SMAP1
geneOn this page
Also known as FLJ13159SMAP-1
Summary
SMAP1 (small ArfGAP 1, HGNC:19651) is a protein-coding gene on chromosome 6q13, encoding Stromal membrane-associated protein 1 (Q8IYB5). GTPase activating protein that acts on ARF6.
The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 60682 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 30 total — 1 pathogenic
- MANE Select transcript:
NM_001044305
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19651 |
| Approved symbol | SMAP1 |
| Name | small ArfGAP 1 |
| Location | 6q13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13159, SMAP-1 |
| Ensembl gene | ENSG00000112305 |
| Ensembl biotype | protein_coding |
| OMIM | 611372 |
| Entrez | 60682 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 18 protein_coding
ENST00000316999, ENST00000370452, ENST00000370455, ENST00000439432, ENST00000445046, ENST00000619054, ENST00000894939, ENST00000894940, ENST00000894941, ENST00000894942, ENST00000939436, ENST00000939437, ENST00000960745, ENST00000960746, ENST00000960747, ENST00000960748, ENST00000960749, ENST00000960750
RefSeq mRNA: 4 — MANE Select: NM_001044305
NM_001044305, NM_001281439, NM_001281440, NM_021940
CCDS: CCDS43478, CCDS4973, CCDS64459, CCDS75478
Canonical transcript exons
ENST00000370455 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000810375 | 70773350 | 70773425 |
| ENSE00001945773 | 70860200 | 70862003 |
| ENSE00002228382 | 70798657 | 70798737 |
| ENSE00002233840 | 70856859 | 70857030 |
| ENSE00002280036 | 70836941 | 70837028 |
| ENSE00002305102 | 70852540 | 70852664 |
| ENSE00002310177 | 70857922 | 70858229 |
| ENSE00002473371 | 70754980 | 70755065 |
| ENSE00002502737 | 70732378 | 70732511 |
| ENSE00003789586 | 70791689 | 70791769 |
| ENSE00003894004 | 70667883 | 70668141 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 97.03.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.5648 / max 157.9496, expressed in 1812 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 68478 | 19.7879 | 1805 |
| 68476 | 7.1794 | 1736 |
| 68479 | 2.0413 | 1187 |
| 68477 | 1.1681 | 807 |
| 68480 | 0.2274 | 100 |
| 68475 | 0.1607 | 76 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 97.03 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.38 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.98 | gold quality |
| colonic mucosa | UBERON:0000317 | 94.94 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.63 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 94.45 | gold quality |
| oral cavity | UBERON:0000167 | 94.17 | gold quality |
| pons | UBERON:0000988 | 93.88 | gold quality |
| jejunum | UBERON:0002115 | 93.28 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 92.89 | gold quality |
| duodenum | UBERON:0002114 | 92.85 | gold quality |
| squamous epithelium | UBERON:0006914 | 92.55 | gold quality |
| skin of hip | UBERON:0001554 | 92.44 | gold quality |
| upper leg skin | UBERON:0004262 | 92.44 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.01 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.87 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 91.75 | gold quality |
| superior surface of tongue | UBERON:0007371 | 91.72 | gold quality |
| sural nerve | UBERON:0015488 | 91.54 | gold quality |
| rectum | UBERON:0001052 | 91.28 | gold quality |
| penis | UBERON:0000989 | 91.17 | gold quality |
| ileal mucosa | UBERON:0000331 | 90.95 | gold quality |
| left testis | UBERON:0004533 | 90.86 | gold quality |
| heart right ventricle | UBERON:0002080 | 90.81 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.79 | gold quality |
| gingiva | UBERON:0001828 | 90.51 | gold quality |
| sperm | CL:0000019 | 90.48 | gold quality |
| muscle of leg | UBERON:0001383 | 90.45 | gold quality |
| pancreas | UBERON:0001264 | 90.43 | gold quality |
| testis | UBERON:0000473 | 90.39 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.72 |
| E-MTAB-6386 | no | 220.66 |
| E-CURD-112 | no | 2.42 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): SMAD5
miRNA regulators (miRDB)
128 targeting SMAP1, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
Literature-anchored findings (GeneRIF, showing 5)
- SMAP1 may be an ADP-ribosylation factor 6 (Arf6)GAP that specifically regulates one of the multiple functions of Arf6, namely, clathrin-dependent endocytosis (PMID:15659652)
- SMAP1 loss-of-function mutations in microsatellite instability colorectal cancer may contribute to the emerging oncogenic pathway involving abnormal Arf6 regulation. (PMID:23752192)
- Results also demonstrated a physical association between SMAP1 and SMAP2, which might serve as a basis for a functional interaction, and identified the intramolecular domains responsible for this association (PMID:25281535)
- The study identified a region on chromosome 6 comprising the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus for pediatric venous thromboembolism. (PMID:28011674)
- Pals1 functions in redundancy with SMAP1 to inhibit Arf6 in order to prevent Rac1-dependent colorectal cancer cell migration and invasion. (PMID:36494580)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | smap1 | ENSDARG00000031302 |
| mus_musculus | Smap1 | ENSMUSG00000026155 |
| rattus_norvegicus | Smap1 | ENSRNOG00000049127 |
Paralogs (28): ARAP2 (ENSG00000047365), ACAP1 (ENSG00000072818), SMAP2 (ENSG00000084070), ASAP3 (ENSG00000088280), ARFGAP1 (ENSG00000101199), ADAP1 (ENSG00000105963), AGFG2 (ENSG00000106351), GIT1 (ENSG00000108262), ACAP2 (ENSG00000114331), ARAP3 (ENSG00000120318), ACAP3 (ENSG00000131584), AGAP3 (ENSG00000133612), AGAP2 (ENSG00000135439), APPL2 (ENSG00000136044), GIT2 (ENSG00000139436), ARFGAP2 (ENSG00000149182), ASAP2 (ENSG00000151693), ASAP1 (ENSG00000153317), APPL1 (ENSG00000157500), AGAP1 (ENSG00000157985), AGAP5 (ENSG00000172650), AGFG1 (ENSG00000173744), ADAP2 (ENSG00000184060), ARAP1 (ENSG00000186635), AGAP4 (ENSG00000188234), AGAP6 (ENSG00000204149), AGAP9 (ENSG00000204172), ARFGAP3 (ENSG00000242247)
Protein
Protein identifiers
Stromal membrane-associated protein 1 — Q8IYB5 (reviewed: Q8IYB5)
All UniProt accessions (4): A0A087X1X9, Q8IYB5, H0Y5G0, Q5T6I8
UniProt curated annotations — full annotation on UniProt →
Function. GTPase activating protein that acts on ARF6. Plays a role in clathrin-dependent endocytosis. May play a role in erythropoiesis.
Subunit / interactions. Interacts with ARF6. Interacts with clathrin heavy chains via the clathrin box-like motif.
Subcellular location. Cell membrane.
Tissue specificity. Detected in bone marrow, adrenal gland, trachea, lymph node, spinal cord, peripheral blood leukocytes, thyroid and stomach.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IYB5-1 | 1, SMAP1A | yes |
| Q8IYB5-2 | 2, SMAP1B | |
| Q8IYB5-3 | 3 |
RefSeq proteins (4): NP_001037770, NP_001268368, NP_001268369, NP_068759 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001164 | ArfGAP_dom | Domain |
| IPR037278 | ARFGAP/RecO | Homologous_superfamily |
| IPR038508 | ArfGAP_dom_sf | Homologous_superfamily |
| IPR044732 | ArfGAP_SMAP1-like | Domain |
| IPR051718 | ARF_GTPase-activating | Family |
Pfam: PF01412
UniProt features (29 total): helix 8, compositionally biased region 5, turn 3, strand 3, splice variant 2, region of interest 2, chain 1, domain 1, sequence variant 1, sequence conflict 1, zinc finger region 1, short sequence motif 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2CRR | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IYB5-F1 | 62.06 | 0.30 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 190 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_ERYTHROCYTE_DIFFERENTIATION, GOBP_MYELOID_CELL_HOMEOSTASIS, ATACCTC_MIR202, GOBP_ERYTHROCYTE_HOMEOSTASIS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_HEMOPOIESIS, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, ACATTCC_MIR1_MIR206, GOBP_POSITIVE_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_ERYTHROCYTE_DIFFERENTIATION
GO Biological Process (2): positive regulation of erythrocyte differentiation (GO:0045648), regulation of clathrin-dependent endocytosis (GO:2000369)
GO Molecular Function (5): GTPase activator activity (GO:0005096), zinc ion binding (GO:0008270), clathrin binding (GO:0030276), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| erythrocyte differentiation | 1 |
| positive regulation of myeloid cell differentiation | 1 |
| regulation of erythrocyte differentiation | 1 |
| regulation of receptor-mediated endocytosis | 1 |
| clathrin-dependent endocytosis | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
736 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SMAP1 | MAP1B | P46821 | 671 |
| SMAP1 | ARF6 | P26438 | 644 |
| SMAP1 | CLTC | Q00610 | 563 |
| SMAP1 | DENND5B | Q6ZUT9 | 521 |
| SMAP1 | LGSN | Q5TDP6 | 507 |
| SMAP1 | CLSTN1 | O94985 | 498 |
| SMAP1 | RASA1 | P20936 | 481 |
| SMAP1 | LYG1 | Q8N1E2 | 478 |
| SMAP1 | TBCD | Q9BTW9 | 473 |
| SMAP1 | TFRC | P02786 | 470 |
| SMAP1 | RBP2 | P50120 | 449 |
| SMAP1 | ZSWIM3 | Q96MP5 | 447 |
| SMAP1 | IFT70A | Q86WT1 | 434 |
| SMAP1 | EPM2AIP1 | Q7L775 | 419 |
| SMAP1 | OR4Q3 | Q8NH05 | 410 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CNOT3 | CNOT1 | psi-mi:“MI:0914”(association) | 0.740 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF829 | TRIM28 | psi-mi:“MI:0914”(association) | 0.530 |
| GPS1 | PXDNL | psi-mi:“MI:0914”(association) | 0.530 |
| HSPA2 | DNAJC13 | psi-mi:“MI:0914”(association) | 0.530 |
| OIP5 | CYTH3 | psi-mi:“MI:0914”(association) | 0.530 |
| ENG | SMAP1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SMAP1 | NPW | psi-mi:“MI:0915”(physical association) | 0.400 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC16A11 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| hspa1a_hspa1b_human-1 | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| MICU2 | ACOX3 | psi-mi:“MI:0914”(association) | 0.350 |
| B3GALT2 | LIG1 | psi-mi:“MI:0914”(association) | 0.350 |
| DDX28 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA8 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| MMP14 | BIN1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL49 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | SF3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| ALK | NUDT19 | psi-mi:“MI:2364”(proximity) | 0.270 |
| EGFR | FAM171A2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FGFR1 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| FGFR4 | SH3PXD2B | psi-mi:“MI:2364”(proximity) | 0.270 |
| ROR2 | SH3PXD2B | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (76): SMAP1 (Affinity Capture-MS), HSPA1L (Affinity Capture-MS), KLHL18 (Affinity Capture-MS), SMAP1 (Affinity Capture-MS), SMAP1 (Affinity Capture-MS), KLHL18 (Affinity Capture-MS), SMAP1 (Affinity Capture-MS), SMAP1 (Affinity Capture-MS), SMAP1 (Affinity Capture-MS), SMAP1 (Affinity Capture-MS), SMAP1 (Affinity Capture-MS), SMAP1 (Affinity Capture-MS), SMAP1 (Affinity Capture-MS), ARF6 (Biochemical Activity), CLTC (Reconstituted Complex)
ESM2 similar proteins: A0JMZ1, A1L209, A1L2F3, A1L3I5, A2AWT3, A4FUE7, A6QQM4, O82171, O94519, P97868, Q08AZ1, Q14CW9, Q1W1G1, Q22122, Q2HJG4, Q2YDJ0, Q32KN7, Q5EAW4, Q5PPV5, Q5REC0, Q5TFG8, Q5ZMS6, Q618K0, Q62920, Q64GL0, Q66HC1, Q6DGN6, Q6NRP6, Q6P1U3, Q6V5K9, Q7SXT7, Q7Z6E9, Q801E2, Q8BJH1, Q8CI51, Q8H100, Q8IMP6, Q8IYB5, Q8R550, Q91W18
Diamond homologs: A1L520, A1Z7A6, A5PK26, A6NIR3, O43150, O74345, O75689, O80925, O82171, O94601, O97902, P35197, P38682, P40529, P52594, Q04412, Q09531, Q0WQQ1, Q10165, Q10367, Q14161, Q15027, Q15057, Q17R07, Q1AAU6, Q1ZXH8, Q28CM8, Q2TA45, Q3MID3, Q3UHD9, Q4KLH5, Q4KLN7, Q4LDD4, Q4R4C9, Q5F413, Q5FVC7, Q5R787, Q5RAT7, Q5U464, Q5VTM2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4278487 | NM_001044305.3(SMAP1):c.577-1G>T | Pathogenic |
SpliceAI
3985 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:70670053:G:GT | donor_gain | 1.0000 |
| 6:70732357:T:TA | acceptor_gain | 1.0000 |
| 6:70732371:A:AG | acceptor_gain | 1.0000 |
| 6:70732375:TAG:T | acceptor_loss | 1.0000 |
| 6:70732376:A:AT | acceptor_loss | 1.0000 |
| 6:70732377:G:A | acceptor_loss | 1.0000 |
| 6:70732507:TACAG:T | donor_loss | 1.0000 |
| 6:70732508:ACAG:A | donor_loss | 1.0000 |
| 6:70732509:CAG:C | donor_loss | 1.0000 |
| 6:70732510:AGG:A | donor_loss | 1.0000 |
| 6:70732511:GGTAA:G | donor_loss | 1.0000 |
| 6:70732512:G:T | donor_loss | 1.0000 |
| 6:70732513:T:G | donor_loss | 1.0000 |
| 6:70754975:TATA:T | acceptor_loss | 1.0000 |
| 6:70754977:TAGT:T | acceptor_loss | 1.0000 |
| 6:70754978:A:AG | acceptor_gain | 1.0000 |
| 6:70754978:AGT:A | acceptor_gain | 1.0000 |
| 6:70754978:AGTG:A | acceptor_loss | 1.0000 |
| 6:70754979:G:GT | acceptor_gain | 1.0000 |
| 6:70754979:GT:G | acceptor_gain | 1.0000 |
| 6:70754979:GTG:G | acceptor_gain | 1.0000 |
| 6:70754979:GTGC:G | acceptor_gain | 1.0000 |
| 6:70754979:GTGCA:G | acceptor_gain | 1.0000 |
| 6:70755061:GATCA:G | donor_gain | 1.0000 |
| 6:70755062:A:G | donor_gain | 1.0000 |
| 6:70755066:G:GG | donor_gain | 1.0000 |
| 6:70830704:G:GT | donor_gain | 1.0000 |
| 6:70836938:A:G | acceptor_gain | 1.0000 |
| 6:70836939:A:AT | acceptor_loss | 1.0000 |
| 6:70836939:A:G | acceptor_gain | 1.0000 |
AlphaMissense
3066 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:70668085:T:A | L21Q | 1.000 |
| 6:70668085:T:C | L21P | 1.000 |
| 6:70668094:T:C | L24P | 1.000 |
| 6:70668097:T:C | L25P | 1.000 |
| 6:70668113:C:A | N30K | 1.000 |
| 6:70668113:C:G | N30K | 1.000 |
| 6:70668120:T:A | C33S | 1.000 |
| 6:70668120:T:C | C33R | 1.000 |
| 6:70668120:T:G | C33G | 1.000 |
| 6:70668121:G:A | C33Y | 1.000 |
| 6:70668121:G:C | C33S | 1.000 |
| 6:70668121:G:T | C33F | 1.000 |
| 6:70668122:C:G | C33W | 1.000 |
| 6:70668124:C:A | A34D | 1.000 |
| 6:70668126:G:C | D35H | 1.000 |
| 6:70668126:G:T | D35Y | 1.000 |
| 6:70668129:T:A | C36S | 1.000 |
| 6:70668129:T:C | C36R | 1.000 |
| 6:70668130:G:A | C36Y | 1.000 |
| 6:70668130:G:C | C36S | 1.000 |
| 6:70668130:G:T | C36F | 1.000 |
| 6:70668131:C:G | C36W | 1.000 |
| 6:70668135:G:C | A38P | 1.000 |
| 6:70732380:C:T | P41S | 1.000 |
| 6:70732381:C:A | P41H | 1.000 |
| 6:70732381:C:G | P41R | 1.000 |
| 6:70732384:G:C | R42P | 1.000 |
| 6:70732386:T:A | W43R | 1.000 |
| 6:70732386:T:C | W43R | 1.000 |
| 6:70732386:T:G | W43G | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000004784 (6:70722014 T>C), RS1000015608 (6:70787051 A>G), RS1000021285 (6:70754876 TAATA>T), RS1000024910 (6:70778394 T>C), RS1000025287 (6:70819231 T>G), RS1000039322 (6:70674195 C>T), RS1000042444 (6:70744017 T>A), RS1000047296 (6:70851004 G>A,T), RS1000054277 (6:70734399 G>T), RS1000070890 (6:70728141 A>G), RS1000074824 (6:70765671 G>A), RS1000107162 (6:70686662 A>G), RS1000109817 (6:70667966 C>A,T), RS1000150335 (6:70674244 C>A), RS1000156781 (6:70825876 C>T)
Disease associations
OMIM: gene MIM:611372 | disease phenotypes: MIM:617391
GenCC curated gene-disease
Mondo (1): developmental and epileptic encephalopathy, 54 (MONDO:0033363)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003518_15 | Daytime sleep phenotypes | 4.000000e-06 |
| GCST009193_5 | Pars opercularis volume | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007828 | daytime rest measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 3 |
| cobaltous chloride | increases expression | 2 |
| Valproic Acid | affects expression, decreases expression, increases methylation | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| chloroacetaldehyde | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| uranyl acetate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| adefovir dipivoxil | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Cidofovir | decreases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Ethanol | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Carcinogens | decreases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Clodronic Acid | increases expression | 1 |
| Dieldrin | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Mutagens | decreases expression | 1 |
| Oxygen | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): developmental and epileptic encephalopathy, 54