SLC36A2

Summary

SLC36A2 (solute carrier family 36 member 2, HGNC:18762) is a protein-coding gene on chromosome 5q33.1, encoding Proton-coupled amino acid transporter 2 (Q495M3). Electrogenic proton/amino acid symporter with a high selectivity for the small side chains amino acids glycine, alanine and proline, where both L- and D-enantiomers are transported.

This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria.

Source: NCBI Gene 153201 — RefSeq curated summary.

At a glance

• Gene–disease (curated): iminoglycinuria (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 188 total
• Phenotypes (HPO): 11
• MANE Select transcript: NM_181776

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18762
Approved symbol	SLC36A2
Name	solute carrier family 36 member 2
Location	5q33.1
Locus type	gene with protein product
Status	Approved
Aliases	PAT2, tramdorin, TRAMD1
Ensembl gene	ENSG00000186335
Ensembl biotype	protein_coding
OMIM	608331
Entrez	153201

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000335244, ENST00000518280, ENST00000518617, ENST00000521967, ENST00000522829, ENST00000523044

RefSeq mRNA: 1 — MANE Select: NM_181776 NM_181776

CCDS: CCDS4315

Canonical transcript exons

ENST00000335244 — 10 exons

Exon	Start	End
ENSE00001335665	151339060	151339144
ENSE00001858092	151314972	151317088
ENSE00003492306	151335329	151335547
ENSE00003530558	151343510	151343598
ENSE00003587301	151344177	151344267
ENSE00003609906	151322046	151322215
ENSE00003625686	151342888	151342983
ENSE00003653949	151325286	151325452
ENSE00003664953	151333224	151333322
ENSE00003844331	151347297	151347559

Expression profiles

Bgee: expression breadth broad, 72 present calls, max score 93.89.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5118 / max 119.4520, expressed in 77 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
64362	0.4119	69
64360	0.0757	16
64361	0.0242	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
quadriceps femoris	UBERON:0001377	93.89	gold quality
skeletal muscle tissue	UBERON:0001134	92.53	gold quality
gastrocnemius	UBERON:0001388	91.70	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.37	gold quality
muscle of leg	UBERON:0001383	90.32	gold quality
adult mammalian kidney	UBERON:0000082	86.27	gold quality
tibial nerve	UBERON:0001323	81.19	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.88	gold quality
muscle tissue	UBERON:0002385	79.87	gold quality
cerebellar vermis	UBERON:0004720	79.14	gold quality
kidney	UBERON:0002113	78.43	gold quality
sural nerve	UBERON:0015488	74.43	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	66.79	gold quality
cortex of kidney	UBERON:0001225	62.59	gold quality
thymus	UBERON:0002370	61.85	silver quality
metanephros cortex	UBERON:0010533	56.65	gold quality
right testis	UBERON:0004534	55.72	gold quality
testis	UBERON:0000473	54.51	gold quality
left testis	UBERON:0004533	52.84	gold quality
apex of heart	UBERON:0002098	51.61	gold quality
heart left ventricle	UBERON:0002084	47.98	gold quality
colonic epithelium	UBERON:0000397	45.85	gold quality
monocyte	CL:0000576	45.12	gold quality
subcutaneous adipose tissue	UBERON:0002190	44.89	gold quality
left coronary artery	UBERON:0001626	44.87	gold quality
leukocyte	CL:0000738	44.61	gold quality
heart	UBERON:0000948	44.45	gold quality
minor salivary gland	UBERON:0001830	43.49	gold quality
bone marrow	UBERON:0002371	43.24	silver quality
urinary bladder	UBERON:0001255	43.05	silver quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	1122.17
E-CURD-119	yes	1041.40
E-ANND-3	yes	5.01
E-MTAB-7303	no	9.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

92 targeting SLC36A2, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-4519	99.48	66.10	859

Literature-anchored findings (GeneRIF, showing 2)

• The amino acid transporter PAT2 and the purinergic receptor P2RX5 are cell surface markers expressed in classical brown and beige adipocytes. (PMID:25080478)
• Identification of Key Biomarkers and Immune Infiltration in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling. (PMID:35092815)

Cross-species orthologs

20 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc38a5b	ENSDARG00000014587
mus_musculus	Slc36a2	ENSMUSG00000020264
rattus_norvegicus	Slc36a2	ENSRNOG00000011892
drosophila_melanogaster	CG16700	FBGN0030816
drosophila_melanogaster	CG4991	FBGN0030817
drosophila_melanogaster	CG13384	FBGN0032036
drosophila_melanogaster	polyph	FBGN0033572
drosophila_melanogaster	VGAT	FBGN0033911
drosophila_melanogaster	acs	FBGN0035300
drosophila_melanogaster	CG7888	FBGN0036116
drosophila_melanogaster	CG32079	FBGN0052079
drosophila_melanogaster	CG32081	FBGN0052081
drosophila_melanogaster	mah	FBGN0285912
caenorhabditis_elegans		WBGENE00006783
caenorhabditis_elegans	slc-36.4	WBGENE00010421
caenorhabditis_elegans	Y18D10A.23	WBGENE00012487
caenorhabditis_elegans		WBGENE00012629
caenorhabditis_elegans		WBGENE00012804
caenorhabditis_elegans		WBGENE00019837
caenorhabditis_elegans		WBGENE00020837

Paralogs (15): SLC38A5 (ENSG00000017483), SLC32A1 (ENSG00000101438), SLC38A7 (ENSG00000103042), SLC38A1 (ENSG00000111371), SLC36A1 (ENSG00000123643), SLC38A2 (ENSG00000134294), SLC38A4 (ENSG00000139209), SLC38A6 (ENSG00000139974), SLC38A10 (ENSG00000157637), SLC38A8 (ENSG00000166558), SLC38A11 (ENSG00000169507), SLC38A9 (ENSG00000177058), SLC36A4 (ENSG00000180773), SLC36A3 (ENSG00000186334), SLC38A3 (ENSG00000188338)

Protein

Protein identifiers

Proton-coupled amino acid transporter 2 — Q495M3 (reviewed: Q495M3)

Alternative names: Solute carrier family 36 member 2, Transmembrane domain rich protein 1

All UniProt accessions (4): E5RGH8, E5RJJ5, Q495M3, H0YB43

UniProt curated annotations — full annotation on UniProt →

Function. Electrogenic proton/amino acid symporter with a high selectivity for the small side chains amino acids glycine, alanine and proline, where both L- and D-enantiomers are transported. Extension of the backbone length, as in beta-alanine and 4-aminobutanoate or methylation of the amino group, as in sarcosine and N,N-dimethylglycine, are also tolerated but decrease transport efficiency. A free carboxyl group is preferred.

Subcellular location. Cell membrane. Endoplasmic reticulum membrane. Recycling endosome membrane.

Tissue specificity. Abundantly expressed in kidney and muscle. Expressed in the S1 segment of the proximal tubule close to the glomerulus.

Disease relevance. Hyperglycinuria (HGLY) [MIM:138500] A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. The disease is caused by variants affecting the gene represented in this entry. Iminoglycinuria (IG) [MIM:242600] A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Mutations in SLC36A2 that retain residual transport activity result in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional polymorphisms and mutations in SLC6A18 can contribute to iminoglycinuria in some families.

Similarity. Belongs to the amino acid/polyamine transporter 2 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q495M3-1	1	yes
Q495M3-2	2
Q495M3-3	3

RefSeq proteins (1): NP_861441* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013057	AA_transpt_TM	Domain

Pfam: PF01490

Catalyzed reactions (Rhea), 12 shown:

• L-serine(in) + H(+)(in) = L-serine(out) + H(+)(out) (RHEA:28887)
• glycine(in) + H(+)(in) = glycine(out) + H(+)(out) (RHEA:28899)
• D-alanine(in) + H(+)(in) = D-alanine(out) + H(+)(out) (RHEA:28903)
• 4-aminobutanoate(in) + H(+)(in) = 4-aminobutanoate(out) + H(+)(out) (RHEA:28915)
• L-proline(out) + H(+)(out) = L-proline(in) + H(+)(in) (RHEA:28963)
• L-alanine(in) + H(+)(in) = L-alanine(out) + H(+)(out) (RHEA:29443)
• beta-alanine(in) + H(+)(in) = beta-alanine(out) + H(+)(out) (RHEA:29459)
• D-proline(out) + H(+)(out) = D-proline(in) + H(+)(in) (RHEA:70643)
• D-serine(out) + H(+)(out) = D-serine(in) + H(+)(in) (RHEA:70647)
• sarcosine(in) + H(+)(in) = sarcosine(out) + H(+)(out) (RHEA:70655)
• N,N-dimethylglycine(in) + H(+)(in) = N,N-dimethylglycine(out) + H(+)(out) (RHEA:70659)
• 4-hydroxy-L-proline(in) + H(+)(in) = 4-hydroxy-L-proline(out) + H(+)(out) (RHEA:70663)

UniProt features (35 total): topological domain 12, transmembrane region 11, sequence conflict 4, splice variant 3, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q495M3-F1	84.33	0.67

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-352230	Amino acid transport across the plasma membrane
R-HSA-428559	Proton-coupled neutral amino acid transporters
R-HSA-5619041	Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)
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: 137 (showing top): GOCC_VACUOLAR_MEMBRANE, RACCACAR_AML_Q6, FOXO4_01, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GATA3_01, GOBP_AMINO_ACID_TRANSPORT, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_ORGANIC_ANION_TRANSPORT, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_ORGANIC_CATION_TRANSPORT, GATA1_02, GOBP_NEUTRAL_AMINO_ACID_TRANSPORT, P53_DECAMER_Q2

GO Biological Process (7): monoatomic ion transport (GO:0006811), amino acid transport (GO:0006865), L-alanine transport (GO:0015808), glycine transport (GO:0015816), proline transport (GO:0015824), proline transmembrane transport (GO:0035524), proton transmembrane transport (GO:1902600)

GO Molecular Function (6): amino acid:proton symporter activity (GO:0005280), proline:proton symporter activity (GO:0005297), amino acid transmembrane transporter activity (GO:0015171), L-alanine transmembrane transporter activity (GO:0015180), glycine transmembrane transporter activity (GO:0015187), L-proline transmembrane transporter activity (GO:0015193)

GO Cellular Component (8): vacuolar membrane (GO:0005774), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), endosome (GO:0005768), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
SLC-mediated transport of amino acids	2
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
transport	2
L-amino acid transport	2
neutral amino acid transport	2
nitrogen compound transport	2
amino acid transmembrane transport	2
carboxylic acid transmembrane transporter activity	2
L-amino acid transmembrane transporter activity	2
neutral L-amino acid transmembrane transporter activity	2
endomembrane system	2
alanine transport	1
carboxylic acid transport	1
carboxylic acid transmembrane transport	1
monoatomic cation transmembrane transport	1
amino acid:monoatomic cation symporter activity	1
solute:proton symporter activity	1
amino acid:proton symporter activity	1
transmembrane transporter activity	1
L-alanine transport	1
alanine transmembrane transporter activity	1
glycine transport	1
proline transmembrane transport	1
vacuole	1
bounding membrane of organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
endosome membrane	1
recycling endosome	1
extracellular vesicle	1
cytoplasmic vesicle	1
cytoplasm	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

870 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC36A2	SLC6A20	Q9NP91	959
SLC36A2	SLC6A18	Q96N87	957
SLC36A2	SLC6A19	Q695T7	956
SLC36A2	SLC6A16	Q9GZN6	731
SLC36A2	P2RX5	Q93086	627
SLC36A2	TMEM26	Q6ZUK4	575
SLC36A2	SLC38A2	Q96QD8	527
SLC36A2	SLC1A5	Q15758	519
SLC36A2	SLC13A2	Q13183	492
SLC36A2	SLC44A3	Q8N4M1	489
SLC36A2	SLC7A10	Q9NS82	487
SLC36A2	XYLT2	Q9H1B5	468
SLC36A2	UCP1	P25874	445
SLC36A2	SLC36A3	Q495N2	439
SLC36A2	SLC7A8	Q9UHI5	434

IntAct

4 interactions, top by confidence:

A	B	Type	Score
SLC36A2	PCNA	psi-mi:“MI:0915”(physical association)	0.370
SLC36A2	ATP5F1B	psi-mi:“MI:0914”(association)	0.350
	SLC36A2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): ADPGK (Affinity Capture-MS), ATP5B (Affinity Capture-MS), ATP5I (Affinity Capture-MS), ATP5O (Affinity Capture-MS), CANX (Affinity Capture-MS), LGALS3 (Affinity Capture-MS), RPA3 (Affinity Capture-MS), RPL11 (Affinity Capture-MS), RPL23A (Affinity Capture-MS), RPL27 (Affinity Capture-MS), RPL7A (Affinity Capture-MS), RPS20 (Affinity Capture-MS), RPS25 (Affinity Capture-MS), SLC36A2 (Affinity Capture-MS)

ESM2 similar proteins: A0A6P3HVI0, A0FKN5, A2VDL4, O04289, O14520, O35874, O43511, O70247, O70531, P24942, P33124, P40879, P43003, P43007, P46411, P50443, P53392, P56564, P63115, P63116, P92943, Q495M3, Q5BKR2, Q5R6B8, Q5U4D8, Q60414, Q62273, Q65AC2, Q69DJ1, Q7T2C4, Q86UD5, Q8BHK3, Q8CIW6, Q8K415, Q8WWT9, Q91WC3, Q924C9, Q9BEG8, Q9BXS9, Q9GJY3

Diamond homologs: Q495M3, Q495N2, Q4KL91, Q4V8B1, Q6YBV0, Q7Z2H8, Q811P0, Q8BHK3, Q8CH36, Q8K415, Q8K4D3, Q924A5, Q9VT04, Q9W056, P50944, Q9SVG0, Q9LXF8, F4ILY9, F4J1Q9, Q4V5R4

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
SLC36A2	“up-regulates quantity”	glycine	relocalization
SLC36A2	“up-regulates quantity”	alanine	relocalization
SLC36A2	“up-regulates quantity”	proline	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	95
Likely benign	40
Benign	37

Top pathogenic / likely-pathogenic (0)

SpliceAI

1625 predictions. Top by Δscore:

Variant	Effect	Δscore
5:151322044:A:AC	donor_gain	1.0000
5:151322045:C:CC	donor_gain	1.0000
5:151322045:CATGT:C	donor_gain	1.0000
5:151335325:TCACC:T	donor_loss	1.0000
5:151335326:CACC:C	donor_loss	1.0000
5:151335327:A:AC	donor_gain	1.0000
5:151335327:AC:A	donor_gain	1.0000
5:151335328:C:CG	donor_loss	1.0000
5:151335328:C:CT	donor_gain	1.0000
5:151335328:CC:C	donor_gain	1.0000
5:151335328:CCT:C	donor_gain	1.0000
5:151335328:CCTG:C	donor_gain	1.0000
5:151335328:CCTGG:C	donor_gain	1.0000
5:151335544:CTAC:C	acceptor_gain	1.0000
5:151335545:TAC:T	acceptor_gain	1.0000
5:151335545:TACC:T	acceptor_loss	1.0000
5:151335546:AC:A	acceptor_gain	1.0000
5:151335547:CC:C	acceptor_gain	1.0000
5:151335559:A:AC	acceptor_gain	1.0000
5:151335559:A:C	acceptor_gain	1.0000
5:151342890:T:A	donor_gain	1.0000
5:151342891:C:A	donor_gain	1.0000
5:151344175:A:AC	donor_gain	1.0000
5:151344176:C:CC	donor_gain	1.0000
5:151344263:ACACT:A	acceptor_gain	1.0000
5:151344264:CACT:C	acceptor_gain	1.0000
5:151344264:CACTC:C	acceptor_gain	1.0000
5:151344266:CT:C	acceptor_gain	1.0000
5:151344268:C:CC	acceptor_gain	1.0000
5:151347291:ACTC:A	donor_loss	1.0000

AlphaMissense

3153 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:151335359:G:C	S238R	0.995
5:151335359:G:T	S238R	0.995
5:151335361:T:G	S238R	0.995
5:151343584:A:C	S90R	0.991
5:151343584:A:T	S90R	0.991
5:151343586:T:G	S90R	0.991
5:151316925:G:C	S448R	0.986
5:151316925:G:T	S448R	0.986
5:151316927:T:G	S448R	0.986
5:151333233:G:C	S278R	0.984
5:151333233:G:T	S278R	0.984
5:151333235:T:G	S278R	0.984
5:151316918:C:G	G451R	0.982
5:151325312:G:C	S328R	0.982
5:151325312:G:T	S328R	0.982
5:151325314:T:G	S328R	0.982
5:151325333:A:C	F321L	0.980
5:151325333:A:T	F321L	0.980
5:151325335:A:G	F321L	0.980
5:151339081:A:C	F168L	0.980
5:151339081:A:T	F168L	0.980
5:151339083:A:G	F168L	0.980
5:151316917:C:T	G451D	0.979
5:151325310:A:T	I329K	0.979
5:151344199:G:T	A78D	0.979
5:151325306:G:C	S330R	0.978
5:151325306:G:T	S330R	0.978
5:151325308:T:G	S330R	0.978
5:151317027:A:C	S414R	0.976
5:151317027:A:T	S414R	0.976

dbSNP variants (sampled 300 via entrez): RS1000035131 (5:151326987 A>G), RS1000088706 (5:151327239 C>G), RS1000098602 (5:151337271 C>T), RS1000175827 (5:151321454 G>A), RS1000251752 (5:151320718 G>A,C,T), RS1000266965 (5:151314993 C>T), RS1000295966 (5:151343160 C>T), RS1000357463 (5:151345270 T>C), RS1000379546 (5:151348365 G>C), RS1000410879 (5:151348830 T>C), RS1000412268 (5:151339467 C>A,T), RS1000681427 (5:151316531 G>A), RS1000753407 (5:151347595 C>T), RS1000880018 (5:151331484 TA>T,TAA), RS1000911186 (5:151319902 C>G,T)

Disease associations

OMIM: gene MIM:608331 | disease phenotypes: MIM:138500, MIM:242600

GenCC curated gene-disease

Disease	Classification	Inheritance
iminoglycinuria	Supportive	Autosomal recessive
hyperglycinuria	Limited	Semidominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
iminoglycinuria	Limited	AR

Mondo (2): hyperglycinuria (MONDO:0007677), iminoglycinuria (MONDO:0009448)

Orphanet (1): Iminoglycinuria (Orphanet:42062)

HPO phenotypes

11 total (11 of 11 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000478	Abnormality of the eye
HP:0001249	Intellectual disability
HP:0002154	Hyperglycinemia
HP:0003080	Hydroxyprolinuria
HP:0003108	Hyperglycinuria
HP:0003137	Prolinuria
HP:0003260	Hydroxyprolinemia
HP:0008358	Hyperprolinemia
HP:0008672	Calcium oxalate nephrolithiasis

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004131_47	Inflammatory bowel disease	3.000000e-15
GCST004132_24	Crohn’s disease	2.000000e-19
GCST004574_8	Skin aging (microtopography measurement)	5.000000e-06

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C563009	Glycinuria with or without Oxalate Urolithiasis (supp.)
C536285	Iminoglycinuria (supp.)

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 — SLC36 family of proton-coupled amino acid transporters

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
5-hydroxy-L-tryptophan	Inhibition	2.8	pIC50
α-methyl-D,L-tryptophan	Inhibition	2.5	pIC50

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, affects methylation	2
benzo(e)pyrene	decreases methylation	1
ferrous chloride	increases expression	1
aflatoxin B2	decreases methylation	1
jinfukang	affects cotreatment, increases expression	1
Cisplatin	increases expression, affects cotreatment	1
Methapyrilene	decreases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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