NIBAN2
gene geneOn this page
Also known as DKFZP434H0820FLJ13518FLJ22151FLJ22298bA356B19.6MINERVA
Summary
NIBAN2 (niban apoptosis regulator 2, HGNC:25282) is a protein-coding gene on chromosome 9q34.11, encoding Protein Niban 2 (Q96TA1). May play a role in apoptosis suppression.
Enables transcription coactivator activity. Involved in several processes, including gonadotropin secretion; negative regulation of apoptotic process; and regulation of nucleobase-containing compound metabolic process. Located in several cellular components, including adherens junction; cytosol; and nucleoplasm.
Source: NCBI Gene 64855 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 172 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_022833
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25282 |
| Approved symbol | NIBAN2 |
| Name | niban apoptosis regulator 2 |
| Location | 9q34.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA |
| Ensembl gene | ENSG00000136830 |
| Ensembl biotype | protein_coding |
| OMIM | 614045 |
| Entrez | 64855 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000373312, ENST00000373314, ENST00000465154, ENST00000468379, ENST00000476091, ENST00000478917, ENST00000484348, ENST00000901130, ENST00000901131, ENST00000901132, ENST00000901133, ENST00000950663
RefSeq mRNA: 2 — MANE Select: NM_022833
NM_001035534, NM_022833
CCDS: CCDS35144, CCDS35145
Canonical transcript exons
ENST00000373312 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000806827 | 127508422 | 127508538 |
| ENSE00000806828 | 127508976 | 127509131 |
| ENSE00000806829 | 127510146 | 127510333 |
| ENSE00000806830 | 127516857 | 127517019 |
| ENSE00000806831 | 127517112 | 127517216 |
| ENSE00000806833 | 127523679 | 127523846 |
| ENSE00001151599 | 127517826 | 127517941 |
| ENSE00001460181 | 127568820 | 127569073 |
| ENSE00001899743 | 127505343 | 127507431 |
| ENSE00003495797 | 127525058 | 127525163 |
| ENSE00003503540 | 127507867 | 127507978 |
| ENSE00003515898 | 127508093 | 127508200 |
| ENSE00003626813 | 127531648 | 127531778 |
| ENSE00003650563 | 127527194 | 127527322 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 99.68.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.9515 / max 354.9946, expressed in 1729 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102547 | 35.1313 | 1703 |
| 102550 | 4.9091 | 1211 |
| 102548 | 0.5996 | 393 |
| 102546 | 0.5093 | 306 |
| 102545 | 0.4308 | 265 |
| 102538 | 0.1871 | 77 |
| 102552 | 0.1018 | 36 |
| 102551 | 0.0825 | 18 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 99.68 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.56 | gold quality |
| esophagus mucosa | UBERON:0002469 | 99.28 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.74 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.61 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.43 | gold quality |
| oral cavity | UBERON:0000167 | 97.95 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 97.90 | gold quality |
| tibial nerve | UBERON:0001323 | 97.72 | gold quality |
| body of pancreas | UBERON:0001150 | 97.68 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.67 | gold quality |
| upper lobe of lung | UBERON:0008948 | 97.64 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.62 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.61 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.53 | gold quality |
| mouth mucosa | UBERON:0003729 | 97.48 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.45 | gold quality |
| skin of leg | UBERON:0001511 | 97.38 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.32 | gold quality |
| decidua | UBERON:0002450 | 97.31 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.30 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.09 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.02 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.98 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 96.96 | gold quality |
| gingiva | UBERON:0001828 | 96.91 | gold quality |
| esophagus | UBERON:0001043 | 96.90 | gold quality |
| adrenal cortex | UBERON:0001235 | 96.86 | gold quality |
| right lung | UBERON:0002167 | 96.82 | gold quality |
| placenta | UBERON:0001987 | 96.80 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 16.36 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
61 targeting NIBAN2, 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-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
Literature-anchored findings (GeneRIF, showing 5)
- Phosphorylation of FAM129B has a role in controlling melanoma cell invasion. (PMID:19362540)
- The rapid induction of apoptosis in FAM129B knockdown cells was reversed by co-transfection with recombinant FAM129B, indicating that its effect on apoptosis was specific. (PMID:21148485)
- activated EGFR phosphorylates the Y593 residue of the protein known as family with sequence similarity 129, member B (FAM129B), which is overexpressed in many types of human cancer. (PMID:26721396)
- We have demonstrated that FAM129B in cancer promotes Nrf2 activity by reducing its ubiquitination through competition with Nrf2 for Keap1 binding via its DLG and ETGE motifs. In addition, FAM129B reduces chemosensitivity by augmenting Nrf2 antioxidative signaling and confers poor prognosis in breast and lung cancer (PMID:31262713)
- Structural Insight on Functional Regulation of Human MINERVA Protein. (PMID:33142954)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | niban2b | ENSDARG00000008026 |
| danio_rerio | niban2a | ENSDARG00000062970 |
| mus_musculus | Niban2 | ENSMUSG00000026796 |
| rattus_norvegicus | Niban2 | ENSRNOG00000015845 |
Paralogs (2): NIBAN1 (ENSG00000135842), NIBAN3 (ENSG00000167483)
Protein
Protein identifiers
Protein Niban 2 — Q96TA1 (reviewed: Q96TA1)
Alternative names: Meg-3, Melanoma invasion by ERK, Niban-like protein 1, Protein FAM129B
All UniProt accessions (1): Q96TA1
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in apoptosis suppression. May promote melanoma cell invasion in vitro.
Subcellular location. Cytoplasm. Cytosol. Cell junction. Adherens junction. Membrane.
Post-translational modifications. Phosphorylated at Ser-641, Ser-646, Ser-692 and Ser-696 by the BRAF/MKK/ERK signaling cascade. In melanoma cells, the C-terminal phosphorylation may prevent targeting to the plasma membrane. As apoptosis proceeds, degraded via an proteasome-independent pathway, probably by caspases.
Similarity. Belongs to the Niban family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96TA1-1 | 1 | yes |
| Q96TA1-2 | 2 |
RefSeq proteins (2): NP_001030611, NP_073744* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001849 | PH_domain | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR026088 | Niban-like | Family |
| IPR059060 | Niban_1/2/3_dom | Domain |
Pfam: PF26086, PF26089
UniProt features (71 total): helix 20, modified residue 14, mutagenesis site 12, strand 9, turn 6, sequence conflict 2, compositionally biased region 2, initiator methionine 1, chain 1, domain 1, lipid moiety-binding region 1, splice variant 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7CTP | X-RAY DIFFRACTION | 1.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96TA1-F1 | 81.06 | 0.64 |
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 (15): 606, 609, 624, 638, 641, 646, 665, 681, 692, 696, 2, 568, 574, 601, 603
Mutagenesis-validated functional residues (12):
| Position | Phenotype |
|---|---|
| 641 | loss of melanoma cell invasion; when associated with a-646; a-665; a-681; a-679 and a-683. |
| 641 | promotes melanoma cell invasion; when associated with d/e-633; d/e-652; d/e-668; d/e-679 and d/e-683. |
| 646 | loss of melanoma cell invasion; when associated with a-641; a-665; a-681; a-679 and a-683. |
| 646 | promotes melanoma cell invasion; when associated with d/e-628; d/e-652; d/e-668; d/e-679 and d/e-683. |
| 665 | loss of melanoma cell invasion; when associated with a-641; a-646; a-681; a-679 and a-683. |
| 665 | promotes melanoma cell invasion; when associated with d/e-628; d/e-633; d/e-668; d/e-679 and d/e-683. |
| 681 | loss of melanoma cell invasion; when associated with a-641; a-646; a-665; a-679 and a-683. |
| 681 | promotes melanoma cell invasion; when associated with d/e-628; d/e-633; d/e-652; d/e-679 and d/e-683. |
| 692 | loss of melanoma cell invasion; when associated with a-641; a-646; a-665; a-668 and a-683. |
| 692 | promotes melanoma cell invasion; when associated with d/e-628; d/e-633; d/e-652; d/e-668 and d/e-683. |
| 696 | loss of melanoma cell invasion; when associated with a-641; a-646; a-665; a-668 and a-679. |
| 696 | promotes melanoma cell invasion; when associated with d/e-628; d/e-633; d/e-652; d/e-668 and d/e-679. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 194 (showing top):
GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_POSITIVE_REGULATION_OF_BINDING, GTGCCTT_MIR506, MODULE_205, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_NEGATIVE_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS, GOBP_SECRETION, LIAO_METASTASIS, GOBP_SIGNAL_RELEASE, GOBP_DNA_BIOSYNTHETIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_REGULATORY_REGION_DNA_BINDING, GOBP_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS, ACTTTAT_MIR1425P
GO Biological Process (7): negative regulation of cell population proliferation (GO:0008285), gonadotropin secretion (GO:0032274), negative regulation of apoptotic process (GO:0043066), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), negative regulation of DNA biosynthetic process (GO:2000279), positive regulation of transcription regulatory region DNA binding (GO:2000679)
GO Molecular Function (3): transcription coactivator activity (GO:0003713), cadherin binding (GO:0045296), protein binding (GO:0005515)
GO Cellular Component (9): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), adherens junction (GO:0005912), extracellular exosome (GO:0070062), membrane (GO:0016020), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| DNA-templated transcription | 2 |
| regulation of DNA-templated transcription | 2 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| hormone secretion | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| negative regulation of macromolecule biosynthetic process | 1 |
| negative regulation of DNA metabolic process | 1 |
| DNA biosynthetic process | 1 |
| regulation of DNA biosynthetic process | 1 |
| transcription cis-regulatory region binding | 1 |
| positive regulation of DNA binding | 1 |
| regulation of transcription regulatory region DNA binding | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| cell adhesion molecule binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-cell junction | 1 |
| extracellular vesicle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
2055 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NIBAN2 | TMEM120B | A0PK00 | 475 |
| NIBAN2 | RHOF | Q9HBH0 | 410 |
| NIBAN2 | C5orf52 | A6NGY3 | 397 |
| NIBAN2 | DPP3 | Q9NY33 | 372 |
| NIBAN2 | KEAP1 | Q14145 | 369 |
| NIBAN2 | OR8G1 | Q15617 | 365 |
| NIBAN2 | SUZ12 | Q15022 | 353 |
| NIBAN2 | HS1BP3 | Q53T59 | 352 |
| NIBAN2 | GABARAPL2 | P60520 | 348 |
| NIBAN2 | CHD6 | Q8TD26 | 337 |
| NIBAN2 | OR51F1 | A6NGY5 | 321 |
| NIBAN2 | GAPDH | P00354 | 314 |
| NIBAN2 | TMEM120A | Q9BXJ8 | 313 |
| NIBAN2 | DENND10 | Q8TCE6 | 310 |
| NIBAN2 | SAMD10 | Q9BYL1 | 304 |
IntAct
100 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KEAP1 | NFE2L2 | psi-mi:“MI:0914”(association) | 0.980 |
| AKR7A3 | AKR7A2 | psi-mi:“MI:0914”(association) | 0.890 |
| NIBAN2 | KEAP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NIBAN2 | KEAP1 | psi-mi:“MI:0403”(colocalization) | 0.720 |
| NIBAN2 | KEAP1 | psi-mi:“MI:2364”(proximity) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| KCNJ2 | KCNJ18 | psi-mi:“MI:2364”(proximity) | 0.660 |
| IGF1R | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.590 |
| INSR | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.570 |
| MSRB2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| NIBAN2 | psi-mi:“MI:0407”(direct interaction) | 0.520 | |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| NIBAN2 | Niban2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF512B | NIBAN2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (178): FAM129B (Affinity Capture-MS), FAM129B (Proximity Label-MS), FAM129B (Affinity Capture-MS), FAM129B (Affinity Capture-MS), FAM129B (Affinity Capture-Western), FAM129B (Reconstituted Complex), FAM129B (Biochemical Activity), FAM129B (Affinity Capture-Western), HRAS (Affinity Capture-Western), KRAS (Affinity Capture-Western), FAM129B (Proximity Label-MS), FAM129B (Proximity Label-MS), FAM129B (Proximity Label-MS), FAM129B (Affinity Capture-MS), FAM129B (Affinity Capture-MS)
ESM2 similar proteins: A2AQ25, A6H7A8, B0R1D5, B4F7E8, E9PSK7, F1R7R1, O00472, O14795, P12755, P17863, P49140, Q50H33, Q5DTY9, Q5FVG6, Q5R595, Q5R6Y9, Q5RHQ8, Q5ZJK1, Q60698, Q62739, Q62769, Q68DU8, Q6DC03, Q6PCM2, Q6ZWB6, Q7SYD9, Q80U62, Q812A5, Q8BYR5, Q8CID0, Q8N228, Q8N5Y2, Q8R1F1, Q8TEK3, Q8VDD9, Q8VI24, Q91Y53, Q92622, Q96QF0, Q96TA1
Diamond homologs: B4F7E8, Q3UW53, Q8R1F1, Q96TA1, Q9BZQ8, Q9ESN0
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EGFR | “up-regulates activity” | NIBAN2 | phosphorylation |
| NIBAN2 | “up-regulates activity” | HRAS | binding |
| BRAF | “down-regulates activity” | NIBAN2 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 98 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Constitutive Signaling by Aberrant PI3K in Cancer | 6 | 11.7× | 3e-03 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 7 | 10.4× | 2e-03 |
| PIP3 activates AKT signaling | 7 | 7.2× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein autophosphorylation | 7 | 11.7× | 2e-03 |
| positive regulation of cell migration | 9 | 6.4× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
172 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 145 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1527561 | GRCh37/hg19 9q34.11(chr9:130306022-130522616) | Pathogenic |
SpliceAI
2884 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:127507427:CACAG:C | acceptor_gain | 1.0000 |
| 9:127507428:ACAG:A | acceptor_gain | 1.0000 |
| 9:127507429:CAG:C | acceptor_gain | 1.0000 |
| 9:127507429:CAGC:C | acceptor_gain | 1.0000 |
| 9:127507430:AG:A | acceptor_gain | 1.0000 |
| 9:127507430:AGC:A | acceptor_loss | 1.0000 |
| 9:127507431:GCTA:G | acceptor_loss | 1.0000 |
| 9:127507432:C:CC | acceptor_gain | 1.0000 |
| 9:127507441:C:CT | acceptor_gain | 1.0000 |
| 9:127507441:C:T | acceptor_gain | 1.0000 |
| 9:127507862:CCCA:C | donor_loss | 1.0000 |
| 9:127507863:CCAC:C | donor_loss | 1.0000 |
| 9:127507864:CACC:C | donor_loss | 1.0000 |
| 9:127507865:A:AC | donor_gain | 1.0000 |
| 9:127507865:AC:A | donor_gain | 1.0000 |
| 9:127507866:C:CA | donor_gain | 1.0000 |
| 9:127507866:C:CC | donor_gain | 1.0000 |
| 9:127507866:CCCTG:C | donor_gain | 1.0000 |
| 9:127507878:T:TA | donor_gain | 1.0000 |
| 9:127507882:T:TA | donor_gain | 1.0000 |
| 9:127507905:T:TA | donor_gain | 1.0000 |
| 9:127507974:AGCTC:A | acceptor_gain | 1.0000 |
| 9:127507976:CTC:C | acceptor_gain | 1.0000 |
| 9:127507977:TC:T | acceptor_gain | 1.0000 |
| 9:127507978:CC:C | acceptor_gain | 1.0000 |
| 9:127507979:C:CC | acceptor_gain | 1.0000 |
| 9:127507983:CCGGG:C | acceptor_gain | 1.0000 |
| 9:127507984:C:T | acceptor_gain | 1.0000 |
| 9:127507984:CGGG:C | acceptor_gain | 1.0000 |
| 9:127507985:G:T | acceptor_gain | 1.0000 |
AlphaMissense
4888 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:127507949:G:C | F524L | 0.999 |
| 9:127507949:G:T | F524L | 0.999 |
| 9:127507951:A:G | F524L | 0.999 |
| 9:127508148:A:G | L496P | 0.999 |
| 9:127508152:C:G | A495P | 0.999 |
| 9:127508183:G:C | S484R | 0.999 |
| 9:127508183:G:T | S484R | 0.999 |
| 9:127508185:T:G | S484R | 0.999 |
| 9:127510238:C:G | G357R | 0.999 |
| 9:127510258:A:G | L350P | 0.999 |
| 9:127510267:A:G | L347P | 0.999 |
| 9:127510291:A:T | V339D | 0.999 |
| 9:127508112:A:G | L508P | 0.998 |
| 9:127508121:A:G | L505P | 0.998 |
| 9:127508124:A:G | L504P | 0.998 |
| 9:127508172:C:G | R488P | 0.998 |
| 9:127508187:T:A | D483V | 0.998 |
| 9:127509030:A:C | F421L | 0.998 |
| 9:127509030:A:T | F421L | 0.998 |
| 9:127509032:A:G | F421L | 0.998 |
| 9:127510242:G:C | S355R | 0.998 |
| 9:127510242:G:T | S355R | 0.998 |
| 9:127510244:T:G | S355R | 0.998 |
| 9:127516874:A:G | L319P | 0.998 |
| 9:127517881:C:G | R217P | 0.998 |
| 9:127517897:C:G | A212P | 0.998 |
| 9:127527256:A:G | W85R | 0.998 |
| 9:127527256:A:T | W85R | 0.998 |
| 9:127507887:A:T | V545D | 0.997 |
| 9:127507899:A:T | V541E | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000042576 (9:127504878 G>A,C), RS1000045118 (9:127540887 C>T), RS1000096891 (9:127541086 G>A,C,T), RS1000163333 (9:127570211 T>C), RS1000178709 (9:127544011 G>A), RS1000189777 (9:127562017 G>A), RS1000299488 (9:127519412 A>C), RS1000304907 (9:127530048 G>A), RS1000318648 (9:127535520 G>A), RS1000326757 (9:127517333 A>G), RS1000473419 (9:127561682 G>A), RS1000519996 (9:127505202 G>A,T), RS1000523940 (9:127563094 C>T), RS1000533671 (9:127526474 C>A,T), RS1000569084 (9:127506216 C>T)
Disease associations
OMIM: gene MIM:614045 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006288_304 | Heel bone mineral density | 2.000000e-10 |
| GCST006288_622 | Heel bone mineral density | 1.000000e-10 |
| GCST006624_65 | Systolic blood pressure | 3.000000e-12 |
| GCST006979_553 | Heel bone mineral density | 9.000000e-26 |
| GCST011066_1 | Motor fluctuations in levodopa treated Parkinson’s disease | 7.000000e-06 |
| GCST90002390_398 | Mean corpuscular hemoglobin | 8.000000e-10 |
| GCST90002400_388 | Plateletcrit | 1.000000e-09 |
| GCST90002402_72 | Platelet count | 4.000000e-11 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009270 | heel bone mineral density |
| EFO:0006335 | systolic blood pressure |
| EFO:0010747 | response to levodopa |
| EFO:0010749 | motor function measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067097 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression | 5 |
| bisphenol A | decreases expression, decreases methylation, increases expression | 3 |
| sodium arsenite | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| propylparaben | increases expression | 1 |
| lead acetate | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization | 1 |
| trichostatin A | increases expression | 1 |
| methylparaben | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| phenanthrene | decreases expression | 1 |
| perfluorodecanoic acid | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 2-palmitoylglycerol | 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 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651402 | Binding | Binding affinity to human FAM129B incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3CD | Abcam HEK293T NIBAN2 KO | Transformed cell line | Female |
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.