ELFN1
gene geneOn this page
Summary
ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1, HGNC:33154) is a protein-coding gene on chromosome 7p22.3, encoding Protein ELFN1 (P0C7U0). Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment.
Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in synapse organization. Predicted to act upstream of or within several processes, including chemical synaptic transmission; synapse assembly; and visual perception. Predicted to be located in dendrite and excitatory synapse. Predicted to be active in several cellular components, including axon terminus; glutamatergic synapse; and postsynaptic density membrane.
Source: NCBI Gene 392617 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 214 total — 5 pathogenic
- Phenotypes (HPO): 120
- MANE Select transcript:
NM_001128636
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:33154 |
| Approved symbol | ELFN1 |
| Name | extracellular leucine rich repeat and fibronectin type III domain containing 1 |
| Location | 7p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000225968 |
| Ensembl biotype | protein_coding |
| OMIM | 614964 |
| Entrez | 392617 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 20 protein_coding, 1 retained_intron
ENST00000424383, ENST00000561626, ENST00000688716, ENST00000691883, ENST00000853552, ENST00000853553, ENST00000853554, ENST00000853555, ENST00000853556, ENST00000853557, ENST00000853558, ENST00000853559, ENST00000853560, ENST00000853561, ENST00000853562, ENST00000853563, ENST00000853564, ENST00000853565, ENST00000853566, ENST00000936129, ENST00000936130
RefSeq mRNA: 3 — MANE Select: NM_001128636
NM_001128636, NM_001394187, NM_001394188
CCDS: CCDS59046
Canonical transcript exons
ENST00000424383 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001629647 | 1709091 | 1709252 |
| ENSE00003934387 | 1744304 | 1747946 |
| ENSE00003935877 | 1688058 | 1688150 |
| ENSE00003938134 | 1670277 | 1670354 |
Expression profiles
Bgee: expression breadth ubiquitous, 190 present calls, max score 91.84.
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 91.84 | gold quality |
| kidney epithelium | UBERON:0004819 | 84.82 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 84.30 | gold quality |
| heart right ventricle | UBERON:0002080 | 82.79 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 80.17 | silver quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 80.11 | silver quality |
| pigmented layer of retina | UBERON:0001782 | 79.23 | gold quality |
| parietal pleura | UBERON:0002400 | 78.80 | gold quality |
| right lobe of liver | UBERON:0001114 | 78.59 | gold quality |
| liver | UBERON:0002107 | 78.37 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 77.72 | silver quality |
| visceral pleura | UBERON:0002401 | 76.63 | silver quality |
| apex of heart | UBERON:0002098 | 75.98 | gold quality |
| endothelial cell | CL:0000115 | 75.82 | silver quality |
| upper arm skin | UBERON:0004263 | 75.46 | gold quality |
| sperm | CL:0000019 | 74.55 | gold quality |
| thymus | UBERON:0002370 | 74.12 | silver quality |
| stromal cell of endometrium | CL:0002255 | 74.09 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 74.05 | silver quality |
| substantia nigra pars compacta | UBERON:0001965 | 73.98 | silver quality |
| tibia | UBERON:0000979 | 73.89 | gold quality |
| entorhinal cortex | UBERON:0002728 | 73.50 | silver quality |
| substantia nigra pars reticulata | UBERON:0001966 | 73.47 | gold quality |
| ventral tegmental area | UBERON:0002691 | 73.47 | gold quality |
| secondary oocyte | CL:0000655 | 73.41 | silver quality |
| cardiac ventricle | UBERON:0002082 | 72.93 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 72.70 | gold quality |
| heart left ventricle | UBERON:0002084 | 72.64 | gold quality |
| primary visual cortex | UBERON:0002436 | 72.59 | gold quality |
| occipital lobe | UBERON:0002021 | 72.56 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.94 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
62 targeting ELFN1, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
Literature-anchored findings (GeneRIF, showing 4)
- Damaging missense mutations of ELFN1, that are clustered in the carboxy-terminal region required for mGluR7 recruitment, are found in patients with epilepsy and attention deficit hyperactivity disorder. (PMID:25047565)
- the binding specificity of ELFN1 and found it to be recruited selectively to all group III mGluRs (mGluR4, mGluR6, mGluR7, and mGluR8), but not other mGluR species. (PMID:29686062)
- Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity. (PMID:34509675)
- ELFN1 is a new extracellular matrix (ECM)-associated protein. (PMID:38986898)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | elfn1b | ENSDARG00000074372 |
| mus_musculus | Elfn1 | ENSMUSG00000048988 |
| rattus_norvegicus | Elfn1 | ENSRNOG00000022767 |
| drosophila_melanogaster | Con | FBGN0005775 |
| drosophila_melanogaster | kek3 | FBGN0028370 |
| caenorhabditis_elegans | lron-9 | WBGENE00011971 |
| caenorhabditis_elegans | WBGENE00020649 |
Paralogs (22): CHADL (ENSG00000100399), LGI1 (ENSG00000108231), LGR6 (ENSG00000133067), CHAD (ENSG00000136457), LRIG3 (ENSG00000139263), LGR5 (ENSG00000139292), LRIG1 (ENSG00000144749), LRRTM2 (ENSG00000146006), LRIT1 (ENSG00000148602), LGI2 (ENSG00000153012), LGI4 (ENSG00000153902), LRRC52 (ENSG00000162763), ELFN2 (ENSG00000166897), LGI3 (ENSG00000168481), LRG1 (ENSG00000171236), CPN2 (ENSG00000178772), LRIT3 (ENSG00000183423), LRRC26 (ENSG00000184709), LRIG2 (ENSG00000198799), LGR4 (ENSG00000205213), LRRC24 (ENSG00000254402), TRIL (ENSG00000255690)
Protein
Protein identifiers
Protein ELFN1 — P0C7U0 (reviewed: P0C7U0)
Alternative names: Extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1, Protein phosphatase 1 regulatory subunit 28
All UniProt accessions (1): P0C7U0
UniProt curated annotations — full annotation on UniProt →
Function. Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment. Specifically present in excitatory synapses onto oriens-lacunosum molecular (OLM) interneurons and acts as a regulator of presynaptic release probability to direct the formation of highly facilitating pyramidal-OLM synapses. Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.
Subunit / interactions. Interacts with PPP1CA.
Subcellular location. Membrane. Cell projection. Dendrite. Axon.
Disease relevance. Dursun-Ozgul neurodevelopmental syndrome (DONDS) [MIM:621344] An autosomal recessive neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral abnormalities, epilepsy, and movement disorders. The disease is caused by variants affecting the gene represented in this entry.
RefSeq proteins (3): NP_001122108, NP_001381116, NP_001381117 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000483 | Cys-rich_flank_reg_C | Domain |
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR050541 | LRR_TM_domain-containing | Family |
| IPR055106 | ELFN_Fn3 | Domain |
Pfam: PF13855, PF22986
UniProt features (32 total): repeat 6, glycosylation site 6, compositionally biased region 5, region of interest 4, domain 2, topological domain 2, modified residue 2, sequence variant 2, signal peptide 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P0C7U0-F1 | 62.62 | 0.25 |
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 (2): 461, 645
Glycosylation sites (6): 59, 85, 90, 122, 210, 376
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 85 (showing top):
GOBP_SYNAPSE_ASSEMBLY, PEREZ_TP63_TARGETS, chr7p22, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_SYNAPTIC_SIGNALING, GOBP_SENSORY_PERCEPTION, GOBP_CELL_JUNCTION_ASSEMBLY, GOCC_NEURON_PROJECTION, GOCC_EXCITATORY_SYNAPSE, GOCC_NEURON_PROJECTION_TERMINUS, GOCC_POSTSYNAPSE, GOCC_SYNAPSE
GO Biological Process (7): chemical synaptic transmission (GO:0007268), synapse assembly (GO:0007416), visual perception (GO:0007601), establishment of protein localization (GO:0045184), synapse organization (GO:0050808), synaptic membrane adhesion (GO:0099560), synaptic signaling (GO:0099536)
GO Molecular Function (3): protein phosphatase inhibitor activity (GO:0004864), signaling receptor activity (GO:0038023), protein binding (GO:0005515)
GO Cellular Component (10): plasma membrane (GO:0005886), dendrite (GO:0030425), axon terminus (GO:0043679), excitatory synapse (GO:0060076), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), membrane (GO:0016020), cell projection (GO:0042995), neuron projection terminus (GO:0044306), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| synapse | 3 |
| cellular anatomical structure | 3 |
| synapse organization | 2 |
| neuron projection | 2 |
| anterograde trans-synaptic signaling | 1 |
| nervous system development | 1 |
| cell junction assembly | 1 |
| sensory perception of light stimulus | 1 |
| establishment of localization | 1 |
| cell junction organization | 1 |
| cell-cell adhesion | 1 |
| cell-cell signaling | 1 |
| phosphoprotein phosphatase activity | 1 |
| phosphatase inhibitor activity | 1 |
| protein phosphatase regulator activity | 1 |
| molecular transducer activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| dendritic tree | 1 |
| neuron projection terminus | 1 |
| presynapse | 1 |
| distal axon | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1348 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ELFN1 | CACNA1F | O60840 | 663 |
| ELFN1 | GRM6 | O15303 | 653 |
| ELFN1 | GRM7 | Q14831 | 617 |
| ELFN1 | TRPM1 | Q7Z4N2 | 559 |
| ELFN1 | IGSF9B | Q9UPX0 | 528 |
| ELFN1 | EGFLAM | Q63HQ2 | 515 |
| ELFN1 | GRM8 | O00222 | 456 |
| ELFN1 | KCNC3 | Q14003 | 434 |
| ELFN1 | DLX1 | P56177 | 421 |
| ELFN1 | DPYS | Q14117 | 418 |
| ELFN1 | GRIN2B | Q13224 | 418 |
| ELFN1 | GAD1 | Q99259 | 409 |
| ELFN1 | KCNC1 | P48547 | 408 |
| ELFN1 | FNDC1 | Q4ZHG4 | 399 |
| ELFN1 | DLX5 | P56178 | 396 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ELFN1 | PPP1CA | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MYC | psi-mi:“MI:0914”(association) | 0.350 | |
| ELFN2 | TBC1D4 | psi-mi:“MI:0914”(association) | 0.350 |
| CLGN | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| DLK1 | PLPP3 | psi-mi:“MI:0914”(association) | 0.350 |
| SCN2B | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| SIGLECL1 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (17): ELFN1 (Affinity Capture-MS), ELFN1 (Affinity Capture-MS), ELFN1 (Affinity Capture-RNA), ELFN1 (Affinity Capture-MS), ELFN1 (Proximity Label-MS), ELFN1 (Cross-Linking-MS (XL-MS)), ELFN1 (Co-fractionation), ETFA (Co-fractionation), ETFB (Co-fractionation), OXSM (Co-fractionation), TPM4 (Co-fractionation), ELFN1 (Affinity Capture-MS), ELFN1 (Co-fractionation), ELFN1 (Co-fractionation), ELFN1 (Affinity Capture-RNA)
ESM2 similar proteins: A1XQX3, A1XQY0, A1XQY3, A2ALI5, A6QLD2, B5X216, D0PRN4, E9PUN2, O35181, O75151, O94933, O94991, P0C7U0, P15379, P23470, P49415, P56975, P58401, P80560, Q05909, Q3SXY7, Q3UH99, Q3V1G4, Q4W8E7, Q58EG3, Q5EGE1, Q5R3F8, Q5R5B8, Q63376, Q63475, Q68BL8, Q68FM6, Q6QD51, Q6ZSJ9, Q76KF0, Q80Z10, Q810B7, Q810B9, Q8AXP2, Q8C8T7
Diamond homologs: P0C7U0, Q5R3F8, Q68FM6, Q8C8T7, Q8BGX3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
214 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 0 |
| Uncertain significance | 167 |
| Likely benign | 18 |
| Benign | 13 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4083482 | NM_001128636.4(ELFN1):c.149C>A (p.Pro50His) | Pathogenic |
| 4083483 | ELFN1, 92-KB DEL | Pathogenic |
| 4083484 | NM_001128636.4(ELFN1):c.1767del (p.Val591fs) | Pathogenic |
| 4083485 | NM_001128636.4(ELFN1):c.475_477del (p.Val159del) | Pathogenic |
| 4083486 | NM_001128636.4(ELFN1):c.128_137del (p.Ile43fs) | Pathogenic |
SpliceAI
726 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:1709253:G:GG | donor_gain | 1.0000 |
| 7:1709229:T:TA | donor_gain | 0.9900 |
| 7:1692950:C:T | donor_gain | 0.9800 |
| 7:1744302:AGCAG:A | acceptor_gain | 0.9800 |
| 7:1744303:GCA:G | acceptor_gain | 0.9800 |
| 7:1744303:GCAGG:G | acceptor_gain | 0.9800 |
| 7:1744302:A:AG | acceptor_gain | 0.9700 |
| 7:1744303:G:GA | acceptor_gain | 0.9700 |
| 7:1744303:GC:G | acceptor_gain | 0.9700 |
| 7:1709230:C:CA | donor_gain | 0.9500 |
| 7:1744300:GCA:G | acceptor_loss | 0.9500 |
| 7:1744303:G:C | acceptor_loss | 0.9500 |
| 7:1709259:C:T | donor_gain | 0.9400 |
| 7:1709190:G:GT | donor_gain | 0.9200 |
| 7:1744139:G:GT | donor_gain | 0.9200 |
| 7:1692928:G:T | donor_gain | 0.9100 |
| 7:1709191:G:T | donor_gain | 0.9100 |
| 7:1688146:TACAG:T | donor_loss | 0.8900 |
| 7:1688147:ACAG:A | donor_loss | 0.8900 |
| 7:1688149:AGG:A | donor_loss | 0.8900 |
| 7:1688150:GG:G | donor_loss | 0.8900 |
| 7:1688151:G:GA | donor_loss | 0.8900 |
| 7:1688152:T:G | donor_loss | 0.8900 |
| 7:1689749:TGGC:T | donor_gain | 0.8800 |
| 7:1689750:GGCG:G | donor_gain | 0.8800 |
| 7:1709249:ACAAG:A | donor_loss | 0.8800 |
| 7:1709250:CAAG:C | donor_loss | 0.8800 |
| 7:1709251:AAG:A | donor_loss | 0.8800 |
| 7:1709252:AGTAA:A | donor_loss | 0.8800 |
| 7:1709253:GTAAG:G | donor_loss | 0.8800 |
AlphaMissense
5329 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:1744790:T:C | L65P | 1.000 |
| 7:1744805:A:T | N70I | 1.000 |
| 7:1744806:C:A | N70K | 1.000 |
| 7:1744806:C:G | N70K | 1.000 |
| 7:1744862:T:C | L89P | 1.000 |
| 7:1744868:T:C | L91P | 1.000 |
| 7:1744877:A:T | N94I | 1.000 |
| 7:1744878:C:A | N94K | 1.000 |
| 7:1744878:C:G | N94K | 1.000 |
| 7:1744950:C:A | N118K | 1.000 |
| 7:1744950:C:G | N118K | 1.000 |
| 7:1745022:C:A | N142K | 1.000 |
| 7:1745022:C:G | N142K | 1.000 |
| 7:1745084:T:C | L163P | 1.000 |
| 7:1745093:A:T | N166I | 1.000 |
| 7:1745094:C:A | N166K | 1.000 |
| 7:1745094:C:G | N166K | 1.000 |
| 7:1744714:T:A | W40R | 0.999 |
| 7:1744714:T:C | W40R | 0.999 |
| 7:1744718:T:C | L41P | 0.999 |
| 7:1744726:T:C | C44R | 0.999 |
| 7:1744727:G:A | C44Y | 0.999 |
| 7:1744728:C:G | C44W | 0.999 |
| 7:1744796:T:A | L67H | 0.999 |
| 7:1744796:T:C | L67P | 0.999 |
| 7:1744804:A:G | N70D | 0.999 |
| 7:1744811:T:C | I72T | 0.999 |
| 7:1744853:T:A | L86H | 0.999 |
| 7:1744853:T:C | L86P | 0.999 |
| 7:1744862:T:A | L89H | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000010891 (7:1693398 G>A,T), RS1000021918 (7:1667649 C>T), RS1000024525 (7:1700322 G>A), RS1000045716 (7:1744603 G>A), RS1000075173 (7:1691645 C>A,T), RS1000090724 (7:1744631 G>A), RS1000175904 (7:1732726 A>C), RS1000237401 (7:1732498 A>G), RS1000265957 (7:1695979 G>A), RS1000269596 (7:1741166 G>A,C), RS1000272977 (7:1676824 C>T), RS1000274282 (7:1680834 T>C), RS1000276417 (7:1727818 G>A), RS1000289620 (7:1732199 C>A,G,T), RS1000350433 (7:1705075 C>T)
Disease associations
OMIM: gene MIM:614964 | disease phenotypes: MIM:621344
GenCC curated gene-disease
Mondo (1): Dursun-Ozgul neurodevelopmental syndrome (MONDO:0979898)
Orphanet (0):
HPO phenotypes
120 total (30 of 120 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000154 | Wide mouth |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000232 | Everted lower lip vermilion |
| HP:0000252 | Microcephaly |
| HP:0000276 | Long face |
| HP:0000278 | Retrognathia |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000297 | Facial hypotonia |
| HP:0000307 | Pointed chin |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000322 | Short philtrum |
| HP:0000325 | Triangular face |
| HP:0000341 | Narrow forehead |
| HP:0000343 | Long philtrum |
| HP:0000365 | Hearing impairment |
| HP:0000400 | Macrotia |
| HP:0000426 | Prominent nasal bridge |
| HP:0000486 | Strabismus |
| HP:0000490 | Deeply set eye |
| HP:0000520 | Proptosis |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000639 | Nystagmus |
| HP:0000664 | Synophrys |
| HP:0000729 | Autistic behavior |
| HP:0000733 | Motor stereotypy |
| HP:0000742 | Self-mutilation |
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006479_87 | Diverticular disease | 1.000000e-06 |
| GCST006940_34 | Neurociticism | 8.000000e-09 |
| GCST006943_43 | Feeling miserable | 6.000000e-12 |
| GCST007094_162 | Diastolic blood pressure | 9.000000e-06 |
| GCST007099_232 | Systolic blood pressure | 1.000000e-08 |
| GCST007603_39 | Smoking initiation | 3.000000e-10 |
| GCST008114_6 | Type 2 diabetes | 3.000000e-06 |
| GCST008832_2 | Gastroesophageal reflux disease | 3.000000e-09 |
| GCST011703_79 | Smoking initiation | 3.000000e-12 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009959 | diverticular disease |
| EFO:0007660 | neuroticism measurement |
| EFO:0009598 | feeling miserable measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006335 | systolic blood pressure |
| EFO:0005670 | smoking initiation |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, affects methylation | 3 |
| Valproic Acid | increases expression, increases methylation, affects expression | 3 |
| (+)-JQ1 compound | decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid | increases abundance, affects methylation | 1 |
| tobacco tar | decreases reaction, increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| diallyl disulfide | decreases reaction, increases expression | 1 |
| allyl sulfide | increases expression, decreases reaction | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| Cannabinoids | affects methylation, increases abundance | 1 |
| Dexamethasone | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Methotrexate | decreases expression | 1 |
| Niclosamide | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SL87 | HAP1 ELFN1 (-) 1 | Cancer cell line | Male |
| CVCL_SL88 | HAP1 ELFN1 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Dursun-Ozgul neurodevelopmental syndrome, gastroesophageal reflux disease