AMZ2

Summary

AMZ2 (archaelysin family metallopeptidase 2, HGNC:28041) is a protein-coding gene on chromosome 17q24.2, encoding Archaemetzincin-2 (Q86W34). Probable zinc metalloprotease.

The protein encoded by this gene is a zinc metalloprotease that displays some activity against angiotensin-3. The encoded protein is inhibited by the aminopeptidase inhibitor amastatin, as well as by the general inhibitors o-phenanthroline and batimastat. Defects in this gene may be associated with lung tumorigenesis.

Source: NCBI Gene 51321 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 85 total — 1 pathogenic
• GTEx eGene: eQTL in 37 tissues, sQTL in 36 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.00 (unconstrained)
• MANE Select transcript: NM_016627
• Notable: 85 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28041
Approved symbol	AMZ2
Name	archaelysin family metallopeptidase 2
Location	17q24.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000196704
Ensembl biotype	protein_coding
OMIM	615169
Entrez	51321

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 25 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron

MANE Select: ENST00000359904

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 1, TSL 3: 2, TSL 5: 13

ENST00000359904, ENST00000359783, ENST00000392720, ENST00000577273, ENST00000577866, ENST00000577985, ENST00000578175, ENST00000579724, ENST00000580548, ENST00000580753, ENST00000580837, ENST00000581779, ENST00000582430, ENST00000584350, ENST00000584494, ENST00000584836, ENST00000584837, ENST00000585050, ENST00000612294, ENST00000674770, ENST00000871321, ENST00000871322, ENST00000871323, ENST00000940109, ENST00000951990, ENST00000951991, ENST00000951992, ENST00000980240, ENST00001066823, ENST00001104394, ENST00001142198

RefSeq mRNA: 23 — MANE Select: NM_016627 NM_001033569, NM_001033570, NM_001033571, NM_001033572, NM_001033574, NM_001289054, NM_001289056, NM_001346471, NM_001346472, NM_001346473, NM_001346474, NM_001346475, NM_001346476, NM_001346477, NM_001346478, NM_001346479, NM_001346480, NM_001346481, NM_001346482, NM_001346483, NM_001346484, NM_001346485, NM_016627

CCDS: CCDS11674, CCDS32714

Canonical transcript exons

ENST00000359904 — 7 exons

Exon	Start	End
ENSE00002709793	68248043	68248705
ENSE00003460596	68256814	68257155
ENSE00003593678	68255700	68255876
ENSE00003625697	68254404	68254567
ENSE00003632386	68250794	68250967
ENSE00003756916	68250188	68250470
ENSE00003786515	68251050	68251178

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.9505 / max 270.9342, expressed in 1818 samples.

Highest expression (Bgee): sperm, testis, male germ cell, caudate nucleus, putamen.

Genetic regulation across tissues (GTEx eQTL / sQTL)

AMZ2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 37 tissues and its splicing (sQTL) in 36 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 73 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	sqtl	5.0e-77	-1.33	17:68252730:G:C
Testis	eqtl	2.6e-52	+0.30	17:68252730:G:C
Cells Cultured fibroblasts	eqtl	1.8e-45	-0.29	17:68248437:T:C
Brain Cerebellum	sqtl	2.3e-34	+1.12	17:68216222:C:G
Muscle Skeletal	sqtl	2.1e-29	-0.62	17:68252730:G:C
Pancreas	eqtl	4.8e-25	-0.42	17:68259280:A:G
Skin Sun Exposed Lower leg	eqtl	1.8e-24	-0.30	17:68256954:T:A
Brain Cerebellar Hemisphere	sqtl	1.6e-23	+1.10	17:68216222:C:G
Muscle Skeletal	eqtl	2.3e-22	+0.24	17:68247947:T:C
Skin Not Sun Exposed Suprapubic	eqtl	7.7e-19	-0.29	17:68257555:G:A
Nerve Tibial	sqtl	1.6e-14	-0.58	17:68267626:A:G
Adipose Subcutaneous	eqtl	2.2e-14	-0.21	17:68256954:T:A
Thyroid	sqtl	6.4e-14	-0.54	17:68252730:G:C
Whole Blood	sqtl	1.5e-13	-0.38	17:68252730:G:C
Whole Blood	eqtl	3.0e-13	-0.23	17:68257555:G:A
Esophagus Mucosa	eqtl	8.3e-13	-0.21	17:68248437:T:C
Skin Not Sun Exposed Suprapubic	sqtl	1.5e-12	-0.50	17:68247947:T:C
Nerve Tibial	eqtl	1.5e-11	-0.21	17:68256954:T:A
Adipose Visceral Omentum	eqtl	1.5e-11	-0.22	17:68256954:T:A
Thyroid	eqtl	4.1e-11	-0.18	17:68256954:T:A

FANTOM5 promoters

7 alternative TSS:

Promoter ID	TPM avg	Samples expressed
162392	36.1106	1815
162381	5.3518	1419
162390	0.6786	357
162380	0.5256	310
162391	0.2180	100
162389	0.0467	13
162394	0.0192	14

Top tissues by expression

showing 100 of 288 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.30	gold quality
left testis	UBERON:0004533	99.06	gold quality
right testis	UBERON:0004534	99.02	gold quality
male germ cell	CL:0000015	98.97	gold quality
caudate nucleus	UBERON:0001873	98.07	gold quality
putamen	UBERON:0001874	98.05	gold quality
testis	UBERON:0000473	97.94	gold quality
nucleus accumbens	UBERON:0001882	97.70	gold quality
right frontal lobe	UBERON:0002810	97.70	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.64	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.56	gold quality
lateral globus pallidus	UBERON:0002476	97.54	gold quality
amygdala	UBERON:0001876	97.40	gold quality
secondary oocyte	CL:0000655	97.39	gold quality
anterior cingulate cortex	UBERON:0009835	97.37	gold quality
cingulate cortex	UBERON:0003027	97.34	gold quality
adenohypophysis	UBERON:0002196	97.28	gold quality
prefrontal cortex	UBERON:0000451	97.26	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.25	gold quality
ventricular zone	UBERON:0003053	97.19	gold quality
pituitary gland	UBERON:0000007	97.14	gold quality
cerebellar hemisphere	UBERON:0002245	97.13	gold quality
cerebellar cortex	UBERON:0002129	97.11	gold quality
spinal cord	UBERON:0002240	97.08	gold quality
adult organism	UBERON:0007023	97.03	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.03	gold quality
frontal cortex	UBERON:0001870	96.98	gold quality
neocortex	UBERON:0001950	96.94	gold quality
telencephalon	UBERON:0001893	96.92	gold quality
forebrain	UBERON:0001890	96.87	gold quality
bronchial epithelial cell	CL:0002328	96.77	gold quality
brain	UBERON:0000955	96.75	gold quality
cerebellum	UBERON:0002037	96.74	gold quality
cortical plate	UBERON:0005343	96.73	gold quality
cerebral cortex	UBERON:0000956	96.63	gold quality
right uterine tube	UBERON:0001302	96.51	gold quality
Ammon’s horn	UBERON:0001954	96.49	gold quality
ganglionic eminence	UBERON:0004023	96.49	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.49	gold quality
hypothalamus	UBERON:0001898	96.41	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.34	gold quality
biceps brachii	UBERON:0001507	96.32	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.26	gold quality
islet of Langerhans	UBERON:0000006	96.25	gold quality
pons	UBERON:0000988	96.11	gold quality
substantia nigra	UBERON:0002038	96.11	gold quality
calcaneal tendon	UBERON:0003701	96.10	gold quality
substantia nigra pars compacta	UBERON:0001965	96.07	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	96.01	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.99	gold quality
midbrain	UBERON:0001891	95.97	gold quality
lower esophagus	UBERON:0013473	95.90	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.90	gold quality
muscle of leg	UBERON:0001383	95.89	gold quality
gastrocnemius	UBERON:0001388	95.84	gold quality
temporal lobe	UBERON:0001871	95.84	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.84	gold quality
right adrenal gland cortex	UBERON:0035827	95.83	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.76	gold quality
colonic epithelium	UBERON:0000397	95.75	gold quality
palpebral conjunctiva	UBERON:0001812	95.72	gold quality
granulocyte	CL:0000094	95.71	gold quality
corpus callosum	UBERON:0002336	95.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	95.67	gold quality
heart left ventricle	UBERON:0002084	95.66	gold quality
muscle organ	UBERON:0001630	95.65	gold quality
postcentral gyrus	UBERON:0002581	95.64	gold quality
cardiac ventricle	UBERON:0002082	95.63	gold quality
heart right ventricle	UBERON:0002080	95.62	gold quality
right adrenal gland	UBERON:0001233	95.54	gold quality
skin of hip	UBERON:0001554	95.53	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.53	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.53	gold quality
lymph node	UBERON:0000029	95.50	gold quality
upper leg skin	UBERON:0004262	95.50	gold quality
parietal lobe	UBERON:0001872	95.46	gold quality
epithelium of nasopharynx	UBERON:0001951	95.42	gold quality
right atrium auricular region	UBERON:0006631	95.39	gold quality
heart	UBERON:0000948	95.38	gold quality
superior frontal gyrus	UBERON:0002661	95.37	gold quality
cerebellar vermis	UBERON:0004720	95.36	gold quality
subthalamic nucleus	UBERON:0001906	95.35	gold quality
medulla oblongata	UBERON:0001896	95.33	gold quality
body of uterus	UBERON:0009853	95.30	gold quality
superior vestibular nucleus	UBERON:0007227	95.25	gold quality
left adrenal gland cortex	UBERON:0035825	95.21	gold quality
left adrenal gland	UBERON:0001234	95.20	gold quality
vastus lateralis	UBERON:0001379	95.20	gold quality
cardiac atrium	UBERON:0002081	95.19	gold quality
adrenal cortex	UBERON:0001235	95.16	gold quality
left ovary	UBERON:0002119	95.12	gold quality
subcutaneous adipose tissue	UBERON:0002190	95.12	gold quality
gall bladder	UBERON:0002110	95.10	gold quality
adipose tissue	UBERON:0001013	95.08	gold quality
right ovary	UBERON:0002118	95.03	gold quality
quadriceps femoris	UBERON:0001377	95.00	gold quality
popliteal artery	UBERON:0002250	95.00	gold quality
tibial artery	UBERON:0007610	95.00	gold quality
oocyte	CL:0000023	94.94	gold quality
adrenal gland	UBERON:0002369	94.94	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	1912.35
E-HCAD-35	yes	73.33
E-ANND-3	yes	7.48

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Testis	tissue	182.5	high
Skeletal muscle	tissue	89.6	low
Tongue	tissue	81.0
Postcentral gyrus	tissue	74.4
Heart muscle	tissue	72.4	low
Retina	tissue	72.4
Nucleus accumbens	tissue	67.9
Hippocampus	tissue	61.2	medium
Parathyroid gland	tissue	60.5	medium
Locus coeruleus	tissue	57.1
Kidney	tissue	55.2	low
Spinal cord	tissue	51.8
Epididymis	tissue	50.3	low
Lymph node	tissue	50.0	low
Thyroid gland	tissue	49.8	medium
Ovary	tissue	49.7	low
Fallopian tube	tissue	49.5	medium
Thymus	tissue	49.4
Adipose tissue	tissue	49.3	low
Pituitary gland	tissue	49.2
Tonsil	tissue	48.2	medium
Seminal vesicle	tissue	48.1	not detected
Putamen	tissue	46.2
Choroid plexus	tissue	46.0
Caudate putamen	tissue	43.4
Medulla oblongata	tissue	42.8
Pancreas	tissue	42.5	low
Breast	tissue	42.0	medium
Pons	tissue	41.7
Substantia nigra	tissue	41.7
Basal ganglia	tissue	41.6	medium
Ventral forebrain	tissue	39.7
Smooth muscle	tissue	39.0	low
Prostate	tissue	39.0	low
Adrenal gland	tissue	38.8	medium
Cervix	tissue	38.7	low
Cerebral cortex	tissue	38.6	medium
Somatosensory cortex	tissue	38.6
Endometrium 1	tissue	38.5	low
Midbrain	tissue	38.1
Salivary gland	tissue	37.9	not detected
Motor cortex	tissue	37.6
Hippocampal formation	tissue	37.2
Septum	tissue	37.0
Hypothalamus	tissue	36.6
Thalamus	tissue	36.4
Esophagus	tissue	36.2	low
Frontal cortex	tissue	36.1
Liver	tissue	35.6	not detected
Spleen	tissue	35.4	not detected
Prefrontal cortex	tissue	35.3
Gallbladder	tissue	35.3	low
Superior colliculi	tissue	34.9
Urinary bladder	tissue	34.5	medium
Occipital cortex	tissue	34.5
Bone marrow	tissue	34.2	not detected
Corpus callosum	tissue	33.7
Stomach 1	tissue	33.5	low
Temporal cortex	tissue	33.2
Periaqueductal gray	tissue	33.1

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Orbitofrontal gyrus, anterior (96.5), Parietal operculum (76.9), Area striata (75.2), Area parastriata, superior (74.7), Inferior frontal gyrus, opercular (74.1).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting AMZ2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

20 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-199A-3P	99.75	70.48	929
HSA-MIR-199B-3P	99.75	70.48	929
HSA-MIR-3129-5P	99.75	70.46	914
HSA-MIR-1244	99.33	68.38	832
HSA-MIR-4705	99.10	69.10	1091
HSA-MIR-4272	98.76	68.74	1810
HSA-MIR-483-3P	97.77	64.95	731

Functional genomics

gnomAD constraint: pLI 1.5e-06, LOEUF 1, missense Z 0.922 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000359904 — one region, missense o/e 0.92.

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000089248
mus_musculus	Amz2	ENSMUSG00000020610
rattus_norvegicus	Amz2	ENSRNOG00000000246

Paralogs (1): AMZ1 (ENSG00000174945)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pongo abelii	Q5R4A6	97.5%	Diamond
Macaca fascicularis	Q4R684	96.4%	Diamond
Haloarcula marismortui ATCC 43049	Q5V0J7	79.8%	Diamond
Haloquadratum walsbyi DSM 16790	Q18KE9	77.1%	Diamond
Thermococcus kodakarensis KOD1	Q5JGD6	55.6%	Diamond
Pyrobaculum aerophilum str. IM2	Q8ZW37	54.3%	Diamond
Archaeoglobus fulgidus DSM 4304	O29917	50.0%	Diamond
Methanopyrus kandleri AV19	Q8TXW1	49.2%	Diamond
Methanocaldococcus jannaschii DSM 2661	Q57729	48.3%	Diamond
Nanoarchaeum equitans Kin4-M	Q74M83	43.7%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ARSG	protein-coding	22901
FAM20A	protein-coding	54757
WIPI1	protein-coding	55062
PRKAR1A	protein-coding	5573
MIR635	ncRNA	693220
SLC16A6	protein-coding	9120
LINC00674	ncRNA	100499466
LINC01482	ncRNA	101928104

Protein

Protein identifiers

Archaemetzincin-2 — Q86W34 (reviewed: Q86W34)

Alternative names: Archeobacterial metalloproteinase-like protein 2

All UniProt accessions (9): Q86W34, J3KRD0, J3KRS2, J3KS38, J3KSH1, J3KTM1, J3QL25, J3QLK6, J3QQR3

UniProt curated annotations — full annotation on UniProt →

Function. Probable zinc metalloprotease.

Tissue specificity. Down-regulated in testis from patients with maturation arrest (MA) or Sertoli cell-only syndrome (SCOS).

Cofactor. Binds 2 Zn(2+) ions per subunit. One is catalytic, whereas the other seems to have a structural role.

Similarity. Belongs to the peptidase M54 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86W34-4	1	yes
Q86W34-5	2

RefSeq proteins (23): NP_001028741, NP_001028742, NP_001028743, NP_001028744, NP_001028746, NP_001275983, NP_001275985, NP_001333400, NP_001333401, NP_001333402, NP_001333403, NP_001333404, NP_001333405, NP_001333406, NP_001333407, NP_001333408, NP_001333409, NP_001333410, NP_001333411, NP_001333412, NP_001333413, NP_001333414, NP_057711* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012962	Pept_M54_archaemetzincn	Family
IPR024079	MetalloPept_cat_dom_sf	Homologous_superfamily
IPR052009	Archaemetzincin	Family

Pfam: PF07998

UniProt features (25 total): sequence conflict 13, binding site 7, sequence variant 2, chain 1, active site 1, splice variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86W34-F1	90.55	0.75

Human Protein Atlas

Protein class: Enzymes, Peptidases, Metallopeptidases, Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; cytosol; nuclear bodies

Antibody reliability (HPA): IH enhanced · IF supported

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 (1)

Position	Role
255	proton acceptor

Ligand- & substrate-binding residues (7)

Position	Role
254	Zn(2+)
258	Zn(2+)
264	Zn(2+)
265	Zn(2+)
270	Zn(2+)
289	Zn(2+)
292	Zn(2+)

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 142 (showing top): GOMF_METALLOPEPTIDASE_ACTIVITY, MODULE_255, MODULE_317, ONKEN_UVEAL_MELANOMA_UP, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, NUYTTEN_EZH2_TARGETS_DN, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MODULE_69, GOBP_PROTEOLYSIS, SCGGAAGY_ELK1_02, GOMF_PEPTIDASE_ACTIVITY, GSE13762_CTRL_VS_125_VITAMIND_DAY5_DC_DN, DAVICIONI_MOLECULAR_ARMS_VS_ERMS_UP, PURBEY_TARGETS_OF_CTBP1_AND_SATB1_DN

GO Biological Process (1): proteolysis (GO:0006508)

GO Molecular Function (4): metallopeptidase activity (GO:0008237), metal ion binding (GO:0046872), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)

GO Cellular Component (1): nucleoplasm (GO:0005654)

GO top-level categories

8 GO namespaces:

Category	Terms
protein metabolic process	1
peptidase activity	1
cation binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
nuclear lumen	1
cellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 6 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
nucleoplasm	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 518 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AMZ2	SMIM17	P0DL12	588
AMZ2	ABITRAM	Q9NX38	433
AMZ2	ZACN	Q401N2	424
AMZ2	HSDL1	Q3SXM5	423
AMZ2	TMEM185B	Q9H7F4	413
AMZ2	NIPAL3	Q6P499	398
AMZ2	GTF2F2	P13984	393
AMZ2	SPRYD7	Q5W111	393
AMZ2	USP17L21	D6R901	390
AMZ2	FAM234B	A2RU67	389
AMZ2	LRRIQ3	A6PVS8	386
AMZ2	USP17L19	D6RCP7	386
AMZ2	USP17L12	C9JPN9	385
AMZ2	TMEM214	Q6NUQ4	382
AMZ2	CMIP	Q8IY22	381

IntAct

Human interaction partners of AMZ2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
NDE1	association	0.350	1

BioGRID (38 interactions; top human partners by supporting records): CCL14 (Affinity Capture-MS; 2 records), CCL4 (Affinity Capture-MS; 2 records), INSL5 (Affinity Capture-MS; 2 records), LRRC46 (Affinity Capture-MS; 2 records), PAK7 (Affinity Capture-MS; 2 records), BTRC (Proximity Label-MS), CCL3 (Affinity Capture-MS), CCL3L1 (Affinity Capture-MS), CCL4L1 (Affinity Capture-MS), CTSO (Affinity Capture-MS), CYP2C18 (Affinity Capture-MS), DENR (Affinity Capture-MS), DKK1 (Affinity Capture-MS), EZH2 (Affinity Capture-MS), IL17RC (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for AMZ2: 85 ClinVar records (1 pathogenic / likely pathogenic); 4 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	63
Likely benign	7
Benign	4

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
149337	GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore AMZ2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 591):

Position(s)	Effect	Δscore	Sites
17:68254402–68254403	acceptor_loss	1.0000	4
17:68254568–68254569	donor_loss	1.0000	3
17:68255877–68255878	donor_loss	1.0000	3
17:68256812–68256813	acceptor_loss	1.0000	3
17:68251045	acceptor_gain	0.9900
17:68251048–68251049	acceptor_loss	0.9900	6
17:68251248	donor_gain	0.9900
17:68254402–68254403	acceptor_loss	0.9900	2
17:68254501	donor_gain	0.9900
17:68255698–68255699	acceptor_loss	0.9900	5

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

5 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	1.72e-05
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	3.98e-05
Kidney Chromophobe (TCGA)	unfavorable	0.00071
Head and Neck Squamous Cell Carcinoma (TCGA)	unfavorable	0.000809
Pancreatic Adenocarcinoma (TCGA)	favorable	0.00099

Disease associations

OMIM: gene MIM:615169 | disease phenotypes:

GWAS associations

4 associations:

Study	Trait	p-value
GCST006924_5	Loneliness (MTAG)	1e-9
GCST006923_13	Loneliness	6e-9
GCST010796_1412	Electrocardiogram morphology (amplitude at temporal datapoints)	7e-9
GCST006922_1	Regular attendance at a religious group	2e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0009592	social interaction measurement
EFO:0007865	loneliness measurement
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases expression	3
Air Pollutants	increases abundance, increases oxidation, decreases expression, affects cotreatment	2
Valproic Acid	affects expression, decreases expression	2
Cyclosporine	increases expression, decreases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	increases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	increases methylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
azoxystrobin	increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Acrolein	increases oxidation, increases abundance, affects cotreatment	1
Vehicle Emissions	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Ethyl Methanesulfonate	increases expression	1
Methapyrilene	increases methylation	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Rotenone	increases expression	1
Thiram	decreases expression	1
Tungsten Compounds	increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.