MAMDC2

Summary

MAMDC2 (MAM domain containing 2, HGNC:23673) is a protein-coding gene on chromosome 9q21.12, encoding MAM domain-containing protein 2 (Q7Z304).

Predicted to enable glycosaminoglycan binding activity. Located in endoplasmic reticulum.

Source: NCBI Gene 256691 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• Gene–disease (curated): muscular dystrophy (Moderate, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 109 total
• GTEx eGene: eQTL in 29 tissues, sQTL in 18 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.86 (unconstrained)
• MANE Select transcript: NM_153267
• Notable: 109 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23673
Approved symbol	MAMDC2
Name	MAM domain containing 2
Location	9q21.12
Locus type	gene with protein product
Status	Approved
Aliases	MGC21981
Ensembl gene	ENSG00000165072
Ensembl biotype	protein_coding
OMIM	612879
Entrez	256691

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 14 protein_coding, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000377182

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

ENST00000377182, ENST00000460688, ENST00000864379, ENST00000864380, ENST00000864381, ENST00000911415, ENST00001001461, ENST00001015511, ENST00001015512, ENST00001015513, ENST00001110030, ENST00001114462, ENST00001120674, ENST00001120675, ENST00001120676, ENST00001126433, ENST00001126434, ENST00001126435, ENST00001138521

RefSeq mRNA: 2 — MANE Select: NM_153267 NM_001347990, NM_153267

CCDS: CCDS6631

Canonical transcript exons

ENST00000377182 — 14 exons

Exon	Start	End
ENSE00000917491	70170479	70170631
ENSE00000982756	70218337	70218596
ENSE00000982757	70225750	70225834
ENSE00001128960	70168702	70168795
ENSE00001208303	70143554	70143819
ENSE00001356398	70140145	70140288
ENSE00001356402	70131519	70131612
ENSE00001356406	70126159	70126415
ENSE00001356409	70112995	70113132
ENSE00001356412	70109720	70109804
ENSE00001356418	70108211	70108482
ENSE00001356423	70044584	70044697
ENSE00001473031	70225968	70226972
ENSE00001473053	70043848	70044231

Expression profiles

Bgee: expression breadth ubiquitous, 221 present calls, max score 98.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.1959 / max 1464.8753, expressed in 977 samples.

Highest expression (Bgee): mucosa of stomach, synovial joint, lower lobe of lung, lung, cauda epididymis.

Genetic regulation across tissues (GTEx eQTL / sQTL)

MAMDC2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 29 tissues and its splicing (sQTL) in 18 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 47 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Nerve Tibial	sqtl	5.2e-57	-1.76	9:70210206:C:T
Lung	sqtl	1.3e-22	-1.09	9:70178029:G:C
Thyroid	sqtl	6.5e-18	-1.15	9:70208125:G:T
Artery Aorta	eqtl	1.0e-15	-0.33	9:69991497:C:T
Skin Not Sun Exposed Suprapubic	sqtl	9.5e-13	-0.99	9:70210206:C:T
Artery Tibial	sqtl	5.1e-11	-0.81	9:70182765:C:A
Brain Cerebellum	eqtl	2.9e-09	+0.62	9:70168349:G:T
Cells Cultured fibroblasts	eqtl	3.9e-09	+0.17	9:69990346:C:T
Lung	eqtl	1.6e-08	+0.22	9:69997018:G:C
Nerve Tibial	eqtl	3.3e-08	-0.16	9:70070379:C:G
Muscle Skeletal	sqtl	4.4e-08	-0.77	9:70199441:A:C
Heart Left Ventricle	sqtl	4.8e-08	-1.05	9:70210206:C:T
Brain Cerebellar Hemisphere	eqtl	4.0e-07	+0.57	9:70168349:G:T
Esophagus Muscularis	eqtl	1.4e-06	-0.16	9:70060433:A:G
Esophagus Mucosa	sqtl	1.7e-06	-0.76	9:70148661:G:A
Pancreas	eqtl	1.8e-06	+0.32	9:70074443:T:C
Adipose Visceral Omentum	eqtl	6.3e-06	+0.20	9:69980085:A:G
Prostate	sqtl	6.7e-06	-1.20	9:70221247:C:T
Pancreas	sqtl	7.7e-06	-0.95	9:70240106:C:T
Esophagus Muscularis	sqtl	9.8e-06	-0.83	9:70208125:G:T

FANTOM5 promoters

showing 10 of 14 alternative TSS:

Promoter ID	TPM avg	Samples expressed
96857	6.4199	603
96858	3.0574	544
96856	1.9417	435
96859	1.5844	527
96860	0.7318	341
96862	0.7160	335
96851	0.7115	158
96854	0.3249	176
96861	0.1756	105
96855	0.1302	59

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	98.54	gold quality
synovial joint	UBERON:0002217	98.46	gold quality
lower lobe of lung	UBERON:0008949	97.32	gold quality
right lung	UBERON:0002167	97.07	gold quality
cauda epididymis	UBERON:0004360	96.13	gold quality
layer of synovial tissue	UBERON:0007616	95.95	gold quality
decidua	UBERON:0002450	95.84	gold quality
left uterine tube	UBERON:0001303	95.77	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.64	gold quality
body of uterus	UBERON:0009853	95.13	gold quality
upper arm skin	UBERON:0004263	94.96	gold quality
calcaneal tendon	UBERON:0003701	94.72	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.16	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.03	gold quality
lower esophagus	UBERON:0013473	93.95	gold quality
urethra	UBERON:0000057	93.60	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.56	gold quality
oral cavity	UBERON:0000167	93.48	gold quality
skin of hip	UBERON:0001554	93.24	gold quality
left ovary	UBERON:0002119	92.68	gold quality
right ovary	UBERON:0002118	92.57	gold quality
pharyngeal mucosa	UBERON:0000355	92.15	gold quality
corpus epididymis	UBERON:0004359	91.78	gold quality
tendon of biceps brachii	UBERON:0008188	91.72	gold quality
lung	UBERON:0002048	91.69	gold quality
myometrium	UBERON:0001296	91.54	gold quality
endocervix	UBERON:0000458	91.45	gold quality
tendon	UBERON:0000043	91.16	gold quality
upper lobe of lung	UBERON:0008948	91.02	gold quality
mammary duct	UBERON:0001765	90.81	gold quality
upper lobe of left lung	UBERON:0008952	90.72	gold quality
popliteal artery	UBERON:0002250	90.60	gold quality
caput epididymis	UBERON:0004358	90.60	gold quality
tibial artery	UBERON:0007610	90.59	gold quality
epithelium of mammary gland	UBERON:0003244	90.52	gold quality
left ventricle myocardium	UBERON:0006566	90.06	gold quality
smooth muscle tissue	UBERON:0001135	89.51	gold quality
pericardium	UBERON:0002407	89.27	gold quality
saphenous vein	UBERON:0007318	89.20	gold quality
ovary	UBERON:0000992	88.97	gold quality
adult organism	UBERON:0007023	88.96	gold quality
body of tongue	UBERON:0011876	88.58	gold quality
fundus of stomach	UBERON:0001160	88.44	gold quality
thoracic mammary gland	UBERON:0005200	88.32	gold quality
upper leg skin	UBERON:0004262	88.28	gold quality
uterine cervix	UBERON:0000002	88.16	gold quality
fallopian tube	UBERON:0003889	88.10	gold quality
mammary gland	UBERON:0001911	88.09	gold quality
ectocervix	UBERON:0012249	87.89	gold quality
urinary bladder	UBERON:0001255	87.82	gold quality
mammalian vulva	UBERON:0000997	87.35	gold quality
seminal vesicle	UBERON:0000998	87.31	gold quality
colonic epithelium	UBERON:0000397	87.28	gold quality
colon	UBERON:0001155	87.21	gold quality
large intestine	UBERON:0000059	87.06	gold quality
intestine	UBERON:0000160	86.17	gold quality
visceral pleura	UBERON:0002401	86.17	gold quality
esophagus	UBERON:0001043	86.00	gold quality
subcutaneous adipose tissue	UBERON:0002190	85.97	gold quality
transverse colon	UBERON:0001157	85.89	gold quality
left coronary artery	UBERON:0001626	85.87	gold quality
tibial nerve	UBERON:0001323	85.84	gold quality
pylorus	UBERON:0001166	85.74	gold quality
aorta	UBERON:0000947	85.61	gold quality
tibia	UBERON:0000979	85.51	gold quality
palpebral conjunctiva	UBERON:0001812	85.36	gold quality
adipose tissue	UBERON:0001013	85.23	gold quality
ventricular zone	UBERON:0003053	85.21	gold quality
deltoid	UBERON:0001476	85.06	silver quality
parietal pleura	UBERON:0002400	84.86	gold quality
female reproductive system	UBERON:0000474	84.80	gold quality
gall bladder	UBERON:0002110	84.79	gold quality
cardiac atrium	UBERON:0002081	84.78	gold quality
uterus	UBERON:0000995	84.69	gold quality
tibialis anterior	UBERON:0001385	84.61	silver quality
coronary artery	UBERON:0001621	84.50	gold quality
small intestine Peyer’s patch	UBERON:0003454	84.36	gold quality
tongue	UBERON:0001723	84.26	gold quality
cardia of stomach	UBERON:0001162	84.21	gold quality
right atrium auricular region	UBERON:0006631	84.21	gold quality
epithelial cell of pancreas	CL:0000083	84.18	silver quality
small intestine	UBERON:0002108	84.14	gold quality
body of stomach	UBERON:0001161	84.00	gold quality
stomach	UBERON:0000945	83.97	gold quality
rectum	UBERON:0001052	83.94	gold quality
mucosa of sigmoid colon	UBERON:0004993	83.84	gold quality
vagina	UBERON:0000996	83.77	gold quality
right uterine tube	UBERON:0001302	83.77	gold quality
superior surface of tongue	UBERON:0007371	83.48	gold quality
myocardium	UBERON:0002349	83.36	gold quality
oviduct epithelium	UBERON:0004804	82.66	gold quality
muscle tissue	UBERON:0002385	82.46	gold quality
vena cava	UBERON:0004087	82.12	gold quality
heart right ventricle	UBERON:0002080	81.95	gold quality
adipose tissue of abdominal region	UBERON:0007808	81.86	gold quality
peritoneum	UBERON:0002358	81.73	gold quality
omental fat pad	UBERON:0010414	81.70	gold quality
right coronary artery	UBERON:0001625	81.63	gold quality
zone of skin	UBERON:0000014	81.05	gold quality
heart	UBERON:0000948	80.97	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	30.09

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 78 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Endometrium 1	tissue	36.6	medium
Lung	tissue	30.9	medium
Cervix	tissue	28.6	low
Ovary	tissue	28.5	not detected
Smooth muscle	tissue	23.7	medium
Esophagus	tissue	19.9	low
Fallopian tube	tissue	18.4	low
Epididymis	tissue	18.1	medium
Vagina	tissue	17.8	not detected
Tongue	tissue	16.0
Spleen	tissue	15.2	medium
Breast	tissue	14.6	medium
Adipose tissue	tissue	14.4	not detected
Small intestine	tissue	13.8	medium
Colon	tissue	13.7	medium
Gallbladder	tissue	12.2	medium
Rectum	tissue	11.6	medium
Urinary bladder	tissue	10.8	medium
Heart muscle	tissue	10.4	medium
Seminal vesicle	tissue	10.2	medium
Superior colliculi	tissue	9.5
Stomach 1	tissue	9.1	medium
Duodenum	tissue	7.9	medium
Adrenal gland	tissue	7.7	medium
Cerebellum	tissue	7.2	medium
Prostate	tissue	7.2	medium
Testis	tissue	7.0	medium
Midbrain	tissue	6.3
Skeletal muscle	tissue	6.2	not detected
Thalamus	tissue	6.2
Choroid plexus	tissue	6.0
Skin 1	tissue	5.5	not detected
Spinal cord	tissue	5.4
Retina	tissue	5.3
Thyroid gland	tissue	5.3	low
Placenta	tissue	4.1	medium
Postcentral gyrus	tissue	3.5
Substantia nigra	tissue	2.9
Tonsil	tissue	2.9	medium
Medulla oblongata	tissue	2.8
Pancreas	tissue	2.5	medium
Kidney	tissue	2.4	medium
Locus coeruleus	tissue	2.4
Pons	tissue	2.2
Hippocampal formation	tissue	2.2
Olfactory bulb	tissue	2.1
Hippocampus	tissue	1.9	low
Salivary gland	tissue	1.8	low
Periaqueductal gray	tissue	1.8
Parathyroid gland	tissue	1.7	medium
Putamen	tissue	1.6
Nucleus accumbens	tissue	1.6
Thymus	tissue	1.5
Hypothalamus	tissue	1.4
Entorhinal cortex	tissue	1.4
Cerebral cortex	tissue	1.3	low
Basal ganglia	tissue	1.3	low
Ventral forebrain	tissue	1.3
Temporal cortex	tissue	1.3
Corpus callosum	tissue	1.2

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Blood vessel (34.5), Dorsal spinal cord (5.4), Ventral spinal cord (5.2), Nucleus rhomboideus (4.8), Ventral posteromedial thalamic nucleus (4.6).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting MAMDC2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 91 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-300	99.92	71.76	2856

Functional genomics

gnomAD constraint: pLI 3.65e-12, LOEUF 0.857, missense Z 0.422 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000377182 — one region, missense o/e 0.97.

Literature-anchored findings (GeneRIF, showing 2)

• MAM domain containing 2 is a potential breast cancer biomarker that exhibits tumour-suppressive activity. (PMID:32707597)
• Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy. (PMID:37503746)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	mamdc2a	ENSDARG00000098345
mus_musculus	Mamdc2	ENSMUSG00000033207
rattus_norvegicus	Mamdc2	ENSRNOG00000024620

Paralogs (4): MDGA1 (ENSG00000112139), MDGA2 (ENSG00000139915), MAMDC4 (ENSG00000177943), MALRD1 (ENSG00000204740)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1918988) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 1 distinct phenotype terms.

Mouse phenotype (MP)	Records
decreased locomotor activity	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
Macaca fascicularis	Q9GMT4	99.6%	Diamond
Acropora millepora	B3EX02	83.9%	Diamond
Gallus gallus	Q0WYX8	79.0%	Diamond
Xenopus laevis	P28824	74.4%	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
MAMDC2-AS1	ncRNA	100507244
SMC5-DT	ncRNA	100507299
SMC5	protein-coding	23137
KLF9	protein-coding	687
CFAP95	protein-coding	138255
CFAP95-DT	ncRNA	494558
KLF9-DT	ncRNA	101927086
TRPM3	protein-coding	80036
PTAR1	protein-coding	375743

Protein

Protein identifiers

MAM domain-containing protein 2 — Q7Z304 (reviewed: Q7Z304)

Alternative names: MAM domain-containing proteoglycan

All UniProt accessions (1): Q7Z304

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Post-translational modifications. O-glycosylated.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z304-1	1	yes
Q7Z304-2	2

RefSeq proteins (2): NP_001334919, NP_694999* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000998	MAM_dom	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR051560	MAM_domain-containing	Family

Pfam: PF00629

UniProt features (14 total): domain 4, glycosylation site 3, sequence variant 2, region of interest 2, signal peptide 1, chain 1, splice variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z304-F1	84.97	0.57

Human Protein Atlas

Protein class: Predicted secreted proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nuclear speckles; plasma membrane

Antibody reliability (HPA): IH uncertain · IF approved

Functional residue map

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

Glycosylation sites (3)

Type	Positions
N-linked (glcnac…) asparagine	524, 134, 329

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: 120 (showing top): TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_6HR_DN, ATGCAGT_MIR217, AP1_Q4_01, BACH2_01, TGANTCA_AP1_C, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, SABATES_COLORECTAL_ADENOMA_DN, HAND1E47_01, VECCHI_GASTRIC_CANCER_EARLY_DN, RIGGI_EWING_SARCOMA_PROGENITOR_UP, HOXA4_Q2, ZHENG_BOUND_BY_FOXP3, chr9q21, MALONEY_RESPONSE_TO_17AAG_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

GO top-level categories

5 GO namespaces:

Category	Terms
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 3 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
endoplasmic reticulum	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 616 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAMDC2	PTPRM	P28827	469
MAMDC2	FAM163A	Q96GL9	456
MAMDC2	GPNMB	Q14956	428
MAMDC2	HPSE2	Q8WWQ2	408
MAMDC2	RAB21	Q9UL25	370
MAMDC2	NCAPD3	P42695	370
MAMDC2	SASH1	O94885	365
MAMDC2	NSUN3	Q9H649	358
MAMDC2	FRAS1	Q86XX4	342
MAMDC2	MRGPRF	Q96AM1	325
MAMDC2	TRAPPC8	Q9Y2L5	316
MAMDC2	CCBE1	Q6UXH8	316
MAMDC2	ZDHHC2	Q9UIJ5	307
MAMDC2	ABCA8	O94911	305
MAMDC2	CHRDL1	Q9BU40	297

IntAct

Human interaction partners of MAMDC2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

3 partners by confidence:

Partner	Interaction type	MIscore	Records
EFHC1	physical association	0.560	3
FLNA	physical association	0.400	1
CDAN1	association	0.350	1

BioGRID (13 interactions; top human partners by supporting records): CDAN1 (Affinity Capture-MS; 2 records), EIF4G1 (Affinity Capture-MS; 2 records), TK1 (Affinity Capture-MS; 2 records), DNAJB8 (Affinity Capture-MS), EFHC1 (Two-hybrid), KIAA1429 (Affinity Capture-RNA), MECP2 (Affinity Capture-MS), POLI (Reconstituted Complex), RNASEH2A (Affinity Capture-MS), TAB1 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for MAMDC2: 109 ClinVar records (0 pathogenic / likely pathogenic); 3 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	86
Likely benign	4
Benign	4

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 42 predictions of 1,678):

Position(s)	Effect	Δscore	Sites
9:70044695	donor_gain	1.0000
9:70044698–70044699	donor_loss	1.0000	5
9:70108209–70108210	acceptor_loss	1.0000	6
9:70108483–70108484	donor_loss	1.0000	3
9:70109710	acceptor_gain	1.0000
9:70109718–70109719	acceptor_loss	1.0000	5
9:70109805–70109806	donor_loss	1.0000	5
9:70112993–70112994	acceptor_loss	1.0000	6
9:70113133–70113134	donor_loss	1.0000	5
9:70131613–70131614	donor_loss	1.0000	5

AlphaMissense

1,221 missense substitutions predicted likely pathogenic (of 4,511 scored), across 320 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
D318	8	0.966	0.989
F172	8	0.962	0.996
D655	8	0.951	0.978
F511	8	0.945	0.988
D207	8	0.937	0.980
D545	8	0.935	0.975
D651	8	0.922	0.962
F28	8	0.920	0.983
F344	8	0.918	0.977
D487	8	0.915	0.972
F414	8	0.905	0.991
F249	8	0.904	0.988
F471	8	0.881	0.994
D374	8	0.850	0.941
F303	8	0.825	0.981
H546	8	0.786	0.951
C170	7	0.987	0.997
C178	7	0.987	0.994
C475	7	0.986	0.994
W190	7	0.980	0.999

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene MIM:612879 | disease phenotypes:

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
muscular dystrophy	Moderate	Autosomal dominant	2

Mondo (1): muscular dystrophy (MONDO:0020121)

GWAS associations

3 associations:

Study	Trait	p-value
GCST011390_4	Corneal resistance factor	2e-55
GCST005580_291	Intraocular pressure	1e-11
GCST005580_133	Intraocular pressure	2e-10

EFO canonical traits (from GWAS)

2 canonical traits:

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement
EFO:0010067	corneal resistance factor

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D009136	Muscular Dystrophies	C05.651.534.500; C10.668.491.175.500; C16.320.577

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment, decreases expression, affects expression	5
bisphenol A	affects cotreatment, decreases methylation, decreases expression	3
trichostatin A	decreases expression, affects cotreatment	3
Air Pollutants	increases abundance, decreases expression	3
Particulate Matter	decreases expression, increases abundance	3
sodium arsenite	decreases expression	2
entinostat	decreases expression, affects cotreatment	2
monomethylarsonous acid	decreases expression, increases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
bisphenol F	affects cotreatment, increases expression	1
methylmercuric chloride	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
hydroxyhydroquinone	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sulforaphane	decreases expression	1
triadimefon	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
2,2’,4,4’,5-brominated diphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
bisphenol S	increases expression	1
incobotulinumtoxinA	affects expression	1
bisphenol AF	increases expression	1
Dasatinib	increases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	increases expression	1

Clinical trials (associated diseases)

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

showing 60 of 432 trials:

NCT	Phase	Status	Title
NCT01882400	Phase 4	COMPLETED	Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy
NCT00029224	Phase 4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	Phase 4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	Phase 4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	Phase 4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	Phase 4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	Phase 4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	Phase 4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	Phase 4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	Phase 4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	Phase 4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	Phase 4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	Phase 4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	Phase 4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	Phase 4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	Phase 4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	Phase 4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	Phase 4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	Phase 4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	Phase 4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	Phase 4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	Phase 4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	Phase 4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	Phase 4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	Phase 4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	Phase 4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	Phase 4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	Phase 4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	Phase 4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	Phase 4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	Phase 4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	Phase 4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	Phase 4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	Phase 4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	Phase 4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	Phase 4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	Phase 4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	Phase 4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	Phase 4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	Phase 4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	Phase 4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer
NCT01673984	Phase 4	TERMINATED	GP Extended Action Triptorelin
NCT01753297	Phase 4	COMPLETED	A Study of Immediate 9 Months Adjuvant Hormone Therapy With Triptorelin 11.25 mg Versus Active Surveillance After Radical Prostatectomy in High Risk Prostate Cancer Patients.
NCT01794793	Phase 4	COMPLETED	Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in Novartis-sponsored Studies
NCT01950871	Phase 4	TERMINATED	Prostate Guided Biopsy Study Evaluating the Diagnostic Performance of Prostate HistoScanning
NCT01995513	Phase 4	COMPLETED	Safety Study of Continued Enzalutamide Treatment In Prostate Cancer Patients
NCT02102646	Phase 4	COMPLETED	MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism
NCT02116582	Phase 4	COMPLETED	A Study to Evaluate Enzalutamide After Abiraterone in Metastatic Castration-Resistant Prostate Cancer
NCT02149628	Phase 4	COMPLETED	The Effect of Propofol Based Total Intravenous Anesthesia on Oxidative Stress and Nitric Oxide
NCT02405858	Phase 4	COMPLETED	A Study of Abiraterone Acetate in Metastatic Castration-Resistant Prostate Cancer Participants Who Responded Poorly to the First-line Combined Androgen Blockade Therapy
NCT02441517	Phase 4	TERMINATED	A Study of Enzalutamide Re-treatment in Metastatic Castration-resistant Prostate Cancer After Docetaxel and/or Cabazitaxel Treatment
NCT02441894	Phase 4	COMPLETED	Combination of Cabazitaxel With Prednisolone With Primary Prophylaxis With PEG-G-CSF in Treatment of Patients With Prostate Cancer
NCT02475057	Phase 4	COMPLETED	Endothelial Function in Prostate Cancer Patients on Degarelix vs. Luteinizing Hormone-Releasing Hormone Agonists
NCT02511665	Phase 4	UNKNOWN	Metformin And Longevity
NCT02651948	Phase 4	COMPLETED	Transperineal, MRI-guided, Prostate Biopsy
NCT02721433	Phase 4	COMPLETED	4-weekly Versus 12-weekly Administration of Bone-targeted Agents in Patients With Bone Metastases
NCT02726009	Phase 4	COMPLETED	A Trial to Evaluate Safety of Firmagon® (Degarelix) in Indian Patients Diagnosed With Advanced Hormone-dependent Prostate Cancer
NCT02749825	Phase 4	TERMINATED	Comparison of Trelstar Versus Lupron or Zoladex in Advanced Prostate Cancer
NCT02757365	Phase 4	UNKNOWN	Efficiency Study of Aspirin to Prevent the Occurrence of Prostate Cancer
NCT02773251	Phase 4	COMPLETED	The Effect of Guardix-solution for the Prevention of Postoperative Intestinal Adhesion and Intestinal Obstruction After Laparoscopic Pelvic Cavity Surgery