SRR

Summary

SRR (serine racemase, HGNC:14398) is a protein-coding gene on chromosome 17p13.3, encoding Serine racemase (Q9GZT4). Catalyzes the synthesis of D-serine from L-serine.

Enables several functions, including L-serine ammonia-lyase activity; PDZ domain binding activity; and heterocyclic compound binding activity. Involved in carboxylic acid metabolic process and response to lipopolysaccharide. Located in cytoplasm and neuronal cell body.

Source: NCBI Gene 63826 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 74 total
• Druggable target: yes
• MANE Select transcript: NM_021947

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14398
Approved symbol	SRR
Name	serine racemase
Location	17p13.3
Locus type	gene with protein product
Status	Approved
Aliases	ILV1, ISO1
Ensembl gene	ENSG00000167720
Ensembl biotype	protein_coding
OMIM	606477
Entrez	63826

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 12 protein_coding

ENST00000344595, ENST00000570662, ENST00000572709, ENST00000574229, ENST00000574987, ENST00000575840, ENST00000576620, ENST00000576848, ENST00000909632, ENST00000909633, ENST00000909634, ENST00000947746

RefSeq mRNA: 2 — MANE Select: NM_021947 NM_001304803, NM_021947

CCDS: CCDS11017

Canonical transcript exons

ENST00000344595 — 8 exons

Exon	Start	End
ENSE00001116099	2321542	2321616
ENSE00001307230	2315557	2315728
ENSE00001389547	2323655	2325260
ENSE00002650326	2303950	2304017
ENSE00003500795	2318826	2318929
ENSE00003560780	2321306	2321425
ENSE00003579262	2323136	2323345
ENSE00003644710	2317870	2317996

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 91.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1487 / max 69.8281, expressed in 1698 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158806	6.1487	1698

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	91.38	gold quality
ventricular zone	UBERON:0003053	91.37	gold quality
cortical plate	UBERON:0005343	91.31	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.69	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.23	gold quality
mucosa of stomach	UBERON:0001199	85.86	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.63	gold quality
gastrocnemius	UBERON:0001388	85.34	gold quality
muscle of leg	UBERON:0001383	85.15	gold quality
islet of Langerhans	UBERON:0000006	85.07	gold quality
stromal cell of endometrium	CL:0002255	85.01	gold quality
hair follicle	UBERON:0002073	83.87	silver quality
prefrontal cortex	UBERON:0000451	83.54	gold quality
lower esophagus	UBERON:0013473	83.23	gold quality
lower esophagus muscularis layer	UBERON:0035833	83.23	gold quality
skin of leg	UBERON:0001511	82.84	gold quality
muscle organ	UBERON:0001630	82.68	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.67	gold quality
skin of abdomen	UBERON:0001416	82.61	gold quality
ectocervix	UBERON:0012249	82.58	gold quality
right coronary artery	UBERON:0001625	82.27	gold quality
muscle layer of sigmoid colon	UBERON:0035805	82.27	gold quality
amygdala	UBERON:0001876	82.19	gold quality
left uterine tube	UBERON:0001303	82.16	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.07	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	82.01	gold quality
right adrenal gland cortex	UBERON:0035827	82.00	gold quality
esophagus	UBERON:0001043	81.95	gold quality
left adrenal gland cortex	UBERON:0035825	81.95	gold quality
left adrenal gland	UBERON:0001234	81.86	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.30
E-MTAB-6142	no	311.83

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOS

miRNA regulators (miRDB)

76 targeting SRR, 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-6759-5P	99.99	66.54	785
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-4502	99.65	66.99	1021
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-4696	99.48	67.48	1040
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-128-1-5P	99.33	60.46	332
HSA-MIR-128-2-5P	99.33	60.83	311
HSA-MIR-6739-3P	99.22	68.84	1843
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-3940-5P	99.14	65.26	493
HSA-MIR-4507	99.14	65.27	515

Literature-anchored findings (GeneRIF, showing 36)

• Data report on the isolation of a cDNA encoding a human serine racemase (SRR) from a human neuronal like cell line. (PMID:15193426)
• D-serine is synthesized in human placenta by the racemization of L-serine by serine racemase. (PMID:15219883)
• serine racemase catalyzes the degradation of cellular D-serine itself, through the alpha,beta-elimination of water (PMID:15536068)
• The frequency of the genotypes showed that 5’-G/C serine racemase is not a major risk factor for schizophrenia. (PMID:16446740)
• Expression of serine racemaseusing Western blot analysis in postmortem hippocampus and cortex in schizophrenia and a comparison group. (PMID:16837850)
• Not associated with schizophrenia in a Gefman case-control study. (PMID:17413455)
• Not associated with bipolar disorder in a German case-control study. (PMID:17413456)
• observed activation of serine racemase by divalent cations has been assumed to be a side-effect associated with ATP binding, which is known to form a complex with Mg(2+) ions (PMID:17697119)
• serine racemase and D-amino acid oxidase are expressed in human brain and demonstrate aberrant D-serine metabolism in schizophrenia (PMID:17880399)
• Analysis of SRR genetic variants in humans identified a robust association with schizophrenia. (PMID:19483194)
• The structure of mammalian serine racemase: evidence for conformational changes upon inhibitor binding (PMID:20106978)
• The SRR mRNA is elevated in people death with suicide. (PMID:20385472)
• Six SNP(rs7754840 in CDKAL1, rs391300 in SRR, rs2383208 in CDKN2A/2B, rs4402960 in IGF2BP2, rs10830963 in MTNR1B, rs4607517 in GCK)risk alleles of type 2 diabetes were associated with GDM in pregnant Chinese women. (PMID:22096510)
• Serine racemase and D-serine are involved in both pre-symptomatic and progressive phases of amyotrophic lateral sclerosis, demonstrating a link between mutant superoxide dismutase (SOD)1 and a glial-derived toxic mediator in transgenic mice. (PMID:22117694)
• The structural characteristics of SR obtained from live cells suggest that SR is sensitive to oxidation in vivo, perhaps consistent with a scenario in which such modification plays a role in feedback or other forms of regulation. (PMID:22151352)
• S84A serine racemase mutant behaved like serine dehydratase, whereas A65S serine dehydratase mutant acquired an additional function of using D-serine as a substrate. (PMID:23112234)
• cross-talk between allosteric and active sites, leading to the stabilization of two alternative protein conformations with ATP affinities of ~ 10 muM and 1.8 mm (PMID:23992455)
• Serine racemase activity and dynamics are regulated by halides, ATP and malonate. (PMID:25331425)
• FBXO22 protein is required for optimal synthesis of NMDA receptor coagonist D-serine by interacting with serine racemase, activating it, and preventing its targeting to membranes. (PMID:25336657)
• In serine racemase, similarly to the related enzyme alanine racemase, the unprotonated pyridoxal-5’-phosphate -substrate intermediate is stabilized mostly due to solvation effects contributed by water molecules and active-site residues. (PMID:25493718)
• Loss-of-function mutation of the gene encoding serine racemase significantly attenuates excitotoxicity in retina. (PMID:26485193)
• MiR-193a-3p and miR-193a-5p play important roles in osteosarcoma metastasis through down-regulation of the Rab27B and SRR genes and therefore may serve as useful biomarkers for the diagnosis of osteosarcoma (PMID:26913720)
• Study found an inverse association between the genetic risk off schizophrenia based on 108 genome-wide significantly associated SNPs and the prevalence for treated migraine in a general population sample. This association was primary linked to SNPs associated with genes encoding proteins involved in glutamatergic neurotransmission and could be attributed to the single intronic variant rs4523957 in SRR. (PMID:27394076)
• Magnesium and calcium ions differentially affect human serine racemase activity and modulate its quaternary equilibrium toward a tetrameric form (PMID:28089597)
• SRR was identified as a type 2 diabetes susceptibility gene. SRR plays a role in insulin secretion in vitro. (PMID:28580277)
• Data suggest that Ser-84 and Arg-135 are important in catalysis and substrate specificity of SRR. (PMID:28696262)
• SRR single nucleotide polymorphism, rs4523957, is associated with posttraumatic stress disorder. (PMID:29025687)
• rs391300 SNP, located on the serine racemase (SRR) gene and linked to increased susceptibility to type 2 diabetes, was associated with progression from mild cognitive impairment to probable Alzheimer’s disease. (PMID:29338921)
• SRR intronic variation inhibits expression of its neighboring SMG6 gene and protects against temporal lobe epilepsy. (PMID:29363864)
• these findings suggest that d-serine expressed particularly strongly in atopic dermatitis lesional skin and that the Serine racemase (SR) expression in the keratinocytes is linked to inflammatory cytokines. (PMID:29566294)
• Results indicate glutamine 89 (Q89) as a key residue for the allosteric communication, since its mutation is linked to the loss of control of activity by nucleotides. (PMID:29899358)
• Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients. (PMID:31621607)
• Human serine racemase is inhibited by glyceraldehyde 3-phosphate, but not by glyceraldehyde 3-phosphate dehydrogenase. (PMID:32971286)
• The allosteric interplay between S-nitrosylation and glycine binding controls the activity of human serine racemase. (PMID:33249721)
• qPCR Analysis Reveals Association of Differential Expression of SRR, NFKB1, and PDE4B Genes With Type 2 Diabetes Mellitus. (PMID:35046895)
• The Prognostic Role of Serine Racemase in Patients With Pancreatic Cancer: A New Marker in Cancer Metabolism. (PMID:37523600)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Srr	ENSMUSG00000001323
rattus_norvegicus	Srr	ENSRNOG00000002991
caenorhabditis_elegans	serr-1	WBGENE00011353

Paralogs (5): SDS (ENSG00000135094), SDSL (ENSG00000139410), THNSL2 (ENSG00000144115), CBS (ENSG00000160200), THNSL1 (ENSG00000185875)

Protein

Protein identifiers

Serine racemase — Q9GZT4 (reviewed: Q9GZT4)

Alternative names: D-serine ammonia-lyase, D-serine dehydratase, L-serine ammonia-lyase, L-serine dehydratase

All UniProt accessions (7): Q9GZT4, I3L3N0, I3L4B4, I3L4L3, I3L4W4, Q3ZK31, V9GYE8

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the synthesis of D-serine from L-serine. D-serine is a key coagonist with glutamate at NMDA receptors. Has dehydratase activity towards both L-serine and D-serine.

Subunit / interactions. Homodimer.

Tissue specificity. Expressed in the cerebellum, hippocampus, dorsolateral prefrontal cortex, and in motor neurons and glial cells of the lumbar spinal cord (at protein level). Increased in the dorsolateral prefrontal cortex of schizophrenic patients (at protein level). Brain: expressed at high levels in hippocampus and corpus callosum, intermediate levels in substantia nigra and caudate, and low levels in amygdala, thalamus, and subthalamic nuclei. Expressed in heart, skeletal muscle, kidney, and liver.

Post-translational modifications. S-nitrosylated, leading to decrease the enzyme activity.

Activity regulation. Allosterically activated by magnesium, and possibly also other divalent metal cations. Allosterically activated by ATP, ADP or GTP. Competitively inhibited by malonate. Inhibited by meso-tartrate and malonate.

Similarity. Belongs to the serine/threonine dehydratase family.

RefSeq proteins (2): NP_001291732, NP_068766* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000634	Ser/Thr_deHydtase_PyrdxlP-BS	Binding_site
IPR001926	TrpB-like_PALP	Domain
IPR036052	TrpB-like_PALP_sf	Homologous_superfamily

Pfam: PF00291

Enzyme classification (BRENDA):

• EC 5.1.1.18 — serine racemase (BRENDA: 29 organisms, 155 substrates, 155 inhibitors, 116 Km, 88 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
L-SERINE	1.8–185	57
D-SERINE	3.2–252	41
L-ALANINE	111	1
L-SERINE O-SULFATE	0.49	1

Catalyzed reactions (Rhea), 3 shown:

• L-serine = D-serine (RHEA:10980)
• D-serine = pyruvate + NH4(+) (RHEA:13977)
• L-serine = pyruvate + NH4(+) (RHEA:19169)

UniProt features (66 total): binding site 32, helix 19, strand 10, active site 2, modified residue 2, chain 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
3L6B	X-RAY DIFFRACTION	1.5
7NBG	X-RAY DIFFRACTION	1.53
6ZSP	X-RAY DIFFRACTION	1.6
7NBF	X-RAY DIFFRACTION	1.6
3L6R	X-RAY DIFFRACTION	1.7
7NBC	X-RAY DIFFRACTION	1.71
7NBH	X-RAY DIFFRACTION	1.77
6ZUJ	X-RAY DIFFRACTION	1.8
5X2L	X-RAY DIFFRACTION	1.81
7NBD	X-RAY DIFFRACTION	1.86
6SLH	X-RAY DIFFRACTION	1.89

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9GZT4-F1	93.95	0.88

Functional residue map

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

Catalytic / active sites (2): 56 (proton acceptor); 84 (proton acceptor)

Ligand- & substrate-binding residues (32): 81; 86; 89; 121; 154; 178; 185; 186; 187; 188; 189; 210 …

Post-translational modifications (2): 56, 113

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-977347	Serine metabolism
R-HSA-1430728	Metabolism
R-HSA-71291	Metabolism of amino acids and derivatives

MSigDB gene sets: 166 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, TGCGCANK_UNKNOWN, AAGTCCA_MIR422B_MIR422A, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_AMINO_ACID_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, SP1_Q2_01, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, AAACCAC_MIR140, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4

GO Biological Process (9): L-serine metabolic process (GO:0006563), obsolete serine family amino acid metabolic process (GO:0009069), response to xenobiotic stimulus (GO:0009410), response to lipopolysaccharide (GO:0032496), pyruvate biosynthetic process (GO:0042866), obsolete D-serine metabolic process (GO:0070178), D-serine biosynthetic process (GO:0070179), response to ketamine (GO:1901986), amino acid metabolic process (GO:0006520)

GO Molecular Function (18): magnesium ion binding (GO:0000287), L-serine ammonia-lyase activity (GO:0003941), calcium ion binding (GO:0005509), ATP binding (GO:0005524), D-serine ammonia-lyase activity (GO:0008721), glycine binding (GO:0016594), threonine racemase activity (GO:0018114), PDZ domain binding (GO:0030165), pyridoxal phosphate binding (GO:0030170), serine racemase activity (GO:0030378), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), nucleotide binding (GO:0000166), catalytic activity (GO:0003824), protein binding (GO:0005515), lyase activity (GO:0016829), isomerase activity (GO:0016853), metal ion binding (GO:0046872)

GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), neuronal cell body (GO:0043025), apical part of cell (GO:0045177)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of amino acids and derivatives	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
metal ion binding	2
ammonia-lyase activity	2
cation binding	2
amino-acid racemase activity	2
catalytic activity	2
L-amino acid metabolic process	1
proteinogenic amino acid metabolic process	1
response to chemical	1
response to molecule of bacterial origin	1
response to lipid	1
response to oxygen-containing compound	1
pyruvate metabolic process	1
monocarboxylic acid biosynthetic process	1
D-amino acid biosynthetic process	1
response to ketone	1
response to nitrogen compound	1
primary metabolic process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
amino acid binding	1
carboxylic acid binding	1
protein domain specific binding	1
anion binding	1
vitamin B6 binding	1
protein binding	1
identical protein binding	1
protein dimerization activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
somatodendritic compartment	1
cell body	1

Protein interactions and networks

STRING

1510 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SRR	PICK1	Q9NRD5	918
SRR	DAO	P14920	899
SRR	DISC1	Q9NRI5	812
SRR	PRLR	P16471	687
SRR	KRT4	P19013	665
SRR	DDO	Q99489	642
SRR	DLG4	P78352	640
SRR	TTR	P02766	636
SRR	GRIN2A	Q12879	515
SRR	GRIN2B	Q13224	506
SRR	PSPH	P78330	495
SRR	GOT1L1	Q8NHS2	479
SRR	DAOA	P59103	477
SRR	GRIN1	P35437	459
SRR	SHMT1	P34896	438

IntAct

28 interactions, top by confidence:

A	B	Type	Score
SRR	RNF41	psi-mi:“MI:0915”(physical association)	0.670
SRR	SRR	psi-mi:“MI:0915”(physical association)	0.560
SPACA1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
TNFSF8	LGALS8	psi-mi:“MI:0914”(association)	0.530
NRBP1	TBC1D4	psi-mi:“MI:0914”(association)	0.530
AKT1	SRR	psi-mi:“MI:0915”(physical association)	0.370
	PGRMC1	psi-mi:“MI:0914”(association)	0.350
K14	MAP2K7	psi-mi:“MI:0914”(association)	0.350
OXNAD1	DENR	psi-mi:“MI:0914”(association)	0.350
FCHO1	AP2A2	psi-mi:“MI:0914”(association)	0.350
RNF41	SHTN1	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
FNDC8	ZNF609	psi-mi:“MI:0914”(association)	0.350
BRICD5	PODXL	psi-mi:“MI:0914”(association)	0.350
CD80	RIMOC1	psi-mi:“MI:0914”(association)	0.350
RAMP3	TMEM223	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350
SRR	RNF41	psi-mi:“MI:0915”(physical association)	0.000
SRR	SRR	psi-mi:“MI:0915”(physical association)	0.000
RNF41	SRR	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (38): FBXO22 (Reconstituted Complex), FBXO22 (Affinity Capture-Western), SRR (Affinity Capture-MS), SRR (Two-hybrid), SRR (Affinity Capture-MS), SRR (Affinity Capture-MS), SRR (Affinity Capture-MS), SRR (Affinity Capture-MS), SRR (Affinity Capture-MS), SRR (Two-hybrid), RNF41 (Two-hybrid), SRR (Affinity Capture-MS), SRR (Affinity Capture-MS), SRR (Affinity Capture-MS), SRR (Affinity Capture-MS)

ESM2 similar proteins: A0JNI4, A1B8Z2, A2XWA9, A6ZVB1, B3LU13, B5VKE8, C7M8J5, C8ZAU6, O23733, O23735, O59701, P0A1E3, P0A1E4, P0ABK5, P0ABK6, P0AGF6, P0AGF7, P0AGF8, P0AGF9, P0CF23, P11954, P36007, P38076, P46794, P50867, P80608, Q2FH01, Q2FYJ3, Q2PGG3, Q2YY67, Q43153, Q54HH2, Q5HFY5, Q5XAQ3, Q6G9C4, Q6GGX0, Q76EQ0, Q76MX2, Q7A5L8, Q7RYW6

Diamond homologs: A0A6N3IN21, A0FKE6, A0R220, A1B8Z2, A2XWA9, A4F2N8, O28672, O42615, O57809, O59791, O68905, O94634, P00927, P04968, P09367, P0AGF6, P0AGF7, P0AGF8, P0AGF9, P0CF21, P11954, P20132, P20506, P25306, P31212, P36007, P37946, P45837, P46493, P53206, P53607, P55664, P66898, P66903, P9WG58, P9WG59, P9WG94, P9WG95, Q02145, Q04513

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SRR	“up-regulates quantity”	pyruvate	“chemical modification”
SRR	“up-regulates quantity”	D-serine	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	59
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1792 predictions. Top by Δscore:

Variant	Effect	Δscore
17:2303628:CTCA:C	donor_loss	1.0000
17:2303629:TCA:T	donor_loss	1.0000
17:2303630:CA:C	donor_loss	1.0000
17:2303631:A:AC	donor_gain	1.0000
17:2303632:C:CC	donor_gain	1.0000
17:2303632:C:CT	donor_loss	1.0000
17:2303632:CCT:C	donor_gain	1.0000
17:2315548:G:A	acceptor_gain	1.0000
17:2317864:TTTCA:T	acceptor_loss	1.0000
17:2317865:TTCAG:T	acceptor_loss	1.0000
17:2317867:CAGAT:C	acceptor_loss	1.0000
17:2317868:A:AG	acceptor_gain	1.0000
17:2317868:A:C	acceptor_loss	1.0000
17:2317869:G:GA	acceptor_gain	1.0000
17:2317869:GA:G	acceptor_gain	1.0000
17:2317869:GATT:G	acceptor_gain	1.0000
17:2317869:GATTC:G	acceptor_gain	1.0000
17:2317923:G:GT	donor_gain	1.0000
17:2317993:G:GT	donor_gain	1.0000
17:2317994:A:T	donor_gain	1.0000
17:2318822:CCA:C	acceptor_loss	1.0000
17:2318823:CAGG:C	acceptor_loss	1.0000
17:2318824:A:AG	acceptor_gain	1.0000
17:2318824:A:T	acceptor_loss	1.0000
17:2318825:G:GC	acceptor_loss	1.0000
17:2318825:G:GG	acceptor_gain	1.0000
17:2318825:GGA:G	acceptor_gain	1.0000
17:2318927:GAG:G	donor_gain	1.0000
17:2318928:AGG:A	donor_loss	1.0000
17:2318930:G:GG	donor_gain	1.0000

AlphaMissense

2208 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:2315695:A:C	K45N	0.996
17:2315695:A:T	K45N	0.996
17:2315723:T:C	F55L	0.996
17:2315725:T:A	F55L	0.996
17:2315725:T:G	F55L	0.996
17:2315728:G:C	K56N	0.996
17:2315728:G:T	K56N	0.996
17:2317959:C:A	N86K	0.996
17:2317959:C:G	N86K	0.996
17:2318872:A:C	K114N	0.996
17:2318872:A:T	K114N	0.996
17:2317873:C:A	R58S	0.995
17:2317937:T:A	V79D	0.994
17:2317948:A:C	S83R	0.994
17:2317950:C:A	S83R	0.994
17:2317950:C:G	S83R	0.994
17:2318871:A:T	K114I	0.994
17:2315651:A:C	S31R	0.993
17:2315653:C:A	S31R	0.993
17:2315653:C:G	S31R	0.993
17:2317964:G:A	G88D	0.993
17:2317985:C:A	A95D	0.993
17:2321396:G:T	G164W	0.993
17:2315693:A:G	K45E	0.992
17:2315727:A:C	K56T	0.992
17:2323787:A:C	S313R	0.992
17:2323789:T:A	S313R	0.992
17:2323789:T:G	S313R	0.992
17:2317877:G:A	G59D	0.991
17:2317940:T:A	V80D	0.991

dbSNP variants (sampled 300 via entrez): RS1000166151 (17:2307520 T>C,G), RS1000180220 (17:2317729 A>G), RS1000210601 (17:2322271 G>GT), RS1000424070 (17:2318084 G>A), RS1000447548 (17:2320059 C>T), RS1000452587 (17:2311231 G>A,C), RS1000566864 (17:2325696 T>A), RS1000579269 (17:2322655 C>T), RS1000762792 (17:2311617 G>C), RS1001362270 (17:2320945 A>C), RS1001451439 (17:2302976 T>A), RS1001788386 (17:2301913 G>A), RS1001789077 (17:2306722 TAAAAC>T), RS1001925562 (17:2301702 C>T), RS1001967470 (17:2312567 C>A)

Disease associations

OMIM: gene MIM:606477 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000442_1	Aortic root size	2.000000e-11
GCST000601_3	Type 2 diabetes	3.000000e-09
GCST000998_4	Coronary heart disease	1.000000e-09
GCST001820_9	Metabolite levels (5-HIAA)	3.000000e-06
GCST002539_85	Schizophrenia	3.000000e-10
GCST004521_272	Autism spectrum disorder or schizophrenia	7.000000e-10
GCST006803_64	Schizophrenia	5.000000e-10
GCST007201_216	Schizophrenia	1.000000e-09
GCST007201_251	Schizophrenia	4.000000e-09
GCST010703_278	Brain morphology (MOSTest)	2.000000e-15

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005132	5-HIAA measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4460 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs391300	SRR		0.00	0

ChEMBL bioactivities

2 potent at pChembl≥5 of 11 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.33	IC50	4700	nM	CHEMBL5611941
5.27	Kd	5400	nM	CHEMBL5611941

PubChem BioAssay actives

2 with measured affinity, of 160 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-aminooxy-3-(4-phenylphenyl)propanoic acid;hydrochloride	2126492: Inhibition of recombinant hexa-His tagged human SR extracted from Escherichia coli BL21 CodonPlusR (DE3)-RIL cells preincubated with compound followed by L-serine addition and measured after 10 mins	ic50	4.7000	uM

CTD chemical–gene interactions

45 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	3
Air Pollutants	increases expression, decreases expression, increases abundance	3
Valproic Acid	affects expression, increases expression	3
Smoke	decreases expression, increases abundance	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
methylmercuric chloride	decreases expression	1
alpha phellandrene	increases expression	1
triphenyl phosphate	affects expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
nickel sulfate	increases expression	1
norketamine	increases expression	1
methyllycaconitine	decreases reaction, increases expression, affects cotreatment	1
polyhexamethyleneguanidine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	increases expression, decreases reaction	1
CGP 52608	affects binding, increases reaction	1
U 0126	increases expression, decreases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
bisphenol B	increases expression	1
abrine	decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases expression	1
Coal	decreases expression, increases abundance	1

ChEMBL screening assays

30 unique, capped per target: 30 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1042556	Binding	Inhibition of human recombinant serine racemase assessed as formation of D-serine at 5 mM in phosphate buffer of pH 8 treated for 15 to 20 mins before addition of substrate by HPLC analysis in presence of 10 uM PLP	Hydroxamic acids as a novel family of serine racemase inhibitors: mechanistic analysis reveals different modes of interaction with the pyridoxal-5’-phosphate cofactor. — J Med Chem

Clinical trials (associated diseases)

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