MGARP
geneOn this page
Also known as OSAPCESP-1HUMMR
Summary
MGARP (mitochondria localized glutamic acid rich protein, HGNC:29969) is a protein-coding gene on chromosome 4q31.1, encoding Protein MGARP (Q8TDB4). Plays a role in the trafficking of mitochondria along microtubules.
Predicted to be involved in several processes, including axonal transport; cellular response to gonadotropin-releasing hormone; and nervous system development. Located in mitochondrion.
Source: NCBI Gene 84709 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 15 total — 1 likely-pathogenic
- MANE Select transcript:
NM_032623
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29969 |
| Approved symbol | MGARP |
| Name | mitochondria localized glutamic acid rich protein |
| Location | 4q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OSAP, CESP-1, HUMMR |
| Ensembl gene | ENSG00000137463 |
| Ensembl biotype | protein_coding |
| OMIM | 619684 |
| Entrez | 84709 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000398955, ENST00000962439
RefSeq mRNA: 1 — MANE Select: NM_032623
NM_032623
CCDS: CCDS43269
Canonical transcript exons
ENST00000398955 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001147363 | 139280077 | 139280225 |
| ENSE00001535760 | 139266165 | 139267041 |
| ENSE00003473118 | 139268672 | 139268765 |
| ENSE00003527937 | 139275289 | 139275392 |
Expression profiles
Bgee: expression breadth ubiquitous, 165 present calls, max score 99.20.
FANTOM5 (CAGE): breadth broad, TPM avg 6.5970 / max 530.4827, expressed in 795 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 54054 | 6.3171 | 794 |
| 54055 | 0.1750 | 61 |
| 54056 | 0.1048 | 40 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 99.20 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.96 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.90 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.62 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.59 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.50 | gold quality |
| adrenal gland | UBERON:0002369 | 96.97 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 95.22 | gold quality |
| parietal pleura | UBERON:0002400 | 92.75 | gold quality |
| ovary | UBERON:0000992 | 84.32 | gold quality |
| right ovary | UBERON:0002118 | 84.04 | gold quality |
| left ovary | UBERON:0002119 | 83.84 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 82.79 | gold quality |
| cerebellar cortex | UBERON:0002129 | 82.71 | gold quality |
| adenohypophysis | UBERON:0002196 | 82.42 | gold quality |
| pituitary gland | UBERON:0000007 | 82.14 | gold quality |
| cerebellum | UBERON:0002037 | 81.98 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 81.10 | gold quality |
| ascending aorta | UBERON:0001496 | 78.53 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.52 | gold quality |
| thoracic aorta | UBERON:0001515 | 78.37 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 76.24 | gold quality |
| omental fat pad | UBERON:0010414 | 74.68 | gold quality |
| peritoneum | UBERON:0002358 | 74.59 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 72.82 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 72.71 | gold quality |
| right coronary artery | UBERON:0001625 | 72.68 | gold quality |
| body of uterus | UBERON:0009853 | 71.90 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 71.62 | silver quality |
| hypothalamus | UBERON:0001898 | 71.60 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 35.24 |
| E-GEOD-137537 | yes | 30.09 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ESR1, SP1
miRNA regulators (miRDB)
62 targeting MGARP, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| 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-548AQ-5P | 99.94 | 71.34 | 3426 |
| 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 |
Literature-anchored findings (GeneRIF, showing 5)
- OSAP is prominently expressed in steroidogenic tissues; results suggest that OSAP is involved in steroidogenesis, potentially through its ability to maintain mitochondrial abundance and morphology (PMID:19325000)
- Results identify a novel mitochondria protein, hypoxia up-regulated mitochondrial movement regulator (HUMMR), which is expressed in neurons and is markedly induced by hypoxia-inducible factor 1 alpha (HIF-1alpha). (PMID:19528298)
- Results identify a mitochondria-localized glutamic acid-rich protein (MGARP/OSAP) as one of the highly expressed proteins in retina. (PMID:20107910)
- The present study identified a proximal core sequence in the MGARP promoter that is composed of two enriched Sp1 binding motifs and established Sp1 as one major MGARP transactivator. (PMID:23209644)
- MGARP overexpression caused both mitochondrial remodeling and cristae shaping, leading to the collapse of the mitochondrial network. The mitochondrial morphologies in MGARP-overexpressing cells were diverse; the cells became round or short, and their cristae were deformed and became discontinuous or circular. (PMID:31202457)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mgarpa | ENSDARG00000071353 |
| mus_musculus | Mgarp | ENSMUSG00000037161 |
| rattus_norvegicus | Mgarp | ENSRNOG00000011923 |
Protein
Protein identifiers
Protein MGARP — Q8TDB4 (reviewed: Q8TDB4)
Alternative names: Corneal endothelium-specific protein 1, Hypoxia up-regulated mitochondrial movement regulator protein, Mitochondria-localized glutamic acid-rich protein, Ovary-specific acidic protein
All UniProt accessions (1): Q8TDB4
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the trafficking of mitochondria along microtubules. Regulates the kinesin-mediated axonal transport of mitochondria to nerve terminals along microtubules during hypoxia. Participates in the translocation of TRAK2/GRIF1 from the cytoplasm to the mitochondrion. Also plays a role in steroidogenesis through maintenance of mitochondrial abundance and morphology. Plays an inhibitory role during neocortex development by regulating mitochondrial morphology, distribution and motility in neocortical neurons.
Subunit / interactions. Interacts with RHOT1/Miro-1, TRAK1/OIP106 and TRAK2/GRIF1. Interacts with RHOT2/Miro-2.
Subcellular location. Mitochondrion. Mitochondrion outer membrane. Mitochondrion inner membrane.
Tissue specificity. Expressed in the brain, adrenal gland and corneal endothelium (CE). Expressed in steroid-producing cells of the ovary and testis (at protein level). Expressed in steroid-producing cells of the ovary and testis. Weakly expressed in placenta. Expressed in corneal endothelial cells.
RefSeq proteins (1): NP_116012* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026093 | MGARP | Family |
| IPR032773 | MGARP_N | Domain |
Pfam: PF14962
UniProt features (11 total): compositionally biased region 4, topological domain 2, chain 1, sequence conflict 1, transmembrane region 1, region of interest 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TDB4-F1 | 55.28 | 0.04 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 171 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_DENDRITE_DEVELOPMENT, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, BENPORATH_ES_WITH_H3K27ME3, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_PROTEIN_TARGETING, GOBP_NEUROGENESIS, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION
GO Biological Process (11): obsolete protein targeting to mitochondrion (GO:0006626), anterograde axonal transport (GO:0008089), retrograde axonal transport (GO:0008090), regulation of mitochondrion organization (GO:0010821), axonal transport of mitochondrion (GO:0019896), cerebral cortex development (GO:0021987), axon development (GO:0061564), cellular response to steroid hormone stimulus (GO:0071383), cellular response to hypoxia (GO:0071456), cellular response to gonadotropin-releasing hormone (GO:0097211), negative regulation of dendrite development (GO:2000171)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), mitochondrial inner membrane (GO:0005743), axon cytoplasm (GO:1904115), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| axonal transport | 3 |
| axon cytoplasm | 3 |
| mitochondrial membrane | 2 |
| mitochondrion organization | 1 |
| regulation of organelle organization | 1 |
| mitochondrion transport along microtubule | 1 |
| pallium development | 1 |
| anatomical structure development | 1 |
| neuron projection development | 1 |
| cellular response to hormone stimulus | 1 |
| response to steroid hormone | 1 |
| cellular response to lipid | 1 |
| response to hypoxia | 1 |
| cellular response to stress | 1 |
| cellular response to decreased oxygen levels | 1 |
| cellular response to peptide hormone stimulus | 1 |
| response to gonadotropin-releasing hormone | 1 |
| negative regulation of neuron projection development | 1 |
| dendrite development | 1 |
| regulation of dendrite development | 1 |
| negative regulation of developmental process | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle outer membrane | 1 |
| organelle inner membrane | 1 |
| axon | 1 |
| neuron projection cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1036 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MGARP | FAM228B | P0C875 | 450 |
| MGARP | SDHAF1 | A6NFY7 | 435 |
| MGARP | THOC7 | Q6I9Y2 | 429 |
| MGARP | TRAK2 | O60296 | 419 |
| MGARP | NFU1 | Q9UMS0 | 408 |
| MGARP | TRAK1 | Q9UPV9 | 391 |
| MGARP | SYBU | Q9NX95 | 381 |
| MGARP | CMSS1 | Q9BQ75 | 379 |
| MGARP | MZF1 | P28698 | 378 |
| MGARP | OR4D5 | Q8NGN0 | 377 |
| MGARP | SNPH | O15079 | 371 |
| MGARP | ST6GAL2 | Q96JF0 | 371 |
| MGARP | SLC35G1 | Q2M3R5 | 368 |
| MGARP | KIFBP | Q96EK5 | 364 |
| MGARP | RGCC | Q9H4X1 | 346 |
IntAct
106 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MGARP | A2M | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGARP | APBB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGARP | APP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGARP | DNM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGARP | TOR1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGARP | psi-mi:“MI:0915”(physical association) | 0.560 | |
| MGARP | MECP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRKN | MGARP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGARP | PMP22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGARP | PSEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PSEN2 | MGARP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGARP | SMN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGARP | OPTN | psi-mi:“MI:0915”(physical association) | 0.560 |
| GDAP1 | MGARP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGARP | ALS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SOD1 | MGARP | psi-mi:“MI:0915”(physical association) | 0.560 |
| APP | MGARP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNCA | MGARP | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | MGARP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATXN1 | MGARP | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (225): MGARP (Two-hybrid), MGARP (Affinity Capture-MS), RHOT1 (Affinity Capture-Western), RHOT2 (Affinity Capture-Western), TRAK2 (Affinity Capture-Western), TRAK1 (Affinity Capture-Western), MGARP (Affinity Capture-Western), MGARP (Affinity Capture-Western), MGARP (Co-fractionation), SDF4 (Co-fractionation), GRPEL1 (Co-fractionation), MGARP (Co-fractionation), FKBP10 (Co-fractionation), MGARP (Co-fractionation), RCN3 (Co-fractionation)
ESM2 similar proteins: A2TJV2, A6QLZ1, O15231, O75363, O75952, P19332, P20810, P24275, P24588, P27123, P27546, P27816, P36225, P49342, P51125, P62025, Q02952, Q16799, Q3T0A6, Q3ZB98, Q4R3X7, Q571C7, Q5FVI4, Q5IS59, Q5M7W5, Q5QD51, Q62394, Q64548, Q6FW26, Q6RJR6, Q710D7, Q7TT18, Q80YN3, Q811Q2, Q8BHB9, Q8C4A5, Q8GUP3, Q8K0T0, Q8N111, Q8TDB4
Diamond homologs: A6QLZ1, Q8TDB4, Q8VI64
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 25 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| adult locomotory behavior | 5 | 65.4× | 3e-06 |
| negative regulation of neuron apoptotic process | 5 | 24.1× | 2e-04 |
| positive regulation of apoptotic process | 7 | 17.3× | 1e-05 |
| negative regulation of gene expression | 5 | 15.0× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
15 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 11 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3338450 | GRCh37/hg19 4q31.1(chr4:140187697-140394334)x1 | Likely pathogenic |
SpliceAI
700 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:139275287:A:AC | donor_gain | 1.0000 |
| 4:139275288:C:CC | donor_gain | 1.0000 |
| 4:139275391:TG:T | acceptor_gain | 1.0000 |
| 4:139275392:GCT:G | acceptor_loss | 1.0000 |
| 4:139275393:C:CC | acceptor_gain | 1.0000 |
| 4:139275393:C:T | acceptor_loss | 1.0000 |
| 4:139268667:TTTA:T | donor_loss | 0.9900 |
| 4:139268668:TTACC:T | donor_loss | 0.9900 |
| 4:139268669:TACC:T | donor_loss | 0.9900 |
| 4:139268670:A:T | donor_loss | 0.9900 |
| 4:139268671:CCTT:C | donor_loss | 0.9900 |
| 4:139268766:C:CC | acceptor_gain | 0.9900 |
| 4:139275388:AGATG:A | acceptor_gain | 0.9900 |
| 4:139275389:GATG:G | acceptor_gain | 0.9900 |
| 4:139275390:ATG:A | acceptor_gain | 0.9900 |
| 4:139279888:A:AC | donor_gain | 0.9900 |
| 4:139279889:C:CC | donor_gain | 0.9900 |
| 4:139279891:T:TA | donor_gain | 0.9900 |
| 4:139280075:ACCGT:A | donor_gain | 0.9900 |
| 4:139280076:CCGTC:C | donor_gain | 0.9900 |
| 4:139267039:CACCT:C | acceptor_loss | 0.9800 |
| 4:139267040:ACC:A | acceptor_loss | 0.9800 |
| 4:139267041:CC:C | acceptor_loss | 0.9800 |
| 4:139267044:T:TC | acceptor_gain | 0.9800 |
| 4:139275308:A:AC | donor_gain | 0.9800 |
| 4:139275309:C:CC | donor_gain | 0.9800 |
| 4:139279892:C:A | donor_gain | 0.9800 |
| 4:139280066:T:TA | donor_gain | 0.9800 |
| 4:139267042:C:CC | acceptor_gain | 0.9700 |
| 4:139267051:T:TC | acceptor_gain | 0.9700 |
AlphaMissense
1540 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:139275304:A:C | S57R | 0.998 |
| 4:139275304:A:T | S57R | 0.998 |
| 4:139275306:T:G | S57R | 0.998 |
| 4:139275302:G:T | A58D | 0.996 |
| 4:139275308:A:T | V56D | 0.996 |
| 4:139275299:C:T | G59D | 0.995 |
| 4:139275318:C:G | G53R | 0.994 |
| 4:139275317:C:T | G53D | 0.993 |
| 4:139275314:A:T | V54D | 0.992 |
| 4:139275311:G:T | T55K | 0.989 |
| 4:139275320:A:T | V52E | 0.989 |
| 4:139275296:C:T | G60E | 0.986 |
| 4:139275300:C:G | G59R | 0.986 |
| 4:139275303:C:G | A58P | 0.986 |
| 4:139275311:G:C | T55R | 0.985 |
| 4:139275323:A:T | V51D | 0.985 |
| 4:139275294:A:C | Y61D | 0.984 |
| 4:139275297:C:G | G60R | 0.984 |
| 4:139275297:C:T | G60R | 0.984 |
| 4:139275326:A:T | L50Q | 0.973 |
| 4:139268762:A:C | Y64D | 0.968 |
| 4:139275326:A:C | L50R | 0.966 |
| 4:139268764:G:T | A63D | 0.963 |
| 4:139275291:A:C | Y62D | 0.950 |
| 4:139280139:A:T | V7D | 0.946 |
| 4:139275333:A:C | Y48D | 0.940 |
| 4:139275326:A:G | L50P | 0.938 |
| 4:139275305:C:T | S57N | 0.933 |
| 4:139275294:A:T | Y61N | 0.932 |
| 4:139280145:C:A | R5M | 0.930 |
dbSNP variants (sampled 300 via entrez): RS1000293754 (4:139278962 G>C), RS1000327890 (4:139273510 CTTTTTTTTTTTTT>C,CTT,CTTT,CTTTT,CTTTTT,CTTTTTT,CTTTTTTTTT,CTTTTTTTTTT,CTTTTTTTTTTT,CTTTTTTTTTTTT,CTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT), RS1000380191 (4:139273254 C>T), RS1000380717 (4:139266563 A>G), RS1000582062 (4:139279248 C>G,T), RS1000611732 (4:139279584 C>T), RS1000664751 (4:139272086 A>G), RS1000950358 (4:139267747 G>A), RS1002237315 (4:139275741 A>G,T), RS1002308080 (4:139281713 A>G,T), RS1002555266 (4:139275487 C>T), RS1002599956 (4:139282076 T>A), RS1002624603 (4:139276933 A>G), RS1002912917 (4:139275760 A>T), RS1002957863 (4:139271283 T>C)
Disease associations
OMIM: gene MIM:619684 | disease phenotypes: MIM:617787
GenCC curated gene-disease
Mondo (1): intellectual disability, autosomal dominant 50 (MONDO:0030916)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90000654_16 | Central corneal thickness | 4.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005213 | central corneal thickness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 4 |
| methylmercuric chloride | decreases expression, increases expression | 2 |
| bisphenol A | increases expression, affects cotreatment | 2 |
| trichostatin A | increases expression | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tretinoin | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| alpha phellandrene | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| nickel sulfate | increases expression | 1 |
| isobutyl alcohol | increases abundance, affects cotreatment, decreases expression | 1 |
| mercuric bromide | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| pentanal | increases expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment, increases expression | 1 |
| licochalcone B | increases expression | 1 |
| bisphenol S | affects cotreatment, increases methylation | 1 |
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): intellectual disability, autosomal dominant 50