ADAM7

Summary

ADAM7 (ADAM metallopeptidase domain 7, HGNC:214) is a protein-coding gene on chromosome 8p21.2, encoding Disintegrin and metalloproteinase domain-containing protein 7 (Q9H2U9). Required for normal male fertility via maintenance of epithelial cell morphology in the caput epididymis and subsequently correct epididymis lumen structure required for sperm development.

This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma.

Source: NCBI Gene 8756 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 139 total
• GTEx eGene: eQTL in 1 tissue, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.16 (unconstrained)
• MANE Select transcript: NM_003817
• Notable: 139 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:214
Approved symbol	ADAM7
Name	ADAM metallopeptidase domain 7
Location	8p21.2
Locus type	gene with protein product
Status	Approved
Aliases	GP-83, EAPI
Ensembl gene	ENSG00000069206
Ensembl biotype	protein_coding
OMIM	607310
Entrez	8756

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

MANE Select: ENST00000175238

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

ENST00000175238, ENST00000380789, ENST00000441335, ENST00000520720, ENST00001139712

RefSeq mRNA: 1 — MANE Select: NM_003817 NM_003817

CCDS: CCDS6045

Canonical transcript exons

ENST00000175238 — 22 exons

Exon	Start	End
ENSE00000433454	24499236	24499316
ENSE00000684969	24468767	24468820
ENSE00000684971	24482142	24482311
ENSE00000684972	24485277	24485361
ENSE00000684973	24487187	24487317
ENSE00000684974	24489159	24489333
ENSE00000684975	24490799	24490888
ENSE00000684978	24491903	24492098
ENSE00000684980	24492495	24492597
ENSE00000684982	24493043	24493229
ENSE00000684986	24500178	24500256
ENSE00000818517	24500790	24500895
ENSE00000980187	24442473	24442576
ENSE00000980188	24447186	24447262
ENSE00001109024	24465699	24465775
ENSE00001109028	24463882	24463960
ENSE00001158594	24466799	24466988
ENSE00001684127	24507480	24507535
ENSE00001724953	24508546	24509565
ENSE00001821350	24441026	24441160
ENSE00002714248	24501477	24501576
ENSE00003677101	24476433	24476504

Expression profiles

Bgee: expression breadth broad, 21 present calls, max score 99.99.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.7892 / max 1224.0507, expressed in 7 samples.

Highest expression (Bgee): corpus epididymis, cauda epididymis, epididymis, male germ line stem cell (sensu Vertebrata) in testis, caput epididymis.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ADAM7 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 1 tissue and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

1 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Pancreas	eqtl	3.2e-18	+0.50	8:24509381:G:T

FANTOM5 promoters

5 alternative TSS:

Promoter ID	TPM avg	Samples expressed
87965	0.6190	6
87964	0.0643	4
87963	0.0575	3
87967	0.0378	3
87966	0.0106	3

Top tissues by expression

showing 100 of 263 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	99.99	gold quality
cauda epididymis	UBERON:0004360	99.66	gold quality
epididymis	UBERON:0001301	94.45	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.67	gold quality
caput epididymis	UBERON:0004358	83.79	gold quality
seminal vesicle	UBERON:0000998	82.38	gold quality
left testis	UBERON:0004533	64.47	gold quality
right testis	UBERON:0004534	63.93	gold quality
testis	UBERON:0000473	63.64	gold quality
body of pancreas	UBERON:0001150	62.23	gold quality
buccal mucosa cell	CL:0002336	56.58	gold quality
pancreatic ductal cell	CL:0002079	54.16	silver quality
endothelial cell	CL:0000115	54.15	gold quality
cerebellar vermis	UBERON:0004720	52.33	gold quality
endometrium epithelium	UBERON:0004811	52.33	gold quality
male germ cell	CL:0000015	52.30	silver quality
epithelium of nasopharynx	UBERON:0001951	51.93	gold quality
sperm	CL:0000019	50.91	silver quality
pancreas	UBERON:0001264	50.70	gold quality
quadriceps femoris	UBERON:0001377	50.61	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
epithelial cell of pancreas	CL:0000083	50.19	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
deltoid	UBERON:0001476	50.07	gold quality
tibia	UBERON:0000979	49.80	gold quality
metanephric glomerulus	UBERON:0004736	49.61	gold quality
vastus lateralis	UBERON:0001379	49.50	gold quality
thymus	UBERON:0002370	49.48	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	48.48	silver quality
oviduct epithelium	UBERON:0004804	48.35	gold quality
ileal mucosa	UBERON:0000331	48.31	silver quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality
tibialis anterior	UBERON:0001385	48.11	silver quality
kidney epithelium	UBERON:0004819	48.11	gold quality
upper arm skin	UBERON:0004263	48.06	gold quality
cervix epithelium	UBERON:0004801	48.04	gold quality
tongue squamous epithelium	UBERON:0006919	47.92	gold quality
mucosa of urinary bladder	UBERON:0001259	47.80	gold quality
layer of synovial tissue	UBERON:0007616	47.54	gold quality
nephron tubule	UBERON:0001231	47.30	gold quality
diaphragm	UBERON:0001103	47.05	gold quality
gluteal muscle	UBERON:0002000	47.03	gold quality
triceps brachii	UBERON:0001509	47.01	gold quality
lower lobe of lung	UBERON:0008949	46.07	silver quality
nasal cavity epithelium	UBERON:0005384	45.61	gold quality
bone marrow cell	CL:0002092	44.85	gold quality
muscle tissue	UBERON:0002385	44.36	gold quality
adult organism	UBERON:0007023	44.16	gold quality
skeletal muscle tissue	UBERON:0001134	44.15	gold quality
squamous epithelium	UBERON:0006914	43.92	gold quality
epithelium of esophagus	UBERON:0001976	43.58	gold quality
trachea	UBERON:0003126	43.44	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
amniotic fluid	UBERON:0000173	43.08	gold quality
epithelium of bronchus	UBERON:0002031	42.99	gold quality
bronchus	UBERON:0002185	42.86	gold quality
middle temporal gyrus	UBERON:0002771	42.70	gold quality
penis	UBERON:0000989	42.60	silver quality
secondary oocyte	CL:0000655	42.57	gold quality
dorsal plus ventral thalamus	UBERON:0001897	42.42	gold quality
germinal epithelium of ovary	UBERON:0001304	42.09	gold quality
subthalamic nucleus	UBERON:0001906	42.09	gold quality
cartilage tissue	UBERON:0002418	42.04	gold quality
adult mammalian kidney	UBERON:0000082	41.98	silver quality
ventral tegmental area	UBERON:0002691	41.90	gold quality
epithelium of mammary gland	UBERON:0003244	41.74	gold quality
bone marrow	UBERON:0002371	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
esophagus squamous epithelium	UBERON:0006920	41.17	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
mammary duct	UBERON:0001765	40.61	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
pigmented layer of retina	UBERON:0001782	40.54	gold quality
dorsal root ganglion	UBERON:0000044	40.51	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
pleura	UBERON:0000977	40.41	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	40.27	gold quality
jejunum	UBERON:0002115	40.18	gold quality
medial globus pallidus	UBERON:0002477	40.10	gold quality
tongue	UBERON:0001723	40.09	gold quality
mucosa of sigmoid colon	UBERON:0004993	39.95	gold quality
globus pallidus	UBERON:0001875	39.89	gold quality
bronchial epithelial cell	CL:0002328	39.88	gold quality
saphenous vein	UBERON:0007318	39.83	gold quality
parotid gland	UBERON:0001831	39.81	gold quality
oocyte	CL:0000023	39.80	gold quality
urethra	UBERON:0000057	39.80	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.83
E-HCAD-38	no	1466.82
E-GEOD-99795	no	12.89

HPA expression

RNA tissue specificity: Tissue enriched

38 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Epididymis	tissue	3519.1	high
Seminal vesicle	tissue	14.8	not detected
Cerebellum	tissue	5.0	not detected
Olfactory bulb	tissue	4.7
Cerebral cortex	tissue	4.4	not detected
Insular cortex	tissue	4.4
Retrosplenial cortex	tissue	4.3
Retrosplenial and cingulate cortex	tissue	4.2
Amygdala	tissue	4.0
Postcentral gyrus	tissue	4.0
Temporal cortex	tissue	3.7
Occipital cortex	tissue	3.7
Prefrontal cortex	tissue	3.6
Hippocampal formation	tissue	3.6
Entorhinal cortex	tissue	3.6
Basal ganglia	tissue	3.5	not detected
Motor cortex	tissue	3.1
Ventral forebrain	tissue	3.0
Periaqueductal gray	tissue	2.7
Septum	tissue	2.7
Somatosensory cortex	tissue	2.7
Putamen	tissue	2.6
Hypothalamus	tissue	2.4
Testis	tissue	2.1	not detected
Corpus callosum	tissue	2.1
Midbrain	tissue	1.9
Medulla oblongata	tissue	1.7
Thalamus	tissue	1.6
Superior colliculi	tissue	1.6
Substantia nigra	tissue	1.6
Pons	tissue	1.5
Spinal cord	tissue	1.4
Locus coeruleus	tissue	1.3
Hippocampus	tissue	0.8	not detected
Nucleus accumbens	tissue	0.7
Pancreas	tissue	0.5	not detected
Choroid plexus	tissue	0.2
Kidney	tissue	0.1	not detected

Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — Precentral gyrus (3.8), Supplementary motor cortex (3.4), Ventral hippocampus (3.4), Subiculum (3.3), Somatosensory cortex, postcentral gyrus, ventral (white matter) (3.2).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ADAM7 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 61 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-10394-5P	99.65	66.83	1852

Functional genomics

gnomAD constraint: pLI 2.28e-22, LOEUF 1.16, missense Z -0.417 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000175238 — one region, missense o/e 1.09.

Literature-anchored findings (GeneRIF, showing 2)

• mutated ADAM27 and ADAM7 genes could play a role in melanoma progression. (PMID:21618342)
• ADAM7 promotes the proliferation and invasion in trophoblast cells. (PMID:34116022)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	adam10b	ENSDARG00000015502
danio_rerio	adam10a	ENSDARG00000053468
danio_rerio	adam9b	ENSDARG00000057138
mus_musculus	Adam7	ENSMUSG00000022056
rattus_norvegicus	Adam7	ENSRNOG00000014054
drosophila_melanogaster	mmd	FBGN0259110
drosophila_melanogaster	kuz	FBGN0259984
caenorhabditis_elegans	sup-17	WBGENE00006324
caenorhabditis_elegans		WBGENE00006804

Paralogs (20): ADAM22 (ENSG00000008277), ADAM28 (ENSG00000042980), ADAM11 (ENSG00000073670), ADAM2 (ENSG00000104755), ADAM23 (ENSG00000114948), ADAM20 (ENSG00000134007), ADAMDEC1 (ENSG00000134028), ADAM30 (ENSG00000134249), ADAM19 (ENSG00000135074), ADAM10 (ENSG00000137845), ADAM21 (ENSG00000139985), ADAM15 (ENSG00000143537), ADAM12 (ENSG00000148848), ADAM33 (ENSG00000149451), ADAM8 (ENSG00000151651), ADAM17 (ENSG00000151694), ADAM29 (ENSG00000168594), ADAM9 (ENSG00000168615), ADAM18 (ENSG00000168619), ADAM32 (ENSG00000197140)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:107247) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 12 distinct phenotype terms.

Mouse phenotype (MP)	Records
impaired fertilization	1
anophthalmia	1
reduced male fertility	1
abnormal eye morphology	1
abnormal epididymis morphology	1
abnormal caput epididymis morphology	1
abnormal cauda epididymis morphology	1
abnormal sperm motility	1
abnormal epididymis epithelium morphology	1
increased cardiac muscle contractility	1
kinked sperm flagellum	1
spermatic granuloma	1

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
Crotalus scutulatus scutulatus	A2CJE2	100.0%	Diamond
Crotalus viridis viridis	A2CJE3	100.0%	Diamond
Bothrops atrox	C5H5D3	99.5%	Diamond
Lachesis muta rhombeata	C5H5D6	99.5%	Diamond
Gloydius halys	Q90Y44	98.6%	Diamond
Crotalus durissus terrificus	Q076D1	98.1%	Diamond
Gloydius brevicauda	O93518	96.8%	Diamond
Crotalus atrox	A2CJE4	93.8%	Diamond
Naja kaouthia	P82942	91.3%	Diamond
Macaca fascicularis	Q28475	91.1%	Diamond
Bothrops alternatus	P0C6R9	91.0%	Diamond
Bothrops jararaca	Q0NZY0	89.8%	Diamond
Crotalus ruber ruber	Q9PSN7	87.0%	Diamond
Bothrops leucurus	P86092	80.5%	Diamond
Macrovipera lebetina transmediterranea	C0LZJ5	77.8%	Diamond
Xenopus laevis	Q9PSZ3	77.8%	Diamond
Ophiophagus hannah	A3R0T9	61.6%	Diamond
Schizosaccharomyces pombe 972h-	O13766	48.7%	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
ADAM7-AS2	ncRNA	101929315
ADAM28	protein-coding	10863
ADAMDEC1	protein-coding	27299
ADAM7-AS1	ncRNA	101929294
NEFM	protein-coding	4741

Protein

Protein identifiers

Disintegrin and metalloproteinase domain-containing protein 7 — Q9H2U9 (reviewed: Q9H2U9)

Alternative names: Sperm maturation-related glycoprotein GP-83

All UniProt accessions (4): A0A384MTL6, C9JK28, E5RK87, Q9H2U9

UniProt curated annotations — full annotation on UniProt →

Function. Required for normal male fertility via maintenance of epithelial cell morphology in the caput epididymis and subsequently correct epididymis lumen structure required for sperm development. Plays a role in sperm motility, flagella morphology and tyrosine phosphorylation during sperm capacitance. Plays a role in normal expression levels of HSPA5, ITM2B and ADAM2 in sperm both prior to and post-capacitation. This is a non catalytic metalloprotease-like protein.

Subunit / interactions. Interacts with ITM2B in sperm; the interaction increases following capacitation. Interacts with HSPA5 and CANX.

Subcellular location. Membrane.

Disease relevance. Has been found to be frequently mutated in melanoma. ADAM7 mutations may play a role in melanoma progression and metastasis. Expressed in melanoma cells but not in healthy melanocytes.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H2U9-1	1	yes
Q9H2U9-2	2

RefSeq proteins (1): NP_003808* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001590	Peptidase_M12B	Domain
IPR001762	Disintegrin_dom	Domain
IPR002870	Peptidase_M12B_N	Domain
IPR006586	ADAM_Cys-rich	Domain
IPR018358	Disintegrin_CS	Conserved_site
IPR024079	MetalloPept_cat_dom_sf	Homologous_superfamily
IPR034027	Reprolysin_adamalysin	Domain
IPR036436	Disintegrin_dom_sf	Homologous_superfamily

Pfam: PF00200, PF01421, PF01562, PF08516

UniProt features (44 total): sequence variant 20, glycosylation site 6, disulfide bond 4, sequence conflict 4, splice variant 2, topological domain 2, domain 2, signal peptide 1, propeptide 1, chain 1, transmembrane region 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2U9-F1	75.03	0.32

Human Protein Atlas

Protein class: Predicted membrane proteins, Predicted intracellular proteins, Plasma proteins, Disease related genes

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH enhanced

Functional residue map

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

Disulfide bonds (4)

Type	Positions
Disulfide bond	310–389, 350–373, 352–357, 460–480

Glycosylation sites (6)

Type	Positions
N-linked (glcnac…) asparagine	174, 184, 584, 668, 84, 167

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: 113 (showing top): GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_CELL_MATURATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOCC_CELL_SURFACE, GOBP_MALE_GAMETE_GENERATION, GOBP_SPERM_CAPACITATION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, chr8p21, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_CELL_MATURATION, GOBP_CILIUM_MOVEMENT, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT

GO Biological Process (5): epithelial cell morphogenesis (GO:0003382), proteolysis (GO:0006508), positive regulation of flagellated sperm motility (GO:1902093), positive regulation of sperm capacitation (GO:1902492), epididymis development (GO:1905867)

GO Molecular Function (4): metalloendopeptidase activity (GO:0004222), endopeptidase activity (GO:0004175), metallopeptidase activity (GO:0008237), metal ion binding (GO:0046872)

GO Cellular Component (3): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)

GO top-level categories

21 GO namespaces:

Category	Terms
positive regulation of reproductive process	2
peptidase activity	2
cellular anatomical structure	2
cell morphogenesis	1
epithelial cell development	1
protein metabolic process	1
positive regulation of cilium movement	1
flagellated sperm motility	1
regulation of flagellated sperm motility	1
positive regulation of cilium-dependent cell motility	1
sperm capacitation	1
positive regulation of multicellular organismal process	1
regulation of sperm capacitation	1
positive regulation of cell maturation	1
tube development	1
animal gross anatomical part developmental process	1
endopeptidase activity	1
metallopeptidase activity	1
cation binding	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

showing 15 of 936 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADAM7	TEDDM1	Q5T9Z0	456
ADAM7	ZNF511	Q8NB15	455
ADAM7	TEKTIP1	A6NCJ1	436
ADAM7	LCN6	P62502	416
ADAM7	ADAMTSL3	P82987	388
ADAM7	OVCH2	Q7RTZ1	386
ADAM7	LCN9	Q8WX39	373
ADAM7	CST11	Q9H112	371
ADAM7	VSIG4	Q9Y279	370
ADAM7	H7BY64	H7BY64	363
ADAM7	OTOF	Q9HC10	363
ADAM7	CCDC181	Q5TID7	361
ADAM7	FRMD8	Q9BZ67	359
ADAM7	CRISP1	P54107	355
ADAM7	LCN8	Q6JVE9	349

IntAct

Human interaction partners of ADAM7 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

Partner	Interaction type	MIscore	Records
ATP2B2	association	0.350	1
RIOK3	association	0.350	1

BioGRID (35 interactions; top human partners by supporting records): ATP2B2 (Affinity Capture-MS), ATP2B3 (Affinity Capture-MS), AXL (Affinity Capture-MS), BTAF1 (Affinity Capture-MS), CBWD2 (Affinity Capture-MS), CBWD3 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CMTM8 (Affinity Capture-MS), CPT1A (Affinity Capture-MS), DDX19B (Affinity Capture-MS), EZH2 (Affinity Capture-MS), FAS (Affinity Capture-MS), HEATR6 (Affinity Capture-MS), HKDC1 (Affinity Capture-MS), ICAM1 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for ADAM7: 139 ClinVar records (0 pathogenic / likely pathogenic); 4 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	127
Likely benign	8
Benign	1

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 32 predictions of 1,861):

Position(s)	Effect	Δscore	Sites
8:24465697–24465698	acceptor_loss	1.0000	4
8:24465776–24465777	donor_loss	1.0000	5
8:24466797–24466798	acceptor_loss	1.0000	5
8:24466989	donor_loss	1.0000	2
8:24499322	donor_gain	1.0000
8:24501475–24501476	acceptor_loss	1.0000	6
8:24501577–24501578	donor_loss	1.0000	5
8:24465697–24465698	acceptor_loss	0.9900	2
8:24465777	donor_loss	0.9900
8:24466789	acceptor_gain	0.9900

AlphaMissense

969 missense substitutions predicted likely pathogenic (of 5,030 scored), across 245 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M359	9	0.863	0.967
N530	8	0.917	0.980
D417	8	0.910	0.951
H153	8	0.872	0.948
D321	8	0.866	0.961
D468	8	0.866	0.925
H335	8	0.865	0.961
H339	8	0.809	0.955
H345	8	0.747	0.879
C126	7	0.975	0.986
C107	7	0.973	0.986
C357	7	0.972	0.989
C616	7	0.971	0.989
C526	7	0.970	0.985
C499	7	0.968	0.980
C511	7	0.968	0.990
C556	7	0.968	0.990
F370	7	0.967	0.991
C467	7	0.963	0.985
C561	7	0.963	0.985

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Kidney Renal Papillary Cell Carcinoma, Prostate Adenocarcinoma)

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

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Papillary Cell Carcinoma (TCGA)	unfavorable	5.26e-07
Prostate Adenocarcinoma (TCGA)	favorable	0.000258

Disease associations

OMIM: gene MIM:607310 | disease phenotypes:

GWAS associations

4 associations:

Study	Trait	p-value
GCST003113_2	Cingulate cortical amyloid beta load	2e-7
GCST009817_3	Clozapine-induced myocarditis in schizophrenia	3e-7
GCST001760_2	White matter integrity	3e-6
GCST003478_4	Hair greying	4e-6

EFO canonical traits (from GWAS)

2 canonical traits:

EFO ID	Trait name
EFO:0004641	white matter integrity
EFO:0005194	amyloid-beta measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — M12: Astacin/Adamalysin

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation	1
perfluorooctanoic acid	decreases expression	1
phenethyl isothiocyanate	affects binding	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Arbutin	increases expression	1
Benzo(a)pyrene	affects methylation	1
Metribolone	increases expression	1

Clinical trials (associated diseases)

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