:0001377	61.89	gold quality
skin of abdomen	UBERON:0001416	60.58	gold quality
thymus	UBERON:0002370	60.50	silver quality
zone of skin	UBERON:0000014	60.25	gold quality
vastus lateralis	UBERON:0001379	60.14	gold quality
cerebellar vermis	UBERON:0004720	59.81	gold quality
skin of leg	UBERON:0001511	59.34	gold quality
trachea	UBERON:0003126	59.07	gold quality
dorsal plus ventral thalamus	UBERON:0001897	59.03	gold quality
dorsal root ganglion	UBERON:0000044	58.67	gold quality
epithelium of bronchus	UBERON:0002031	58.19	gold quality
layer of synovial tissue	UBERON:0007616	57.91	gold quality
metanephric glomerulus	UBERON:0004736	55.97	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
substantia nigra	UBERON:0002038	47.81	gold quality
endometrium epithelium	UBERON:0004811	46.85	gold quality
bone marrow cell	CL:0002092	46.81	gold quality
cerebellum	UBERON:0002037	46.58	silver quality
cerebellar cortex	UBERON:0002129	46.32	silver quality
cerebellar hemisphere	UBERON:0002245	45.92	silver quality
sural nerve	UBERON:0015488	45.57	gold quality
right hemisphere of cerebellum	UBERON:0014890	43.96	silver quality
duodenum	UBERON:0002114	43.92	gold quality
testis	UBERON:0000473	43.79	gold quality
right testis	UBERON:0004534	43.36	gold quality
bone marrow	UBERON:0002371	42.89	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.11

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 22)

• the variant allele is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations, suggesting a key role for the SLC24A5 gene in human pigmentation (PMID:16357253)
• The p.L374F allele in SLC45A2 is a more specific ancestry informative marker than the p.A111T allele in SLC24A5, as it clearly distinguishes Sri Lankans from Europeans. (PMID:16847698)
• The NCKX5 protein, encoded by the SLC24A5 gene, is localized to the trans-Golgi network where it may influence melanosomal assembly. The SLC24A5 allele encoding threonine-111 confers reduced NCKX5 activity. (PMID:18166528)
• non-synonymous single nucleotide polymorphism in SLC24A5 alters a residue that is important for NCKX5 and NCKX2 activity (PMID:18166528)
• Greek subjects showed a prevalence of the Thr(111) allele variant of the SLC24A5 gene, even among subjects with darker skin pigmentation or phototype. (PMID:18637132)
• higher tyrosinase protein abundance was not observed for any NCKX5-111 allele variation (PMID:18650849)
• NCKX5, a natural regulator of human skin colour variation, regulates the expression of key pigment genes MC1R and alpha-MSH and alters cholesterol homeostasis in normal human melanocytes. (PMID:23224873)
• SLC24A5 is a previously unreported nonsyndromic oculocutaneous albinism candidate gene. (PMID:23364476)
• We observed a heterogeneous phenotype among seven oculocutaneous albinism patients with SLC24A5 mutations. (PMID:23985994)
• All chromosomes carrying the A111T allele of SLC24A5 gene share a single 78-kb haplotype indicating that all instances of this mutation in human populations share a common origin. (PMID:24048645)
• Sequencing 11.74 kb of SLC24A5 in 95 individuals worldwide reveals that the rs1426654-A alleles in South Asian and West Eurasian populations are monophyletic and occur on the background of a common haplotype that is characterized by low genetic diversity (PMID:24244186)
• the SLC24A5 gene locus known to be associated with skin pigmentation was in the top selection signals in the Wolaita, and the alleles of single-nucleotide polymorphisms rs1426654 and rs1834640 (SLC24A5) associated with light skin pigmentation (PMID:25370040)
• Polymorphisms of SLC24A5 were found to be associated with skin, hair, and eye color in a phenotypically diverse Brazilian population, considered useful in forensic science for crime investigation and facial reconstruction in unknown bodies. (PMID:25801600)
• a novel homozygous mutation in SLC24A5 in two patients from French Guiana strengthens the importance of screening this gene in oculocutaneous albinism patients. (PMID:26491832)
• Letter/Case Report: OCA6 mutation in 6 year old boy with oculocutaneous albinism. (PMID:26686029)
• mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human amylogenesis imperfecta and non-syndromic oculocutaneous albinism patients. (PMID:27129268)
• both polymorphisms (rs1426654 and rs2470102) play an important role in the skin pigmentation diversity of South Asians (PMID:27866970)
• NCKX5 is not a plasma membrane resident and is exclusively located in the trans Golgi network. (PMID:29981211)
• The derived causal allele in SLC24A5, p.Ala111Thr, significantly lightens basal skin pigmentation in the KhoeSan and explains 8 to 15% of phenotypic variance in these populations. The frequency of this allele (33 to 53%) is far greater than expected from gene flow. We show that the allele was introduced into the KhoeSan only 2,000 y ago via a back-to-Africa migration and then experienced a selective sweep. (PMID:30530665)
• This study identifies two novel SLC24A5 frame-shift variants in two unrelated Chinese oculocutaneous albinism type 6 patients. (PMID:31486119)
• Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6. (PMID:32274888)
• Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population. (PMID:37294081)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc24a5	ENSDARG00000024771
mus_musculus	Slc24a5	ENSMUSG00000035183
rattus_norvegicus	Slc24a5	ENSRNOG00000005158
drosophila_melanogaster	CG1090	FBGN0037238

Paralogs (4): SLC24A1 (ENSG00000074621), SLC24A4 (ENSG00000140090), SLC24A2 (ENSG00000155886), SLC24A3 (ENSG00000185052)

Protein

Protein identifiers

Sodium/potassium/calcium exchanger 5 — Q71RS6 (reviewed: Q71RS6)

Alternative names: Na(+)/K(+)/Ca(2+)-exchange protein 5, Solute carrier family 24 member 5

All UniProt accessions (2): Q71RS6, H0YLZ0

UniProt curated annotations — full annotation on UniProt →

Function. Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+). Involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium-calcium exchanger in melanocytes.

Subcellular location. Golgi apparatus. trans-Golgi network membrane. Melanosome.

Disease relevance. Albinism, oculocutaneous, 6 (OCA6) [MIM:113750] A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus. The disease is caused by variants affecting the gene represented in this entry.

Polymorphism. Genetic variants in SLC24A5 define the skin/hair/eye pigmentation variation locus 4 (SHEP4) [MIM:113750]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. The Ala-111 allele predominates (93 to 100%) in African and East Asian populations. In contrast, the Thr-111 allele is nearly fixed (98.7 to 100%) in European populations, is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations.

Similarity. Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q71RS6-1	1	yes
Q71RS6-2	2

RefSeq proteins (1): NP_995322* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004481	K/Na/Ca-exchanger	Family
IPR004837	NaCa_Exmemb	Domain
IPR044880	NCX_ion-bd_dom_sf	Homologous_superfamily

Pfam: PF01699

Catalyzed reactions (Rhea), 1 shown:

• Ca(2+)(out) + K(+)(out) + 4 Na(+)(in) = Ca(2+)(in) + K(+)(in) + 4 Na(+)(out) (RHEA:69967)

UniProt features (27 total): topological domain 12, transmembrane region 11, signal peptide 1, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q71RS6-F1	76.63	0.43

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-425561	Sodium/Calcium exchangers
R-HSA-5619036	Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
R-HSA-1643685	Disease
R-HSA-382551	Transport of small molecules
R-HSA-425393
R-HSA-425407	SLC-mediated transmembrane transport
R-HSA-5619102	SLC transporter disorders
R-HSA-5619115	Disorders of transmembrane transporters

MSigDB gene sets: 107 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_PHENOL_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOCC_TRANS_GOLGI_NETWORK, GOBP_CALCIUM_ION_IMPORT, WTGAAAT_UNKNOWN, GOBP_PIGMENT_METABOLIC_PROCESS, GOBP_MONOATOMIC_ION_HOMEOSTASIS, GATA1_02, GOBP_PIGMENT_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_SECONDARY_METABOLIC_PROCESS, GOBP_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT

GO Biological Process (13): monoatomic ion transport (GO:0006811), intracellular calcium ion homeostasis (GO:0006874), monoatomic ion transmembrane transport (GO:0034220), melanin biosynthetic process (GO:0042438), negative regulation of melanin biosynthetic process (GO:0048022), calcium ion import (GO:0070509), calcium ion transmembrane transport (GO:0070588), potassium ion transport (GO:0006813), sodium ion transport (GO:0006814), calcium ion transport (GO:0006816), sodium ion transmembrane transport (GO:0035725), transmembrane transport (GO:0055085), potassium ion transmembrane transport (GO:0071805)

GO Molecular Function (7): calcium channel activity (GO:0005262), calcium, potassium:sodium antiporter activity (GO:0008273), symporter activity (GO:0015293), calcium:sodium antiporter activity (GO:0005432), protein binding (GO:0005515), calcium ion transmembrane transporter activity (GO:0015085), antiporter activity (GO:0015297)

GO Cellular Component (5): trans-Golgi network (GO:0005802), trans-Golgi network membrane (GO:0032588), melanosome (GO:0042470), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Metal ion SLC transporters	1
SLC transporter disorders	1
Transport of small molecules	1
Disorders of transmembrane transporters	1
Disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
monoatomic cation transmembrane transport	3
metal ion transport	3
transport	2
calcium ion transport	2
secondary active transmembrane transporter activity	2
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
monoatomic ion transport	1
transmembrane transport	1
melanin metabolic process	1
secondary metabolite biosynthetic process	1
pigment biosynthetic process	1
phenol-containing compound biosynthetic process	1
melanin biosynthetic process	1
regulation of melanin biosynthetic process	1
negative regulation of secondary metabolite biosynthetic process	1
sodium ion transport	1
cellular process	1
potassium ion transport	1
monoatomic cation channel activity	1
calcium ion transmembrane transporter activity	1
calcium:sodium antiporter activity	1
solute:potassium antiporter activity	1
sodium ion transmembrane transporter activity	1
calcium:monoatomic cation antiporter activity	1
binding	1
metal ion transmembrane transporter activity	1
calcium ion transmembrane transport	1
Golgi apparatus subcompartment	1
trans-Golgi network	1
organelle membrane	1
pigment granule	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1047 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC24A5	SLC45A2	Q9UMX9	983
SLC24A5	OCA2	Q04671	946
SLC24A5	EDAR	Q9UNE0	903
SLC24A5	TPCN2	Q8NHX9	903
SLC24A5	TYRP1	P17643	881
SLC24A5	TYR	P14679	870
SLC24A5	MC1R	Q01726	859
SLC24A5	EDA2R	Q9HAV5	828
SLC24A5	LRMDA	Q9H2I8	773
SLC24A5	ASIP	P42127	749
SLC24A5	GPR143	P51810	667
SLC24A5	IRF4	Q15306	623
SLC24A5	DCT	P40126	619
SLC24A5	CTXN2	P0C2S0	616
SLC24A5	PMEL	P40967	610

IntAct

7 interactions, top by confidence:

A	B	Type	Score
MEOX2	SLC24A5	psi-mi:“MI:0915”(physical association)	0.560
SLC24A5	TMEM186	psi-mi:“MI:0914”(association)	0.530
SLC24A5	SYVN1	psi-mi:“MI:0914”(association)	0.350
SLC24A5	NBAS	psi-mi:“MI:0914”(association)	0.350
SLC24A5	MEOX2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (39): ABCB10 (Affinity Capture-MS), TMEM186 (Affinity Capture-MS), SYVN1 (Affinity Capture-MS), SLC24A5 (Two-hybrid), ABCB10 (Affinity Capture-MS), TMEM186 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), B4GAT1 (Affinity Capture-MS), BNIP1 (Affinity Capture-MS), CCNT1 (Affinity Capture-MS), CEP170 (Affinity Capture-MS), CSDE1 (Affinity Capture-MS), EIF5B (Affinity Capture-MS), ENAH (Affinity Capture-MS), ERLEC1 (Affinity Capture-MS)

ESM2 similar proteins: A0AV02, A2AWR3, A2VCW5, A4QN56, A6QP84, B2RXV4, D4A7H1, F7B113, G8XYX6, O08705, O70324, P09131, P19634, P21129, P23791, P26431, P26434, P26435, P36021, P48761, P48762, P97751, Q0V8N6, Q14973, Q28036, Q3KNW5, Q3UEZ8, Q4JLT5, Q5PT54, Q5PT56, Q5R9A7, Q61165, Q70EX6, Q71RS6, Q7Z3F1, Q8BFW9, Q8BLV3, Q8BUE1, Q8BZ00, Q8C261

Diamond homologs: F1NXU8, O04034, O60721, Q49SH1, Q6AXS0, Q6J4K2, Q71RS6, Q925Q3, Q9FKP1, Q9FKP2, O16242, P87122, Q8CGQ8, Q8NFF2, Q99PD7, Q9EPQ0, Q9HC58, Q9U6A0, Q9VN12, P34315, P34322, Q8C261, Q91WD8, Q9IAL8, B8K1V7, O22252, O46383, O54701, P23685, P32418, P45394, P48765, P48766, P48767, P48768, P70414, Q01728, Q0ZAI3, Q28139, Q2R041

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
SLC24A5	“down-regulates quantity”	calcium(2+)	relocalization
SLC24A5	“down-regulates quantity”	potassium(1+)	relocalization
SLC24A5	“up-regulates quantity”	sodium(1+)	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

126 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	12
Likely pathogenic	6
Uncertain significance	55
Likely benign	46
Benign	2

Top pathogenic / likely-pathogenic (18)

Variant ID	HGVS	Classification
1284554	NM_205850.3(SLC24A5):c.184C>T (p.Gln62Ter)	Pathogenic
1408941	NM_205850.3(SLC24A5):c.20_29del (p.Gln7fs)	Pathogenic
2048016	NM_205850.3(SLC24A5):c.279del (p.Ser94fs)	Pathogenic
2115752	NM_205850.3(SLC24A5):c.133del (p.Gln45fs)	Pathogenic
2116280	NM_205850.3(SLC24A5):c.96del (p.Gln34fs)	Pathogenic
2133309	NM_205850.3(SLC24A5):c.26G>A (p.Trp9Ter)	Pathogenic
2137667	NM_205850.3(SLC24A5):c.216T>G (p.Tyr72Ter)	Pathogenic
2137668	NM_205850.3(SLC24A5):c.344C>A (p.Ala115Glu)	Pathogenic
3342242	GRCh37/hg19 15q21.1(chr15:48413242-48414233)x0	Pathogenic
3649840	NM_205850.3(SLC24A5):c.430G>T (p.Gly144Ter)	Pathogenic
4715838	NM_205850.3(SLC24A5):c.83C>G (p.Ser28Ter)	Pathogenic
985686	NM_205850.3(SLC24A5):c.989G>A (p.Trp330Ter)	Pathogenic
1515737	NM_205850.3(SLC24A5):c.591-1G>A	Likely pathogenic
2003903	NM_205850.3(SLC24A5):c.302-1G>C	Likely pathogenic
2013425	NM_205850.3(SLC24A5):c.121+1G>A	Likely pathogenic
2069572	NM_205850.3(SLC24A5):c.489+2T>C	Likely pathogenic
3027497	NM_205850.3(SLC24A5):c.301+1G>T	Likely pathogenic
4073705	NM_205850.3(SLC24A5):c.328G>C (p.Gly110Arg)	Likely pathogenic

SpliceAI

967 predictions. Top by Δscore:

Variant	Effect	Δscore
15:48141107:TTACA:T	acceptor_loss	0.9900
15:48141108:TACAG:T	acceptor_loss	0.9900
15:48141110:CAGG:C	acceptor_loss	0.9900
15:48141111:A:AG	acceptor_gain	0.9900
15:48141111:AG:A	acceptor_gain	0.9900
15:48141111:AGG:A	acceptor_gain	0.9900
15:48141111:AGGGG:A	acceptor_loss	0.9900
15:48141112:G:GG	acceptor_gain	0.9900
15:48141112:GG:G	acceptor_gain	0.9900
15:48141112:GGG:G	acceptor_gain	0.9900
15:48141210:AAAAG:A	donor_loss	0.9900
15:48141211:AAAG:A	donor_loss	0.9900
15:48141212:AAGGT:A	donor_loss	0.9900
15:48141213:AG:A	donor_loss	0.9900
15:48141214:GGTA:G	donor_loss	0.9900
15:48141215:G:C	donor_loss	0.9900
15:48141216:T:G	donor_loss	0.9900
15:48121161:CACAG:C	donor_loss	0.9800
15:48121162:ACAGG:A	donor_loss	0.9800
15:48121164:AGGTA:A	donor_loss	0.9800
15:48121166:G:GC	donor_loss	0.9800
15:48121167:T:G	donor_loss	0.9800
15:48134256:A:AG	acceptor_gain	0.9800
15:48134257:G:GG	acceptor_gain	0.9800
15:48141098:ATCT:A	acceptor_loss	0.9800
15:48141106:ATTAC:A	acceptor_loss	0.9800
15:48122037:G:GG	donor_gain	0.9700
15:48134251:T:G	acceptor_gain	0.9700
15:48134434:GGT:G	acceptor_gain	0.9700
15:48136930:A:G	donor_gain	0.9700

AlphaMissense

3244 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:48134938:A:C	S182R	0.987
15:48134940:T:A	S182R	0.987
15:48134940:T:G	S182R	0.987
15:48141172:A:C	S380R	0.983
15:48141174:C:A	S380R	0.983
15:48141174:C:G	S380R	0.983
15:48141193:A:C	S387R	0.982
15:48141195:T:A	S387R	0.982
15:48141195:T:G	S387R	0.982
15:48139127:T:A	W344R	0.974
15:48139127:T:C	W344R	0.974
15:48121896:T:G	F54C	0.973
15:48141149:T:C	L372P	0.970
15:48121895:T:C	F54L	0.969
15:48121897:T:A	F54L	0.969
15:48121897:T:G	F54L	0.969
15:48134467:A:C	S140R	0.967
15:48134469:C:A	S140R	0.967
15:48134469:C:G	S140R	0.967
15:48142100:T:A	W418R	0.967
15:48142100:T:C	W418R	0.967
15:48134513:C:A	A155D	0.966
15:48141161:C:A	A376E	0.966
15:48139157:T:A	W354R	0.964
15:48139157:T:C	W354R	0.964
15:48142085:T:C	C413R	0.959
15:48139035:C:G	P313R	0.956
15:48134916:A:C	R174S	0.953
15:48134916:A:T	R174S	0.953
15:48141160:G:C	A376P	0.952

dbSNP variants (sampled 300 via entrez): RS1000127470 (15:48129382 A>G), RS1000148716 (15:48129963 C>T), RS1000260087 (15:48133935 T>C), RS1000291151 (15:48133524 G>A), RS1000308736 (15:48134750 C>A,G,T), RS1000348687 (15:48141766 A>C), RS1000360818 (15:48126063 G>A,C,T), RS1000404281 (15:48141484 G>A), RS1000770339 (15:48141539 G>A,C,T), RS1000805844 (15:48121503 G>A), RS1000814902 (15:48126432 T>C), RS1000837031 (15:48121145 A>G), RS1000906189 (15:48136441 G>A,C,T), RS1001133418 (15:48129315 T>C), RS1001183229 (15:48125453 C>T)

Disease associations

OMIM: gene MIM:609802 | disease phenotypes: MIM:113750

GenCC curated gene-disease

Disease	Classification	Inheritance
oculocutaneous albinism type 6	Definitive	Autosomal recessive

Mondo (1): oculocutaneous albinism type 6 (MONDO:0018264)

Orphanet (1): Oculocutaneous albinism type 6 (Orphanet:370097)

HPO phenotypes

12 total (12 of 12 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000505	Visual impairment
HP:0000613	Photophobia
HP:0000639	Nystagmus
HP:0001098	Abnormal fundus morphology
HP:0002286	Fair hair
HP:0007513	Generalized hypopigmentation
HP:0007663	Reduced visual acuity
HP:0007750	Hypoplasia of the fovea
HP:0008034	Abnormal iris pigmentation
HP:0008059	Aplasia/Hypoplasia of the macula
HP:0030613	Abnormal foveal morphology on macular OCT

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST000114_3	Skin pigmentation	1.000000e-50
GCST002571_1	Body mass index	4.000000e-07
GCST002571_4	Body mass index	8.000000e-07
GCST003479_8	Hair color	1.000000e-18
GCST004219_4	Skin pigmentation	3.000000e-14
GCST005188_1	Skin pigmentation	4.000000e-12
GCST005188_3	Skin pigmentation	1.000000e-08
GCST007324_119	Adventurousness	2.000000e-08
GCST007451_11	Skin, hair and eye pigmentation (multivariate analysis)	4.000000e-150
GCST007452_9	Skin pigmentation	2.000000e-130
GCST007453_7	Eye color	1.000000e-26
GCST007454_7	Hair color	1.000000e-18
GCST007455_5	Eye color (brightness)	8.000000e-50
GCST007457_7	Eye color (saturation)	6.000000e-45
GCST007740_28	Iris color (a* coordinate)	2.000000e-06
GCST007741_10	Iris color (b* coordinate)	8.000000e-09
GCST008518_5	Skin pigmentation	3.000000e-07
GCST008519_7	Skin pigmentation	6.000000e-39
GCST009391_676	Metabolite levels	2.000000e-06
GCST010302_13	Cutaneous melanoma or hair colour	1.000000e-09
GCST011355_3	Skin reflectance (Melanin index)	4.000000e-30

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0008579	risk-taking behaviour
EFO:0009764	eye colour measurement
EFO:0010506	kynurenic acid measurement
EFO:0003924	hair color

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC24 family of sodium/potassium/calcium exchangers

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, decreases expression	1
Doxorubicin	decreases expression	1
Polychlorinated Biphenyls	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4ES	1321N1-SLC24A5-KO-c4	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.