AMPH

Summary

AMPH (amphiphysin, HGNC:471) is a protein-coding gene on chromosome 7p14.1, encoding Amphiphysin (P49418). May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types.

This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.

Source: NCBI Gene 273 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 116 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_001635

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:471
Approved symbol	AMPH
Name	amphiphysin
Location	7p14.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000078053
Ensembl biotype	protein_coding
OMIM	600418
Entrez	273

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 10 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000325590, ENST00000356264, ENST00000441628, ENST00000450124, ENST00000460887, ENST00000462072, ENST00000467580, ENST00000471913, ENST00000475581, ENST00000873035, ENST00000873036, ENST00000873037, ENST00000962297, ENST00000962298, ENST00000962299, ENST00000962300

RefSeq mRNA: 2 — MANE Select: NM_001635 NM_001635, NM_139316

CCDS: CCDS47574, CCDS5456

Canonical transcript exons

ENST00000356264 — 21 exons

Exon	Start	End
ENSE00001023141	38432189	38432212
ENSE00001363931	38429842	38429865
ENSE00001602804	38383704	38384925
ENSE00001605286	38461283	38461411
ENSE00001607557	38476862	38476969
ENSE00001611965	38503650	38503704
ENSE00001646088	38534931	38535011
ENSE00001723487	38465467	38465549
ENSE00001727100	38466173	38466248
ENSE00001730994	38389804	38389905
ENSE00001770901	38491050	38491145
ENSE00001772878	38462975	38463113
ENSE00001784795	38436272	38436388
ENSE00001792437	38494433	38494527
ENSE00001792678	38475331	38475416
ENSE00001865805	38631283	38631373
ENSE00003471561	38426954	38426986
ENSE00003473921	38422421	38422477
ENSE00003562385	38394005	38394214
ENSE00003595838	38417825	38417950
ENSE00003657767	38391748	38392017

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 98.09.

FANTOM5 (CAGE): breadth broad, TPM avg 7.0973 / max 444.9620, expressed in 868 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83708	6.2831	826
83711	0.3854	197
83709	0.2639	105
83710	0.1648	80

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	98.09	gold quality
endothelial cell	CL:0000115	96.85	gold quality
frontal pole	UBERON:0002795	96.51	gold quality
paraflocculus	UBERON:0005351	96.24	gold quality
pons	UBERON:0000988	95.24	gold quality
Brodmann (1909) area 10	UBERON:0013541	95.20	gold quality
cerebellar vermis	UBERON:0004720	94.88	gold quality
prefrontal cortex	UBERON:0000451	94.72	gold quality
cerebellar cortex	UBERON:0002129	94.52	gold quality
cerebellar hemisphere	UBERON:0002245	94.47	gold quality
orbitofrontal cortex	UBERON:0004167	94.45	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.44	gold quality
cerebellum	UBERON:0002037	94.37	gold quality
frontal cortex	UBERON:0001870	94.18	gold quality
superior frontal gyrus	UBERON:0002661	94.12	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.91	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.83	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.57	gold quality
neocortex	UBERON:0001950	93.46	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.40	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.23	gold quality
right frontal lobe	UBERON:0002810	93.06	gold quality
postcentral gyrus	UBERON:0002581	92.67	gold quality
cerebral cortex	UBERON:0000956	92.28	gold quality
cingulate cortex	UBERON:0003027	92.09	gold quality
parietal lobe	UBERON:0001872	92.08	gold quality
anterior cingulate cortex	UBERON:0009835	92.03	gold quality
primary visual cortex	UBERON:0002436	91.24	gold quality
entorhinal cortex	UBERON:0002728	90.63	gold quality
occipital lobe	UBERON:0002021	90.22	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.30
E-GEOD-84465	yes	7.11
E-MTAB-7303	no	612.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

97 targeting AMPH, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220

Literature-anchored findings (GeneRIF, showing 16)

• Female patient with amphiphysin autoantibodies and siff leg syndrome due to small cell cancer of the lung. (PMID:16671079)
• Amphiphysin I (Amph I) is a minibrain kinase/dual-specificity tyrosine phosphorylation-regulated kinase substrate. Amph I phosphorylation changes the recruitment of endophilin at the endocytic sites. (PMID:16733250)
• This study demonstrates that the analysis of the molecular interaction energy components between peptides and the SH3 domain can successfully characterize the binding interface. (PMID:18206907)
• Analyses of Gaussian distribution models showed that diversified properties contribute to the interactions between the SH3 domain and of amphiphysin and peptides. (PMID:18814309)
• structure-based approach to prediction of peptide-binding behavior of SH3 domain of amphiphysin-1: statistical modeling (PMID:19669081)
• investigation of binding affinities of decapeptide ligands with amphiphysin SH3 domain using QSAR models (PMID:20214647)
• We propose that antibody-mediated amphiphysin deficiency may account for anxiety behavior in stiff person syndrome (PMID:22331304)
• A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
• AMPH1 protein level is reduced in transgenic mouse brain proteins. in the brainstem of nontransgenic and terminally ill JNPL3 transgenic mice. (PMID:22975846)
• It is a nerve protein and its autoantibody causes paraneoplastic neurological syndromes. (PMID:25087559)
• We show that AMPH-1/BIN1 binds to nesprin and actin, as well as to the microtubule-binding protein CLIP170 in both species. We propose that BIN1 has a direct and evolutionarily conserved role in nuclear positioning, altered in myopathies. (PMID:26506308)
• The data show that the dynamin-amphiphysin helices are rearranged to form clusters upon GTP hydrolysis and membrane constriction occurs at protein-uncoated regions flanking the clusters. (PMID:29357276)
• the anti-oncogenic function of AMPH-1 in lung cancer in vitro and in vivo, is reported. (PMID:30143925)
• AMPH1 functions as a tumour suppressor in ovarian cancer via the inactivation of PI3K/AKT pathway. (PMID:32476271)
• Amphiphysin I cleavage by asparagine endopeptidase leads to tau hyperphosphorylation and synaptic dysfunction. (PMID:34018922)
• Amphiphysin-IgG autoimmune sciatic neuropathy and facial neuropathy related to primary central nervous system lymphoma: A case report. (PMID:37556888)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	amph	ENSDARG00000007663
mus_musculus	Amph	ENSMUSG00000021314
rattus_norvegicus	Amph	ENSRNOG00000059510
drosophila_melanogaster	Amph	FBGN0027356

Paralogs (3): BIN2 (ENSG00000110934), BIN1 (ENSG00000136717), BIN3 (ENSG00000147439)

Protein

Protein identifiers

Amphiphysin — P49418 (reviewed: P49418)

All UniProt accessions (3): P49418, H0Y5S4, H0Y7T8

UniProt curated annotations — full annotation on UniProt →

Function. May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton.

Subunit / interactions. Heterodimer with BIN1. Binds SH3GLB1. Interacts with REPS1 and SGIP1. Binds AP2A2. Interacts with AP2B1. Interacts with DNM1 and SYNJ1.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Cytoplasm. Cytoskeleton.

Tissue specificity. Neurons, certain endocrine cell types and spermatocytes.

Miscellaneous. Antibodies against AMPH are detected in patients with stiff-man syndrome, a rare disease of the central nervous system characterized by progressive rigidity of the body musculature with superimposed painful spasms.

Isoforms (2)

UniProt ID	Names	Canonical?
P49418-1	1, 128 kDa	yes
P49418-2	2, 108 kDa

RefSeq proteins (2): NP_001626, NP_647477 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR003005	Amphiphysin	Family
IPR003017	Amphiphysin_1	Family
IPR004148	BAR_dom	Domain
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR035470	Amphiphysin_I_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily

Pfam: PF03114

UniProt features (29 total): modified residue 9, helix 8, sequence variant 3, domain 2, region of interest 2, coiled-coil region 2, chain 1, splice variant 1, compositionally biased region 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
4ATM	X-RAY DIFFRACTION	1.78
5M61	X-RAY DIFFRACTION	1.84
5M5S	X-RAY DIFFRACTION	1.88
1KY7	X-RAY DIFFRACTION	2.15
1UTC	X-RAY DIFFRACTION	2.3
3SOG	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P49418-F1	64.84	0.39

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 (9): 262, 268, 272, 276, 280, 506, 638, 252, 260

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport

MSigDB gene sets: 176 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, BENPORATH_ES_WITH_H3K27ME3, MODULE_274, AP4_Q6, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, TAL1ALPHAE47_01, REACTOME_MEMBRANE_TRAFFICKING, CAGCTG_AP4_Q5, GOBP_SYNAPTIC_VESICLE_RECYCLING, GOBP_CELL_CELL_SIGNALING, MODULE_66, MODULE_381, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN

GO Biological Process (3): endocytosis (GO:0006897), chemical synaptic transmission (GO:0007268), synaptic vesicle endocytosis (GO:0048488)

GO Molecular Function (2): phospholipid binding (GO:0005543), protein binding (GO:0005515)

GO Cellular Component (11): cytosol (GO:0005829), plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), actin cytoskeleton (GO:0015629), synaptic vesicle membrane (GO:0030672), leading edge membrane (GO:0031256), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Membrane Trafficking	1
Vesicle-mediated transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
anterograde trans-synaptic signaling	1
synaptic vesicle recycling	1
presynaptic endocytosis	1
lipid binding	1
binding	1
membrane	1
cell periphery	1
exocytic vesicle	1
presynapse	1
cytoskeleton	1
synaptic vesicle	1
exocytic vesicle membrane	1
plasma membrane	1
cell leading edge	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

2320 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AMPH	SYNJ1	O43426	995
AMPH	DNM1	Q05193	974
AMPH	SYNJ2	O15056	951
AMPH	GRB2	P29354	917
AMPH	ITSN1	Q15811	900
AMPH	PNMA2	Q9UL42	888
AMPH	ITSN2	Q9NZM3	884
AMPH	SH3GL2	Q99962	884
AMPH	DPYSL5	Q9BPU6	883
AMPH	EPS15	P42566	876
AMPH	DNM2	P50570	875
AMPH	EPN2	O95208	873
AMPH	EPN3	Q9H201	872
AMPH	LGI1	O95970	870
AMPH	CLTCL1	P53675	869

IntAct

92 interactions, top by confidence:

A	B	Type	Score
DNM1	AMPH	psi-mi:“MI:0407”(direct interaction)	0.820
AMPH	DNM1	psi-mi:“MI:0407”(direct interaction)	0.820
ARL16	AMPH	psi-mi:“MI:0915”(physical association)	0.780
AMPH	ARL16	psi-mi:“MI:0915”(physical association)	0.780
AMPH	BIN1	psi-mi:“MI:0914”(association)	0.740
AMPH	DNM2	psi-mi:“MI:0914”(association)	0.710
AMPH	DNM2	psi-mi:“MI:0407”(direct interaction)	0.710
DNM2	AMPH	psi-mi:“MI:0407”(direct interaction)	0.710
Ap2a2	AMPH	psi-mi:“MI:0407”(direct interaction)	0.680
Necap1	Bin1	psi-mi:“MI:0915”(physical association)	0.680
Ap2a2	AMPH	psi-mi:“MI:0915”(physical association)	0.680
AMPH	Ap2a2	psi-mi:“MI:0407”(direct interaction)	0.680
SYNJ1	AMPH	psi-mi:“MI:0407”(direct interaction)	0.670
AMPH	SYNJ1	psi-mi:“MI:0407”(direct interaction)	0.670
BIN2	BIN1	psi-mi:“MI:0914”(association)	0.640
Necap1	AMPH	psi-mi:“MI:0407”(direct interaction)	0.610
AMPH	Necap1	psi-mi:“MI:0407”(direct interaction)	0.610

BioGRID (114): PPP3CC (Two-hybrid), CCDC67 (Two-hybrid), ARL16 (Two-hybrid), AMPH (Affinity Capture-MS), AMPH (Affinity Capture-MS), AMPH (Affinity Capture-MS), AMPH (Affinity Capture-MS), Dnm1 (Reconstituted Complex), AP1G1 (Affinity Capture-Western), AMPH (Affinity Capture-Western), BIN1 (Affinity Capture-MS), AMPH (Affinity Capture-MS), AP2A2 (Affinity Capture-MS), AP2A1 (Affinity Capture-MS), AP1B1 (Affinity Capture-MS)

ESM2 similar proteins: A2AFR3, A6QLZ5, O08838, O94888, O95983, P0C6S7, P21580, P49418, P50478, Q05B58, Q08DU8, Q14161, Q14CM0, Q1RMZ1, Q32KN2, Q3KR37, Q3ZK22, Q497H0, Q5E948, Q5RD48, Q5REE1, Q5REY7, Q5RFL7, Q5U2M7, Q5UAK0, Q5ZIA0, Q5ZKA4, Q60769, Q66H91, Q6DC60, Q6ZPY2, Q7TQF7, Q7Z6G8, Q8BIZ1, Q8BR63, Q8BXK4, Q8IW50, Q8N108, Q8N128, Q8R3V6

Diamond homologs: D3Z6Q9, O00499, O08539, O08838, O08839, P49418, P50478, Q5ZKL7, Q68FR2, Q7TQF7, Q9UBW5, Q95UN8, Q5AFE4

SIGNOR signaling

23 interactions.

A	Effect	B	Mechanism
DYRK1A	down-regulates	AMPH	phosphorylation
MAPK1	“down-regulates activity”	AMPH	phosphorylation
MAPK1	down-regulates	AMPH	phosphorylation
MAPK3	“down-regulates activity”	AMPH	phosphorylation
MAPK3	down-regulates	AMPH	phosphorylation
DYRK1A	“down-regulates activity”	AMPH	phosphorylation
CSNK2A1	down-regulates	AMPH	phosphorylation
Gbeta	down-regulates	AMPH	phosphorylation
ERK1/2	down-regulates	AMPH	phosphorylation
CDKL5	“down-regulates activity”	AMPH	phosphorylation
CyclinB/CDK1	unknown	AMPH	phosphorylation
CDK5	unknown	AMPH	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Clathrin-mediated endocytosis	6	23.2×	3e-05

GO biological processes:

GO term	Partners	Fold	FDR
endocytosis	6	18.4×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	81
Likely benign	15
Benign	2

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	Pathogenic
442557	GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1	Likely pathogenic

SpliceAI

4879 predictions. Top by Δscore:

Variant	Effect	Δscore
7:38389798:TTTTA:T	donor_loss	1.0000
7:38389799:TTTA:T	donor_loss	1.0000
7:38389800:TTACC:T	donor_loss	1.0000
7:38389801:TA:T	donor_loss	1.0000
7:38389802:ACC:A	donor_loss	1.0000
7:38389803:C:T	donor_loss	1.0000
7:38389904:ACCT:A	acceptor_loss	1.0000
7:38389905:CCTG:C	acceptor_loss	1.0000
7:38389906:C:CA	acceptor_loss	1.0000
7:38389907:T:C	acceptor_loss	1.0000
7:38391742:GAATA:G	donor_loss	1.0000
7:38391743:AATAC:A	donor_loss	1.0000
7:38391744:ATACC:A	donor_loss	1.0000
7:38391745:TACC:T	donor_loss	1.0000
7:38391746:A:C	donor_loss	1.0000
7:38391773:T:TA	donor_gain	1.0000
7:38391786:C:A	donor_gain	1.0000
7:38394000:CTCA:C	donor_loss	1.0000
7:38394001:TCA:T	donor_loss	1.0000
7:38394002:CA:C	donor_loss	1.0000
7:38417973:T:TC	acceptor_gain	1.0000
7:38436270:ACC:A	donor_loss	1.0000
7:38436271:CC:C	donor_loss	1.0000
7:38436387:TT:T	acceptor_gain	1.0000
7:38436387:TTCT:T	acceptor_loss	1.0000
7:38436388:TC:T	acceptor_loss	1.0000
7:38436389:C:CC	acceptor_gain	1.0000
7:38436390:T:A	acceptor_loss	1.0000
7:38436398:C:CT	acceptor_gain	1.0000
7:38436399:A:T	acceptor_gain	1.0000

AlphaMissense

4515 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:38384849:A:G	F686S	1.000
7:38384906:C:T	G667E	1.000
7:38384907:C:G	G667R	1.000
7:38384907:C:T	G667R	1.000
7:38384916:A:G	W664R	1.000
7:38384916:A:T	W664R	1.000
7:38465536:A:G	L227P	1.000
7:38466191:A:C	F216L	1.000
7:38466191:A:T	F216L	1.000
7:38466192:A:G	F216S	1.000
7:38466193:A:G	F216L	1.000
7:38475349:A:G	L191S	1.000
7:38475361:A:G	L187S	1.000
7:38475381:A:C	F180L	1.000
7:38475381:A:T	F180L	1.000
7:38475383:A:G	F180L	1.000
7:38476906:C:G	A154P	1.000
7:38476911:A:G	L152P	1.000
7:38476917:T:G	H150P	1.000
7:38476918:G:C	H150D	1.000
7:38476920:C:G	R149P	1.000
7:38476923:G:T	A148D	1.000
7:38476924:C:G	A148P	1.000
7:38476929:T:A	D146V	1.000
7:38476929:T:C	D146G	1.000
7:38476929:T:G	D146A	1.000
7:38476930:C:G	D146H	1.000
7:38476933:A:C	Y145D	1.000
7:38476935:T:A	D144V	1.000
7:38476936:C:G	D144H	1.000

dbSNP variants (sampled 300 via entrez): RS1000001028 (7:38530019 G>A), RS1000008927 (7:38446256 T>A,C), RS1000010989 (7:38491506 C>T), RS1000021710 (7:38479117 A>C), RS1000047787 (7:38397687 C>A,G), RS1000048121 (7:38430820 T>C), RS1000051638 (7:38563987 G>A), RS1000074057 (7:38479436 G>A,C), RS1000075268 (7:38485610 AACTATCAAATG>A), RS1000080920 (7:38440451 G>A), RS1000089351 (7:38471570 A>T), RS1000108462 (7:38571589 A>C,T), RS1000113762 (7:38602996 G>A), RS1000124438 (7:38453948 A>G), RS1000127631 (7:38583239 T>G)

Disease associations

OMIM: gene MIM:600418 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003262_499	Post bronchodilator FEV1	5.000000e-06
GCST007844_14	Ankylosing spondylitis	1.000000e-06
GCST008275_5	Cerebral microbleeds	6.000000e-06
GCST008524_20	Bitter non-alcoholic beverage consumption	4.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume
EFO:0010059	cerebral microbleeds
EFO:0010093	bitter non-alcoholic beverage consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs12701634	AMPH		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	decreases expression, increases expression, affects cotreatment	3
Valproic Acid	affects expression, increases expression	3
bisphenol A	increases methylation, affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
Dexamethasone	increases expression, affects cotreatment, decreases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
tert-Butylhydroperoxide	decreases expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
terbufos	increases methylation	1
mono-(2-ethylhexyl)phthalate	increases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
4-hydroxy-2-nonenal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Ethanol	decreases expression	1
Heroin	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Fonofos	increases methylation	1
Hydrogen Peroxide	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1

Cellosaurus cell lines

2 cell lines: 1 telomerase immortalized cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C3K2	N/Tert-1 AMPH	Telomerase immortalized cell line	Male
CVCL_D8Z4	Ubigene HEK293 AMPH KO	Transformed cell line	Female

Clinical trials (associated diseases)

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