SLC39A5

Summary

SLC39A5 (solute carrier family 39 member 5, HGNC:20502) is a protein-coding gene on chromosome 12q13.3, encoding Zinc transporter ZIP5 (Q6ZMH5). Uniporter that transports zinc(2+) into polarized cells of enterocytes, pancreatic acinar and endoderm cells across the basolateral membrane and participates, notably, in zinc excretion from the intestine by the uptake of zinc from the blood into the intestine.

The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 283375 — RefSeq curated summary.

At a glance

• Gene–disease (curated): myopia 24, autosomal dominant (Strong, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 130 total — 2 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 3
• MANE Select transcript: NM_173596

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20502
Approved symbol	SLC39A5
Name	solute carrier family 39 member 5
Location	12q13.3
Locus type	gene with protein product
Status	Approved
Aliases	ZIP5
Ensembl gene	ENSG00000139540
Ensembl biotype	protein_coding
OMIM	608730
Entrez	283375

Gene structure

Transcript identifiers

Ensembl transcripts: 45 — 41 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000266980, ENST00000417965, ENST00000419232, ENST00000419753, ENST00000424625, ENST00000436633, ENST00000437277, ENST00000447080, ENST00000454355, ENST00000481103, ENST00000493574, ENST00000881967, ENST00000881968, ENST00000881969, ENST00000881970, ENST00000881971, ENST00000881972, ENST00000881973, ENST00000881974, ENST00000881975, ENST00000881976, ENST00000881977, ENST00000881978, ENST00000881979, ENST00000881980, ENST00000881981, ENST00000881982, ENST00000881983, ENST00000881984, ENST00000881985, ENST00000881986, ENST00000881987, ENST00000881988, ENST00000881989, ENST00000881990, ENST00000881991, ENST00000881992, ENST00000881993, ENST00000881994, ENST00000881995, ENST00000955283, ENST00000955284, ENST00000955285, ENST00000955286, ENST00000955287

RefSeq mRNA: 2 — MANE Select: NM_173596 NM_001135195, NM_173596

CCDS: CCDS8912

Canonical transcript exons

ENST00000454355 — 13 exons

Exon	Start	End
ENSE00000938688	56237150	56237340
ENSE00001059743	56236582	56236746
ENSE00001059754	56236396	56236492
ENSE00001059772	56235560	56235700
ENSE00001182138	56231204	56231561
ENSE00001593260	56230831	56230873
ENSE00001802676	56230240	56230295
ENSE00001889760	56237588	56237846
ENSE00003602522	56232689	56232872
ENSE00003633672	56236931	56237011
ENSE00003692843	56234824	56234986
ENSE00003789634	56235157	56235326
ENSE00003847918	56230051	56230122

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 99.39.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.2582 / max 256.2051, expressed in 118 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
126092	0.5638	85
126093	0.5296	86
126094	0.0728	28
126095	0.0576	20
126091	0.0344	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	99.39	gold quality
mucosa of transverse colon	UBERON:0004991	98.65	gold quality
right lobe of liver	UBERON:0001114	98.55	gold quality
duodenum	UBERON:0002114	96.26	gold quality
liver	UBERON:0002107	95.25	gold quality
kidney epithelium	UBERON:0004819	94.56	silver quality
rectum	UBERON:0001052	94.18	gold quality
jejunal mucosa	UBERON:0000399	93.68	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.28	gold quality
adult mammalian kidney	UBERON:0000082	93.01	gold quality
small intestine	UBERON:0002108	92.42	gold quality
transverse colon	UBERON:0001157	90.74	gold quality
ileal mucosa	UBERON:0000331	90.25	gold quality
pancreas	UBERON:0001264	89.31	gold quality
kidney	UBERON:0002113	87.82	gold quality
colonic mucosa	UBERON:0000317	86.34	gold quality
mucosa of sigmoid colon	UBERON:0004993	84.74	gold quality
intestine	UBERON:0000160	83.77	gold quality
colonic epithelium	UBERON:0000397	83.13	gold quality
cortex of kidney	UBERON:0001225	82.84	gold quality
large intestine	UBERON:0000059	80.87	gold quality
colon	UBERON:0001155	80.63	gold quality
gall bladder	UBERON:0002110	80.52	gold quality
jejunum	UBERON:0002115	80.47	gold quality
metanephros cortex	UBERON:0010533	77.24	gold quality
vermiform appendix	UBERON:0001154	76.73	gold quality
adult organism	UBERON:0007023	75.42	gold quality
caecum	UBERON:0001153	74.76	gold quality
metanephros	UBERON:0000081	73.05	gold quality
islet of Langerhans	UBERON:0000006	72.48	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-130473	yes	237.07
E-GEOD-81547	yes	23.03
E-ANND-3	yes	20.25
E-GEOD-125970	yes	14.92

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting SLC39A5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-193A-3P	98.59	66.36	769
HSA-MIR-193B-3P	98.59	66.62	748
HSA-MIR-6887-5P	98.56	68.49	1295
HSA-MIR-6795-5P	98.52	68.51	1277
HSA-MIR-1914-5P	97.83	66.21	807
HSA-MIR-6728-5P	97.79	66.33	891
HSA-MIR-450B-3P	97.56	66.12	512
HSA-MIR-6772-3P	97.04	65.89	784
HSA-MIR-4448	97.04	66.22	752
HSA-MIR-152-5P	96.42	66.59	960
HSA-MIR-3657	96.33	66.29	608
HSA-MIR-1291	96.28	65.89	1224
HSA-MIR-4268	94.45	64.09	819
HSA-MIR-1281	92.96	65.73	260

Literature-anchored findings (GeneRIF, showing 8)

• Zip5 protein is a zinc transporter that localizes to the basolateral surface of polarized cells (PMID:15322118)
• mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2. (PMID:25525168)
• ZIP5 knockdown inhibited the proliferation, migration and invasion of ESCC and suppressed COX2, cyclin D1 and E-cadherin expression, which led to the inhibition of cell progression in esophageal squamous cell carcinoma . (PMID:26133979)
• we found that downregulation of ZIP5 by RNA interference inhibited esophageal cancer growth in vivo, reduced the expression of COX2, and promoted the expression of E-cadherin. (PMID:27458102)
• SLC39A5 promotes lung adenocarcinoma cell proliferation by activating PI3K/AKT signaling. (PMID:34252710)
• Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5. (PMID:34270706)
• SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis. (PMID:34302427)
• Functional characterization of SLC39 family members ZIP5 and ZIP10 in overexpressing HEK293 cells reveals selective copper transport activity. (PMID:36454509)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc39a5	ENSDARG00000079525
mus_musculus	Slc39a5	ENSMUSG00000039878
rattus_norvegicus	Slc39a5	ENSRNOG00000033361
drosophila_melanogaster	Zip71B	FBGN0036461
caenorhabditis_elegans		WBGENE00021936

Paralogs (6): SLC39A14 (ENSG00000104635), SLC39A8 (ENSG00000138821), SLC39A6 (ENSG00000141424), SLC39A4 (ENSG00000147804), SLC39A12 (ENSG00000148482), SLC39A10 (ENSG00000196950)

Protein

Protein identifiers

Zinc transporter ZIP5 — Q6ZMH5 (reviewed: Q6ZMH5)

Alternative names: Solute carrier family 39 member 5, Zrt- and Irt-like protein 5

All UniProt accessions (6): Q6ZMH5, C9JB28, C9JIB2, C9JPS5, C9JPS6, C9JVC6

UniProt curated annotations — full annotation on UniProt →

Function. Uniporter that transports zinc(2+) into polarized cells of enterocytes, pancreatic acinar and endoderm cells across the basolateral membrane and participates, notably, in zinc excretion from the intestine by the uptake of zinc from the blood into the intestine. The transport mechanism is temperature- and concentration-dependent and saturable. In addition, is also a high affinity copper transporter in vitro. Also may regulate glucose-stimulated insulin secretion (GSIS) in islets primarily through the zinc-activated SIRT1-PPARGC1A axis. Could regulate the BMP/TGF-beta (bone morphogenetic protein/transforming growth factor-beta) signaling pathway and modulates extracellular matrix (ECM) proteins of the sclera. Plays a role in eye development.

Subunit / interactions. Homodimer.

Subcellular location. Basolateral cell membrane.

Tissue specificity. Expressed in liver, kidney, pancreas, small intestine, colon, spleen, fetal liver and fetal kidney.

Post-translational modifications. Methylated at His-375 by METTL9. N-Glycosylated.

Disease relevance. Myopia 24, autosomal dominant (MYP24) [MIM:615946] A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the ZIP transporter (TC 2.A.5) family.

RefSeq proteins (2): NP_001128667, NP_775867* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003689	ZIP	Family
IPR050799	ZIP_Transporter	Family

Pfam: PF02535

Catalyzed reactions (Rhea), 1 shown:

• Zn(2+)(in) = Zn(2+)(out) (RHEA:29351)

UniProt features (29 total): topological domain 7, transmembrane region 6, mutagenesis site 5, region of interest 2, modified residue 2, glycosylation site 2, sequence variant 2, signal peptide 1, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
7YF2	X-RAY DIFFRACTION	1.69
7Y9C	X-RAY DIFFRACTION	2.1
9VPQ	X-RAY DIFFRACTION	2.28
7YF4	X-RAY DIFFRACTION	2.75

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZMH5-F1	67.20	0.18

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 336, 375

Glycosylation sites (2): 50, 160

Mutagenesis-validated functional residues (5):

Position	Phenotype
372	reduced binding to mettl9.
373	reduced histidine methylation by mettl9.
374	reduced binding to mettl9.
375	abolished histidine methylation by mettl9.
377	does not affect histidine methylation by mettl9.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-442380	Zinc influx into cells by the SLC39 gene family
R-HSA-382551	Transport of small molecules
R-HSA-425366
R-HSA-425407	SLC-mediated transmembrane transport
R-HSA-425410	Metal ion SLC transporters
R-HSA-435354	Zinc transporters

MSigDB gene sets: 135 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, RNGTGGGC_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_RNA_SPLICING, GOBP_POSITIVE_REGULATION_OF_MRNA_PROCESSING, GOBP_TRANSITION_METAL_ION_TRANSPORT, CERVERA_SDHB_TARGETS_1_DN, HNF1_Q6, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION, GATA1_01, HNF4_DR1_Q3, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_RNA_SPLICING, GOBP_BICARBONATE_TRANSPORT, PPAR_DR1_Q2

GO Biological Process (14): eye development (GO:0001654), zinc ion transport (GO:0006829), intracellular monoatomic cation homeostasis (GO:0030003), BMP signaling pathway (GO:0030509), cellular response to zinc ion starvation (GO:0034224), positive regulation of mRNA splicing, via spliceosome (GO:0048026), neural precursor cell proliferation (GO:0061351), G1 to G0 transition involved in cell differentiation (GO:0070315), zinc ion transmembrane transport (GO:0071577), zinc ion import across plasma membrane (GO:0071578), monoatomic ion transport (GO:0006811), bicarbonate transport (GO:0015701), metal ion transport (GO:0030001), transmembrane transport (GO:0055085)

GO Molecular Function (3): zinc ion transmembrane transporter activity (GO:0005385), monoatomic cation:bicarbonate symporter activity (GO:0140410), metal ion transmembrane transporter activity (GO:0046873)

GO Cellular Component (4): plasma membrane (GO:0005886), basolateral plasma membrane (GO:0016323), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Zinc transporters	1
Transport of small molecules	1
SLC-mediated transmembrane transport	1
Metal ion SLC transporters	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	3
zinc ion transmembrane transport	2
sensory organ development	1
visual system development	1
transition metal ion transport	1
intracellular monoatomic ion homeostasis	1
monoatomic cation homeostasis	1
cellular response to BMP stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
cellular response to starvation	1
response to zinc ion starvation	1
mRNA splicing, via spliceosome	1
positive regulation of RNA splicing	1
regulation of mRNA splicing, via spliceosome	1
positive regulation of mRNA processing	1
cell population proliferation	1
cell differentiation	1
G1 to G0 transition	1
zinc ion transport	1
monoatomic cation transmembrane transport	1
inorganic cation import across plasma membrane	1
monoatomic cation transport	1
cellular process	1
transition metal ion transmembrane transporter activity	1
bicarbonate transmembrane transporter activity	1
solute:monoatomic cation symporter activity	1
monoatomic cation transmembrane transporter activity	1
metal ion transport	1
membrane	1
cell periphery	1
basal plasma membrane	1
plasma membrane region	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

802 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC39A5	SLC39A9	Q9NUM3	767
SLC39A5	SLC39A11	Q8N1S5	766
SLC39A5	SLC30A1	Q9Y6M5	756
SLC39A5	SLC30A5	Q8TAD4	753
SLC39A5	SLC30A7	Q8NEW0	748
SLC39A5	SLC39A1	Q9NY26	747
SLC39A5	SLC30A6	Q6NXT4	743
SLC39A5	SLC30A2	Q9BRI3	737
SLC39A5	SLC30A4	O14863	707
SLC39A5	ZNF644	Q9H582	687
SLC39A5	SLC30A9	Q6PML9	683
SLC39A5	SLC30A10	Q6XR72	673
SLC39A5	SLC30A3	Q99726	666
SLC39A5	SLC39A3	Q9BRY0	656
SLC39A5	SLC39A2	Q9NP94	647

IntAct

5 interactions, top by confidence:

A	B	Type	Score
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
SLC39A5	TMEM223	psi-mi:“MI:0914”(association)	0.530
AXDND1	SRP72	psi-mi:“MI:0914”(association)	0.350

BioGRID (166): CTAGE5 (Affinity Capture-MS), RYK (Affinity Capture-MS), METTL9 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), TMEM55A (Affinity Capture-MS), SCARF2 (Affinity Capture-MS), CYSTM1 (Affinity Capture-MS), SLC39A6 (Affinity Capture-MS), MIA3 (Affinity Capture-MS), PTPRS (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), CDON (Affinity Capture-MS), C3orf33 (Affinity Capture-MS), SLC25A51 (Affinity Capture-MS), LRFN1 (Affinity Capture-MS)

ESM2 similar proteins: A0A061IR73, A2ARS0, A6NE52, A6QPE7, A8MYJ7, A8VU90, C9JTQ0, E1BD59, E5RJM6, O08672, P54777, Q08353, Q0P5G1, Q0V8J4, Q13470, Q13608, Q15653, Q28616, Q2TB02, Q3SWY4, Q3UYR4, Q53GL7, Q58EX7, Q5IJ48, Q5JR98, Q60778, Q62893, Q6EMK4, Q6F5E8, Q6MG64, Q6P7C4, Q6UX07, Q6ZMH5, Q6ZVH7, Q6ZVZ8, Q7RTR2, Q8CDY7, Q8CIE4, Q8K592, Q8NI38

Diamond homologs: A0A6I8PMZ8, A0JPN2, A4IGY6, A5D7L5, L5KLU7, P0DX17, Q08E40, Q1KZG0, Q29175, Q2M1K6, Q31125, Q4V887, Q504Y0, Q5FVQ0, Q5FWH7, Q5R6I6, Q5RFD5, Q5TJF6, Q6L8F3, Q6MGB4, Q6P5W5, Q6PEH9, Q6ZMH5, Q78IQ7, Q8BZH0, Q8C145, Q91W10, Q92504, Q95KA5, Q9C0K1, Q9D856, Q9M647, Q9PUB8, Q9ULF5, Q9V3A4, Q9VSL7, A0A0G2KQY6, A0A3Q7ZPG5, A8WMY3, A8X482

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	2
Uncertain significance	90
Likely benign	19
Benign	7

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1070876	NM_173596.3(SLC39A5):c.931C>T (p.Arg311Ter)	Pathogenic
143992	NM_173596.3(SLC39A5):c.911T>C (p.Met304Thr)	Pathogenic
1285407	NM_173596.3(SLC39A5):c.227dup (p.Gln77fs)	Likely pathogenic
143991	NM_173596.3(SLC39A5):c.141C>G (p.Tyr47Ter)	Likely pathogenic

SpliceAI

1465 predictions. Top by Δscore:

Variant	Effect	Δscore
12:56235697:GCCA:G	donor_gain	1.0000
12:56235701:G:GG	donor_gain	1.0000
12:56234822:A:AG	acceptor_gain	0.9900
12:56234823:G:GG	acceptor_gain	0.9900
12:56235558:A:AG	acceptor_gain	0.9900
12:56235559:G:GG	acceptor_gain	0.9900
12:56236898:T:TA	acceptor_gain	0.9900
12:56237008:CTGGG:C	donor_loss	0.9900
12:56237010:GG:G	donor_gain	0.9900
12:56237011:GG:G	donor_gain	0.9900
12:56237011:GGTAG:G	donor_loss	0.9900
12:56237012:G:GA	donor_loss	0.9900
12:56237013:T:A	donor_loss	0.9900
12:56237203:C:G	donor_gain	0.9900
12:56237234:G:GT	donor_gain	0.9900
12:56237234:G:T	donor_gain	0.9900
12:56237586:A:AG	acceptor_gain	0.9900
12:56237587:G:GG	acceptor_gain	0.9900
12:56232869:GGAT:G	donor_gain	0.9800
12:56232870:GATG:G	donor_gain	0.9800
12:56234995:G:GG	donor_gain	0.9800
12:56235323:GCAT:G	donor_gain	0.9800
12:56235327:G:GG	donor_gain	0.9800
12:56235555:GTCA:G	acceptor_loss	0.9800
12:56235557:CA:C	acceptor_loss	0.9800
12:56235708:A:AG	donor_gain	0.9800
12:56236516:GA:G	donor_gain	0.9800
12:56236903:T:A	acceptor_gain	0.9800
12:56236907:A:AG	acceptor_gain	0.9800
12:56236922:T:A	acceptor_gain	0.9800

AlphaMissense

3371 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:56237314:T:C	F485L	0.995
12:56237316:C:A	F485L	0.995
12:56237316:C:G	F485L	0.995
12:56234894:T:G	F181C	0.994
12:56236939:T:C	F406L	0.991
12:56236941:C:A	F406L	0.991
12:56236941:C:G	F406L	0.991
12:56234824:T:A	C158S	0.990
12:56234825:G:C	C158S	0.990
12:56234894:T:C	F181S	0.990
12:56231456:T:C	L61P	0.989
12:56234854:T:C	F168L	0.989
12:56234856:T:A	F168L	0.989
12:56234856:T:G	F168L	0.989
12:56234915:T:C	L188P	0.989
12:56234918:T:A	L189H	0.989
12:56234843:T:C	L164P	0.988
12:56234905:T:C	C185R	0.988
12:56234941:T:A	C197S	0.988
12:56234942:G:A	C197Y	0.988
12:56234942:G:C	C197S	0.988
12:56236987:T:C	C422R	0.988
12:56234825:G:A	C158Y	0.987
12:56234893:T:C	F181L	0.987
12:56234895:T:A	F181L	0.987
12:56234895:T:G	F181L	0.987
12:56236990:C:G	H423D	0.987
12:56231404:T:C	F44L	0.986
12:56231406:T:A	F44L	0.986
12:56231406:T:G	F44L	0.986

dbSNP variants (sampled 300 via entrez): RS1001080674 (12:56234617 T>C), RS1001142101 (12:56236200 A>G), RS1001285047 (12:56238243 C>T), RS1001347022 (12:56234384 G>A), RS1001938558 (12:56228052 C>T), RS1002443536 (12:56233937 G>A), RS1002551005 (12:56231570 C>G,T), RS1002852913 (12:56238305 C>A), RS1003145212 (12:56232989 T>C), RS1003579630 (12:56232815 C>T), RS1004253608 (12:56230389 C>T), RS1004324991 (12:56233528 A>T), RS1004474671 (12:56230769 G>A), RS1004846301 (12:56234911 G>C), RS1005044246 (12:56228934 T>C)

Disease associations

OMIM: gene MIM:608730 | disease phenotypes: MIM:615946

GenCC curated gene-disease

Disease	Classification	Inheritance
myopia 24, autosomal dominant	Strong	Autosomal dominant

Mondo (1): myopia 24, autosomal dominant (MONDO:0014411)

Orphanet (0):

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0003621	Juvenile onset
HP:0011003	High myopia

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST010002_217	Refractive error	6.000000e-174
GCST011972_23	Height	2.000000e-38
GCST90000025_971	Appendicular lean mass	4.000000e-19

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004980	appendicular lean mass

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 — SLC39 family of metal ion transporters

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	affects expression, decreases expression	3
propionaldehyde	decreases expression	2
butyraldehyde	decreases expression	2
pentanal	decreases expression	2
Acetaminophen	decreases expression	2
Valproic Acid	affects expression, decreases expression	2
Zinc	increases transport, decreases expression	2
methyleugenol	decreases expression	1
bisphenol A	affects expression	1
n-hexanal	decreases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
caprylic aldehyde	decreases expression	1
heptanal	decreases expression	1
Grape Seed Proanthocyanidins	decreases expression	1
4-methyl-N1-(3-phenylpropyl)benzene-1,2-diamine	increases expression, increases reaction, increases phosphorylation, decreases reaction	1
(+)-JQ1 compound	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Diethylhexyl Phthalate	increases reaction, increases phosphorylation, increases cleavage, increases expression, decreases reaction	1
N-Nitrosopyrrolidine	decreases expression	1
Quercetin	affects expression	1
Smoke	decreases expression	1
Cyclosporine	decreases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
beta-Naphthoflavone	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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