COX7B
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Summary
COX7B (cytochrome c oxidase subunit 7B, HGNC:2291) is a protein-coding gene on chromosome Xq21.1, encoding Cytochrome c oxidase subunit 7B, mitochondrial (P24311). Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. It is a selective cancer dependency (DepMap: 70.8% of cell lines).
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22.
Source: NCBI Gene 1349 — RefSeq curated summary.
At a glance
- Gene–disease (curated): linear skin defects with multiple congenital anomalies 2 (Definitive, GenCC) — +2 more curated relationships
- Clinical variants (ClinVar): 53 total — 4 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 120
- Cancer dependency (DepMap): dependent in 70.8% of screened cell lines
- MANE Select transcript:
NM_001866
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2291 |
| Approved symbol | COX7B |
| Name | cytochrome c oxidase subunit 7B |
| Location | Xq21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000131174 |
| Ensembl biotype | protein_coding |
| OMIM | 300885 |
| Entrez | 1349 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000373335, ENST00000475465, ENST00000647835, ENST00000650309, ENST00000857759, ENST00000912755, ENST00000912756
RefSeq mRNA: 1 — MANE Select: NM_001866
NM_001866
CCDS: CCDS14437
Canonical transcript exons
ENST00000650309 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003582133 | 77902643 | 77902767 |
| ENSE00003834652 | 77899468 | 77899593 |
| ENSE00003850148 | 77905184 | 77907376 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 152.1559 / max 1027.8190, expressed in 1826 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 196775 | 152.1559 | 1826 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 99.85 | gold quality |
| apex of heart | UBERON:0002098 | 99.68 | gold quality |
| biceps brachii | UBERON:0001507 | 99.62 | gold quality |
| body of tongue | UBERON:0011876 | 99.62 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.60 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.56 | gold quality |
| diaphragm | UBERON:0001103 | 99.55 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.54 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.53 | gold quality |
| renal medulla | UBERON:0000362 | 99.51 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.51 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.50 | gold quality |
| vena cava | UBERON:0004087 | 99.47 | gold quality |
| triceps brachii | UBERON:0001509 | 99.45 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.45 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.42 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.41 | gold quality |
| tongue | UBERON:0001723 | 99.40 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.40 | gold quality |
| jejunum | UBERON:0002115 | 99.31 | gold quality |
| upper leg skin | UBERON:0004262 | 99.27 | gold quality |
| superior surface of tongue | UBERON:0007371 | 99.23 | gold quality |
| oral cavity | UBERON:0000167 | 99.22 | gold quality |
| jejunal mucosa | UBERON:0000399 | 99.22 | gold quality |
| heart | UBERON:0000948 | 99.14 | gold quality |
| mammalian vulva | UBERON:0000997 | 99.13 | gold quality |
| gingival epithelium | UBERON:0001949 | 99.12 | gold quality |
| sigmoid colon | UBERON:0001159 | 99.11 | gold quality |
| gingiva | UBERON:0001828 | 99.11 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.08 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7008 | yes | 550.23 |
| E-MTAB-8410 | yes | 46.35 |
| E-MTAB-7316 | yes | 23.73 |
| E-HCAD-10 | yes | 12.24 |
| E-MTAB-10042 | yes | 10.01 |
| E-MTAB-9388 | no | 1566.55 |
| E-MTAB-10596 | no | 1324.63 |
| E-MTAB-8271 | no | 8.99 |
| E-HCAD-13 | no | 3.09 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
11 targeting COX7B, 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-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-12129 | 99.72 | 67.45 | 1311 |
| HSA-MIR-4506 | 99.34 | 67.47 | 526 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-556-5P | 97.75 | 66.17 | 473 |
| HSA-MIR-4642 | 97.52 | 67.60 | 916 |
| HSA-MIR-1225-5P | 96.76 | 66.85 | 417 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 70.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 7b (PMID:20307258)
- Data indicate that recombinant (r)IL-24 stimulated the mitochondrial apoptotic pathway genes Bax, Bid, Casp8, COX6C, COX7B after 36 h. (PMID:22860893)
- study analyzed the X-linked COX7B and found deleterious de novo mutations in two simplex cases of microphthalmia with linear skin lesions and a nonsense mutation, which segregates with the disease, in a familial case (PMID:23122588)
- Our results offer a new transcriptome landscape of platinum-resistance that provides valuable insights into chemosensitivity and drug resistance in cancers, and we identify a novel platinum resistance gene, COX7B, and a surrogate marker, CD63. (PMID:30367559)
Cross-species orthologs
0 orthologs
Paralogs (1): COX7B2 (ENSG00000170516)
Protein
Protein identifiers
Cytochrome c oxidase subunit 7B, mitochondrial — P24311 (reviewed: P24311)
Alternative names: Cytochrome c oxidase polypeptide VIIb
All UniProt accessions (4): A0A3B3IRN8, A0A3B3ISY5, A0A3B3ITX0, P24311
UniProt curated annotations — full annotation on UniProt →
Function. Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix. Plays a role in proper central nervous system (CNS) development in vertebrates.
Subunit / interactions. Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C, COX7A2 (or COX7A1), COX7B, COX7C, COX8A and COXFA4, which are encoded in the nuclear genome. The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)).
Subcellular location. Mitochondrion inner membrane.
Disease relevance. Linear skin defects with multiple congenital anomalies 2 (LSDMCA2) [MIM:300887] A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities. The disease is caused by variants affecting the gene represented in this entry.
Pathway. Energy metabolism; oxidative phosphorylation.
Similarity. Belongs to the cytochrome c oxidase VIIb family.
RefSeq proteins (1): NP_001857* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008433 | Cyt_c_oxidase_suVIIB | Family |
| IPR023272 | Cyt_c_oxidase_suVIIB_dom_sf | Homologous_superfamily |
Pfam: PF05392
UniProt features (6 total): topological domain 2, transit peptide 1, chain 1, transmembrane region 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9I6F | ELECTRON MICROSCOPY | 2.95 |
| 9I7U | ELECTRON MICROSCOPY | 3.15 |
| 5Z62 | ELECTRON MICROSCOPY | 3.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P24311-F1 | 90.15 | 0.56 |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-5628897 | TP53 Regulates Metabolic Genes |
| R-HSA-611105 | Respiratory electron transport |
| R-HSA-9707564 | Cytoprotection by HMOX1 |
| R-HSA-9864848 | Complex IV assembly |
MSigDB gene sets: 432 (showing top):
MODULE_93, MODULE_52, HORIUCHI_WTAP_TARGETS_DN, MODULE_151, MORF_RAD21, AACYNNNNTTCCS_UNKNOWN, TGACCTY_ERR1_Q2, MODULE_16, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GOBP_MONOATOMIC_CATION_TRANSPORT, PUJANA_CHEK2_PCC_NETWORK, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, MORF_SKP1A, GOBP_OXIDATIVE_PHOSPHORYLATION
GO Biological Process (5): mitochondrial electron transport, cytochrome c to oxygen (GO:0006123), central nervous system development (GO:0007417), cellular respiration (GO:0045333), oxidative phosphorylation (GO:0006119), proton transmembrane transport (GO:1902600)
GO Molecular Function (2): cytochrome-c oxidase activity (GO:0004129), protein binding (GO:0005515)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial membrane (GO:0031966), respiratory chain complex IV (GO:0045277), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Transcriptional Regulation by TP53 | 1 |
| Aerobic respiration and respiratory electron transport | 1 |
| Cellular response to chemical stress | 1 |
| Respiratory electron transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| aerobic electron transport chain | 1 |
| mitochondrial ATP synthesis coupled electron transport | 1 |
| nervous system development | 1 |
| system development | 1 |
| energy derivation by oxidation of organic compounds | 1 |
| aerobic respiration | 1 |
| proton motive force-driven ATP synthesis | 1 |
| monoatomic cation transmembrane transport | 1 |
| electron transfer activity | 1 |
| proton transmembrane transporter activity | 1 |
| oxidoreduction-driven active transmembrane transporter activity | 1 |
| oxidoreductase activity, acting on a heme group of donors | 1 |
| active monoatomic ion transmembrane transporter activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| mitochondrion | 1 |
| mitochondrial envelope | 1 |
| organelle membrane | 1 |
| cytochrome complex | 1 |
| respiratory chain complex | 1 |
| transmembrane transporter complex | 1 |
| oxidoreductase complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1102 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COX7B | COX5B | P10606 | 970 |
| COX7B | COX6C | P09669 | 961 |
| COX7B | COX7C | P15954 | 948 |
| COX7B | COX8A | P10176 | 903 |
| COX7B | COX6A1 | P12074 | 837 |
| COX7B | COX6B1 | P14854 | 801 |
| COX7B | COX6A2 | Q02221 | 794 |
| COX7B | COXFA4 | O00483 | 765 |
| COX7B | COX5A | P20674 | 745 |
| COX7B | NDUFA1 | O15239 | 730 |
| COX7B | COX7A1 | P24310 | 705 |
| COX7B | COX7A2 | P14406 | 687 |
| COX7B | NDUFB9 | Q9Y6M9 | 683 |
| COX7B | UQCR11 | O14957 | 681 |
| COX7B | NDUFA11 | Q86Y39 | 675 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| COX7B | GNMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| COX7B | COX4I1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| MT-CO2 | NDUFA4 | psi-mi:“MI:0914”(association) | 0.350 |
| GNMT | COX7B | psi-mi:“MI:0915”(physical association) | 0.000 |
| MYB | COX7B | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (25): COX7B (Affinity Capture-RNA), COX7B (Synthetic Lethality), BCAP31 (Co-fractionation), NDUFB9 (Co-fractionation), COX7B (Co-fractionation), COX7B (Co-fractionation), COX7B (Co-fractionation), COX7B (Co-fractionation), AUH (Co-fractionation), CTNNB1 (Co-fractionation), CYFIP2 (Co-fractionation), SMDT1 (Co-fractionation), VCP (Co-fractionation), COX7B (Co-fractionation), COX7B (Co-fractionation)
ESM2 similar proteins: A1L2P2, A1XQR7, A8E7D3, A8MTT3, L0R6Q1, O48832, O64497, O82803, P11951, P13183, P14790, P24311, P43883, P46270, P80977, Q148H0, Q1LUK1, Q1MTD4, Q1RMH3, Q21154, Q28EM2, Q2ACH7, Q41112, Q4V8S3, Q5BKW8, Q5CZQ0, Q5R987, Q5XFV8, Q5XKP0, Q63ZZ0, Q68EV8, Q7SGT7, Q7YRK0, Q7YRK1, Q810Q5, Q84K90, Q8BH51, Q8BTE5, Q8R404, Q8VCR3
Diamond homologs: P13183, P24311, P56393, P80431, Q4R648, Q5R9K2, Q8TF08
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| COX7B | “form complex” | “Cytochrome c oxidase-Mitochondrial respiratory chain complex IV” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 1 |
| Uncertain significance | 13 |
| Likely benign | 18 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 39767 | NM_001866.3(COX7B):c.196del (p.Leu66fs) | Pathogenic |
| 39768 | NM_001866.3(COX7B):c.41-2A>G | Pathogenic |
| 39769 | NM_001866.2(COX7B):c.55C>T (p.Gln19Ter) | Pathogenic |
| 58660 | GRCh38/hg38 Xq21.1(chrX:77829855-77902263)x2 | Pathogenic |
| 449642 | NM_001866.3(COX7B):c.40+5G>C | Likely pathogenic |
SpliceAI
550 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:77899591:AAGGT:A | donor_loss | 1.0000 |
| X:77899593:GGTG:G | donor_loss | 1.0000 |
| X:77899595:T:A | donor_loss | 1.0000 |
| X:77902404:T:G | donor_gain | 1.0000 |
| X:77902629:C:A | acceptor_gain | 1.0000 |
| X:77902637:T:A | acceptor_gain | 1.0000 |
| X:77902640:A:AG | acceptor_gain | 1.0000 |
| X:77902641:A:G | acceptor_gain | 1.0000 |
| X:77902642:G:GG | acceptor_gain | 1.0000 |
| X:77899594:G:GG | donor_gain | 0.9900 |
| X:77902319:A:AG | acceptor_gain | 0.9900 |
| X:77902322:A:AG | acceptor_gain | 0.9900 |
| X:77902766:ATG:A | donor_loss | 0.9900 |
| X:77902767:TGTA:T | donor_loss | 0.9900 |
| X:77902768:G:GG | donor_gain | 0.9900 |
| X:77902769:T:A | donor_loss | 0.9900 |
| X:77902770:A:AC | donor_loss | 0.9900 |
| X:77902771:AG:A | donor_loss | 0.9900 |
| X:77902772:G:C | donor_loss | 0.9900 |
| X:77902320:A:G | acceptor_gain | 0.9800 |
| X:77902323:C:G | acceptor_gain | 0.9800 |
| X:77902638:GTAA:G | acceptor_loss | 0.9800 |
| X:77902640:AAG:A | acceptor_loss | 0.9800 |
| X:77902642:G:GA | acceptor_loss | 0.9800 |
| X:77902642:GTTC:G | acceptor_gain | 0.9800 |
| X:77902718:ATGCT:A | donor_loss | 0.9800 |
| X:77902765:TAT:T | donor_gain | 0.9800 |
| X:77905183:GGTA:G | acceptor_gain | 0.9800 |
| X:77905257:A:AG | donor_gain | 0.9800 |
| X:77905258:G:GG | donor_gain | 0.9800 |
AlphaMissense
522 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:77902699:T:C | F33L | 0.953 |
| X:77902701:T:A | F33L | 0.953 |
| X:77902701:T:G | F33L | 0.953 |
| X:77905249:G:C | W77C | 0.910 |
| X:77905249:G:T | W77C | 0.910 |
| X:77905208:T:A | W64R | 0.904 |
| X:77905208:T:C | W64R | 0.904 |
| X:77905247:T:A | W77R | 0.902 |
| X:77905247:T:C | W77R | 0.902 |
| X:77902747:T:C | C49R | 0.890 |
| X:77905210:G:C | W64C | 0.877 |
| X:77905210:G:T | W64C | 0.877 |
| X:77902759:T:A | W53R | 0.873 |
| X:77902759:T:C | W53R | 0.873 |
| X:77902700:T:C | F33S | 0.827 |
| X:77902700:T:G | F33C | 0.824 |
| X:77902732:A:C | S44R | 0.814 |
| X:77902734:T:A | S44R | 0.814 |
| X:77902734:T:G | S44R | 0.814 |
| X:77902730:C:A | A43D | 0.781 |
| X:77902715:G:T | G38V | 0.778 |
| X:77902744:T:C | F48L | 0.777 |
| X:77902746:C:A | F48L | 0.777 |
| X:77902746:C:G | F48L | 0.777 |
| X:77902724:T:A | V41E | 0.770 |
| X:77902727:T:C | L42S | 0.767 |
| X:77902754:T:A | V51D | 0.758 |
| X:77902736:G:A | G45E | 0.739 |
| X:77902749:T:G | C49W | 0.733 |
| X:77905248:G:C | W77S | 0.733 |
dbSNP variants (sampled 300 via entrez): RS1000220144 (X:77903384 G>A), RS1000572276 (X:77902913 G>C), RS1001391728 (X:77903792 C>T), RS1002488087 (X:77902244 A>G), RS1002787070 (X:77901778 G>A,T), RS1003057262 (X:77905947 G>A), RS1004328684 (X:77902355 T>G), RS1006021772 (X:77904267 G>T), RS1007192450 (X:77904955 A>G), RS1007655319 (X:77905508 T>G), RS1008001891 (X:77899770 A>T), RS1008034507 (X:77900272 C>G), RS1008914359 (X:77907329 A>C,G), RS1009278157 (X:77906991 G>T), RS1010180957 (X:77903437 G>A,T)
Disease associations
OMIM: gene MIM:300885 | disease phenotypes: MIM:300887, MIM:300853
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| linear skin defects with multiple congenital anomalies 2 | Definitive | X-linked |
| linear skin defects with multiple congenital anomalies | Supportive | X-linked |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| mitochondrial disease | Limited | XL |
Mondo (3): linear skin defects with multiple congenital anomalies 2 (MONDO:0010474), X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (MONDO:0010455), linear skin defects with multiple congenital anomalies (MONDO:0010672)
Orphanet (2): Microphthalmia with linear skin defects syndrome (Orphanet:2556), XMEN (Orphanet:317476)
HPO phenotypes
120 total (30 of 120 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000013 | Hypoplasia of the uterus |
| HP:0000035 | Abnormal testis morphology |
| HP:0000036 | Abnormal penis morphology |
| HP:0000037 | Male pseudohermaphroditism |
| HP:0000039 | Epispadias |
| HP:0000041 | Chordee |
| HP:0000047 | Hypospadias |
| HP:0000054 | Micropenis |
| HP:0000062 | Ambiguous genitalia |
| HP:0000175 | Cleft palate |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000278 | Retrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000331 | Short chin |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000348 | High forehead |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000363 | Abnormal earlobe morphology |
| HP:0000365 | Hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000445 | Wide nose |
| HP:0000492 | Abnormal eyelid morphology |
| HP:0000499 | Abnormal eyelash morphology |
| HP:0000501 | Glaucoma |
| HP:0000505 | Visual impairment |
| HP:0000518 | Cataract |
| HP:0000528 | Anophthalmia |
| HP:0000543 | Optic disc pallor |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C537466 | Microphthalmia, syndromic 7 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
65 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, affects cotreatment, increases abundance, increases oxidation, affects expression | 5 |
| Valproic Acid | affects cotreatment, increases expression, affects expression | 4 |
| Particulate Matter | decreases expression, increases abundance | 4 |
| Acetaminophen | decreases expression, increases expression, affects cotreatment | 3 |
| bisphenol A | decreases expression, affects expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Atrazine | decreases expression | 2 |
| Ozone | increases oxidation, increases abundance, affects expression, affects cotreatment | 2 |
| Zidovudine | decreases expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| bleomycetin | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| 1-methyl-4-phenyl-2,3-dihydropyridinium | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| CD 437 | decreases expression | 1 |
| chloropicrin | increases expression | 1 |
| OSW 1 | increases expression | 1 |
| corosolic acid | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02496676 | PHASE1/PHASE2 | COMPLETED | Magnesium Supplementation in People With XMEN Syndrome |
Related Atlas pages
- Associated diseases: linear skin defects with multiple congenital anomalies 2, linear skin defects with multiple congenital anomalies, mitochondrial disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): linear skin defects with multiple congenital anomalies, linear skin defects with multiple congenital anomalies 2, X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia