TOMM7
gene geneOn this page
Also known as Tom7
Summary
TOMM7 (translocase of outer mitochondrial membrane 7, HGNC:21648) is a protein-coding gene on chromosome 7p15.3, encoding Mitochondrial import receptor subunit TOM7 homolog (Q9P0U1). Component of the translocase of the outer membrane of mitochondria (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins.
This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex.
Source: NCBI Gene 54543 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Garg-Mishra progeroid syndrome (Moderate, GenCC)
- GWAS associations: 11
- Clinical variants (ClinVar): 23 total — 2 pathogenic
- Phenotypes (HPO): 30
- MANE Select transcript:
NM_019059
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21648 |
| Approved symbol | TOMM7 |
| Name | translocase of outer mitochondrial membrane 7 |
| Location | 7p15.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Tom7 |
| Ensembl gene | ENSG00000196683 |
| Ensembl biotype | protein_coding |
| OMIM | 607980 |
| Entrez | 54543 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000358435, ENST00000372879, ENST00000405021, ENST00000463284, ENST00000483581, ENST00000496129
RefSeq mRNA: 1 — MANE Select: NM_019059
NM_019059
CCDS: CCDS5376
Canonical transcript exons
ENST00000358435 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001410211 | 22818000 | 22818048 |
| ENSE00001864098 | 22822677 | 22822849 |
| ENSE00003638113 | 22812974 | 22813185 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 169.8676 / max 1507.4884, expressed in 1826 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 83092 | 136.8223 | 1825 |
| 83091 | 33.0453 | 1812 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.76 | gold quality |
| medial globus pallidus | UBERON:0002477 | 99.72 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 99.72 | gold quality |
| nucleus accumbens | UBERON:0001882 | 99.71 | gold quality |
| diaphragm | UBERON:0001103 | 99.68 | gold quality |
| left ovary | UBERON:0002119 | 99.68 | gold quality |
| pituitary gland | UBERON:0000007 | 99.67 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.67 | gold quality |
| amygdala | UBERON:0001876 | 99.66 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.65 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.65 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.65 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.65 | gold quality |
| granulocyte | CL:0000094 | 99.64 | gold quality |
| caudate nucleus | UBERON:0001873 | 99.64 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.64 | gold quality |
| muscle of leg | UBERON:0001383 | 99.63 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.63 | gold quality |
| cingulate cortex | UBERON:0003027 | 99.63 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 99.63 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 99.63 | gold quality |
| globus pallidus | UBERON:0001875 | 99.62 | gold quality |
| apex of heart | UBERON:0002098 | 99.62 | gold quality |
| tendon | UBERON:0000043 | 99.61 | gold quality |
| endocervix | UBERON:0000458 | 99.61 | gold quality |
| body of pancreas | UBERON:0001150 | 99.61 | gold quality |
| right ovary | UBERON:0002118 | 99.61 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 99.61 | gold quality |
| muscle organ | UBERON:0001630 | 99.60 | gold quality |
| right lung | UBERON:0002167 | 99.60 | gold quality |
Single-cell (SCXA)
Detected in 17 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 1502.96 |
| E-MTAB-6701 | yes | 101.20 |
| E-CURD-122 | yes | 81.39 |
| E-CURD-88 | yes | 55.24 |
| E-MTAB-9221 | yes | 53.30 |
| E-CURD-46 | yes | 37.54 |
| E-GEOD-135922 | yes | 28.59 |
| E-GEOD-84465 | yes | 24.37 |
| E-ANND-3 | yes | 16.15 |
| E-MTAB-10042 | yes | 10.51 |
| E-MTAB-10662 | no | 1515.61 |
| E-MTAB-10018 | no | 1331.31 |
| E-MTAB-8271 | no | 854.15 |
| E-HCAD-1 | no | 92.05 |
| E-HCAD-8 | no | 58.58 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
36 targeting TOMM7, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-2681-5P | 99.75 | 67.64 | 1655 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-548U | 99.65 | 67.78 | 1463 |
| HSA-MIR-6083 | 99.47 | 68.73 | 2393 |
| HSA-MIR-548V | 99.29 | 69.47 | 1157 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-6728-3P | 98.63 | 67.63 | 1534 |
| HSA-MIR-5581-3P | 98.55 | 70.31 | 1161 |
| HSA-MIR-3136-5P | 98.53 | 67.68 | 793 |
| HSA-MIR-4439 | 98.53 | 67.53 | 793 |
| HSA-MIR-4438 | 97.96 | 63.70 | 947 |
| HSA-MIR-4432 | 97.80 | 67.87 | 705 |
| HSA-MIR-630 | 97.50 | 66.38 | 921 |
| HSA-MIR-890 | 97.47 | 68.67 | 982 |
| HSA-MIR-6791-3P | 97.45 | 64.31 | 1123 |
| HSA-MIR-6829-3P | 97.45 | 64.31 | 1137 |
| HSA-MIR-134-5P | 97.11 | 66.52 | 976 |
| HSA-MIR-3118 | 97.11 | 66.58 | 984 |
| HSA-MIR-6836-3P | 97.08 | 64.99 | 712 |
| HSA-MIR-6857-3P | 96.70 | 65.43 | 915 |
Literature-anchored findings (GeneRIF, showing 4)
- Levels of Tom22 in mitochondria accelerate the rate of Tom7 assembly into the mature TOM complex. (PMID:12198123)
- The human counterparts of Tom5 and Tom6, together with the other components including Tom7, were identified in the preprotein translocase complex. (PMID:18331822)
- Mitochondrial membrane potential loss-dependent PINK1 import arrest does not result solely from Tim23 inactivation but also through an actively regulated “tug of war” between Tom7 and OMA1. (PMID:30733118)
- The receptor subunit Tom20 is dynamically associated with the TOM complex in mitochondria of human cells. (PMID:34347503)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tomm7 | ENSMUSG00000028998 |
| rattus_norvegicus | Tomm7 | ENSRNOG00000043114 |
Protein
Protein identifiers
Mitochondrial import receptor subunit TOM7 homolog — Q9P0U1 (reviewed: Q9P0U1)
Alternative names: Translocase of outer membrane 7 kDa subunit homolog
All UniProt accessions (4): A6NIV2, B5MD00, Q9P0U1, Q75MR5
UniProt curated annotations — full annotation on UniProt →
Function. Component of the translocase of the outer membrane of mitochondria (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. The TOM complex associates with the ion channel VDAC2 and PINK1 kinase at depolarized mitochondria, this interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy by the recruitment of the E3 ubiquitin ligase PRKN.
Subunit / interactions. Part of the translocase of the outer mitochondrial membrane (TOM complex) consisting of at least TOMM5, TOMM6, TOMM7, TOMM20, TOMM22 and TOMM40. TOMM70 may also be found in the TOM complex. The TOM complex interacts with the VDAC2 homodimer. Upon mitochondrial depolarization, the TOM-VDAC assembly interacts with PINK1; the interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy.
Subcellular location. Mitochondrion outer membrane.
Disease relevance. Garg-Mishra progeroid syndrome (GMPGS) [MIM:620601] An autosomal recessive syndrome characterized by a progeroid appearance, severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the Tom7 family.
RefSeq proteins (1): NP_061932* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012621 | Tom7 | Family |
Pfam: PF08038
UniProt features (10 total): topological domain 2, sequence variant 2, helix 2, chain 1, transmembrane region 1, sequence conflict 1, strand 1
Structure
Experimental structures (PDB)
12 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7VD2 | ELECTRON MICROSCOPY | 2.53 |
| 7VBY | ELECTRON MICROSCOPY | 2.54 |
| 9EII | ELECTRON MICROSCOPY | 2.75 |
| 9JXV | ELECTRON MICROSCOPY | 2.89 |
| 8XDN | ELECTRON MICROSCOPY | 2.93 |
| 7CP9 | ELECTRON MICROSCOPY | 3 |
| 9EIH | ELECTRON MICROSCOPY | 3.1 |
| 9EIJ | ELECTRON MICROSCOPY | 3.3 |
| 7CK6 | ELECTRON MICROSCOPY | 3.4 |
| 7VC4 | ELECTRON MICROSCOPY | 3.74 |
| 7VDD | ELECTRON MICROSCOPY | 3.74 |
| 8XVA | ELECTRON MICROSCOPY | 5.92 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P0U1-F1 | 93.03 | 0.87 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1268020 | Mitochondrial protein import |
| R-HSA-5205685 | PINK1-PRKN Mediated Mitophagy |
MSigDB gene sets: 250 (showing top):
GOBP_REGULATION_OF_AUTOPHAGY, TGCGCANK_UNKNOWN, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_MACROAUTOPHAGY, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION, GOBP_REGULATION_OF_PROTEIN_STABILITY, SCHLOSSER_SERUM_RESPONSE_DN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_PROTEIN_TRANSMEMBRANE_TRANSPORT
GO Biological Process (6): protein import into mitochondrial matrix (GO:0030150), regulation of protein stability (GO:0031647), protein insertion into mitochondrial outer membrane (GO:0045040), obsolete positive regulation of protein targeting to mitochondrion (GO:1903955), positive regulation of type 2 mitophagy (GO:1905091), protein transport (GO:0015031)
GO Molecular Function (2): transmembrane protein transporter activity (GO:0008320), protein binding (GO:0005515)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), mitochondrial outer membrane translocase complex (GO:0005742), TOM complex (GO:0140596), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Protein localization | 1 |
| Mitophagy | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein transmembrane import into intracellular organelle | 1 |
| protein localization to mitochondrion | 1 |
| import into the mitochondrion | 1 |
| mitochondrial protein import pathway | 1 |
| regulation of biological quality | 1 |
| outer mitochondrial membrane organization | 1 |
| protein insertion into mitochondrial membrane | 1 |
| type 2 mitophagy | 1 |
| positive regulation of mitophagy | 1 |
| regulation of type 2 mitophagy | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| macromolecule transmembrane transporter activity | 1 |
| protein transmembrane transport | 1 |
| protein transporter activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| outer mitochondrial membrane protein complex | 1 |
| mitochondrial outer membrane translocase complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1668 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TOMM7 | TOMM22 | Q9NS69 | 999 |
| TOMM7 | TOMM6 | Q96B49 | 998 |
| TOMM7 | TOMM70 | O94826 | 997 |
| TOMM7 | TOMM40 | O96008 | 997 |
| TOMM7 | TOMM5 | Q8N4H5 | 997 |
| TOMM7 | TOMM20 | Q15388 | 996 |
| TOMM7 | SAMM50 | Q9Y512 | 745 |
| TOMM7 | TIMM17A | Q99595 | 724 |
| TOMM7 | TIMM9 | Q9Y5J7 | 724 |
| TOMM7 | TIMM10 | P62072 | 719 |
| TOMM7 | TIMM21 | Q9BVV7 | 716 |
| TOMM7 | TIMM44 | O43615 | 715 |
| TOMM7 | TIMM50 | Q3ZCQ8 | 715 |
| TOMM7 | PINK1 | Q9BXM7 | 639 |
| TOMM7 | TIMM13 | P62206 | 637 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TOMM22 | TOMM40 | psi-mi:“MI:0915”(physical association) | 0.740 |
| TOMM7 | TOMM20 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TOMM7 | TOMM22 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TOMM22 | TOMM7 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TOMM7 | Tomm22 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TOMM7 | Tomm40 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TOMM7 | TOMM40 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SHLD3 | psi-mi:“MI:0914”(association) | 0.350 | |
| RYBP | FAM186A | psi-mi:“MI:0914”(association) | 0.350 |
| TOMM20 | TIMM44 | psi-mi:“MI:0914”(association) | 0.350 |
| TOMM6 | TOMM40 | psi-mi:“MI:0914”(association) | 0.350 |
| TOMM7 | AMY2A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (31): TOMM7 (Two-hybrid), TOMM7 (Proximity Label-MS), TOMM7 (Proximity Label-MS), TOMM7 (Affinity Capture-MS), TOMM7 (Affinity Capture-MS), AMY2A (Affinity Capture-MS), TOMM40L (Affinity Capture-MS), TOMM7 (Affinity Capture-MS), TPP2 (Cross-Linking-MS (XL-MS)), TOMM7 (Cross-Linking-MS (XL-MS)), TOMM7 (Cross-Linking-MS (XL-MS)), TOMM7 (Cross-Linking-MS (XL-MS)), TOMM7 (Cross-Linking-MS (XL-MS)), TOMM7 (Affinity Capture-MS), TOMM7 (Co-fractionation)
ESM2 similar proteins: A1XQS2, D3Z9R8, E2R4X3, E9PQ53, O14548, O60397, O82067, P14790, P34660, P46269, P46270, P56378, P56379, Q02827, Q1RMH3, Q29259, Q2KI08, Q3SZ13, Q3T061, Q3ZBI7, Q4V8S3, Q56JY4, Q5R987, Q5RDZ8, Q5XFV8, Q5ZML6, Q61387, Q63ZZ0, Q69YU5, Q78IK2, Q7SXI1, Q8BH51, Q8BTC1, Q8C1Q6, Q8N0X7, Q96B49, Q96I36, Q96IX5, Q96KF7, Q99KD6
Diamond homologs: A1XQS2, P34660, Q2KI08, Q9D173, Q9P0U1, O42999
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TOMM7 | “form complex” | “TOM40 complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 8 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2628316 | NM_019059.5(TOMM7):c.86C>T (p.Pro29Leu) | Pathogenic |
| 3809502 | NM_019059.5(TOMM7):c.26_29del (p.Lys9fs) | Pathogenic |
SpliceAI
448 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:22813195:T:TC | acceptor_gain | 1.0000 |
| 7:22818056:A:T | acceptor_gain | 1.0000 |
| 7:22822641:C:A | donor_gain | 1.0000 |
| 7:22822655:T:A | donor_gain | 1.0000 |
| 7:22822726:C:CA | donor_gain | 1.0000 |
| 7:22813195:T:C | acceptor_gain | 0.9900 |
| 7:22818055:C:CT | acceptor_gain | 0.9900 |
| 7:22822640:T:TA | donor_gain | 0.9900 |
| 7:22822719:A:AC | donor_gain | 0.9900 |
| 7:22822720:C:CC | donor_gain | 0.9900 |
| 7:22822770:G:C | donor_gain | 0.9900 |
| 7:22813186:C:CC | acceptor_gain | 0.9800 |
| 7:22813197:G:C | acceptor_gain | 0.9800 |
| 7:22822727:C:A | donor_gain | 0.9800 |
| 7:22813191:A:AC | acceptor_gain | 0.9700 |
| 7:22813191:A:C | acceptor_gain | 0.9700 |
| 7:22822675:AC:A | donor_gain | 0.9700 |
| 7:22822676:CC:C | donor_gain | 0.9700 |
| 7:22822685:A:C | donor_gain | 0.9700 |
| 7:22813181:GTAGG:G | acceptor_gain | 0.9600 |
| 7:22813182:TAGG:T | acceptor_gain | 0.9600 |
| 7:22813184:GG:G | acceptor_gain | 0.9600 |
| 7:22813194:T:C | acceptor_gain | 0.9600 |
| 7:22813197:G:GC | acceptor_gain | 0.9600 |
| 7:22818045:AATCC:A | acceptor_loss | 0.9600 |
| 7:22818048:CCTGA:C | acceptor_loss | 0.9600 |
| 7:22818049:C:A | acceptor_loss | 0.9600 |
| 7:22818050:T:C | acceptor_loss | 0.9600 |
| 7:22822627:TCCGC:T | donor_gain | 0.9600 |
| 7:22822628:CCGCC:C | donor_gain | 0.9600 |
AlphaMissense
353 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:22822704:C:G | G26R | 0.995 |
| 7:22822707:A:G | W25R | 0.994 |
| 7:22822707:A:T | W25R | 0.994 |
| 7:22822715:G:T | A22D | 0.994 |
| 7:22822677:C:G | G35R | 0.991 |
| 7:22822677:C:T | G35R | 0.991 |
| 7:22818048:C:T | G35E | 0.990 |
| 7:22822703:C:T | G26D | 0.990 |
| 7:22822700:A:G | F27S | 0.989 |
| 7:22822699:A:C | F27L | 0.987 |
| 7:22822699:A:T | F27L | 0.987 |
| 7:22822701:A:G | F27L | 0.987 |
| 7:22822694:G:C | P29R | 0.986 |
| 7:22822694:G:T | P29H | 0.985 |
| 7:22822723:G:C | S19R | 0.984 |
| 7:22822723:G:T | S19R | 0.984 |
| 7:22822725:T:G | S19R | 0.984 |
| 7:22818045:A:G | F36S | 0.976 |
| 7:22822753:C:A | K9N | 0.976 |
| 7:22822753:C:G | K9N | 0.976 |
| 7:22822679:A:G | L34P | 0.974 |
| 7:22813175:C:G | G55R | 0.973 |
| 7:22813175:C:T | G55R | 0.973 |
| 7:22822695:G:A | P29S | 0.971 |
| 7:22822745:A:G | L12P | 0.971 |
| 7:22813180:A:T | L53H | 0.969 |
| 7:22822683:A:C | Y33D | 0.968 |
| 7:22822685:A:T | I32N | 0.968 |
| 7:22822697:A:T | I28N | 0.967 |
| 7:22818006:A:T | V49D | 0.966 |
dbSNP variants (sampled 300 via entrez): RS1000007337 (7:22813669 T>C), RS1000033766 (7:22818146 G>A,C,T), RS1000059989 (7:22813263 A>C), RS1000145124 (7:22823949 C>A), RS1000322421 (7:22823439 T>G), RS1000438390 (7:22823686 G>A), RS1000516642 (7:22824253 C>A), RS1001058061 (7:22819408 G>A), RS1001487029 (7:22818664 T>C,G), RS1001534710 (7:22824770 C>G,T), RS1001610101 (7:22824329 A>C,G), RS1001855623 (7:22818983 A>G), RS1002062431 (7:22815823 TAAAAAA>T,TAAAAA,TAAAAAAA,TAAAAAAAA), RS1002170844 (7:22821285 C>A,G), RS1002381369 (7:22814095 G>A)
Disease associations
OMIM: gene MIM:607980 | disease phenotypes: MIM:620601
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Garg-Mishra progeroid syndrome | Moderate | Autosomal recessive |
Mondo (1): Garg-Mishra progeroid syndrome (MONDO:0957953)
Orphanet (0):
HPO phenotypes
30 total (30 of 30 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000325 | Triangular face |
| HP:0000337 | Broad forehead |
| HP:0000347 | Micrognathia |
| HP:0000414 | Bulbous nose |
| HP:0000426 | Prominent nasal bridge |
| HP:0000568 | Microphthalmia |
| HP:0000639 | Nystagmus |
| HP:0000678 | Dental crowding |
| HP:0000774 | Narrow chest |
| HP:0000883 | Thin ribs |
| HP:0000926 | Platyspondyly |
| HP:0000957 | Cafe-au-lait spot |
| HP:0001169 | Broad palm |
| HP:0001252 | Hypotonia |
| HP:0001414 | Microvesicular hepatic steatosis |
| HP:0001792 | Small nail |
| HP:0002673 | Coxa valga |
| HP:0003100 | Slender long bone |
| HP:0003300 | Ovoid vertebral bodies |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0004474 | Persistent open anterior fontanelle |
| HP:0005484 | Secondary microcephaly |
| HP:0006236 | Slender metacarpals |
| HP:0007663 | Reduced visual acuity |
| HP:0008070 | Sparse hair |
| HP:0008499 | High hypermetropia |
| HP:0008897 | Postnatal growth retardation |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration |
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002147_24 | Fibrinogen | 7.000000e-09 |
| GCST003194_20 | Fibrinogen levels | 5.000000e-09 |
| GCST004121_30 | Fibrinogen levels | 3.000000e-08 |
| GCST004122_4 | Fibrinogen levels | 3.000000e-07 |
| GCST007798_82 | Asthma | 3.000000e-06 |
| GCST007800_90 | Asthma (childhood onset) | 3.000000e-08 |
| GCST007994_18 | Asthma (age of onset) | 8.000000e-06 |
| GCST007995_51 | Asthma (childhood onset) | 5.000000e-10 |
| GCST009391_1109 | Metabolite levels | 6.000000e-06 |
| GCST009798_59 | Asthma | 3.000000e-10 |
| GCST90014325_33 | Asthma | 2.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010448 | 3-hydroxyphenylacetic acid measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 2 |
| sodium arsenite | decreases expression, decreases methylation, increases expression | 2 |
| Valproic Acid | affects cotreatment, increases expression | 2 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance | 2 |
| dicrotophos | decreases expression | 1 |
| beauvericin | affects cotreatment, decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| isobutyl alcohol | decreases expression, increases abundance, affects cotreatment | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CD 437 | decreases expression | 1 |
| chloropicrin | increases expression | 1 |
| enniatins | affects cotreatment, decreases expression | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| Arsenic Trioxide | affects cotreatment, decreases expression | 1 |
| Ethanol | decreases expression, increases abundance, affects cotreatment | 1 |
| Ascorbic Acid | decreases expression, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Polycyclic Aromatic Hydrocarbons | decreases expression, increases abundance, affects cotreatment | 1 |
| Rotenone | increases expression | 1 |
| Selenium | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3JU | Abcam HEK293T TOMM7 KO | Transformed cell line | Female |
| CVCL_TT26 | HAP1 TOMM7 (-) 1 | Cancer cell line | Male |
| CVCL_TT27 | HAP1 TOMM7 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: Garg-Mishra progeroid syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Garg-Mishra progeroid syndrome