SEC31B
gene geneOn this page
Also known as SEC31B-1DKFZP434M183
Summary
SEC31B (SEC31 homolog B, COPII component, HGNC:23197) is a protein-coding gene on chromosome 10q24.31, encoding Protein transport protein Sec31B (Q9NQW1). As a component of the coat protein complex II (COPII), may function in vesicle budding and cargo export from the endoplasmic reticulum.
This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site.
Source: NCBI Gene 25956 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 214 total
- MANE Select transcript:
NM_015490
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23197 |
| Approved symbol | SEC31B |
| Name | SEC31 homolog B, COPII component |
| Location | 10q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SEC31B-1, DKFZP434M183 |
| Ensembl gene | ENSG00000075826 |
| Ensembl biotype | protein_coding |
| OMIM | 610258 |
| Entrez | 25956 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 9 protein_coding, 5 nonsense_mediated_decay, 5 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000370345, ENST00000462434, ENST00000469546, ENST00000469824, ENST00000479697, ENST00000480905, ENST00000482456, ENST00000484848, ENST00000485800, ENST00000490567, ENST00000492667, ENST00000494350, ENST00000498298, ENST00000883193, ENST00000883194, ENST00000955332, ENST00000955333, ENST00000955334, ENST00000955335, ENST00000955336, ENST00000955337
RefSeq mRNA: 1 — MANE Select: NM_015490
NM_015490
CCDS: CCDS7495
Canonical transcript exons
ENST00000370345 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001818448 | 100519782 | 100519861 |
| ENSE00001822116 | 100486647 | 100487795 |
| ENSE00003461888 | 100516096 | 100516219 |
| ENSE00003468404 | 100498705 | 100498804 |
| ENSE00003473355 | 100497135 | 100497280 |
| ENSE00003475356 | 100497667 | 100497793 |
| ENSE00003484453 | 100499160 | 100499258 |
| ENSE00003486339 | 100490008 | 100490322 |
| ENSE00003495877 | 100490706 | 100490883 |
| ENSE00003497222 | 100509007 | 100509102 |
| ENSE00003503770 | 100509316 | 100509511 |
| ENSE00003515223 | 100488027 | 100488098 |
| ENSE00003530384 | 100495385 | 100495546 |
| ENSE00003539239 | 100489703 | 100489761 |
| ENSE00003554884 | 100498029 | 100498207 |
| ENSE00003565353 | 100507908 | 100508051 |
| ENSE00003582771 | 100506040 | 100506201 |
| ENSE00003594424 | 100488858 | 100488974 |
| ENSE00003618690 | 100489252 | 100489398 |
| ENSE00003625559 | 100499524 | 100499598 |
| ENSE00003648471 | 100507425 | 100507567 |
| ENSE00003658946 | 100506321 | 100506420 |
| ENSE00003664857 | 100502254 | 100502484 |
| ENSE00003671710 | 100505361 | 100505495 |
| ENSE00003680641 | 100496258 | 100496431 |
| ENSE00003680947 | 100516874 | 100516997 |
Expression profiles
Bgee: expression breadth ubiquitous, 191 present calls, max score 95.26.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4477 / max 23.9330, expressed in 177 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 111061 | 0.3011 | 138 |
| 111055 | 0.0586 | 20 |
| 111057 | 0.0576 | 21 |
| 111058 | 0.0172 | 14 |
| 111056 | 0.0131 | 7 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 95.26 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.54 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.34 | gold quality |
| cerebellum | UBERON:0002037 | 91.52 | gold quality |
| granulocyte | CL:0000094 | 91.25 | gold quality |
| apex of heart | UBERON:0002098 | 91.24 | gold quality |
| adenohypophysis | UBERON:0002196 | 90.58 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.27 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.14 | gold quality |
| pituitary gland | UBERON:0000007 | 89.53 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 88.37 | gold quality |
| transverse colon | UBERON:0001157 | 88.16 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 87.99 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 87.81 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.68 | gold quality |
| left testis | UBERON:0004533 | 87.67 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 87.61 | gold quality |
| lower esophagus | UBERON:0013473 | 87.59 | gold quality |
| tibial nerve | UBERON:0001323 | 87.57 | gold quality |
| right testis | UBERON:0004534 | 87.55 | gold quality |
| spleen | UBERON:0002106 | 87.22 | gold quality |
| right ovary | UBERON:0002118 | 86.75 | gold quality |
| type B pancreatic cell | CL:0000169 | 86.51 | gold quality |
| olfactory bulb | UBERON:0002264 | 86.08 | gold quality |
| left ovary | UBERON:0002119 | 86.01 | gold quality |
| sural nerve | UBERON:0015488 | 85.99 | gold quality |
| body of uterus | UBERON:0009853 | 85.96 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.84 | gold quality |
| right lobe of liver | UBERON:0001114 | 85.74 | gold quality |
| right uterine tube | UBERON:0001302 | 85.62 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 5.14 |
| E-GEOD-83139 | no | 3.06 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
76 targeting SEC31B, 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-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| 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-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
Literature-anchored findings (GeneRIF, showing 1)
- The SEC31B protein is an orthologue of Saccharomyces cerevisiae Sec31p, a component of the COPII vesicle coat that mediates vesicular traffic from the endoplasmic reticulum. (PMID:16495487)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sec31b | ENSDARG00000002916 |
| mus_musculus | Sec31b | ENSMUSG00000051984 |
| rattus_norvegicus | Sec31b | ENSRNOG00000025781 |
| drosophila_melanogaster | Sec31 | FBGN0033339 |
| caenorhabditis_elegans | WBGENE00011338 |
Paralogs (1): SEC31A (ENSG00000138674)
Protein
Protein identifiers
Protein transport protein Sec31B — Q9NQW1 (reviewed: Q9NQW1)
Alternative names: SEC31-like protein 2, SEC31-related protein B, SEC31B-1
All UniProt accessions (3): Q9NQW1, E9PKR7, F6TTE0
UniProt curated annotations — full annotation on UniProt →
Function. As a component of the coat protein complex II (COPII), may function in vesicle budding and cargo export from the endoplasmic reticulum.
Subunit / interactions. COPII is composed of at least 5 proteins: the SEC23/24 complex, the SEC13/31 complex and SAR1. SEC13 and SEC31 make a 2:2 tetramer that forms the edge element of the COPII outer coat. The tetramer self-assembles in multiple copies to form the complete polyhedral cage. Interacts (via WD 8) with SEC13. Interacts with SEC31A.
Subcellular location. Cytoplasm. Cytoplasmic vesicle. COPII-coated vesicle membrane. Endoplasmic reticulum membrane.
Tissue specificity. Ubiquitously expressed at low levels with specific expression in thymus and testis. Expressed in testis by Sertoli cells, Leydig cells and spermatogonia and in cerebellum more prominently by Purkinje and granular cells (at protein level).
Post-translational modifications. Monoubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex, leading to regulate the size of COPII coats.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the WD repeat SEC31 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NQW1-1 | 1, SEC31B-F | yes |
| Q9NQW1-2 | 2 | |
| Q9NQW1-3 | 3 | |
| Q9NQW1-4 | 4, SEC31B-t | |
| Q9NQW1-5 | 5 |
RefSeq proteins (1): NP_056305* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR040251 | SEC31-like | Family |
Pfam: PF00400
UniProt features (28 total): sequence variant 9, repeat 8, splice variant 7, chain 1, compositionally biased region 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NQW1-F1 | 70.08 | 0.22 |
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-204005 | COPII-mediated vesicle transport |
| R-HSA-199977 | ER to Golgi Anterograde Transport |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-446203 | Asparagine N-linked glycosylation |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-948021 | Transport to the Golgi and subsequent modification |
MSigDB gene sets: 152 (showing top):
GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, CCANNAGRKGGC_UNKNOWN, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, MYOD_01, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOCC_COATED_VESICLE, GOBP_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT
GO Biological Process (5): endoplasmic reticulum organization (GO:0007029), protein transport (GO:0015031), COPII-coated vesicle cargo loading (GO:0090110), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), vesicle-mediated transport (GO:0016192)
GO Molecular Function (2): structural molecule activity (GO:0005198), protein binding (GO:0005515)
GO Cellular Component (9): endoplasmic reticulum membrane (GO:0005789), vesicle coat (GO:0030120), COPII vesicle coat (GO:0030127), endoplasmic reticulum exit site (GO:0070971), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), ER to Golgi transport vesicle membrane (GO:0012507), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| ER to Golgi Anterograde Transport | 1 |
| Membrane Trafficking | 1 |
| Transport to the Golgi and subsequent modification | 1 |
| Vesicle-mediated transport | 1 |
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
| Asparagine N-linked glycosylation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| cellular anatomical structure | 3 |
| transport | 2 |
| intracellular transport | 2 |
| coated vesicle membrane | 2 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| vesicle cargo loading | 1 |
| COPII-coated vesicle budding | 1 |
| intercellular transport | 1 |
| Golgi vesicle transport | 1 |
| cellular process | 1 |
| molecular_function | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane coat | 1 |
| ER to Golgi transport vesicle membrane | 1 |
| vesicle coat | 1 |
| endoplasmic reticulum | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| COPII-coated ER to Golgi transport vesicle | 1 |
| transport vesicle membrane | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
948 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SEC31B | SEC13 | P55735 | 918 |
| SEC31B | SEC24B | O95487 | 743 |
| SEC31B | SEC24D | O94855 | 673 |
| SEC31B | SEC23B | Q15437 | 607 |
| SEC31B | SEC24A | O95486 | 585 |
| SEC31B | SEC16A | O15027 | 559 |
| SEC31B | SEC24C | P53992 | 523 |
| SEC31B | SAR1A | Q9NR31 | 494 |
| SEC31B | PREB | Q9HCU5 | 477 |
| SEC31B | SAR1B | Q9Y6B6 | 471 |
| SEC31B | SEC31A | O94979 | 455 |
| SEC31B | COPB1 | P53618 | 414 |
| SEC31B | COPB2 | P35606 | 414 |
| SEC31B | USO1 | O60763 | 401 |
| SEC31B | STPG4 | Q8N801 | 400 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YBX1 | HNRNPR | psi-mi:“MI:0915”(physical association) | 0.770 |
| SF3A2 | SEC31B | psi-mi:“MI:0915”(physical association) | 0.400 |
| DND1 | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| MYC | PDZD2 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF2A | psi-mi:“MI:0914”(association) | 0.350 | |
| SEC31B | TCP1 | psi-mi:“MI:0914”(association) | 0.350 |
| SNW1 | psi-mi:“MI:0914”(association) | 0.350 | |
| RUNX1 | SEC31B | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (37): SEC31B (Affinity Capture-MS), CCT7 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6A (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT4 (Affinity Capture-MS), TCP1 (Affinity Capture-MS), SEC31B (Co-fractionation), SEC31B (Affinity Capture-MS), CCT7 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), TCP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8QPS5, A0A571BF63, A0A8M9QN10, A1A535, A1A5P5, A2BID5, A4D1P6, A9JRI0, B2RYI0, D3YVL2, F1QNV4, P97874, Q05B30, Q0WV90, Q15291, Q1LUT1, Q1LXR6, Q27GK7, Q2HJE1, Q32PH0, Q3TZ89, Q3U0M1, Q3UMY5, Q4V9P9, Q5NBT9, Q5PQS3, Q5R5R2, Q5R6T6, Q5ZLL7, Q6AI08, Q6DTM3, Q6PA97, Q6TEN6, Q7TMQ7, Q7Z3E5, Q7ZVL2, Q84JM4, Q8BL99, Q8CFJ9, Q8N957
Diamond homologs: A1C6X5, A1DHK2, A2QBZ0, F4ICD9, O94979, Q0CYG9, Q0ULF5, Q2GVT8, Q2UF60, Q3TZ89, Q3UPL0, Q4P2B6, Q4X0M4, Q55CT5, Q5AZM3, Q5F3X8, Q5R4F4, Q5S580, Q7SYD5, Q873A1, Q8L611, Q9NQW1, Q9Z2Q1, A3GFK8, A4RD35, A5DB75, A5DTX3, O13637, Q1DX43, Q5AAU3, Q5RHI5, Q6BRR2, Q6C414, Q9R1K5, Q9SU78, Q9UM11, A6ZN74, B3LIS9, C7GV13, C8ZHH9
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SEC31B | “form complex” | “COPII vesicle” | binding |
| KLHL12 | “up-regulates activity” | SEC31B | binding |
| “Cullin 3-RBX1-Skp1” | “up-regulates activity” | SEC31B | monoubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
214 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 175 |
| Likely benign | 17 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4063 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:100488025:A:AC | donor_gain | 1.0000 |
| 10:100488025:ACTGT:A | donor_gain | 1.0000 |
| 10:100488026:C:CC | donor_gain | 1.0000 |
| 10:100488026:CTGT:C | donor_gain | 1.0000 |
| 10:100488026:CTGTC:C | donor_gain | 1.0000 |
| 10:100488099:C:CC | acceptor_gain | 1.0000 |
| 10:100488854:TTA:T | donor_loss | 1.0000 |
| 10:100488855:TA:T | donor_loss | 1.0000 |
| 10:100488856:A:AC | donor_gain | 1.0000 |
| 10:100488856:AC:A | donor_loss | 1.0000 |
| 10:100488857:C:CC | donor_gain | 1.0000 |
| 10:100488857:CT:C | donor_gain | 1.0000 |
| 10:100488857:CTA:C | donor_gain | 1.0000 |
| 10:100488857:CTAA:C | donor_gain | 1.0000 |
| 10:100488857:CTAAG:C | donor_gain | 1.0000 |
| 10:100488975:CTG:C | acceptor_gain | 1.0000 |
| 10:100488976:TG:T | acceptor_gain | 1.0000 |
| 10:100488978:C:CC | acceptor_gain | 1.0000 |
| 10:100489698:TTGAC:T | donor_loss | 1.0000 |
| 10:100489699:TGACC:T | donor_loss | 1.0000 |
| 10:100489700:GACCT:G | donor_loss | 1.0000 |
| 10:100489702:C:CT | donor_loss | 1.0000 |
| 10:100496253:CTTA:C | donor_loss | 1.0000 |
| 10:100496254:TTA:T | donor_loss | 1.0000 |
| 10:100496255:TACCT:T | donor_loss | 1.0000 |
| 10:100496256:A:AT | donor_loss | 1.0000 |
| 10:100496257:C:A | donor_loss | 1.0000 |
| 10:100496429:GTCC:G | acceptor_loss | 1.0000 |
| 10:100496430:TCCTG:T | acceptor_loss | 1.0000 |
| 10:100496432:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
7648 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:100502482:A:C | F394L | 0.972 |
| 10:100502482:A:T | F394L | 0.972 |
| 10:100502484:A:G | F394L | 0.972 |
| 10:100505364:A:C | F392L | 0.965 |
| 10:100505364:A:T | F392L | 0.965 |
| 10:100505366:A:G | F392L | 0.965 |
| 10:100509057:A:G | W149R | 0.963 |
| 10:100509057:A:T | W149R | 0.963 |
| 10:100516165:A:T | I45K | 0.961 |
| 10:100509495:A:G | W74R | 0.954 |
| 10:100509495:A:T | W74R | 0.954 |
| 10:100496289:G:T | A760D | 0.952 |
| 10:100495521:C:G | R779P | 0.950 |
| 10:100487667:G:C | F1163L | 0.948 |
| 10:100487667:G:T | F1163L | 0.948 |
| 10:100487669:A:G | F1163L | 0.948 |
| 10:100509344:A:T | V124D | 0.946 |
| 10:100497730:A:G | W643R | 0.941 |
| 10:100497730:A:T | W643R | 0.941 |
| 10:100509089:G:T | A138D | 0.940 |
| 10:100516165:A:C | I45R | 0.940 |
| 10:100502471:A:G | L398P | 0.936 |
| 10:100502268:A:G | W466R | 0.935 |
| 10:100502268:A:T | W466R | 0.935 |
| 10:100497265:C:G | R669P | 0.932 |
| 10:100497728:C:A | W643C | 0.929 |
| 10:100497728:C:G | W643C | 0.929 |
| 10:100502260:G:C | F468L | 0.928 |
| 10:100502260:G:T | F468L | 0.928 |
| 10:100502262:A:G | F468L | 0.928 |
dbSNP variants (sampled 300 via entrez): RS1000017998 (10:100495123 G>A,C), RS1000088032 (10:100493648 TC>T), RS1000095580 (10:100489125 G>A,C), RS1000161061 (10:100488490 T>C), RS1000240469 (10:100515760 A>G), RS1000292564 (10:100508608 C>A,G,T), RS1000299461 (10:100488767 G>A,T), RS1000405951 (10:100502000 T>C), RS1000534964 (10:100507163 G>T), RS1000758371 (10:100500368 A>G,T), RS1000940729 (10:100514774 C>A), RS1001026005 (10:100513903 G>A), RS1001093881 (10:100520558 C>A,G,T), RS1001123153 (10:100508318 A>G), RS1001209662 (10:100495827 C>T)
Disease associations
OMIM: gene MIM:610258 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001841_4 | Palmitoleic acid (16:1n-7) levels | 6.000000e-09 |
| GCST010703_13 | Brain morphology (MOSTest) | 1.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Cisplatin | decreases expression, affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | affects expression | 1 |
| butyraldehyde | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Air Pollutants | increases abundance, affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Fluorouracil | affects reaction, decreases expression | 1 |
| Methotrexate | increases expression | 1 |
| Ozone | affects cotreatment, decreases expression, increases abundance | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Vincristine | decreases expression | 1 |
| Aflatoxin B1 | decreases expression, increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B5KU | HAP1 SEC31B (-) 2 | Cancer cell line | Male |
| CVCL_XS55 | HAP1 SEC31B (-) 1 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.