MYADML2

Summary

MYADML2 (myeloid associated differentiation marker like 2, HGNC:34548) is a protein-coding gene on chromosome 17q25.3, encoding Myeloid-associated differentiation marker-like protein 2 (A6NDP7).

Located in cytoplasm.

Source: NCBI Gene 255275 — RefSeq curated summary.

At a glance

• Gene–disease (curated): connective tissue disorder (Limited, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 76 total
• MANE Select transcript: NM_001145113

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34548
Approved symbol	MYADML2
Name	myeloid associated differentiation marker like 2
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	LOC255275
Ensembl gene	ENSG00000185105
Ensembl biotype	protein_coding
Entrez	255275

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000409745, ENST00000858967

RefSeq mRNA: 1 — MANE Select: NM_001145113 NM_001145113

CCDS: CCDS45815

Canonical transcript exons

ENST00000409745 — 3 exons

Exon	Start	End
ENSE00001578100	81947059	81947233
ENSE00001578578	81939645	81941843
ENSE00001586627	81942296	81942373

Expression profiles

Bgee: expression breadth broad, 84 present calls, max score 93.39.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	93.39	gold quality
gastrocnemius	UBERON:0001388	85.23	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	85.21	gold quality
muscle of leg	UBERON:0001383	84.64	gold quality
skeletal muscle tissue	UBERON:0001134	81.23	gold quality
apex of heart	UBERON:0002098	80.16	gold quality
biceps brachii	UBERON:0001507	78.71	gold quality
quadriceps femoris	UBERON:0001377	78.11	silver quality
vastus lateralis	UBERON:0001379	78.10	silver quality
epithelial cell of pancreas	CL:0000083	77.07	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	76.58	gold quality
muscle tissue	UBERON:0002385	74.46	gold quality
prefrontal cortex	UBERON:0000451	71.19	gold quality
buccal mucosa cell	CL:0002336	71.11	gold quality
deltoid	UBERON:0001476	70.16	silver quality
tendon of biceps brachii	UBERON:0008188	69.22	gold quality
heart left ventricle	UBERON:0002084	67.78	gold quality
right frontal lobe	UBERON:0002810	67.20	gold quality
cardiac ventricle	UBERON:0002082	67.14	gold quality
Brodmann (1909) area 9	UBERON:0013540	67.08	gold quality
putamen	UBERON:0001874	65.02	gold quality
anterior cingulate cortex	UBERON:0009835	65.00	gold quality
frontal cortex	UBERON:0001870	64.80	gold quality
nucleus accumbens	UBERON:0001882	64.76	gold quality
cerebellar vermis	UBERON:0004720	64.33	gold quality
caudate nucleus	UBERON:0001873	64.09	gold quality
neocortex	UBERON:0001950	64.01	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	63.69	gold quality
hypothalamus	UBERON:0001898	63.16	gold quality
superficial temporal artery	UBERON:0001614	62.88	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.71

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles. (PMID:32778762)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myadml2	ENSDARG00000053953
mus_musculus	Myadml2	ENSMUSG00000025141
rattus_norvegicus	Myadml2	ENSRNOG00000036681

Paralogs (1): MYADM (ENSG00000179820)

Protein

Protein identifiers

Myeloid-associated differentiation marker-like protein 2 — A6NDP7 (reviewed: A6NDP7)

All UniProt accessions (1): A6NDP7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the MAL family.

RefSeq proteins (1): NP_001138585* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008253	Marvel	Domain
IPR047123	MYADM-like	Family

Pfam: PF01284

UniProt features (11 total): transmembrane region 7, domain 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NDP7-F1	86.63	0.56

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 16 (showing top): MIR4755_5P, MIR5006_3P, MIR4446_5P, DESCARTES_FETAL_MUSCLE_SKELETAL_MUSCLE_CELLS, GSE2706_R848_VS_LPS_8H_STIM_DC_UP, GSE2706_R848_VS_R848_AND_LPS_8H_STIM_DC_UP, GSE4142_NAIVE_VS_MEMORY_BCELL_UP, GSE8921_UNSTIM_0H_VS_TLR1_2_STIM_MONOCYTE_3H_DN, GSE6259_FLT3L_INDUCED_VS_WT_SPLENIC_DC_33D1_POS_DN, chr17q25, GSE36888_STAT5_AB_KNOCKIN_VS_WT_TCELL_IL2_TREATED_6H_UP, GSE32901_TH1_VS_TH17_ENRICHED_CD4_TCELL_UP, GSE40274_CTRL_VS_FOXP3_AND_SATB1_TRANSDUCED_ACTIVATED_CD4_TCELL_DN, GSE40274_FOXP3_VS_FOXP3_AND_SATB1_TRANSDUCED_ACTIVATED_CD4_TCELL_UP, GSE40274_FOXP3_VS_FOXP3_AND_XBP1_TRANSDUCED_ACTIVATED_CD4_TCELL_UP

GO Biological Process (0):

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

GO Cellular Component (2): cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

280 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYADML2	MALL	Q13021	520
MYADML2	MOB3C	Q70IA8	505
MYADML2	PCYT2	Q99447	491
MYADML2	LMF1	Q96S06	475
MYADML2	CMTM8	Q8IZV2	467
MYADML2	ARHGEF35	A5YM69	422
MYADML2	FAM220A	Q7Z4H9	417
MYADML2	COPS3	Q9UNS2	409
MYADML2	MARVELD1	Q9BSK0	405
MYADML2	RASD1	Q9Y272	403
MYADML2	KCTD19	Q17RG1	396
MYADML2	CMTM2	Q8TAZ6	391
MYADML2	CMTM1	Q8IZ96	389
MYADML2	ADAP1	O75689	389
MYADML2	RABAC1	Q9UI14	383

IntAct

34 interactions, top by confidence:

A	B	Type	Score
MYADML2	COMT	psi-mi:“MI:0915”(physical association)	0.560
MYADML2	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560
MYADML2	RNF185	psi-mi:“MI:0915”(physical association)	0.560
MYADML2	SLC10A1	psi-mi:“MI:0915”(physical association)	0.560
MYADML2	EVI2B	psi-mi:“MI:0915”(physical association)	0.560
MYADML2	ARL13B	psi-mi:“MI:0915”(physical association)	0.560
MYADML2	AQP6	psi-mi:“MI:0915”(physical association)	0.560
MYADML2	GPR152	psi-mi:“MI:0915”(physical association)	0.560
MYADML2	GPX8	psi-mi:“MI:0915”(physical association)	0.560
MYADML2	CD79A	psi-mi:“MI:0915”(physical association)	0.560
MYADML2	FAM209A	psi-mi:“MI:0915”(physical association)	0.560
MYADML2	RNF185	psi-mi:“MI:0915”(physical association)	0.000
MYADML2	EVI2B	psi-mi:“MI:0915”(physical association)	0.000
MYADML2	ARL13B	psi-mi:“MI:0915”(physical association)	0.000
MYADML2	AQP6	psi-mi:“MI:0915”(physical association)	0.000
MYADML2	GPR152	psi-mi:“MI:0915”(physical association)	0.000
MYADML2	GPX8	psi-mi:“MI:0915”(physical association)	0.000
MYADML2	FAM209A	psi-mi:“MI:0915”(physical association)	0.000
MYADML2	SLC10A1	psi-mi:“MI:0915”(physical association)	0.000
MYADML2	CD79A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): MYADML2 (Two-hybrid), MYADML2 (Two-hybrid), MYADML2 (Two-hybrid), MYADML2 (Two-hybrid), MYADML2 (Two-hybrid), MYADML2 (Two-hybrid), MYADML2 (Two-hybrid), MYADML2 (Two-hybrid), MYADML2 (Two-hybrid), MYADML2 (Two-hybrid), EVI2B (Two-hybrid)

ESM2 similar proteins: A6H7B8, A6NC51, A6NDP7, A7MBB3, A8KBG2, A8XST1, A9JSP6, B2RZ87, C1BKZ7, E9Q9H8, P27922, Q08AU7, Q08DL4, Q22141, Q29M88, Q2ABP2, Q2ABP3, Q32PK2, Q3TQR0, Q3ZC48, Q49LS7, Q4V7T3, Q4V7T7, Q4VV71, Q5BK09, Q5BL33, Q5EAK8, Q5M9A7, Q5RCN7, Q5T9Z0, Q5XGR0, Q6NRS6, Q6PDC8, Q6UW68, Q6UX65, Q7TQJ1, Q810U2, Q8C0T0, Q8CHM9, Q8K0H7

Diamond homologs: A6NDP7, B2RZ87, O35682, Q08AU7, Q08DL4, Q5R6H1, Q5XGR0, Q63ZU3, Q6DFR5, Q6VBQ5, Q96S97

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

537 predictions. Top by Δscore:

Variant	Effect	Δscore
17:81947123:G:A	donor_gain	0.9700
17:81941916:CAGCG:C	acceptor_gain	0.9500
17:81941921:C:CC	acceptor_gain	0.9500
17:81947053:ACAT:A	donor_loss	0.9500
17:81947054:CAT:C	donor_loss	0.9500
17:81947055:ATAC:A	donor_loss	0.9500
17:81947056:TA:T	donor_loss	0.9500
17:81947057:ACCAG:A	donor_loss	0.9500
17:81947057:A:AC	donor_gain	0.9300
17:81947058:C:CC	donor_gain	0.9300
17:81941919:CG:C	acceptor_gain	0.8900
17:81941917:AGCGC:A	acceptor_loss	0.8400
17:81941918:GCGC:G	acceptor_loss	0.8400
17:81941919:CGCT:C	acceptor_loss	0.8400
17:81941920:GCTA:G	acceptor_loss	0.8400
17:81941921:C:CA	acceptor_loss	0.8400
17:81941922:T:G	acceptor_loss	0.8400
17:81947216:TGGG:T	donor_gain	0.8400
17:81947058:CCAG:C	donor_gain	0.8200
17:81941927:A:C	acceptor_loss	0.8100
17:81942294:ACC:A	donor_gain	0.8100
17:81942295:CCC:C	donor_gain	0.8100
17:81941918:GCG:G	acceptor_gain	0.8000
17:81941919:CGC:C	acceptor_gain	0.8000
17:81942113:T:TC	acceptor_gain	0.8000
17:81942113:T:C	acceptor_gain	0.7900
17:81947058:CCAGG:C	donor_gain	0.7900
17:81941924:TAAA:T	acceptor_loss	0.7800
17:81942374:CTG:C	acceptor_gain	0.7800
17:81942384:C:CT	acceptor_gain	0.7600

AlphaMissense

1953 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:81941010:G:C	S244R	0.996
17:81941010:G:T	S244R	0.996
17:81941012:T:G	S244R	0.996
17:81940881:G:C	N287K	0.994
17:81940881:G:T	N287K	0.994
17:81941238:C:A	K168N	0.991
17:81941238:C:G	K168N	0.991
17:81940997:A:G	W249R	0.987
17:81940997:A:T	W249R	0.987
17:81940920:C:A	W274C	0.986
17:81940920:C:G	W274C	0.986
17:81941136:G:C	S202R	0.986
17:81941136:G:T	S202R	0.986
17:81941138:T:G	S202R	0.986
17:81941628:G:C	S38R	0.986
17:81941628:G:T	S38R	0.986
17:81941630:T:G	S38R	0.986
17:81941248:C:T	G165E	0.985
17:81940986:G:C	F252L	0.984
17:81940986:G:T	F252L	0.984
17:81940988:A:G	F252L	0.984
17:81941156:A:G	W196R	0.984
17:81941156:A:T	W196R	0.984
17:81940995:C:A	W249C	0.983
17:81940995:C:G	W249C	0.983
17:81941151:G:C	C197W	0.982
17:81940861:T:A	D294V	0.981
17:81941570:A:G	W58R	0.981
17:81941570:A:T	W58R	0.981
17:81941153:A:G	C197R	0.979

dbSNP variants (sampled 300 via entrez): RS1000947527 (17:81939763 C>A,G), RS1001333915 (17:81940187 G>A), RS1001357101 (17:81940405 T>G), RS1001604948 (17:81944234 GTC>G), RS1001620193 (17:81944832 C>G), RS1001827030 (17:81948781 A>C), RS1001870442 (17:81940168 G>C), RS1002019841 (17:81948737 C>T), RS1003674284 (17:81947974 G>C,T), RS1003904669 (17:81947381 G>T), RS1003928645 (17:81943392 TTTTTTTTC>T,TTTTTTTTCTTTTTTTC), RS1004108057 (17:81947688 A>G), RS1004158913 (17:81948021 A>G), RS1004233407 (17:81946462 C>A,G,T), RS1004396861 (17:81943677 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
connective tissue disorder	Limited	Autosomal recessive

Mondo (1): connective tissue disorder (MONDO:0003900)

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008362_24	Birth weight	1.000000e-11
GCST012230_124	Waist-to-hip ratio adjusted for BMI	5.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004344	birth weight
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D003240	Connective Tissue Diseases	C17.300

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ethyl-p-hydroxybenzoate	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Leflunomide	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Triclosan	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01042158	PHASE4	COMPLETED	A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04197050	PHASE4	UNKNOWN	Effect of Sacubitril/Valsartan on Reduced Right Ventricular Ejection Fraction in Patients With CTD
NCT04928586	PHASE4	UNKNOWN	Immunosuppressant Combined With Pirfenidone in CTD-ILD
NCT05440240	PHASE4	RECRUITING	Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren’s Contracture
NCT05505409	PHASE4	UNKNOWN	Efficacy and Safety of Pirfenidone in CTD-ILD
NCT06499233	PHASE4	RECRUITING	Efficacy and Safety of Prophylactic Treatment for Pneumocystis Jirovecii Pneumonia in Patients With Autoimmune Inflammatory Rheumatic Disease
NCT00864201	PHASE3	UNKNOWN	A Study to Evaluate the Use of Bosentan in Patients With Exercise Induced Pulmonary Arterial Hypertension Associated With Connective Tissue Disease
NCT01196091	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01205438	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01488708	PHASE3	TERMINATED	On Open-Label Study in Participants With Systemic Lupus Erythematosus
NCT03626688	PHASE3	COMPLETED	A Study Evaluating the Efficacy and Safety of Ralinepag to Improve Treatment Outcomes in PAH Patients
NCT03683186	PHASE3	ENROLLING_BY_INVITATION	A Study Evaluating the Long-Term Efficacy and Safety of Ralinepag in Subjects With PAH Via an Open-Label Extension
NCT04084678	PHASE3	TERMINATED	A Study of Ralinepag to Evaluate Effects on Exercise Capacity by CPET in Subjects With WHO Group 1 PH
NCT06716606	PHASE3	RECRUITING	A Study to Investigate the Long-term Safety and Efficacy of Belimumab in Adults With Interstitial Lung Disease (ILD) Associated With Systemic Sclerosis (SSc) and Other Connective Tissue Diseases (CTD) (BLISSconneCTD-OLE)
NCT06917690	PHASE3	RECRUITING	A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
NCT00004357	PHASE2	COMPLETED	Absorption of Corticosteroids in Children With Juvenile Dermatomyositis
NCT00005675	PHASE2	COMPLETED	Oral Type I Collagen for Relieving Scleroderma
NCT01808196	PHASE2	COMPLETED	Testing Effectiveness of Losartan in Patients With EoE With or Without a CTD
NCT02682511	PHASE2	ACTIVE_NOT_RECRUITING	Oral Ifetroban to Treat Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension
NCT04993885	PHASE2	RECRUITING	Avatrombopag in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies
NCT05516758	PHASE2	TERMINATED	A Study of Peresolimab (LY3462817) in Participants With Moderately-to-Severely Active Rheumatoid Arthritis
NCT05998759	PHASE2	RECRUITING	Telitacicept for the Treatment of Connective Tissue Disease-associated Thrombocytopenia
NCT06104228	PHASE2	RECRUITING	129 Xenon MRI as a Biomarker for Diagnosis and Response to Therapy in Pulmonary Arterial Hypertension (PAH)
NCT01093911	PHASE1	COMPLETED	Safety Study of CDP7657 in Healthy Volunteers and Patients With Systemic Lupus Erythematosus (SLE)
NCT01764594	PHASE1	COMPLETED	Safety Study of CDP7657 in Patients With Systemic Lupus Erythematosus
NCT02392130	PHASE1	COMPLETED	A Clinical Trial to Assess the Potential of LEO 130852A Gel to Reduce Steroid Induced Skin Atrophy on Healthy Skin
NCT03337165	PHASE1	COMPLETED	Autologous Tolerogenic Dendritic Cells for Treatment of Patients With Rheumatoid Arthritis
NCT03929120	PHASE1	COMPLETED	Allogeneic Bone Marrow Mesenchymal Stem Cells for Patients With Interstitial Lung Disease (ILD) & Connective Tissue Disorders (CTD)
NCT01424033	PHASE2/PHASE3	TERMINATED	A Clinical Trial for CTD-ILD Treatment
NCT04915482	PHASE2/PHASE3	UNKNOWN	TPO-RAs Combined With Anti-CD20 Antibody in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies
NCT06574581	PHASE1/PHASE2	RECRUITING	ADSCs Therapy in Patients With CTD-ILD
NCT00001330	Not specified	COMPLETED	Study of Silicone-Associated Connective Tissue Diseases
NCT00001641	Not specified	COMPLETED	Study of Heritable Connective Tissue Disorders
NCT00001978	Not specified	TERMINATED	Determination of Kidney Function
NCT00076830	Not specified	COMPLETED	Evaluation and Treatment of Patients With Connective Tissue Disease
NCT00341679	Not specified	COMPLETED	Studies of the Natural History and Pathogenesis of Autoimmune/Connective Tissue Diseases
NCT00470327	Not specified	RECRUITING	A Study of the Natural Progression of Interstitial Lung Disease (ILD)
NCT00491309	Not specified	UNKNOWN	Exercise and Respiratory Therapy in Patients With Rheumatoid Arthritis / Collagenosis and Pulmonary Hypertension