KIFC2
gene geneOn this page
Summary
KIFC2 (kinesin family member C2, HGNC:29530) is a protein-coding gene on chromosome 8q24.3, encoding Kinesin-like protein KIFC2 (Q96AC6). May play a role in microtubule-dependent retrograde axonal transport.
Predicted to enable ATP hydrolysis activity; microtubule binding activity; and plus-end-directed microtubule motor activity. Predicted to be involved in anterograde dendritic transport of neurotransmitter receptor complex; axon guidance; and synaptic vesicle transport. Predicted to be located in cytoskeleton and dendrite cytoplasm. Predicted to be part of kinesin complex. Predicted to be active in cytoplasm and microtubule.
Source: NCBI Gene 90990 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 208 total
- MANE Select transcript:
NM_001369769
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29530 |
| Approved symbol | KIFC2 |
| Name | kinesin family member C2 |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000167702 |
| Ensembl biotype | protein_coding |
| OMIM | 615216 |
| Entrez | 90990 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 11 protein_coding, 5 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000301332, ENST00000529644, ENST00000529864, ENST00000531423, ENST00000531425, ENST00000533114, ENST00000642354, ENST00000643461, ENST00000645548, ENST00000880940, ENST00000880941, ENST00000880942, ENST00000880943, ENST00000880944, ENST00000880945, ENST00000966083, ENST00000966084
RefSeq mRNA: 2 — MANE Select: NM_001369769
NM_001369769, NM_145754
CCDS: CCDS6427, CCDS94366
Canonical transcript exons
ENST00000645548 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001115793 | 144469271 | 144469379 |
| ENSE00001115796 | 144469490 | 144469647 |
| ENSE00001115800 | 144468725 | 144468834 |
| ENSE00001115801 | 144468536 | 144468650 |
| ENSE00001115805 | 144472577 | 144472706 |
| ENSE00001251526 | 144468329 | 144468406 |
| ENSE00002226253 | 144466760 | 144466838 |
| ENSE00002256032 | 144466959 | 144467110 |
| ENSE00002296341 | 144467485 | 144467630 |
| ENSE00002312083 | 144467203 | 144467341 |
| ENSE00003474523 | 144467859 | 144467987 |
| ENSE00003548143 | 144471942 | 144472046 |
| ENSE00003599365 | 144472138 | 144472259 |
| ENSE00003607089 | 144472361 | 144472484 |
| ENSE00003676300 | 144467714 | 144467779 |
| ENSE00003818084 | 144466337 | 144466518 |
| ENSE00003827557 | 144472795 | 144473051 |
| ENSE00003827940 | 144473132 | 144474202 |
Expression profiles
Bgee: expression breadth ubiquitous, 225 present calls, max score 99.28.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.5988 / max 84.4849, expressed in 1346 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 91510 | 2.2183 | 1065 |
| 91511 | 1.8557 | 643 |
| 91513 | 0.5248 | 267 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 99.28 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.17 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.15 | gold quality |
| cerebellum | UBERON:0002037 | 98.79 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.60 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.87 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.80 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.77 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.66 | gold quality |
| putamen | UBERON:0001874 | 97.60 | gold quality |
| cerebellar vermis | UBERON:0004720 | 97.34 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.06 | gold quality |
| amygdala | UBERON:0001876 | 97.04 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.03 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.73 | gold quality |
| skin of leg | UBERON:0001511 | 96.59 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.53 | gold quality |
| frontal cortex | UBERON:0001870 | 96.51 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.50 | gold quality |
| neocortex | UBERON:0001950 | 96.30 | gold quality |
| upper arm skin | UBERON:0004263 | 95.80 | gold quality |
| forebrain | UBERON:0001890 | 95.64 | gold quality |
| cerebral cortex | UBERON:0000956 | 95.63 | gold quality |
| brain | UBERON:0000955 | 95.57 | gold quality |
| temporal lobe | UBERON:0001871 | 95.46 | gold quality |
| parietal lobe | UBERON:0001872 | 95.09 | gold quality |
| zone of skin | UBERON:0000014 | 94.76 | gold quality |
| occipital lobe | UBERON:0002021 | 94.76 | gold quality |
| postcentral gyrus | UBERON:0002581 | 94.75 | gold quality |
| Ammon’s horn | UBERON:0001954 | 94.71 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-36552 | no | 91.12 |
| E-ANND-3 | no | 2.04 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
37 targeting KIFC2, 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-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-6871-3P | 99.43 | 68.85 | 741 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-6760-5P | 98.87 | 66.73 | 1515 |
| HSA-MIR-330-5P | 98.73 | 67.63 | 1788 |
| HSA-MIR-3161 | 98.71 | 67.14 | 816 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
Literature-anchored findings (GeneRIF, showing 3)
- expression level of KIF2C mRNA could be a potential independent marker to evaluate patient prognosis (PMID:22130050)
- The kinesin-14 family motor protein KIFC2 promotes prostate cancer progression by regulating p65. (PMID:37716704)
- Kinesin superfamily member KIFC2 as an independent prognostic biomarker of colon adenocarcinoma associated with poor immune response. (PMID:37904433)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch211-257p13.3 | ENSDARG00000053431 |
| mus_musculus | Kifc2 | ENSMUSG00000004187 |
| rattus_norvegicus | Kifc2 | ENSRNOG00000060123 |
| caenorhabditis_elegans | WBGENE00002216 |
Paralogs (41): KIF1B (ENSG00000054523), KIF26A (ENSG00000066735), KIF2A (ENSG00000068796), KIF22 (ENSG00000079616), KIF3C (ENSG00000084731), KIF9 (ENSG00000088727), KIF16B (ENSG00000089177), KIF4A (ENSG00000090889), KIF3B (ENSG00000101350), KIF20A (ENSG00000112984), KIF21B (ENSG00000116852), KIF17 (ENSG00000117245), KIF14 (ENSG00000118193), KIF18A (ENSG00000121621), KIF25 (ENSG00000125337), KIF1C (ENSG00000129250), KIF1A (ENSG00000130294), KIF3A (ENSG00000131437), KIF12 (ENSG00000136883), KIF13A (ENSG00000137177), KIF23 (ENSG00000137807), KIF11 (ENSG00000138160), CENPE (ENSG00000138778), KIF21A (ENSG00000139116), KIFC3 (ENSG00000140859), KIF2B (ENSG00000141200), KIF2C (ENSG00000142945), KIF5A (ENSG00000155980), KIF26B (ENSG00000162849), KIF15 (ENSG00000163808), KIF6 (ENSG00000164627), KIF27 (ENSG00000165115), KIF7 (ENSG00000166813), KIF5C (ENSG00000168280), KIF5B (ENSG00000170759), KIF18B (ENSG00000186185), KIF24 (ENSG00000186638), KIF19 (ENSG00000196169), KIF13B (ENSG00000197892), KIF4B (ENSG00000226650)
Protein
Protein identifiers
Kinesin-like protein KIFC2 — Q96AC6 (reviewed: Q96AC6)
All UniProt accessions (3): A0A2R8Y870, A0A2R8YEU8, Q96AC6
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in microtubule-dependent retrograde axonal transport. May function as the motor for the transport of multivesicular body (MVB)-like organelles in dendrites.
Subcellular location. Cytoplasm. Cytoskeleton.
Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96AC6-1 | 1 | yes |
| Q96AC6-2 | 2 |
RefSeq proteins (2): NP_001356698, NP_665697 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001752 | Kinesin_motor_dom | Domain |
| IPR019821 | Kinesin_motor_CS | Conserved_site |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR027640 | Kinesin-like_fam | Family |
| IPR036961 | Kinesin_motor_dom_sf | Homologous_superfamily |
Pfam: PF00225
UniProt features (14 total): splice variant 3, region of interest 3, sequence variant 2, compositionally biased region 2, chain 1, domain 1, coiled-coil region 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96AC6-F1 | 63.85 | 0.16 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 484–491
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| R-HSA-983189 | Kinesins |
| R-HSA-109582 | Hemostasis |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| R-HSA-8856688 | Golgi-to-ER retrograde transport |
| R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
MSigDB gene sets: 130 (showing top):
GOBP_SYNAPTIC_VESICLE_LOCALIZATION, GOBP_AXO_DENDRITIC_TRANSPORT, TGCGCANK_UNKNOWN, GOBP_VESICLE_LOCALIZATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOCC_KINESIN_COMPLEX, JOHANSSON_GLIOMAGENESIS_BY_PDGFB_DN, GOBP_NEUROGENESIS, REACTOME_MEMBRANE_TRAFFICKING, RODRIGUES_NTN1_TARGETS_DN, CAGCAGG_MIR370, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, LIAO_METASTASIS, GOCC_NEURON_PROJECTION
GO Biological Process (4): axon guidance (GO:0007411), synaptic vesicle transport (GO:0048489), anterograde dendritic transport of neurotransmitter receptor complex (GO:0098971), microtubule-based movement (GO:0007018)
GO Molecular Function (7): ATP binding (GO:0005524), microtubule binding (GO:0008017), plus-end-directed microtubule motor activity (GO:0008574), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), microtubule motor activity (GO:0003777)
GO Cellular Component (5): cytoplasm (GO:0005737), kinesin complex (GO:0005871), microtubule (GO:0005874), dendrite cytoplasm (GO:0032839), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Golgi-to-ER retrograde transport | 1 |
| Factors involved in megakaryocyte development and platelet production | 1 |
| Vesicle-mediated transport | 1 |
| Membrane Trafficking | 1 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
| Hemostasis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ATP-dependent activity | 2 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| transport | 1 |
| cellular process | 1 |
| establishment of vesicle localization | 1 |
| synaptic vesicle localization | 1 |
| receptor localization to synapse | 1 |
| anterograde dendritic transport | 1 |
| microtubule-based process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| tubulin binding | 1 |
| microtubule motor activity | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| molecular_function | 1 |
| cytoskeletal motor activity | 1 |
| polypeptide conformation or assembly isomerase activity | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| microtubule associated complex | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| dendrite | 1 |
| neuron projection cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
2308 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KIFC2 | TMEM276 | P0DTL5 | 477 |
| KIFC2 | TBC1D7 | Q9P0N9 | 475 |
| KIFC2 | LRRC24 | Q50LG9 | 405 |
| KIFC2 | PPP1R16A | Q96I34 | 397 |
| KIFC2 | LRRC14 | Q15048 | 390 |
| KIFC2 | SLC33A2 | Q96ES6 | 389 |
| KIFC2 | DCTN2 | Q13561 | 386 |
| KIFC2 | ZCCHC9 | Q8N567 | 369 |
| KIFC2 | DYNLL1 | P63167 | 366 |
| KIFC2 | TONSL | Q96HA7 | 364 |
| KIFC2 | OR1L4 | Q8NGR5 | 352 |
| KIFC2 | KIFAP3 | Q92845 | 344 |
| KIFC2 | ARHGAP39 | Q9C0H5 | 335 |
| KIFC2 | SLC39A4 | Q6P5W5 | 317 |
| KIFC2 | TMEM267 | Q0VDI3 | 317 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KIFC2 | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ABL1 | KIFC2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KIFC2 | NCK1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KIFC2 | TEAD3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KIFC2 | TAB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KIFC2 | MAPK8IP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNLS | STATH | psi-mi:“MI:0914”(association) | 0.350 |
| CUL4B | GGTLC3 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| GET4 | KIFC2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (10): KIFC2 (Affinity Capture-MS), KIFC2 (Affinity Capture-RNA), KIFC2 (Affinity Capture-MS), KIFC2 (Cross-Linking-MS (XL-MS)), MIS18BP1 (Cross-Linking-MS (XL-MS)), MGA (Cross-Linking-MS (XL-MS)), KIFC2 (Affinity Capture-RNA), KIFC2 (Two-hybrid), KIFC2 (Two-hybrid), TEAD3 (Two-hybrid)
ESM2 similar proteins: A2APT9, A5PJC7, A5PKB7, D7PDD4, O08672, O94761, O94989, P33076, P51617, P79621, Q16671, Q2LGB3, Q3T0Y9, Q496M5, Q49LS3, Q53GL7, Q5FVN6, Q5FWH6, Q5R866, Q5R8H1, Q5RA67, Q5VTJ3, Q60837, Q6P9H5, Q6UX68, Q75NR7, Q7Z6P3, Q86UT6, Q8BTN6, Q8BWA8, Q8BWF2, Q8CIE4, Q8IUD6, Q8IW93, Q8IYJ3, Q8K349, Q8K3L6, Q8K558, Q8NAG6, Q8R2S1
Diamond homologs: A2ZRG4, A3BFT0, A8BB91, A8BKD1, B2GU58, B3H6Z8, B7EJ91, B9EUM5, B9F7C8, B9FAF3, B9FL70, B9FTR1, B9G2X9, B9G8P1, F1QN54, F4HZF0, F4I1T9, F4IAR2, F4IBQ9, F4IIS5, F4IJK6, F4IL57, F4J2M6, F4JGP4, F4JX00, F4K4C5, O08672, O15066, O23826, O35231, O43093, O81635, O95239, P17119, P20480, P23678, P28025, P28739, P28741, P33174
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
208 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 174 |
| Likely benign | 17 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2882 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:144466949:T:TA | acceptor_gain | 1.0000 |
| 8:144466953:C:CA | acceptor_gain | 1.0000 |
| 8:144467481:CCAG:C | acceptor_loss | 1.0000 |
| 8:144467482:CAG:C | acceptor_loss | 1.0000 |
| 8:144467483:A:AG | acceptor_gain | 1.0000 |
| 8:144467484:G:GG | acceptor_gain | 1.0000 |
| 8:144467484:G:GT | acceptor_loss | 1.0000 |
| 8:144467627:ACAGG:A | donor_loss | 1.0000 |
| 8:144467628:CAG:C | donor_loss | 1.0000 |
| 8:144467629:AGGTG:A | donor_loss | 1.0000 |
| 8:144467630:GGT:G | donor_loss | 1.0000 |
| 8:144467631:GT:G | donor_loss | 1.0000 |
| 8:144467632:T:G | donor_loss | 1.0000 |
| 8:144467711:CAGC:C | acceptor_loss | 1.0000 |
| 8:144467712:A:AG | acceptor_gain | 1.0000 |
| 8:144467713:G:GG | acceptor_gain | 1.0000 |
| 8:144467713:GCT:G | acceptor_gain | 1.0000 |
| 8:144468404:CAG:C | donor_loss | 1.0000 |
| 8:144468405:AGGT:A | donor_loss | 1.0000 |
| 8:144468406:GGTG:G | donor_loss | 1.0000 |
| 8:144468407:GTG:G | donor_loss | 1.0000 |
| 8:144468408:T:G | donor_loss | 1.0000 |
| 8:144469378:GG:G | donor_gain | 1.0000 |
| 8:144469379:GG:G | donor_gain | 1.0000 |
| 8:144469642:G:GT | donor_gain | 1.0000 |
| 8:144469706:A:T | donor_gain | 1.0000 |
| 8:144471937:CGCA:C | acceptor_loss | 1.0000 |
| 8:144471940:A:AG | acceptor_gain | 1.0000 |
| 8:144471940:A:C | acceptor_loss | 1.0000 |
| 8:144471941:G:GA | acceptor_loss | 1.0000 |
AlphaMissense
4973 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:144472038:A:C | S493R | 0.994 |
| 8:144472040:C:A | S493R | 0.994 |
| 8:144472040:C:G | S493R | 0.994 |
| 8:144471945:T:C | F462L | 0.990 |
| 8:144471947:C:A | F462L | 0.990 |
| 8:144471947:C:G | F462L | 0.990 |
| 8:144472012:G:T | G484V | 0.987 |
| 8:144472977:T:C | F682L | 0.986 |
| 8:144472979:C:A | F682L | 0.986 |
| 8:144472979:C:G | F682L | 0.986 |
| 8:144466429:T:C | F4L | 0.985 |
| 8:144466431:T:A | F4L | 0.985 |
| 8:144466431:T:G | F4L | 0.985 |
| 8:144472012:G:A | G484D | 0.985 |
| 8:144472256:T:A | V535D | 0.983 |
| 8:144472648:T:A | H601Q | 0.982 |
| 8:144472648:T:G | H601Q | 0.982 |
| 8:144472138:G:C | G496R | 0.981 |
| 8:144471998:C:G | C479W | 0.980 |
| 8:144472027:G:T | G489V | 0.978 |
| 8:144472160:T:A | I503K | 0.978 |
| 8:144467914:T:C | L246P | 0.977 |
| 8:144472241:T:C | I530T | 0.977 |
| 8:144472634:A:C | S597R | 0.977 |
| 8:144472636:C:A | S597R | 0.977 |
| 8:144472636:C:G | S597R | 0.977 |
| 8:144467893:T:C | L239P | 0.976 |
| 8:144472157:G:A | G502D | 0.976 |
| 8:144472171:G:C | A507P | 0.976 |
| 8:144472364:C:A | D537E | 0.976 |
dbSNP variants (sampled 300 via entrez): RS1000092735 (8:144473419 T>C), RS1000272113 (8:144473606 G>A,T), RS1000393001 (8:144466237 G>A), RS1000445546 (8:144465614 G>C), RS1000578739 (8:144469451 G>A,C,T), RS1000703202 (8:144466271 T>A), RS1000883045 (8:144472490 G>A,T), RS1001022940 (8:144468944 C>A,T), RS1001798926 (8:144465821 G>A), RS1001921388 (8:144469248 T>C), RS1001995800 (8:144474479 G>T), RS1002603854 (8:144471981 C>A,T), RS1003338137 (8:144471229 C>T), RS1003516001 (8:144471279 A>C), RS1003610744 (8:144471096 T>C)
Disease associations
OMIM: gene MIM:615216 | disease phenotypes: MIM:613563, MIM:236100
GenCC curated gene-disease
Mondo (2): CBL-related disorder (MONDO:0013308), holoprosencephaly (MONDO:0016296)
Orphanet (2): Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972), Holoprosencephaly (Orphanet:2162)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002598_30 | Educational attainment | 9.000000e-06 |
| GCST006879_12 | Blood metabolite levels | 4.000000e-10 |
| GCST006879_13 | Blood metabolite levels | 2.000000e-09 |
| GCST006879_14 | Blood metabolite levels | 2.000000e-11 |
| GCST006879_5 | Blood metabolite levels | 2.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004784 | self reported educational attainment |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D016142 | Holoprosencephaly | C05.660.207.410; C10.500.034.875; C16.131.077.410; C16.131.260.380; C16.131.621.207.410; C16.131.666.034.875; C16.320.180.380 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects cotreatment, increases expression, affects expression | 8 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | decreases methylation, decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| Am 580 | decreases expression | 1 |
| entinostat | increases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Magnetite Nanoparticles | decreases methylation, increases expression | 1 |
Clinical trials (associated diseases)
5 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05849662 | PHASE1/PHASE2 | RECRUITING | A Phase I/II Study of Trametinib and Azacitidine for Patients With Newly Diagnosed Juvenile Myelomonocytic Leukemia |
| NCT00005016 | Not specified | COMPLETED | Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly |
| NCT00088426 | Not specified | COMPLETED | Clinical and Genetic Studies on Holoprosencephaly |
| NCT00645645 | Not specified | COMPLETED | A Study of the Genetic Analysis of Brain Disorders |
| NCT04691414 | Not specified | COMPLETED | Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects. |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): CBL-related disorder, holoprosencephaly