IGDCC3

gene
On this page

Also known as HsT18880

Summary

IGDCC3 (immunoglobulin superfamily DCC subclass member 3, HGNC:9700) is a protein-coding gene on chromosome 15q22.31, encoding Immunoglobulin superfamily DCC subclass member 3 (Q8IVU1).

Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within neuromuscular process controlling balance. Predicted to be located in membrane.

Source: NCBI Gene 9543 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 138 total
  • MANE Select transcript: NM_004884

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:9700
Approved symbolIGDCC3
Nameimmunoglobulin superfamily DCC subclass member 3
Location15q22.31
Locus typegene with protein product
StatusApproved
AliasesHsT18880
Ensembl geneENSG00000174498
Ensembl biotypeprotein_coding
OMIM604184
Entrez9543

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 17 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000327987, ENST00000558354, ENST00000559058, ENST00000559231, ENST00000559947, ENST00000863890, ENST00000863891, ENST00000920200, ENST00000920201, ENST00000920202, ENST00000920203, ENST00000920204, ENST00000920205, ENST00000920206, ENST00000920207, ENST00000920208, ENST00000920209, ENST00000920210, ENST00000920211

RefSeq mRNA: 1 — MANE Select: NM_004884 NM_004884

CCDS: CCDS10205

Canonical transcript exons

ENST00000327987 — 14 exons

ExonStartEnd
ENSE000011073576533055065330741
ENSE000011073636533029365330397
ENSE000011073736532939065329597
ENSE000012008236532972665329864
ENSE000012859426533105065331214
ENSE000013052496533472865334865
ENSE000013154056533529165335421
ENSE000013212126532712765329148
ENSE000016975896537509765375402
ENSE000027137316537768665378002
ENSE000035042666533325765333415
ENSE000035539076533141265331659
ENSE000035694526533581265335956
ENSE000035874336533194165332106

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 95.88.

FANTOM5 (CAGE): breadth broad, TPM avg 5.2097 / max 183.2942, expressed in 378 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
1505443.9107344
1505451.1716234
1505460.122975
1505430.00463

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
oocyteCL:000002395.88gold quality
secondary oocyteCL:000065595.81gold quality
upper arm skinUBERON:000426390.76gold quality
kidney epitheliumUBERON:000481990.60gold quality
buccal mucosa cellCL:000233689.85gold quality
cardiac muscle of right atriumUBERON:000337989.45gold quality
left ventricle myocardiumUBERON:000656687.72gold quality
ganglionic eminenceUBERON:000402384.98gold quality
tibialis anteriorUBERON:000138583.35silver quality
ventral tegmental areaUBERON:000269183.13gold quality
lateral nuclear group of thalamusUBERON:000273682.87gold quality
subthalamic nucleusUBERON:000190681.78gold quality
spermCL:000001981.30silver quality
placentaUBERON:000198780.62gold quality
epithelial cell of pancreasCL:000008380.47gold quality
myocardiumUBERON:000234980.44gold quality
dorsal plus ventral thalamusUBERON:000189780.37gold quality
cortical plateUBERON:000534380.17gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099179.61gold quality
lateral globus pallidusUBERON:000247679.51silver quality
inferior vagus X ganglionUBERON:000536379.40gold quality
substantia nigra pars compactaUBERON:000196579.19silver quality
deltoidUBERON:000147679.03silver quality
quadriceps femorisUBERON:000137778.65gold quality
nasal cavity epitheliumUBERON:000538478.33gold quality
substantia nigra pars reticulataUBERON:000196678.31silver quality
cerebellar vermisUBERON:000472077.76gold quality
vastus lateralisUBERON:000137977.69gold quality
medulla oblongataUBERON:000189677.66gold quality
vena cavaUBERON:000408777.50gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-MTAB-10018yes320.66
E-ANND-3yes2.59
E-GEOD-111727no452.38

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

133 targeting IGDCC3, 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-4262100.0073.263931
HSA-MIR-188-3P100.0068.761240
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-450A-1-3P100.0069.331837
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-450099.9972.722367
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-186-5P99.9970.833707
HSA-MIR-548C-3P99.9974.017587
HSA-LET-7A-5P99.9872.291790
HSA-LET-7B-5P99.9872.311790
HSA-LET-7C-5P99.9872.291790
HSA-LET-7E-5P99.9872.291790
HSA-LET-7F-5P99.9872.561784
HSA-LET-7G-5P99.9872.371784
HSA-LET-7I-5P99.9872.371788
HSA-MIR-98-5P99.9872.331787
HSA-MIR-56899.9869.862084
HSA-MIR-1213699.9872.815713
HSA-LET-7D-5P99.9671.761632
HSA-MIR-445899.9671.641650
HSA-MIR-4725-3P99.9669.532520
HSA-MIR-6780B-5P99.9669.602562
HSA-MIR-570-3P99.9672.414910
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioigdcc3ENSDARG00000075158
mus_musculusIgdcc3ENSMUSG00000032394
rattus_norvegicusIgdcc3ENSRNOG00000030800

Paralogs (36): CNTN1 (ENSG00000018236), CDON (ENSG00000064309), NEO1 (ENSG00000067141), SDK2 (ENSG00000069188), IGSF9B (ENSG00000080854), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), MXRA5 (ENSG00000101825), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), BOC (ENSG00000144857), SDK1 (ENSG00000146555), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), PRTG (ENSG00000166450), ROBO1 (ENSG00000169855), DSCAM (ENSG00000171587), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323), L1CAM (ENSG00000198910)

Protein

Protein identifiers

Immunoglobulin superfamily DCC subclass member 3Q8IVU1 (reviewed: Q8IVU1)

Alternative names: Putative neuronal cell adhesion molecule

All UniProt accessions (3): Q8IVU1, H0YKK1, H0YNQ1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the immunoglobulin superfamily. DCC family.

RefSeq proteins (1): NP_004875* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR003598Ig_sub2Domain
IPR003599Ig_subDomain
IPR003961FN3_domDomain
IPR007110Ig-like_domDomain
IPR013098Ig_I-setDomain
IPR013783Ig-like_foldHomologous_superfamily
IPR036116FN3_sfHomologous_superfamily
IPR036179Ig-like_dom_sfHomologous_superfamily

Pfam: PF00041, PF07679, PF13927

UniProt features (28 total): glycosylation site 7, domain 6, disulfide bond 4, sequence conflict 4, region of interest 2, signal peptide 1, chain 1, compositionally biased region 1, transmembrane region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8IVU1-F175.030.49

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): 63–117, 160–209, 259–307, 351–400

Glycosylation sites (7): 93, 246, 381, 382, 580, 604, 634

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 108 (showing top): CREL_01, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GOBP_NEUROMUSCULAR_PROCESS_CONTROLLING_BALANCE, GOBP_CELL_CELL_ADHESION, TCF4_Q5, GROSS_HYPOXIA_VIA_ELK3_UP, LEF1_Q6, IK3_01, GOBP_NEUROMUSCULAR_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, CERVERA_SDHB_TARGETS_2, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, WANG_CISPLATIN_RESPONSE_AND_XPC_UP, VANDESLUIS_COMMD1_TARGETS_GROUP_3_DN, WANG_TNF_TARGETS

GO Biological Process (2): neuromuscular process controlling balance (GO:0050885), cell-cell adhesion (GO:0098609)

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

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
musculoskeletal movement1
neuromuscular process1
cell adhesion1
binding1
cellular anatomical structure1

Protein interactions and networks

STRING

828 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
IGDCC3UNC119Q13432738
IGDCC3SIDT1Q9NXL6694
IGDCC3VIMP08670650
IGDCC3EBAG9O00559593
IGDCC3MMP10P09238578
IGDCC3KIF1AQ12756574
IGDCC3CADPSQ9ULU8570
IGDCC3UNC13BO14795567
IGDCC3PTPN3P26045522
IGDCC3FEZ1Q99689507
IGDCC3PTGESO14684505
IGDCC3AACSQ86V21474
IGDCC3PHGDHO43175474
IGDCC3ERI1Q8IV48470
IGDCC3FN1P02751430

IntAct

9 interactions, top by confidence:

ABTypeScore
IGDCC3WFIKKN2psi-mi:“MI:0915”(physical association)0.540
IGDCC3WFIKKN2psi-mi:“MI:0407”(direct interaction)0.540
ICAM5IGDCC3psi-mi:“MI:0407”(direct interaction)0.440
IGDCC3LTFpsi-mi:“MI:0407”(direct interaction)0.440
IGFBPL1IGDCC3psi-mi:“MI:0407”(direct interaction)0.440
IGDCC3IGFBP7psi-mi:“MI:0407”(direct interaction)0.440
IGDCC3ILDR1psi-mi:“MI:0915”(physical association)0.400
CLEC4ARBFOX3psi-mi:“MI:0914”(association)0.350

BioGRID (2): IGDCC3 (Affinity Capture-MS), IGDCC3 (Affinity Capture-MS)

ESM2 similar proteins: A0JNA2, A4FUY1, C0HL12, O14514, O19131, O60241, O75325, P0C5H6, P15151, P32506, P32507, P70225, P98095, Q05BQ1, Q13477, Q14626, Q14CZ8, Q29RN8, Q3UHD1, Q4V9Z5, Q53EL9, Q5DRQ8, Q5R7Y0, Q5RF19, Q5STE3, Q63148, Q64385, Q6AX42, Q6BAA4, Q6MZW2, Q6UWL2, Q6UWL6, Q6UXD5, Q6WN34, Q7TSK2, Q7TSU7, Q8BHA1, Q8BQC3, Q8CGM1, Q8IVU1

Diamond homologs: A0A1Y9G8H0, A0A452E9Y6, A1KZ92, A2A8L5, A2AJ76, A4IFW2, A4IGL7, A4IIW9, A5JUY8, A7MBJ4, A8WGA3, A8WQH2, B0BNK7, B3A0P3, D2HFT7, D3YXG0, D4A1J9, D4ABX8, G5EBF1, G5EG78, H2A0M7, O15146, O35158, O55005, O89026, P05164, P07202, P09933, P0C6S8, P0C7J6, P11247, P11678, P14650, P16621, P22079, P23468, P35419, P49290, P70193, P80025

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance123
Likely benign4
Benign4

Top pathogenic / likely-pathogenic (0)

SpliceAI

2951 predictions. Top by Δscore:

VariantEffectΔscore
15:65329385:CTCA:Cdonor_gain1.0000
15:65329386:TCA:Tdonor_loss1.0000
15:65329387:CA:Cdonor_loss1.0000
15:65329388:A:ACdonor_gain1.0000
15:65329388:ACT:Adonor_loss1.0000
15:65329389:C:CGdonor_gain1.0000
15:65329389:CT:Cdonor_gain1.0000
15:65329389:CTG:Cdonor_gain1.0000
15:65329389:CTGT:Cdonor_gain1.0000
15:65329389:CTGTG:Cdonor_gain1.0000
15:65329610:C:CTacceptor_gain1.0000
15:65329610:C:Tacceptor_gain1.0000
15:65329611:A:Tacceptor_gain1.0000
15:65329616:T:Cacceptor_gain1.0000
15:65329616:T:TCacceptor_gain1.0000
15:65329724:ACCTG:Adonor_gain1.0000
15:65329725:CCTGC:Cdonor_gain1.0000
15:65329728:G:Adonor_gain1.0000
15:65329860:CAAGG:Cacceptor_gain1.0000
15:65329861:AAGG:Aacceptor_gain1.0000
15:65329862:AGG:Aacceptor_gain1.0000
15:65329863:GG:Gacceptor_gain1.0000
15:65329864:GC:Gacceptor_loss1.0000
15:65329865:C:CCacceptor_gain1.0000
15:65329865:CTGG:Cacceptor_loss1.0000
15:65330287:CCTCA:Cdonor_loss1.0000
15:65330288:CTCAC:Cdonor_loss1.0000
15:65330289:TCA:Tdonor_loss1.0000
15:65330290:CA:Cdonor_loss1.0000
15:65330291:ACCTG:Adonor_loss1.0000

AlphaMissense

5197 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
15:65332000:C:AW363C1.000
15:65332000:C:GW363C1.000
15:65332043:A:GF349S1.000
15:65333364:A:GL292P1.000
15:65334738:C:AW271C1.000
15:65334738:C:GW271C1.000
15:65334740:A:GW271R1.000
15:65334740:A:TW271R1.000
15:65335850:C:AW172C1.000
15:65335850:C:GW172C1.000
15:65335852:A:GW172R1.000
15:65335852:A:TW172R1.000
15:65330370:A:GL594P0.999
15:65331476:C:AW444C0.999
15:65331476:C:GW444C0.999
15:65331478:A:GW444R0.999
15:65331478:A:TW444R0.999
15:65331564:A:GL415P0.999
15:65331596:G:CN404K0.999
15:65331596:G:TN404K0.999
15:65331616:A:CY398D0.999
15:65331654:A:GL385P0.999
15:65332002:A:GW363R0.999
15:65332002:A:TW363R0.999
15:65332043:A:CF349C0.999
15:65333268:A:GL324P0.999
15:65333318:A:CC307W0.999
15:65333319:C:TC307Y0.999
15:65333320:A:GC307R0.999
15:65333325:T:CY305C0.999

dbSNP variants (sampled 300 via entrez): RS1000014601 (15:65350185 G>A), RS1000039593 (15:65340481 C>G,T), RS1000063700 (15:65364298 G>A), RS1000095218 (15:65334548 C>T), RS1000204136 (15:65377909 G>A,C,T), RS1000216703 (15:65361845 A>G), RS1000237436 (15:65346417 T>C), RS1000264556 (15:65328755 G>A,C,T), RS1000351334 (15:65373373 G>A), RS1000417735 (15:65346127 T>C), RS1000435843 (15:65367759 G>T), RS1000459287 (15:65358911 C>T), RS1000507356 (15:65337933 G>T), RS1000550944 (15:65377058 C>A), RS1000568992 (15:65361608 C>G,T)

Disease associations

OMIM: gene MIM:604184 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases expression, affects expression, decreases expression5
trichostatin Aaffects cotreatment, increases expression3
Benzo(a)pyreneaffects methylation, decreases expression3
sodium arseniteaffects binding, increases reaction, decreases expression2
Panobinostatincreases expression, affects cotreatment2
Estradioldecreases expression2
Tretinoinincreases expression2
p-Chloromercuribenzoic Acidaffects cotreatment, decreases expression2
methylmercuric chloridedecreases expression1
bisphenol Aaffects expression1
beta-lapachonedecreases expression1
methylparabenincreases expression1
butyraldehydeincreases expression1
aflatoxin B2increases methylation1
butylparabenincreases expression1
pentanalincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression, decreases expression1
dorsomorphinaffects cotreatment, increases expression, decreases expression1
theaflavin-3,3’-digallateaffects expression1
Resveratrolaffects cotreatment, decreases expression1
Sunitinibincreases expression1
Arbutindecreases expression1
Atrazineincreases expression1
Azathioprinedecreases expression1
Leadaffects expression1
Plant Extractsaffects cotreatment, decreases expression1
Quercetindecreases expression1
Rotenonedecreases expression1
Dronabinolincreases expression1
Thimerosaldecreases expression1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.