TMEM63C
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Also known as DKFZp434P0111CSC1hsCSC1
Summary
TMEM63C (transmembrane protein 63C, HGNC:23787) is a protein-coding gene on chromosome 14q24.3, encoding Osmosensitive cation channel TMEM63C (Q9P1W3). Acts as an osmosensitive cation channel preferentially activated upon hypotonic stress.
Enables calcium-activated cation channel activity. Involved in monoatomic cation transport. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in plasma membrane. Implicated in hereditary spastic paraplegia 87. Biomarker of focal segmental glomerulosclerosis.
Source: NCBI Gene 57156 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spastic paraplegia 87, autosomal recessive (Strong, GenCC)
- GWAS associations: 4
- Clinical variants (ClinVar): 118 total — 4 pathogenic
- Phenotypes (HPO): 18
- MANE Select transcript:
NM_020431
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23787 |
| Approved symbol | TMEM63C |
| Name | transmembrane protein 63C |
| Location | 14q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp434P0111, CSC1, hsCSC1 |
| Ensembl gene | ENSG00000165548 |
| Ensembl biotype | protein_coding |
| OMIM | 619953 |
| Entrez | 57156 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 12 protein_coding, 2 retained_intron
ENST00000298351, ENST00000554346, ENST00000554766, ENST00000555338, ENST00000555588, ENST00000556514, ENST00000557408, ENST00000557504, ENST00000890513, ENST00000890514, ENST00000890515, ENST00000890516, ENST00000890517, ENST00000957931
RefSeq mRNA: 1 — MANE Select: NM_020431
NM_020431
CCDS: CCDS45141
Canonical transcript exons
ENST00000298351 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001094004 | 77238694 | 77238767 |
| ENSE00001094010 | 77249291 | 77249458 |
| ENSE00001094015 | 77246609 | 77246674 |
| ENSE00001094018 | 77248767 | 77248872 |
| ENSE00001094019 | 77225424 | 77225461 |
| ENSE00001094024 | 77245940 | 77246026 |
| ENSE00001094025 | 77244349 | 77244455 |
| ENSE00001094026 | 77242347 | 77242469 |
| ENSE00001094027 | 77239603 | 77239726 |
| ENSE00001094028 | 77236624 | 77236732 |
| ENSE00001094029 | 77240475 | 77240608 |
| ENSE00001094030 | 77248347 | 77248509 |
| ENSE00001094034 | 77242903 | 77243056 |
| ENSE00001094035 | 77239412 | 77239492 |
| ENSE00001094037 | 77233452 | 77233500 |
| ENSE00001094039 | 77251789 | 77251898 |
| ENSE00001158680 | 77256526 | 77259495 |
| ENSE00001421702 | 77213446 | 77213508 |
| ENSE00002525404 | 77181798 | 77181894 |
| ENSE00003612103 | 77220006 | 77220087 |
| ENSE00003638414 | 77253305 | 77253376 |
| ENSE00003645562 | 77219498 | 77219577 |
| ENSE00003785084 | 77218801 | 77218963 |
| ENSE00003790788 | 77231588 | 77231730 |
Expression profiles
Bgee: expression breadth ubiquitous, 186 present calls, max score 94.14.
FANTOM5 (CAGE): breadth broad, TPM avg 1.7467 / max 294.7520, expressed in 454 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 140767 | 0.7671 | 312 |
| 140768 | 0.2339 | 119 |
| 140766 | 0.2095 | 113 |
| 140769 | 0.1335 | 73 |
| 140761 | 0.1290 | 5 |
| 140762 | 0.0785 | 4 |
| 140758 | 0.0760 | 6 |
| 140759 | 0.0608 | 6 |
| 140760 | 0.0473 | 4 |
| 140764 | 0.0111 | 3 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar cortex | UBERON:0002129 | 94.14 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.11 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.96 | gold quality |
| cerebellum | UBERON:0002037 | 93.69 | gold quality |
| cerebellar vermis | UBERON:0004720 | 92.00 | gold quality |
| pituitary gland | UBERON:0000007 | 91.46 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.23 | gold quality |
| islet of Langerhans | UBERON:0000006 | 88.36 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 86.18 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 85.01 | gold quality |
| pancreatic ductal cell | CL:0002079 | 84.56 | silver quality |
| hypothalamus | UBERON:0001898 | 84.52 | gold quality |
| cortical plate | UBERON:0005343 | 84.24 | gold quality |
| right frontal lobe | UBERON:0002810 | 84.18 | gold quality |
| prefrontal cortex | UBERON:0000451 | 83.91 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 83.80 | gold quality |
| frontal cortex | UBERON:0001870 | 83.02 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 82.33 | silver quality |
| lateral globus pallidus | UBERON:0002476 | 82.13 | silver quality |
| superior vestibular nucleus | UBERON:0007227 | 82.00 | gold quality |
| neocortex | UBERON:0001950 | 81.96 | gold quality |
| brain | UBERON:0000955 | 81.79 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 81.60 | gold quality |
| ventral tegmental area | UBERON:0002691 | 81.41 | silver quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 80.83 | gold quality |
| nucleus accumbens | UBERON:0001882 | 80.77 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 80.41 | silver quality |
| forebrain | UBERON:0001890 | 80.38 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.35 | gold quality |
| endothelial cell | CL:0000115 | 80.08 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.35 |
| E-CURD-10 | no | 0.67 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
112 targeting TMEM63C, 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-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
Literature-anchored findings (GeneRIF, showing 3)
- Tmem63c is a potential pro-survival factor in angiotensin II-treated human podocytes. (PMID:32750436)
- TMEM63C, a Potential Novel Target for Albuminuria Development, Is Regulated by MicroRNA-564 and Transforming Growth Factor beta in Human Renal Cells. (PMID:33080601)
- TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. (PMID:35718349)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem63c | ENSDARG00000004158 |
| mus_musculus | Tmem63c | ENSMUSG00000034145 |
| rattus_norvegicus | Tmem63c | ENSRNOG00000011334 |
Paralogs (2): TMEM63B (ENSG00000137216), TMEM63A (ENSG00000196187)
Protein
Protein identifiers
Osmosensitive cation channel TMEM63C — Q9P1W3 (reviewed: Q9P1W3)
Alternative names: Calcium permeable stress-gated cation channel 1, Transmembrane protein 63C
All UniProt accessions (6): Q9P1W3, G3V2V1, G3V3H0, G3V3S4, G3V3S9, G3V4J5
UniProt curated annotations — full annotation on UniProt →
Function. Acts as an osmosensitive cation channel preferentially activated upon hypotonic stress. In contrast to TMEM63B, does not show phospholipid scramblase activity. Enriched in mitochondria-ER contact sites where it may regulate the metabolite flux and organelles’ morphologies in response to osmotic changes. In particular may regulate mitochondrial motility and function in motor neuron axons. Required for the functional integrity of the kidney glomerular filtration barrier.
Subunit / interactions. Monomer.
Subcellular location. Endoplasmic reticulum membrane. Cell membrane.
Tissue specificity. Expressed in podocytes of kidney glomeruli. Significantly reduced expression in patients with focal segmental glomerulosclerosis.
Disease relevance. Spastic paraplegia 87, autosomal recessive (SPG87) [MIM:619966] A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG87 is characterized by onset of lower limb spasticity in infancy or early childhood, and lack of upper limbs and bulbar regions involvement. Affected individuals have mildly delayed walking, spastic gait, and hyperreflexia. Some patients may also have mild intellectual disability or speech problems. The disease is caused by variants affecting the gene represented in this entry.
Activity regulation. Activated by hyperosmotic shock after mannitol treatment.
Similarity. Belongs to the CSC1 (TC 1.A.17) family.
RefSeq proteins (1): NP_065164* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003864 | CSC1/OSCA1-like_7TM | Domain |
| IPR027815 | CSC1/OSCA1-like_cyt | Domain |
| IPR032880 | CSC1/OSCA1-like_N | Domain |
| IPR045122 | Csc1-like | Family |
Pfam: PF02714, PF13967, PF14703
Catalyzed reactions (Rhea), 1 shown:
- Ca(2+)(in) = Ca(2+)(out) (RHEA:29671)
UniProt features (31 total): topological domain 12, transmembrane region 11, modified residue 2, sequence variant 2, sequence conflict 2, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P1W3-F1 | 74.76 | 0.31 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 77, 80
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 110 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_UP, GOCC_VACUOLAR_MEMBRANE, GOBP_MONOATOMIC_CATION_TRANSPORT, GTGCCTT_MIR506, chr14q24, GOBP_RENAL_FILTRATION, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_RENAL_SYSTEM_PROCESS, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_LIPID_TRANSPORTER_ACTIVITY, GOMF_GATED_CHANNEL_ACTIVITY, GOMF_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_MONOATOMIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY
GO Biological Process (5): glomerular filtration (GO:0003094), monoatomic cation transport (GO:0006812), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), monoatomic cation transmembrane transport (GO:0098655)
GO Molecular Function (2): calcium-activated cation channel activity (GO:0005227), osmolarity-sensing monoatomic cation channel activity (GO:1990760)
GO Cellular Component (5): lysosomal membrane (GO:0005765), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| monoatomic ion transport | 2 |
| renal filtration | 1 |
| transport | 1 |
| transmembrane transport | 1 |
| monoatomic cation transport | 1 |
| monoatomic ion transmembrane transport | 1 |
| monoatomic ion-gated channel activity | 1 |
| ligand-gated monoatomic cation channel activity | 1 |
| osmosensor activity | 1 |
| monoatomic cation channel activity | 1 |
| gated channel activity | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
446 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM63C | INCENP | Q9NQS7 | 955 |
| TMEM63C | KCNJ6 | P48051 | 844 |
| TMEM63C | AURKB | Q96GD4 | 796 |
| TMEM63C | STRIP1 | Q5VSL9 | 547 |
| TMEM63C | OTULINL | Q9NUU6 | 521 |
| TMEM63C | EFS | O43281 | 520 |
| TMEM63C | CCDC106 | Q9BWC9 | 495 |
| TMEM63C | STRN | O43815 | 480 |
| TMEM63C | SNX15 | Q9NRS6 | 463 |
| TMEM63C | VWA5A | O00534 | 459 |
| TMEM63C | RNF150 | Q9ULK6 | 457 |
| TMEM63C | TMEM234 | Q8WY98 | 453 |
| TMEM63C | PPP2R1A | P30153 | 444 |
| TMEM63C | TMEM120A | Q9BXJ8 | 444 |
| TMEM63C | CDCA8 | Q53HL2 | 434 |
| TMEM63C | RNPC3 | Q96LT9 | 434 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NPPA | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM63C | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (41): TMEM63C (Affinity Capture-RNA), TMEM63C (Proximity Label-MS), TMEM199 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), RNFT1 (Affinity Capture-MS), PIGH (Affinity Capture-MS), OSBP (Affinity Capture-MS), RAB10 (Affinity Capture-MS), FAM63A (Affinity Capture-MS), TMEM63A (Affinity Capture-MS), TMEM63B (Affinity Capture-MS), PLD1 (Affinity Capture-MS), GPR89A (Affinity Capture-MS), SLC30A6 (Affinity Capture-MS), C4orf32 (Affinity Capture-MS)
ESM2 similar proteins: A0A452G813, A0A8V0ZB02, A1L3G9, A2AWR3, A9LIW2, B6HTR9, D3ZNF5, F4I248, F4JCY2, O35379, O57428, O94886, O94911, P08983, Q059Y8, Q06538, Q09427, Q09428, Q09429, Q17JQ7, Q3KTM2, Q3TWI9, Q4R7U0, Q4V8U5, Q5GH22, Q5GH60, Q5GH68, Q5R826, Q5R9A7, Q5T3F8, Q5YCC5, Q6NP91, Q6PP77, Q6UR05, Q7Q5R7, Q7Z3F1, Q7Z402, Q8C428, Q8CBX0, Q8CG09
Diamond homologs: A0A452G813, A0A8V0ZB02, D3ZNF5, O94886, Q3TWI9, Q5R826, Q5T3F8, Q6NP91, Q8CBX0, Q91YT8, Q9P1W3, X1WEM4, Q9SZT4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
118 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 0 |
| Uncertain significance | 92 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1698436 | NM_020431.4(TMEM63C):c.1641_1656delinsGGC (p.Asn547fs) | Pathogenic |
| 1698437 | NM_020431.4(TMEM63C):c.1216del (p.Trp406fs) | Pathogenic |
| 1698438 | NM_020431.4(TMEM63C):c.585C>G (p.Tyr195Ter) | Pathogenic |
| 1698439 | NM_020431.4(TMEM63C):c.1572dup (p.Tyr525fs) | Pathogenic |
SpliceAI
6003 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:77141598:CTCA:C | donor_loss | 1.0000 |
| 14:77141599:TCA:T | donor_loss | 1.0000 |
| 14:77141600:CAC:C | donor_loss | 1.0000 |
| 14:77141601:A:AC | donor_gain | 1.0000 |
| 14:77141602:C:CC | donor_gain | 1.0000 |
| 14:77141602:C:CT | donor_loss | 1.0000 |
| 14:77141602:CCGAG:C | donor_gain | 1.0000 |
| 14:77219978:A:AG | acceptor_gain | 1.0000 |
| 14:77219979:C:G | acceptor_gain | 1.0000 |
| 14:77219985:T:TA | acceptor_gain | 1.0000 |
| 14:77219996:T:A | acceptor_gain | 1.0000 |
| 14:77219997:G:A | acceptor_gain | 1.0000 |
| 14:77220000:T:A | acceptor_gain | 1.0000 |
| 14:77220002:GCA:G | acceptor_loss | 1.0000 |
| 14:77220002:GCAGC:G | acceptor_loss | 1.0000 |
| 14:77220003:CAGCC:C | acceptor_loss | 1.0000 |
| 14:77220004:A:AC | acceptor_loss | 1.0000 |
| 14:77220004:A:AG | acceptor_gain | 1.0000 |
| 14:77220004:AGCCT:A | acceptor_gain | 1.0000 |
| 14:77220005:G:GT | acceptor_gain | 1.0000 |
| 14:77220005:GC:G | acceptor_gain | 1.0000 |
| 14:77220005:GCC:G | acceptor_gain | 1.0000 |
| 14:77220005:GCCT:G | acceptor_gain | 1.0000 |
| 14:77220005:GCCTG:G | acceptor_gain | 1.0000 |
| 14:77220085:AAGG:A | donor_loss | 1.0000 |
| 14:77220085:AAGGT:A | donor_loss | 1.0000 |
| 14:77220086:AGG:A | donor_loss | 1.0000 |
| 14:77220086:AGGTG:A | donor_loss | 1.0000 |
| 14:77220087:GGT:G | donor_loss | 1.0000 |
| 14:77220087:GGTG:G | donor_loss | 1.0000 |
AlphaMissense
5363 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:77240578:T:A | V345D | 0.999 |
| 14:77248842:A:C | S614R | 0.999 |
| 14:77248844:C:A | S614R | 0.999 |
| 14:77248844:C:G | S614R | 0.999 |
| 14:77249327:G:C | R636P | 0.999 |
| 14:77239603:G:C | R269S | 0.998 |
| 14:77239603:G:T | R269S | 0.998 |
| 14:77239623:G:C | R276P | 0.998 |
| 14:77242429:T:A | W383R | 0.998 |
| 14:77242429:T:C | W383R | 0.998 |
| 14:77242468:T:A | W396R | 0.998 |
| 14:77242468:T:C | W396R | 0.998 |
| 14:77242903:G:C | W396C | 0.998 |
| 14:77242903:G:T | W396C | 0.998 |
| 14:77240515:T:C | L324P | 0.997 |
| 14:77248355:T:G | F537C | 0.997 |
| 14:77248872:G:A | G624R | 0.997 |
| 14:77248872:G:C | G624R | 0.997 |
| 14:77248872:G:T | G624W | 0.997 |
| 14:77249291:G:A | G624E | 0.997 |
| 14:77233467:T:G | F170C | 0.996 |
| 14:77238707:T:C | L222P | 0.996 |
| 14:77239454:C:G | C256W | 0.996 |
| 14:77239471:T:C | L262P | 0.996 |
| 14:77239492:G:C | R269T | 0.996 |
| 14:77240575:T:C | F344S | 0.996 |
| 14:77248354:T:C | F537L | 0.996 |
| 14:77248356:C:A | F537L | 0.996 |
| 14:77248356:C:G | F537L | 0.996 |
| 14:77248824:A:C | S608R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000007630 (14:77227635 C>T), RS1000062954 (14:77181258 G>T), RS1000075375 (14:77186749 G>C), RS1000185666 (14:77210515 A>G), RS1000188495 (14:77215763 A>C,G), RS1000199368 (14:77259927 T>C), RS1000239985 (14:77222024 G>A), RS1000249727 (14:77255362 G>A,C), RS1000281501 (14:77181460 G>A,T), RS1000389790 (14:77216357 A>C,T), RS1000407496 (14:77216036 C>T), RS1000442512 (14:77257634 C>T), RS1000494513 (14:77203259 G>A), RS1000538982 (14:77250515 C>T), RS1000539527 (14:77198602 A>G)
Disease associations
OMIM: gene MIM:619953 | disease phenotypes: MIM:619966
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spastic paraplegia 87, autosomal recessive | Strong | Autosomal recessive |
Mondo (1): spastic paraplegia 87, autosomal recessive (MONDO:0031019)
Orphanet (1): Autosomal recessive spastic paraplegia type 87 (Orphanet:631088)
HPO phenotypes
18 total (18 of 18 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000486 | Strabismus |
| HP:0000639 | Nystagmus |
| HP:0000750 | Delayed speech and language development |
| HP:0001256 | Mild intellectual disability |
| HP:0001260 | Dysarthria |
| HP:0001332 | Dystonia |
| HP:0001347 | Hyperreflexia |
| HP:0002061 | Lower limb spasticity |
| HP:0002064 | Spastic gait |
| HP:0002194 | Delayed gross motor development |
| HP:0002395 | Lower limb hyperreflexia |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0003487 | Babinski sign |
| HP:0003593 | Infantile onset |
| HP:0006986 | Upper limb spasticity |
| HP:0007350 | Upper limb hyperreflexia |
| HP:0011463 | Childhood onset |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003434_12 | Obsessive-compulsive symptoms | 9.000000e-06 |
| GCST004070_19 | Cerebrospinal P-tau181p levels | 4.000000e-06 |
| GCST008155_70 | Waist-hip ratio | 1.000000e-06 |
| GCST010572_6 | Sweet taste preference | 2.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007802 | obsessive-compulsive symptom measurement |
| EFO:0004763 | p-tau measurement |
| EFO:0004343 | waist-hip ratio |
| EFO:0010156 | sweet liking measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 4 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases methylation | 2 |
| Cadmium Chloride | decreases expression | 2 |
| aminomethylphosphonic acid (AMPA) | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| pentanal | increases expression | 1 |
| abrine | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Aldehydes | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Estradiol | increases expression | 1 |
| Niclosamide | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| 2,4-Dichlorophenoxyacetic Acid | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_YA84 | IDG-HEK293T-TMEM63C-V5-OE | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: spastic paraplegia 87, autosomal recessive
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): spastic paraplegia 87, autosomal recessive