CADM4

gene
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Also known as TSLL2Necl-4SynCAM4

Summary

CADM4 (cell adhesion molecule 4, HGNC:30825) is a protein-coding gene on chromosome 19q13.31, encoding Cell adhesion molecule 4 (Q8NFZ8). Involved in the cell-cell adhesion. It is a selective cancer dependency (DepMap: 10.8% of cell lines).

Enables vascular endothelial growth factor receptor 2 binding activity. Involved in several processes, including negative regulation of protein phosphorylation; regulation of Rac protein signal transduction; and regulation of wound healing. Located in cell leading edge and cell-cell contact zone.

Source: NCBI Gene 199731 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 56 total
  • Cancer dependency (DepMap): dependent in 10.8% of screened cell lines
  • MANE Select transcript: NM_145296

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30825
Approved symbolCADM4
Namecell adhesion molecule 4
Location19q13.31
Locus typegene with protein product
StatusApproved
AliasesTSLL2, Necl-4, SynCAM4
Ensembl geneENSG00000105767
Ensembl biotypeprotein_coding
OMIM609744
Entrez199731

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000222374, ENST00000593506, ENST00000904152, ENST00000904153, ENST00000904154, ENST00000904155, ENST00000904156, ENST00000904157

RefSeq mRNA: 1 — MANE Select: NM_145296 NM_145296

CCDS: CCDS12627

Canonical transcript exons

ENST00000222374 — 9 exons

ExonStartEnd
ENSE000007108054362411443624242
ENSE000007108094362591143626001
ENSE000007108104362612443626288
ENSE000007108124362678443626918
ENSE000007108134362716643627318
ENSE000008474334362764443627790
ENSE000012122524362236843623439
ENSE000012122554363972743639850
ENSE000035507434362507843625250

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 98.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.4042 / max 271.3708, expressed in 988 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
1813027.6248982
1813030.4966105
1813040.282884

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
cortical plateUBERON:000534398.69gold quality
C1 segment of cervical spinal cordUBERON:000646998.65gold quality
nerveUBERON:000102197.86gold quality
tibial nerveUBERON:000132397.86gold quality
ganglionic eminenceUBERON:000402397.78gold quality
ventricular zoneUBERON:000305397.20gold quality
right frontal lobeUBERON:000281096.90gold quality
spinal cordUBERON:000224096.89gold quality
right hemisphere of cerebellumUBERON:001489096.69gold quality
nucleus accumbensUBERON:000188296.62gold quality
amygdalaUBERON:000187696.47gold quality
cerebellar hemisphereUBERON:000224596.31gold quality
cerebellar cortexUBERON:000212996.16gold quality
sural nerveUBERON:001548895.82gold quality
prefrontal cortexUBERON:000045195.78gold quality
caudate nucleusUBERON:000187395.61gold quality
putamenUBERON:000187495.50gold quality
cingulate cortexUBERON:000302794.36gold quality
anterior cingulate cortexUBERON:000983594.25gold quality
adenohypophysisUBERON:000219694.07gold quality
cerebellumUBERON:000203794.00gold quality
Brodmann (1909) area 9UBERON:001354094.00gold quality
ventral tegmental areaUBERON:000269193.85gold quality
ponsUBERON:000098892.97gold quality
pituitary glandUBERON:000000792.96gold quality
inferior vagus X ganglionUBERON:000536392.71gold quality
dorsolateral prefrontal cortexUBERON:000983492.66gold quality
subthalamic nucleusUBERON:000190692.45gold quality
neocortexUBERON:000195092.34gold quality
telencephalonUBERON:000189392.18gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no2.84

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

74 targeting CADM4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-656-3P100.0072.152788
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-453199.9969.703181
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-485-3P99.9870.681585
HSA-MIR-539-3P99.9870.741616
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-4725-3P99.9669.532520
HSA-MIR-6780B-5P99.9669.602562
HSA-MIR-6845-3P99.9466.881439
HSA-MIR-452599.9464.38675
HSA-MIR-5010-5P99.9464.11705
HSA-MIR-552-5P99.9368.561583
HSA-MIR-7162-3P99.8968.161682
HSA-MIR-444799.8567.812900
HSA-MIR-76599.8468.242442
HSA-MIR-469899.8471.414303
HSA-MIR-6794-5P99.7666.381048
HSA-MIR-11181-3P99.7566.382205
HSA-MIR-674599.7465.331321
HSA-MIR-6752-3P99.7266.711587
HSA-MIR-430699.7270.503630
HSA-MIR-518A-5P99.7069.012209
HSA-MIR-52799.7069.012209

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 10.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 11)

  • TSLL2 is expressed at the cell-cell attachment sites in the renal tubules, the transitional epithelia of the bladder, and the glandular epithelia of the prostate, and is a tumor-suppressor candidate in prostate cancer. (PMID:16261159)
  • Nec- 4 suppress the growth and tumorigenic ability of colon cancer cells. (PMID:19565570)
  • CADM4, as well as 4.1B is expressed specifically in human proximal tubules. (PMID:21544807)
  • Loss or decrease of CADM4 expression seems to play an important role in breast cancer invasiveness, and it is associated with poorer biological parameters. (PMID:23559354)
  • results indicate that Necl-4 serves as a tumor suppressor by inhibiting the ErbB2/ErbB3 signaling and hemidesmosome disassembly (PMID:23611113)
  • Cadm4 regulates the growth of the myelin unit and the organization of the underlying axonal membrane. (PMID:23825401)
  • Necl-4 serves as a novel regulator for contact inhibition of cell movement and proliferation cooperatively with the VEGF receptor and PTPN13 (PMID:25893857)
  • There was a significant association between RNase 5 and histological differentiation in colon adenocarcinomas, but no association between RNase 5 and Necl 4 in gastric or colon adenocarcinomas (PMID:28561015)
  • The results suggest that Necl-4 enhances VEGF-induced activation of PLCgamma-c-Raf-MEK-ERK pathway without affecting the phosphorylation and internalization of VEGFR2. (PMID:28601637)
  • Low CADM4 expression is associated with bone marrow metastasis in neuroblastoma. (PMID:28921546)
  • Cell adhesion molecule 4 suppresses cell growth and metastasis by inhibiting the Akt signaling pathway in non-small cell lung cancer. (PMID:32325280)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriocadm4ENSDARG00000040291
mus_musculusCadm4ENSMUSG00000054793
rattus_norvegicusCadm4ENSRNOG00000024243
drosophila_melanogasterFas3FBGN0000636

Paralogs (14): PVR (ENSG00000073008), CD200 (ENSG00000091972), CRTAM (ENSG00000109943), NECTIN1 (ENSG00000110400), NECTIN2 (ENSG00000130202), NECTIN4 (ENSG00000143217), CD226 (ENSG00000150637), CADM3 (ENSG00000162706), SMAGP (ENSG00000170545), CADM2 (ENSG00000175161), NECTIN3 (ENSG00000177707), TIGIT (ENSG00000181847), CADM1 (ENSG00000182985), NCR3 (ENSG00000204475)

Protein

Protein identifiers

Cell adhesion molecule 4Q8NFZ8 (reviewed: Q8NFZ8)

Alternative names: Immunoglobulin superfamily member 4C, Nectin-like protein 4, TSLC1-like protein 2

All UniProt accessions (1): Q8NFZ8

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the cell-cell adhesion. Has calcium- and magnesium-independent cell-cell adhesion activity. May have tumor-suppressor activity.

Subunit / interactions. Monomer and homodimer.

Subcellular location. Membrane.

Tissue specificity. Expressed in brain, prostate, brain, kidney and some other organs.

Post-translational modifications. N-glycosylated.

Similarity. Belongs to the nectin family.

RefSeq proteins (1): NP_660339* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR003585Neurexin-likeDomain
IPR003598Ig_sub2Domain
IPR003599Ig_subDomain
IPR007110Ig-like_domDomain
IPR013106Ig_V-setDomain
IPR013162CD80_C2-setDomain
IPR013783Ig-like_foldHomologous_superfamily
IPR036179Ig-like_dom_sfHomologous_superfamily

Pfam: PF07686, PF08205, PF13927

UniProt features (16 total): glycosylation site 3, disulfide bond 3, domain 3, topological domain 2, signal peptide 1, chain 1, sequence variant 1, transmembrane region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8NFZ8-F185.310.72

Functional residue map

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

Post-translational modifications (1): 361

Disulfide bonds (3): 44–104, 145–199, 245–291

Glycosylation sites (3): 67, 286, 31

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 188 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, MORF_ITGA2, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_REGULATION_OF_PHOSPHORYLATION, MORF_BRCA1, AAGCCAT_MIR135A_MIR135B, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, MORF_RAD51L3, GOBP_WOUND_HEALING

GO Biological Process (12): regulation of protein phosphorylation (GO:0001932), negative regulation of protein phosphorylation (GO:0001933), homophilic cell-cell adhesion (GO:0007156), negative regulation of peptidyl-threonine phosphorylation (GO:0010801), negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948), regulation of Rac protein signal transduction (GO:0035020), regulation of cell population proliferation (GO:0042127), negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732), regulation of wound healing (GO:0061041), negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747), regulation of cell motility (GO:2000145), cell adhesion (GO:0007155)

GO Molecular Function (5): protein phosphatase binding (GO:0019903), receptor tyrosine kinase binding (GO:0030971), vascular endothelial growth factor receptor 1 binding (GO:0043183), vascular endothelial growth factor receptor 2 binding (GO:0043184), protein binding (GO:0005515)

GO Cellular Component (3): membrane (GO:0016020), cell leading edge (GO:0031252), cell-cell contact zone (GO:0044291)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
protein phosphorylation2
negative regulation of protein phosphorylation2
negative regulation of signal transduction2
regulation of cellular process2
vascular endothelial growth factor receptor binding2
cellular anatomical structure2
regulation of protein modification process1
regulation of phosphorylation1
regulation of protein phosphorylation1
negative regulation of protein modification process1
negative regulation of phosphorylation1
cell-cell adhesion1
regulation of peptidyl-threonine phosphorylation1
peptidyl-threonine phosphorylation1
regulation of vascular endothelial growth factor receptor signaling pathway1
vascular endothelial growth factor receptor signaling pathway1
negative regulation of cellular response to growth factor stimulus1
Rac protein signal transduction1
regulation of small GTPase mediated signal transduction1
cell population proliferation1
peptidyl-tyrosine phosphorylation1
regulation of peptidyl-tyrosine phosphorylation1
wound healing1
regulation of response to wounding1
vascular endothelial growth factor signaling pathway1
regulation of vascular endothelial growth factor signaling pathway1
negative regulation of cellular response to vascular endothelial growth factor stimulus1
regulation of locomotion1
cell motility1
cellular process1
phosphatase binding1
signaling receptor binding1
protein tyrosine kinase binding1
binding1
cell-cell junction1

Protein interactions and networks

STRING

1040 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CADM4PALS2Q9NZW5888
CADM4CADM3Q8N126849
CADM4EPB41L2O43491727
CADM4EPB41P11171628
CADM4CNTNAP1P78357593
CADM4PTPN13Q12923578
CADM4MPP3Q13368521
CADM4NRG1P98202519
CADM4DLG3Q92796499
CADM4SLC44A1Q8WWI5474
CADM4CADM2Q8N3J6462
CADM4NFASCO94856454
CADM4GLDNQ6ZMI3400
CADM4CCN5O76076399
CADM4AFDNP55196397

IntAct

56 interactions, top by confidence:

ABTypeScore
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
EPHB6FKBP5psi-mi:“MI:0914”(association)0.570
CD69PALM3psi-mi:“MI:0914”(association)0.530
CLEC4ASEMA7Apsi-mi:“MI:0914”(association)0.530
FBXO2TMEM131Lpsi-mi:“MI:0914”(association)0.530
TNFSF8LGALS8psi-mi:“MI:0914”(association)0.530
NCEH1CLGNpsi-mi:“MI:0914”(association)0.530
TSPAN16CADM4psi-mi:“MI:0915”(physical association)0.500
CADM2CADM4psi-mi:“MI:0915”(physical association)0.400
CADM3CADM4psi-mi:“MI:0915”(physical association)0.400
SDK2CADM4psi-mi:“MI:0915”(physical association)0.400
CSNK1ECADM4psi-mi:“MI:0915”(physical association)0.370
CADM4DYNC1I1psi-mi:“MI:0915”(physical association)0.370
CYP2S1MPP2psi-mi:“MI:0914”(association)0.350
HEPACAM2TNFRSF10Bpsi-mi:“MI:0914”(association)0.350
CD81STX3psi-mi:“MI:0914”(association)0.350
CD81PVRpsi-mi:“MI:0914”(association)0.350
CD81CD276psi-mi:“MI:0914”(association)0.350
MAPTSHTN1psi-mi:“MI:0914”(association)0.350
CERS2VPS37Cpsi-mi:“MI:0914”(association)0.350
CLEC4ARBFOX3psi-mi:“MI:0914”(association)0.350
HBG2RAP1BLpsi-mi:“MI:0914”(association)0.350
SCPEP1CCDC85Cpsi-mi:“MI:0914”(association)0.350

BioGRID (57): CADM4 (Affinity Capture-RNA), CADM4 (Affinity Capture-MS), CADM4 (Affinity Capture-MS), CADM4 (Affinity Capture-MS), CADM4 (Affinity Capture-MS), CADM4 (Affinity Capture-MS), CADM4 (Proximity Label-MS), CADM4 (Proximity Label-MS), CADM4 (Negative Genetic), CADM4 (Positive Genetic), CADM4 (Affinity Capture-MS), CADM4 (Affinity Capture-MS), CADM4 (Affinity Capture-MS), DIP2A (Affinity Capture-MS), CADM4 (Affinity Capture-MS)

ESM2 similar proteins: A0A5B9, A6NDV4, A6QLK4, B1AWJ5, E9PTA2, O75051, O94759, P01850, P01851, P01852, P01857, P01859, P01860, P01861, P01869, P01870, P01906, P01909, P03987, P06333, P0DSE2, P0DTU4, P11364, P15151, P15981, P20759, P20762, P32506, P54900, Q1WIM1, Q1WIM3, Q3TMX7, Q6P767, Q6ZRP7, Q7TQ33, Q812F8, Q8N126, Q8NFZ8, Q8R143, Q8R464

Diamond homologs: A0A0R4IGV4, P57087, P98160, Q05793, Q1WIM1, Q2WGK2, Q8NFZ8, Q8R464, Q925F2, Q9JI59, Q9XT56, Q9Y624, A0A087WV53, A1KZ92, A2AJ76, A4IFW2, A4IGL7, A6NDA9, B0BNK7, B0V2N1, D2HFT7, D3YXG0, D4A1J9, D4ABX8, F1NWE3, G5EG78, O15146, O73775, O75325, O94898, P07722, P15364, P20916, P20917, P23468, P43146, P48960, P53813, P70193, P70211

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance43
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1544 predictions. Top by Δscore:

VariantEffectΔscore
19:43623350:T:Adonor_gain1.0000
19:43625072:TCTCA:Tdonor_loss1.0000
19:43625074:TCA:Tdonor_loss1.0000
19:43625075:CA:Cdonor_loss1.0000
19:43625076:A:ACdonor_gain1.0000
19:43625077:C:CCdonor_gain1.0000
19:43625246:TTGGC:Tacceptor_gain1.0000
19:43625247:TGGC:Tacceptor_gain1.0000
19:43625248:GGC:Gacceptor_gain1.0000
19:43625249:GC:Gacceptor_gain1.0000
19:43625250:CC:Cacceptor_gain1.0000
19:43625251:C:CCacceptor_gain1.0000
19:43625251:C:Tacceptor_gain1.0000
19:43625255:G:Cacceptor_gain1.0000
19:43625255:G:GCacceptor_gain1.0000
19:43625261:A:ACacceptor_gain1.0000
19:43625261:A:Cacceptor_gain1.0000
19:43626122:A:ACdonor_gain1.0000
19:43626123:C:CCdonor_gain1.0000
19:43626123:CA:Cdonor_gain1.0000
19:43626123:CACTG:Cdonor_gain1.0000
19:43626142:A:ACdonor_gain1.0000
19:43626143:C:CCdonor_gain1.0000
19:43626779:GGTAC:Gdonor_loss1.0000
19:43626914:GGCCA:Gacceptor_gain1.0000
19:43626915:GCCA:Gacceptor_gain1.0000
19:43626916:CCA:Cacceptor_gain1.0000
19:43626916:CCAC:Cacceptor_gain1.0000
19:43626917:CA:Cacceptor_gain1.0000
19:43626917:CAC:Cacceptor_gain1.0000

AlphaMissense

2493 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:43625232:C:AW258C1.000
19:43625232:C:GW258C1.000
19:43625233:C:GW258S1.000
19:43625234:A:GW258R1.000
19:43625234:A:TW258R1.000
19:43626809:C:AW158C1.000
19:43626809:C:GW158C1.000
19:43627219:C:GC104S1.000
19:43627220:A:GC104R1.000
19:43627220:A:TC104S1.000
19:43627237:T:AD98V1.000
19:43627237:T:GD98A1.000
19:43625121:A:CN295K0.999
19:43625121:A:TN295K0.999
19:43625134:C:GC291S0.999
19:43625135:A:GC291R0.999
19:43625135:A:TC291S0.999
19:43625141:A:CY289D0.999
19:43625179:A:GL276P0.999
19:43625920:C:TG249E0.999
19:43625921:C:AG249W0.999
19:43625921:C:GG249R0.999
19:43625921:C:TG249R0.999
19:43625933:A:GC245R0.999
19:43625995:G:TP224H0.999
19:43626191:A:CC199W0.999
19:43626192:C:GC199S0.999
19:43626192:C:TC199Y0.999
19:43626193:A:GC199R0.999
19:43626193:A:TC199S0.999

dbSNP variants (sampled 300 via entrez): RS1000039450 (19:43625744 C>G), RS1000175877 (19:43639337 G>C), RS1000551131 (19:43632576 G>A,C), RS1000587602 (19:43624494 G>T), RS1000675266 (19:43638984 G>T), RS1000736845 (19:43631573 A>G), RS1000988281 (19:43638150 C>G), RS1000998533 (19:43623822 C>T), RS1001152694 (19:43631198 A>G), RS1001648252 (19:43632411 G>A,C), RS1001681705 (19:43627759 C>T), RS1001687965 (19:43639616 GC>G), RS1001732679 (19:43634699 G>A,T), RS1001771885 (19:43634349 C>T), RS1002066635 (19:43641844 G>A)

Disease associations

OMIM: gene MIM:609744 | disease phenotypes: MIM:602473

GenCC curated gene-disease

Mondo (1): ethylmalonic encephalopathy (MONDO:0011229)

Orphanet (1): Ethylmalonic encephalopathy (Orphanet:51188)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

DescriptorNameTree numbers
C535737Ethylmalonic encephalopathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases expression, decreases methylation, increases expression, affects cotreatment6
trichostatin Aaffects cotreatment, decreases expression, affects expression4
entinostatdecreases expression, affects cotreatment2
Panobinostataffects cotreatment, decreases expression2
FR900359affects phosphorylation1
triphenyl phosphateaffects expression1
sodium arseniteincreases expression, affects cotreatment, increases abundance1
manganese chlorideaffects cotreatment, increases abundance, increases expression1
potassium chromate(VI)increases expression1
pentanalincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
abrinedecreases expression1
Grape Seed Proanthocyanidinsaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, decreases expression1
Temozolomideincreases expression1
Sunitinibdecreases expression1
Arsenicincreases abundance, increases expression, affects cotreatment1
Benzo(a)pyreneaffects methylation1
Catechindecreases expression, affects cotreatment1
Estradiolaffects cotreatment, decreases expression1
Ivermectindecreases expression1
Manganeseaffects cotreatment, increases abundance, increases expression1
Tobacco Smoke Pollutiondecreases expression1
tert-Butylhydroperoxidedecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00728481PHASE2/PHASE3COMPLETEDThe Role Of Gastroesophageal Reflux Disease (GERD) in Eosinophilic Esophagitis
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ethylmalonic encephalopathy