ESAM
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Also known as W117m
Summary
ESAM (endothelial cell adhesion molecule, HGNC:17474) is a protein-coding gene on chromosome 11q24.2, encoding Endothelial cell-selective adhesion molecule (Q96AP7). Can mediate aggregation most likely through a homophilic molecular interaction.
Enables cell-cell adhesion mediator activity. Involved in several processes, including bicellular tight junction assembly; cell-cell adhesion; and regulation of actin filament polymerization. Located in cell-cell junction and plasma membrane. Part of protein-containing complex.
Source: NCBI Gene 90952 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (Definitive, GenCC)
- GWAS associations: 5
- Clinical variants (ClinVar): 86 total — 1 pathogenic, 6 likely-pathogenic
- Phenotypes (HPO): 93
- MANE Select transcript:
NM_138961
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17474 |
| Approved symbol | ESAM |
| Name | endothelial cell adhesion molecule |
| Location | 11q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | W117m |
| Ensembl gene | ENSG00000149564 |
| Ensembl biotype | protein_coding |
| OMIM | 614281 |
| Entrez | 90952 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000278927, ENST00000417453, ENST00000435477, ENST00000444566, ENST00000464067, ENST00000485116, ENST00000906450, ENST00000906451, ENST00000906452, ENST00000906453, ENST00000942605, ENST00000942606
RefSeq mRNA: 1 — MANE Select: NM_138961
NM_138961
CCDS: CCDS8453
Canonical transcript exons
ENST00000278927 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000991328 | 124756541 | 124756742 |
| ENSE00001014314 | 124758349 | 124758527 |
| ENSE00001695509 | 124762085 | 124762290 |
| ENSE00003494011 | 124756207 | 124756362 |
| ENSE00003561465 | 124753126 | 124753961 |
| ENSE00003568182 | 124754641 | 124754763 |
| ENSE00003665246 | 124754214 | 124754340 |
Expression profiles
Bgee: expression breadth ubiquitous, 227 present calls, max score 98.57.
FANTOM5 (CAGE): breadth broad, TPM avg 10.7628 / max 505.7369, expressed in 787 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 122959 | 10.4986 | 732 |
| 122960 | 0.2641 | 63 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lung | UBERON:0002167 | 98.57 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.47 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.40 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.35 | gold quality |
| right coronary artery | UBERON:0001625 | 98.31 | gold quality |
| popliteal artery | UBERON:0002250 | 98.12 | gold quality |
| tibial artery | UBERON:0007610 | 98.12 | gold quality |
| upper lobe of lung | UBERON:0008948 | 98.05 | gold quality |
| thyroid gland | UBERON:0002046 | 97.88 | gold quality |
| apex of heart | UBERON:0002098 | 97.69 | gold quality |
| left coronary artery | UBERON:0001626 | 97.59 | gold quality |
| omental fat pad | UBERON:0010414 | 97.34 | gold quality |
| coronary artery | UBERON:0001621 | 97.27 | gold quality |
| peritoneum | UBERON:0002358 | 97.27 | gold quality |
| aorta | UBERON:0000947 | 96.74 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 96.72 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 96.06 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.99 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.40 | gold quality |
| cardiac ventricle | UBERON:0002082 | 95.11 | gold quality |
| ascending aorta | UBERON:0001496 | 95.10 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.09 | gold quality |
| lung | UBERON:0002048 | 94.82 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.69 | gold quality |
| left uterine tube | UBERON:0001303 | 94.56 | gold quality |
| heart | UBERON:0000948 | 94.39 | gold quality |
| body of uterus | UBERON:0009853 | 94.24 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.22 | gold quality |
| placenta | UBERON:0001987 | 93.90 | gold quality |
| cardiac atrium | UBERON:0002081 | 93.89 | gold quality |
Single-cell (SCXA)
Detected in 29 experiment(s), a significant marker in 29.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10662 | yes | 1501.59 |
| E-MTAB-10137 | yes | 1127.78 |
| E-MTAB-8142 | yes | 1005.99 |
| E-MTAB-9906 | yes | 860.16 |
| E-MTAB-8221 | yes | 822.81 |
| E-MTAB-8271 | yes | 775.50 |
| E-ANND-5 | yes | 524.26 |
| E-CURD-7 | yes | 432.71 |
| E-ENAD-21 | yes | 412.20 |
| E-GEOD-83139 | yes | 309.56 |
| E-MTAB-10287 | yes | 79.91 |
| E-GEOD-134144 | yes | 53.45 |
| E-HCAD-1 | yes | 48.23 |
| E-HCAD-11 | yes | 48.18 |
| E-HCAD-10 | yes | 46.36 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NFKB
miRNA regulators (miRDB)
41 targeting ESAM, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-3152-3P | 99.10 | 66.35 | 678 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-6737-3P | 98.95 | 68.56 | 1577 |
| HSA-MIR-7157-3P | 98.95 | 68.70 | 1582 |
| HSA-MIR-6889-3P | 98.84 | 67.35 | 1198 |
| HSA-MIR-5008-3P | 98.73 | 67.50 | 1433 |
| HSA-MIR-6529-3P | 98.68 | 66.76 | 1020 |
| HSA-MIR-4725-5P | 98.67 | 65.42 | 628 |
| HSA-MIR-504-5P | 98.67 | 65.40 | 631 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-4662A-5P | 98.48 | 67.18 | 1007 |
| HSA-MIR-6827-5P | 98.46 | 64.88 | 1256 |
| HSA-MIR-4483 | 98.09 | 64.12 | 1642 |
Literature-anchored findings (GeneRIF, showing 7)
- sESAM is a predictive biomarker and potential mediator of atherosclerosis. (PMID:19759376)
- ESAM regulates tumor metastasis through endothelial cell migration and tube formation in metastatic nodules. (PMID:20153339)
- sESAM is associated with albuminuria and reduced kidney function in patients with coronary artery disease in both cross-sectional and longitudinal analyses. (PMID:24177327)
- Serum ESAM is higher in type 2 diabetes mellitus than in controls and parallels oxidative stress. (PMID:24456423)
- sESAM levels associate with myocardial infarction, heart failure, and death after adjustment for demographic and clinical risk factors, but not after adjustment for kidney function. (PMID:26523992)
- ESAM is a novel human hematopoietic stem cell marker associated with a subset of human leukemias (PMID:26774386)
- Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. (PMID:36996813)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | esamb | ENSDARG00000076639 |
| danio_rerio | esama | ENSDARG00000077039 |
| danio_rerio | gpa33a | ENSDARG00000100223 |
| mus_musculus | Esam | ENSMUSG00000001946 |
| rattus_norvegicus | Esam | ENSRNOG00000033217 |
Paralogs (14): VSIG2 (ENSG00000019102), VSIG1 (ENSG00000101842), VSIR (ENSG00000107738), GPA33 (ENSG00000143167), IGSF11 (ENSG00000144847), CXADR (ENSG00000154639), JAM2 (ENSG00000154721), F11R (ENSG00000158769), MXRA8 (ENSG00000162576), JAM3 (ENSG00000166086), CLMP (ENSG00000166250), MUC15 (ENSG00000169550), VSTM2B (ENSG00000187135), VSIG8 (ENSG00000243284)
Protein
Protein identifiers
Endothelial cell-selective adhesion molecule — Q96AP7 (reviewed: Q96AP7)
All UniProt accessions (3): Q96AP7, C9JIE7, F8WDW9
UniProt curated annotations — full annotation on UniProt →
Function. Can mediate aggregation most likely through a homophilic molecular interaction.
Subunit / interactions. Interacts with MAGI1.
Subcellular location. Cell junction. Adherens junction. Tight junction. Cell membrane.
Tissue specificity. Highly expressed in endothelial cells.
Disease relevance. Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) [MIM:620371] An autosomal recessive disease characterized by prenatal or neonatal onset of intracranial hemorrhage, ventriculomegaly and cerebral calcifications. Affected individuals have profound global developmental delay, intellectual disability, epilepsy, absent or severely delayed speech, and varying degrees of spasticity. Death in utero or in early childhood may occur. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96AP7-1 | 1 | yes |
| Q96AP7-2 | 2 |
RefSeq proteins (1): NP_620411* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR042757 | ESAM | Family |
Pfam: PF07686, PF13927
UniProt features (27 total): modified residue 7, glycosylation site 4, splice variant 3, topological domain 2, sequence variant 2, domain 2, signal peptide 1, chain 1, disulfide bond 1, sequence conflict 1, transmembrane region 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96AP7-F1 | 78.13 | 0.53 |
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 (7): 332, 334, 336, 339, 344, 371, 301
Disulfide bonds (1): 174–224
Glycosylation sites (4): 108, 169, 213, 236
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-202733 | Cell surface interactions at the vascular wall |
MSigDB gene sets: 421 (showing top):
GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_APICAL_JUNCTION_ASSEMBLY, TGACCTY_ERR1_Q2, MEF2_02, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, CLASPER_LYMPHATIC_VESSELS_DURING_METASTASIS_UP, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, PU1_Q6
GO Biological Process (8): homophilic cell-cell adhesion (GO:0007156), intracellular protein localization (GO:0008104), regulation of actin filament polymerization (GO:0030833), regulation of actin cytoskeleton organization (GO:0032956), maintenance of blood-brain barrier (GO:0035633), bicellular tight junction assembly (GO:0070830), cell-cell adhesion (GO:0098609), cell adhesion (GO:0007155)
GO Molecular Function (2): cell-cell adhesion mediator activity (GO:0098632), protein binding (GO:0005515)
GO Cellular Component (7): plasma membrane (GO:0005886), cell-cell junction (GO:0005911), adherens junction (GO:0005912), bicellular tight junction (GO:0005923), protein-containing complex (GO:0032991), membrane (GO:0016020), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Hemostasis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell-cell adhesion | 2 |
| macromolecule localization | 1 |
| regulation of actin polymerization or depolymerization | 1 |
| actin filament polymerization | 1 |
| regulation of protein polymerization | 1 |
| actin cytoskeleton organization | 1 |
| regulation of actin filament-based process | 1 |
| regulation of cytoskeleton organization | 1 |
| tissue homeostasis | 1 |
| apical junction assembly | 1 |
| tight junction assembly | 1 |
| cell adhesion | 1 |
| cellular process | 1 |
| cell adhesion mediator activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| anchoring junction | 1 |
| cell-cell junction | 1 |
| apical junction complex | 1 |
| tight junction | 1 |
| cellular_component | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1191 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ESAM | OCLN | Q16625 | 970 |
| ESAM | TJP1 | Q07157 | 857 |
| ESAM | CDH5 | P33151 | 811 |
| ESAM | CLDN5 | O00501 | 754 |
| ESAM | ATP1B1 | P05026 | 746 |
| ESAM | SELE | P16111 | 734 |
| ESAM | VCAM1 | P19320 | 734 |
| ESAM | SELP | P16109 | 712 |
| ESAM | VWF | P04275 | 654 |
| ESAM | PECAM1 | P16284 | 639 |
| ESAM | IGSF5 | Q9NSI5 | 604 |
| ESAM | KDR | P35968 | 598 |
| ESAM | CD34 | P28906 | 590 |
| ESAM | MARVELD2 | Q8N4S9 | 589 |
| ESAM | SELL | P14151 | 583 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ESAM | ESAM | psi-mi:“MI:0915”(physical association) | 0.610 |
| ESAM | ESAM | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| TTMP | ESAM | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMBIM6 | ESAM | psi-mi:“MI:0915”(physical association) | 0.560 |
| ESAM | TOP1 | psi-mi:“MI:0914”(association) | 0.350 |
| ENG | IGKV2-28 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (11): MPHOSPH8 (Affinity Capture-MS), TOP1 (Affinity Capture-MS), MDC1 (Affinity Capture-MS), CENPF (Affinity Capture-MS), ESAM (Protein-RNA), ESAM (Two-hybrid), ESAM (Two-hybrid), ESAM (Affinity Capture-MS), ESAM (Affinity Capture-MS), ESAM (Protein-peptide), ESAM (Reconstituted Complex)
ESM2 similar proteins: A0A140LHF2, A6H8M9, A7LCJ3, A8E0Y8, D3YX43, D3YZF7, O14498, O15197, O70394, O70540, P01877, P0C0K6, P0C788, P0DP72, P35590, P40223, P43121, P50895, P70289, Q00657, Q06418, Q06805, Q15109, Q28173, Q5BK54, Q5NVQ6, Q5TJE4, Q61790, Q61826, Q62151, Q62230, Q63495, Q64612, Q6UVK1, Q6UWB1, Q7Z442, Q86VR7, Q8IZF5, Q8R2Y2, Q8VHY0
Diamond homologs: A0A0R4IGV4, A2AJ76, A2ASS6, A3KPA0, D3YXG0, G4SLH0, G5EBF1, O14511, O35569, O88792, P35969, P53767, P56974, P57087, Q00872, Q05793, Q14896, Q2WGK2, Q3UQ28, Q5VST9, Q62718, Q68FQ2, Q7TSU7, Q8NDA2, Q8WZ42, Q95KI3, Q96AP7, Q96RW7, Q99795, Q99PJ0, Q9BX67, Q9D8B7, Q9I7U4, Q9JHY1, Q9JI59, Q9PWR4, Q9VZZ4, Q9XT56, Q9Y624, B4LRN7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
86 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 6 |
| Uncertain significance | 59 |
| Likely benign | 10 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (7)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4086789 | NM_138961.3(ESAM):c.70+1G>T | Pathogenic |
| 1810270 | NM_138961.3(ESAM):c.115del (p.Arg39fs) | Likely pathogenic |
| 1810271 | NM_138961.3(ESAM):c.287del (p.Pro96fs) | Likely pathogenic |
| 1810272 | NM_138961.3(ESAM):c.35T>A (p.Leu12Ter) | Likely pathogenic |
| 1810273 | NM_138961.3(ESAM):c.451+1G>A | Likely pathogenic |
| 3065558 | NM_138961.3(ESAM):c.949C>T (p.Arg317Ter) | Likely pathogenic |
| 4086169 | NM_138961.3(ESAM):c.608-1G>A | Likely pathogenic |
SpliceAI
1196 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:124754207:CACTT:C | donor_loss | 1.0000 |
| 11:124754208:ACTTA:A | donor_loss | 1.0000 |
| 11:124754209:CTTAC:C | donor_loss | 1.0000 |
| 11:124754210:TTA:T | donor_loss | 1.0000 |
| 11:124754211:TACT:T | donor_loss | 1.0000 |
| 11:124754212:A:AC | donor_gain | 1.0000 |
| 11:124754212:ACTTG:A | donor_loss | 1.0000 |
| 11:124754213:C:CA | donor_gain | 1.0000 |
| 11:124754213:CT:C | donor_gain | 1.0000 |
| 11:124754213:CTT:C | donor_gain | 1.0000 |
| 11:124754213:CTTG:C | donor_gain | 1.0000 |
| 11:124754213:CTTGA:C | donor_gain | 1.0000 |
| 11:124754337:GGCC:G | acceptor_gain | 1.0000 |
| 11:124754338:GCC:G | acceptor_gain | 1.0000 |
| 11:124754339:CC:C | acceptor_gain | 1.0000 |
| 11:124754339:CCC:C | acceptor_gain | 1.0000 |
| 11:124754340:CC:C | acceptor_gain | 1.0000 |
| 11:124754341:C:CA | acceptor_loss | 1.0000 |
| 11:124754341:C:CC | acceptor_gain | 1.0000 |
| 11:124754351:CGTCG:C | acceptor_gain | 1.0000 |
| 11:124754628:ACC:A | donor_gain | 1.0000 |
| 11:124754629:CCC:C | donor_gain | 1.0000 |
| 11:124754761:CAT:C | acceptor_gain | 1.0000 |
| 11:124754762:AT:A | acceptor_gain | 1.0000 |
| 11:124754763:TCTGT:T | acceptor_loss | 1.0000 |
| 11:124754764:C:CC | acceptor_gain | 1.0000 |
| 11:124754765:T:A | acceptor_loss | 1.0000 |
| 11:124756746:G:GC | acceptor_gain | 1.0000 |
| 11:124753960:CC:C | acceptor_gain | 0.9900 |
| 11:124753961:CC:C | acceptor_gain | 0.9900 |
AlphaMissense
2470 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:124756253:C:A | W187C | 0.999 |
| 11:124756253:C:G | W187C | 0.999 |
| 11:124754700:C:G | C224S | 0.995 |
| 11:124754701:A:T | C224S | 0.995 |
| 11:124756255:A:G | W187R | 0.993 |
| 11:124756255:A:T | W187R | 0.993 |
| 11:124756622:A:C | Y124D | 0.993 |
| 11:124754700:C:T | C224Y | 0.991 |
| 11:124758381:A:G | W73R | 0.990 |
| 11:124758381:A:T | W73R | 0.990 |
| 11:124754699:G:C | C224W | 0.989 |
| 11:124754707:A:C | Y222D | 0.989 |
| 11:124756293:C:G | C174S | 0.989 |
| 11:124756294:A:T | C174S | 0.989 |
| 11:124754701:A:G | C224R | 0.987 |
| 11:124754706:T:C | Y222C | 0.987 |
| 11:124756293:C:T | C174Y | 0.984 |
| 11:124756294:A:G | C174R | 0.984 |
| 11:124756341:C:G | C158S | 0.982 |
| 11:124756342:A:T | C158S | 0.982 |
| 11:124756292:G:C | C174W | 0.981 |
| 11:124754667:C:G | C235S | 0.980 |
| 11:124754668:A:T | C235S | 0.980 |
| 11:124754700:C:A | C224F | 0.980 |
| 11:124756341:C:T | C158Y | 0.979 |
| 11:124756664:A:G | S110P | 0.978 |
| 11:124758379:C:A | W73C | 0.978 |
| 11:124758379:C:G | W73C | 0.978 |
| 11:124754668:A:G | C235R | 0.977 |
| 11:124756342:A:G | C158R | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000088138 (11:124764272 G>A,C), RS1000496097 (11:124757502 G>A), RS1000650208 (11:124757228 C>T), RS1000783278 (11:124755928 G>A), RS1001000467 (11:124763278 A>C), RS1001170168 (11:124760416 C>A,G), RS1001230595 (11:124762686 G>A,T), RS1002166256 (11:124759347 G>A), RS1002187781 (11:124754406 C>T), RS1002538230 (11:124754885 C>T), RS1002654709 (11:124754535 C>T), RS1002778550 (11:124753122 C>T), RS1003156524 (11:124753442 A>C,G), RS1003172347 (11:124757843 G>A), RS1003540411 (11:124753352 G>C)
Disease associations
OMIM: gene MIM:614281 | disease phenotypes: MIM:620371
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | Definitive | Autosomal recessive |
Mondo (1): neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (MONDO:0957267)
Orphanet (0):
HPO phenotypes
93 total (30 of 93 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000189 | Narrow palate |
| HP:0000218 | High palate |
| HP:0000232 | Everted lower lip vermilion |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000293 | Full cheeks |
| HP:0000303 | Mandibular prognathia |
| HP:0000308 | Microretrognathia |
| HP:0000319 | Smooth philtrum |
| HP:0000325 | Triangular face |
| HP:0000337 | Broad forehead |
| HP:0000341 | Narrow forehead |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000414 | Bulbous nose |
| HP:0000431 | Wide nasal bridge |
| HP:0000463 | Anteverted nares |
| HP:0000476 | Cystic hygroma |
| HP:0000506 | Telecanthus |
| HP:0000527 | Long eyelashes |
| HP:0000541 | Retinal detachment |
| HP:0000573 | Retinal hemorrhage |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000612 | Iris coloboma |
| HP:0000631 | Retinal arterial tortuosity |
| HP:0000639 | Nystagmus |
| HP:0000646 | Amblyopia |
| HP:0000664 | Synophrys |
| HP:0000750 | Delayed speech and language development |
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_10 | Schizophrenia | 3.000000e-12 |
| GCST004521_214 | Autism spectrum disorder or schizophrenia | 5.000000e-13 |
| GCST006585_44 | Blood protein levels | 3.000000e-12 |
| GCST006585_807 | Blood protein levels | 5.000000e-22 |
| GCST006803_11 | Schizophrenia | 2.000000e-15 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases methylation, increases expression | 4 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| methyleugenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| kojic acid | increases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| pentanal | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Decitabine | increases expression | 1 |
| Aldehydes | increases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity