ADM5

Summary

ADM5 (adrenomedullin 5 (putative), HGNC:27293) is a protein-coding gene on chromosome 19q13.33, encoding Putative adrenomedullin-5-like protein (C9JUS6). Probable non-functional remnant of adrenomedullin-5.

Predicted to be involved in several processes, including adenylate cyclase-activating G protein-coupled receptor signaling pathway; positive regulation of heart rate; and regulation of urine volume. Predicted to be located in extracellular region.

Source: NCBI Gene 199800 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 37 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_001101340

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27293
Approved symbol	ADM5
Name	adrenomedullin 5 (putative)
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	AM5
Ensembl gene	ENSG00000224420
Ensembl biotype	protein_coding
OMIM	621171
Entrez	199800

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000420022, ENST00000968029

RefSeq mRNA: 1 — MANE Select: NM_001101340 NM_001101340

CCDS: CCDS46146

Canonical transcript exons

ENST00000420022 — 2 exons

Exon	Start	End
ENSE00001665393	49690106	49690575
ENSE00001961552	49689594	49689911

Expression profiles

Bgee: expression breadth ubiquitous, 153 present calls, max score 74.50.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1606 / max 13.3089, expressed in 91 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177051	0.1385	80
208900	0.0221	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	74.50	gold quality
upper arm skin	UBERON:0004263	74.11	gold quality
subcutaneous adipose tissue	UBERON:0002190	73.65	gold quality
right uterine tube	UBERON:0001302	72.76	gold quality
granulocyte	CL:0000094	71.61	gold quality
spleen	UBERON:0002106	71.58	gold quality
pancreatic ductal cell	CL:0002079	71.46	silver quality
left uterine tube	UBERON:0001303	71.23	gold quality
mucosa of transverse colon	UBERON:0004991	71.20	gold quality
skin of leg	UBERON:0001511	71.11	gold quality
skin of abdomen	UBERON:0001416	71.08	gold quality
gastrocnemius	UBERON:0001388	70.92	gold quality
mucosa of stomach	UBERON:0001199	70.84	gold quality
epithelial cell of pancreas	CL:0000083	70.73	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	70.17	gold quality
tibial nerve	UBERON:0001323	70.03	gold quality
zone of skin	UBERON:0000014	69.94	gold quality
omental fat pad	UBERON:0010414	69.78	gold quality
body of uterus	UBERON:0009853	69.77	gold quality
peritoneum	UBERON:0002358	69.76	gold quality
tendon of biceps brachii	UBERON:0008188	69.33	gold quality
adipose tissue of abdominal region	UBERON:0007808	69.20	gold quality
heart right ventricle	UBERON:0002080	69.16	gold quality
adipose tissue	UBERON:0001013	69.05	gold quality
lower esophagus	UBERON:0013473	68.87	gold quality
lower esophagus muscularis layer	UBERON:0035833	68.81	gold quality
upper lobe of left lung	UBERON:0008952	68.27	gold quality
muscle of leg	UBERON:0001383	68.13	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	67.77	gold quality
endocervix	UBERON:0000458	67.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting ADM5, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-18A-5P	99.29	71.05	806
HSA-MIR-18B-5P	99.29	71.05	806
HSA-MIR-4735-3P	99.14	69.85	777
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-6818-3P	98.56	68.23	1307
HSA-MIR-6730-5P	98.03	68.12	1299
HSA-MIR-4486	96.96	60.61	931
HSA-MIR-3976	96.67	67.79	1187
HSA-MIR-571	95.38	66.54	671

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Putative adrenomedullin-5-like protein — C9JUS6 (reviewed: C9JUS6)

All UniProt accessions (1): C9JUS6

UniProt curated annotations — full annotation on UniProt →

Function. Probable non-functional remnant of adrenomedullin-5.

Subcellular location. Secreted.

Similarity. Belongs to the adrenomedullin family.

RefSeq proteins (1): NP_001094810* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR051665	Adrenomedullin-reg_peptide	Family

UniProt features (3 total): signal peptide 1, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-C9JUS6-F1	51.35	0.00

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 (1): 39–44

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 43 (showing top): GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE, GOBP_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_HEART_RATE, GOBP_REGULATION_OF_HEART_RATE, GOBP_REGULATION_OF_URINE_VOLUME, GOBP_REGULATION_OF_SYSTEM_PROCESS, GOBP_HEART_PROCESS, GOBP_POSITIVE_REGULATION_OF_BLOOD_CIRCULATION, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_REGULATION_OF_BODY_FLUID_LEVELS, GOBP_RENAL_SYSTEM_PROCESS, GOBP_REGULATION_OF_BLOOD_CIRCULATION, GOBP_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS

GO Biological Process (3): regulation of systemic arterial blood pressure (GO:0003073), adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0007189), positive regulation of heart rate (GO:0010460)

GO Molecular Function (0):

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of blood pressure	1
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	1
adenylate cyclase activator activity	1
regulation of heart rate	1
positive regulation of heart contraction	1
cellular anatomical structure	1

Protein interactions and networks

STRING

124 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADM5	ADM2	Q7Z4H4	790
ADM5	ADM	P35318	518
ADM5	MAP2K2	P36507	481
ADM5	TTC9	Q92623	478
ADM5	RASEF	Q8IZ41	412
ADM5	TMEM65	Q6PI78	404
ADM5	RAMP1	O60894	383
ADM5	A0A0A6YYL1	A0A0A6YYL1	359
ADM5	ZSWIM4	Q9H7M6	332
ADM5	RAMP2	O60895	323
ADM5	PDPN	Q86YL7	323
ADM5	CALCRL	Q16602	305
ADM5	GPR146	Q96CH1	278
ADM5	ELL2	O00472	272
ADM5	RAMP3	O60896	270

IntAct

0 interactions, top by confidence:

BioGRID (1): ADM5 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0B4J1N3, A0A1B0GTK4, A0A1B0GTR0, A0JNL8, A2RUT3, A4IFR0, C9JUS6, D3ZKM3, E9PXB6, F2Z3F1, O70899, O71302, O93195, O95411, P03165, P04610, P0C7M3, P12912, P13206, P20976, P20977, P29560, P47939, P47940, P69714, Q02919, Q08648, Q1RN00, Q1WG82, Q5PR19, Q66669, Q67923, Q69027, Q69604, Q6PDA7, Q6UWK7, Q80IU5, Q80IU8, Q8N5N4, Q913A9

Diamond homologs: A5LHG2, C9JUS6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	32
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3906919	GRCh37/hg19 19q13.33(chr19:50061421-50210940)x1	Pathogenic
4075996	GRCh37/hg19 19q13.33(chr19:49088521-50423301)x3	Likely pathogenic

SpliceAI

255 predictions. Top by Δscore:

Variant	Effect	Δscore
19:49689907:GCCAG:G	donor_gain	1.0000
19:49689909:CAGG:C	donor_loss	0.9900
19:49689910:AGGTG:A	donor_loss	0.9900
19:49689912:G:GA	donor_loss	0.9900
19:49689912:G:GG	donor_gain	0.9900
19:49690092:C:CA	acceptor_gain	0.9900
19:49690101:TCCA:T	acceptor_loss	0.9900
19:49690103:CAGGC:C	acceptor_loss	0.9900
19:49690104:A:AC	acceptor_loss	0.9900
19:49690104:A:AG	acceptor_gain	0.9900
19:49690104:AGGC:A	acceptor_gain	0.9900
19:49690105:G:GG	acceptor_gain	0.9900
19:49690105:G:GT	acceptor_loss	0.9900
19:49690105:GGC:G	acceptor_gain	0.9900
19:49690105:GGCG:G	acceptor_gain	0.9900
19:49690105:GGCGA:G	acceptor_gain	0.9900
19:49690104:AG:A	acceptor_gain	0.9800
19:49690105:GG:G	acceptor_gain	0.9800
19:49690091:AC:A	acceptor_gain	0.9700
19:49690092:C:G	acceptor_gain	0.9700
19:49690104:AGGCG:A	acceptor_gain	0.9700
19:49689294:G:GG	donor_gain	0.9300
19:49689246:C:T	donor_gain	0.9200
19:49689293:A:AG	donor_gain	0.9200
19:49690091:A:AG	acceptor_gain	0.9200
19:49689836:C:CA	acceptor_gain	0.8900
19:49689910:AG:A	donor_gain	0.8900
19:49689911:GG:G	donor_gain	0.8900
19:49689851:T:G	acceptor_gain	0.8800
19:49689283:G:T	donor_gain	0.8600

AlphaMissense

958 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:49690196:G:C	W55C	0.785
19:49690196:G:T	W55C	0.785
19:49690198:T:C	I56T	0.774
19:49690389:T:C	F120L	0.749
19:49690391:C:A	F120L	0.749
19:49690391:C:G	F120L	0.749
19:49690355:G:C	W108C	0.738
19:49690355:G:T	W108C	0.738
19:49690464:T:C	F145L	0.723
19:49690466:C:A	F145L	0.723
19:49690466:C:G	F145L	0.723
19:49690189:T:A	I53K	0.709
19:49689877:T:C	F14L	0.680
19:49689879:C:A	F14L	0.680
19:49689879:C:G	F14L	0.680
19:49690198:T:G	I56S	0.677
19:49690186:T:C	I52T	0.663
19:49690186:T:G	I52S	0.663
19:49690183:A:T	E51V	0.657
19:49690155:G:T	G42C	0.611
19:49690146:T:C	C39R	0.599
19:49690194:T:A	W55R	0.595
19:49690194:T:C	W55R	0.595
19:49690265:G:C	W78C	0.578
19:49690265:G:T	W78C	0.578

dbSNP variants (sampled 300 via entrez): RS1000295101 (19:49688085 C>A,G,T), RS1002354651 (19:49690828 C>G), RS1002488473 (19:49689618 C>T), RS1003495234 (19:49688681 C>A,T), RS1003505015 (19:49688825 T>C,G), RS1005313796 (19:49690633 C>A,G,T), RS1006352744 (19:49689581 C>G,T), RS1006778291 (19:49690549 C>A), RS1007138731 (19:49690305 C>A,T), RS1008196555 (19:49689295 T>C), RS1008788394 (19:49688364 G>A,C,T), RS1009584011 (19:49688064 A>G), RS1010137650 (19:49689997 T>A), RS1010611874 (19:49690335 G>A), RS1010641645 (19:49690546 G>C)

Disease associations

OMIM: gene MIM:621171 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006803_99	Schizophrenia	4.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Estradiol	increases expression	1
Methotrexate	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Potassium Chloride	increases expression, decreases response to substance	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression	1
Dronabinol	decreases response to substance, increases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1
Copper Sulfate	increases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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