OCIAD2
gene geneOn this page
Also known as MGC45416
Summary
OCIAD2 (OCIA domain containing 2, HGNC:28685) is a protein-coding gene on chromosome 4p11, encoding OCIA domain-containing protein 2 (Q56VL3). Has an essential role in the assembly of mitochondrial respiratory chain complex III.
Predicted to be involved in endocytosis; hematopoietic stem cell homeostasis; and positive regulation of receptor signaling pathway via JAK-STAT. Predicted to act upstream of or within response to bacterium. Located in mitochondrion.
Source: NCBI Gene 132299 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 47 total
- Druggable target: yes
- MANE Select transcript:
NM_001014446
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28685 |
| Approved symbol | OCIAD2 |
| Name | OCIA domain containing 2 |
| Location | 4p11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC45416 |
| Ensembl gene | ENSG00000145247 |
| Ensembl biotype | protein_coding |
| OMIM | 619633 |
| Entrez | 132299 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 18 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000273860, ENST00000381464, ENST00000506226, ENST00000508069, ENST00000508632, ENST00000510159, ENST00000512087, ENST00000514155, ENST00000514576, ENST00000620187, ENST00000899075, ENST00000899076, ENST00000899077, ENST00000899078, ENST00000899079, ENST00000899080, ENST00000899081, ENST00000899082, ENST00000928706, ENST00000928707, ENST00000928708, ENST00000928709, ENST00000928710, ENST00000928711
RefSeq mRNA: 4 — MANE Select: NM_001014446
NM_001014446, NM_001286773, NM_001286774, NM_152398
CCDS: CCDS33981, CCDS3485
Canonical transcript exons
ENST00000508632 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002026887 | 48906658 | 48906774 |
| ENSE00002043035 | 48885019 | 48885565 |
| ENSE00003560566 | 48899829 | 48899925 |
| ENSE00003612706 | 48897804 | 48897857 |
| ENSE00003648025 | 48892772 | 48892889 |
| ENSE00003658343 | 48904484 | 48904611 |
| ENSE00003784162 | 48894006 | 48894053 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 99.21.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.0882 / max 370.2458, expressed in 1633 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 52094 | 22.3691 | 1603 |
| 52095 | 2.3367 | 1028 |
| 52096 | 0.3824 | 192 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| kidney epithelium | UBERON:0004819 | 99.21 | gold quality |
| ileal mucosa | UBERON:0000331 | 98.97 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.65 | gold quality |
| embryo | UBERON:0000922 | 98.64 | gold quality |
| cortical plate | UBERON:0005343 | 98.44 | gold quality |
| duodenum | UBERON:0002114 | 98.06 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 97.37 | gold quality |
| cortex of kidney | UBERON:0001225 | 96.87 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.83 | gold quality |
| renal medulla | UBERON:0000362 | 96.83 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.81 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.66 | gold quality |
| kidney | UBERON:0002113 | 96.46 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 96.36 | gold quality |
| pancreatic ductal cell | CL:0002079 | 96.31 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.75 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 95.70 | gold quality |
| oviduct epithelium | UBERON:0004804 | 95.67 | gold quality |
| rectum | UBERON:0001052 | 95.51 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.45 | gold quality |
| thymus | UBERON:0002370 | 95.36 | gold quality |
| liver | UBERON:0002107 | 95.16 | gold quality |
| pituitary gland | UBERON:0000007 | 94.43 | gold quality |
| colonic mucosa | UBERON:0000317 | 94.43 | gold quality |
| caput epididymis | UBERON:0004358 | 94.38 | gold quality |
| gall bladder | UBERON:0002110 | 94.18 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.08 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 94.01 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 93.99 | gold quality |
| corpus epididymis | UBERON:0004359 | 93.77 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-15 | yes | 910.63 |
| E-MTAB-8271 | yes | 218.25 |
| E-HCAD-4 | yes | 147.20 |
| E-MTAB-10287 | yes | 46.91 |
| E-HCAD-10 | yes | 29.16 |
| E-MTAB-8410 | yes | 23.91 |
| E-HCAD-5 | yes | 20.19 |
| E-MTAB-10042 | yes | 15.33 |
| E-CURD-114 | yes | 9.17 |
| E-CURD-112 | yes | 8.19 |
| E-MTAB-6108 | no | 548.69 |
| E-GEOD-124858 | no | 274.96 |
| E-MTAB-10018 | no | 256.92 |
| E-CURD-120 | no | 7.45 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
15 targeting OCIAD2, 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-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
| HSA-MIR-548K | 99.60 | 70.84 | 2107 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-8054 | 99.48 | 70.81 | 2084 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-6847-5P | 97.93 | 66.74 | 1808 |
| HSA-MIR-12127 | 97.93 | 66.67 | 793 |
| HSA-MIR-375-3P | 97.91 | 65.12 | 483 |
| HSA-MIR-4257 | 97.86 | 68.05 | 1190 |
| HSA-MIR-4287 | 97.55 | 67.24 | 1247 |
Literature-anchored findings (GeneRIF, showing 10)
- Like OCIAD1, OCIAD2 is a cancer-related protein and its expression level increases during the course of malignant progression and is thought to be a very useful marker for evaluating the malignancy of ovarian mucinous tumors. (PMID:22726067)
- OCIAD2 also increased the interaction of nicastrin with C99 and stimulated APP processing via gamma-secretase activation, but did not affect Notch processing (PMID:24270855)
- it well explained the mechanism of TGFbeta induced OCIAD2 expression in cancer microenvironment, therefore providing an important clue for the future functional analysis of OCIAD2 in tumor pathogenesis. (PMID:24949437)
- these data indicate that reduced expression of OCIAD2 by DNA hypermethylation plays an important role in hepatocellular carcinoma tumor growth and invasion. (PMID:28911005)
- Our results suggest that OCIAD2 could be a useful prognostic biomarker of lung adenocarcinoma (PMID:30320419)
- Cellular OCIAD2 protein is a proviral factor for hepatitis C virus replication. (PMID:34371038)
- Ovarian carcinoma immunoreactive antigen domain 2 controls mitochondrial apoptosis in lung adenocarcinoma. (PMID:34628698)
- Ovarian carcinoma immunoreactive antigen-like protein 2 (OCIAD2) is a novel complex III-specific assembly factor in mitochondria. (PMID:35080992)
- Aberrant OCIAD2 demethylation in lung adenocarcinoma is associated with outcome. (PMID:35920378)
- OCIAD2 promotes pancreatic cancer progression through the AKT signaling pathway. (PMID:38944166)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ociad2 | ENSDARG00000052336 |
| mus_musculus | Ociad2 | ENSMUSG00000029153 |
| rattus_norvegicus | Ociad2 | ENSRNOG00000002196 |
| drosophila_melanogaster | asrij | FBGN0034793 |
Paralogs (1): OCIAD1 (ENSG00000109180)
Protein
Protein identifiers
OCIA domain-containing protein 2 — Q56VL3 (reviewed: Q56VL3)
Alternative names: Ovarian carcinoma immunoreactive antigen-like protein
All UniProt accessions (3): D6RD77, Q56VL3, J3KPI9
UniProt curated annotations — full annotation on UniProt →
Function. Has an essential role in the assembly of mitochondrial respiratory chain complex III. Is also required for STAT3 activation and plays a role in cell migration.
Subunit / interactions. Interacts (via OCIA domain) with OCIAD1/ASRIJ and STAT3.
Subcellular location. Endosome. Mitochondrion. Mitochondrion inner membrane.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q56VL3-1 | 1 | yes |
| Q56VL3-2 | 2 |
RefSeq proteins (4): NP_001014446, NP_001273702, NP_001273703, NP_689611 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009764 | OCIA_dom | Domain |
| IPR040187 | OCAD1/2 | Family |
Pfam: PF07051
UniProt features (6 total): chain 1, domain 1, region of interest 1, modified residue 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q56VL3-F1 | 57.29 | 0.00 |
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 (1): 41
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 137 (showing top):
STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY_VIA_JAK_STAT, BRUECKNER_TARGETS_OF_MIRLET7A3_DN, GOBP_CYTOCHROME_COMPLEX_ASSEMBLY, KOYAMA_SEMA3B_TARGETS_UP, GOCC_MITOCHONDRIAL_ENVELOPE, chr4p11, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_IMPORT_INTO_CELL, GOBP_ENDOCYTOSIS, OSMAN_BLADDER_CANCER_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_UP
GO Biological Process (6): endocytosis (GO:0006897), response to bacterium (GO:0009617), cell migration (GO:0016477), mitochondrial respiratory chain complex III assembly (GO:0034551), positive regulation of receptor signaling pathway via JAK-STAT (GO:0046427), hematopoietic stem cell homeostasis (GO:0061484)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), lysosome (GO:0005764), endosome (GO:0005768), Golgi apparatus (GO:0005794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| endomembrane system | 2 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| vesicle-mediated transport | 1 |
| import into cell | 1 |
| response to other organism | 1 |
| cell motility | 1 |
| mitochondrion | 1 |
| respiratory chain complex III assembly | 1 |
| mitochondrial respiratory chain complex assembly | 1 |
| cell surface receptor signaling pathway via JAK-STAT | 1 |
| regulation of receptor signaling pathway via JAK-STAT | 1 |
| positive regulation of receptor signaling pathway via STAT | 1 |
| homeostasis of number of cells | 1 |
| binding | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| lytic vacuole | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
786 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OCIAD2 | TIGD4 | Q8IY51 | 519 |
| OCIAD2 | DCUN1D4 | Q92564 | 507 |
| OCIAD2 | TMEM131L | A2VDJ0 | 504 |
| OCIAD2 | SMIM14 | Q96QK8 | 489 |
| OCIAD2 | SYNPO2 | Q9UMS6 | 472 |
| OCIAD2 | COMMD8 | Q9NX08 | 472 |
| OCIAD2 | TBC1D30 | Q9Y2I9 | 470 |
| OCIAD2 | RNF182 | Q8N6D2 | 469 |
| OCIAD2 | RNF150 | Q9ULK6 | 462 |
| OCIAD2 | NRIP3 | Q9NQ35 | 460 |
| OCIAD2 | LHFPL2 | Q6ZUX7 | 457 |
| OCIAD2 | GPR180 | Q86V85 | 448 |
| OCIAD2 | ARFIP1 | P53367 | 447 |
| OCIAD2 | PARP6 | Q2NL67 | 447 |
| OCIAD2 | FAM120AOS | Q5T036 | 433 |
IntAct
41 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ANKH | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| KCNIP3 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SHFL | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TRIP12 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KIF20B | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TAOK1 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CYP3A43 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DNAH12 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SUPT5H | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIK3 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ECEL1 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SCIN | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RPL17 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TBC1D14 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FAM199X | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SENP5 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HPF1 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| OCIAD2 | rep | psi-mi:“MI:0915”(physical association) | 0.370 |
| S100A9 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| SMIM26 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN15 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR45 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| NAAA | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD10 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC19A2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (83): OCIAD2 (Affinity Capture-MS), OCIAD2 (Affinity Capture-MS), OCIAD2 (PCA), OCIAD2 (Affinity Capture-MS), OCIAD2 (Affinity Capture-Western), OCIAD1 (Affinity Capture-Western), OCIAD2 (Affinity Capture-Western), STAT3 (Affinity Capture-Western), VDAC3 (Co-fractionation), OCIAD2 (Co-fractionation), OCIAD2 (Co-fractionation), OCIAD2 (Co-fractionation), OCIAD2 (Co-fractionation), SCCPDH (Co-fractionation), ACOT9 (Co-fractionation)
ESM2 similar proteins: A0A1N7SYS3, A1A619, A3LP48, A9ULX8, B0BN56, D4A2Y9, F1NVK6, F6UF99, O04326, P40508, P82908, P82925, P92204, Q02854, Q04935, Q0P5B1, Q1LVV0, Q28GQ3, Q28HF6, Q28X44, Q2UDY8, Q3SYY7, Q3V0J1, Q56VL3, Q5I030, Q5R891, Q5XI29, Q61733, Q659C4, Q66IE4, Q68EU0, Q6AZH0, Q6BI17, Q6CHT7, Q6CJX5, Q6DFB7, Q6DFJ8, Q6NYD7, Q6PFM4, Q75D23
Diamond homologs: A1A619, Q28GQ3, Q28X44, Q3SYY7, Q56VL3, Q5E948, Q5RD48, Q5XIG4, Q6NYD7, Q9CRD0, Q9D8W7, Q9NX40, Q9W1X9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
984 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:48906653:CTCA:C | donor_loss | 1.0000 |
| 4:48906654:TCACC:T | donor_loss | 1.0000 |
| 4:48906655:CAC:C | donor_loss | 1.0000 |
| 4:48906656:A:AT | donor_loss | 1.0000 |
| 4:48906657:C:A | donor_loss | 1.0000 |
| 4:48892890:C:CC | acceptor_gain | 0.9900 |
| 4:48904612:C:CC | acceptor_gain | 0.9900 |
| 4:48906652:GCTCA:G | donor_loss | 0.9900 |
| 4:48906656:A:AC | donor_gain | 0.9900 |
| 4:48906657:C:CC | donor_gain | 0.9900 |
| 4:48892887:CAA:C | acceptor_gain | 0.9800 |
| 4:48894004:A:AC | donor_gain | 0.9800 |
| 4:48894005:C:CC | donor_gain | 0.9800 |
| 4:48897122:T:TA | donor_gain | 0.9800 |
| 4:48897163:AGG:A | donor_gain | 0.9800 |
| 4:48906657:CCT:C | donor_gain | 0.9800 |
| 4:48894005:CGTG:C | donor_gain | 0.9700 |
| 4:48906656:AC:A | donor_gain | 0.9700 |
| 4:48906657:CC:C | donor_gain | 0.9700 |
| 4:48892886:GCAAC:G | acceptor_loss | 0.9600 |
| 4:48892887:CAACT:C | acceptor_loss | 0.9600 |
| 4:48892888:AAC:A | acceptor_loss | 0.9600 |
| 4:48892889:AC:A | acceptor_loss | 0.9600 |
| 4:48892890:C:T | acceptor_loss | 0.9600 |
| 4:48892891:T:G | acceptor_loss | 0.9600 |
| 4:48904486:G:A | donor_gain | 0.9600 |
| 4:48906657:CCTG:C | donor_gain | 0.9600 |
| 4:48906657:CCTGT:C | donor_gain | 0.9600 |
| 4:48885564:GCCTA:G | acceptor_loss | 0.9500 |
| 4:48885565:CCTAG:C | acceptor_loss | 0.9500 |
AlphaMissense
999 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:48897835:G:C | S62R | 0.993 |
| 4:48897835:G:T | S62R | 0.993 |
| 4:48897837:T:G | S62R | 0.993 |
| 4:48899855:C:G | C46S | 0.976 |
| 4:48899856:A:T | C46S | 0.976 |
| 4:48892838:C:G | C106S | 0.968 |
| 4:48892839:A:T | C106S | 0.968 |
| 4:48899842:A:C | S50R | 0.968 |
| 4:48899842:A:T | S50R | 0.968 |
| 4:48899844:T:G | S50R | 0.968 |
| 4:48892874:C:T | G94E | 0.964 |
| 4:48892883:C:T | G91D | 0.964 |
| 4:48892886:G:T | A90D | 0.961 |
| 4:48899856:A:G | C46R | 0.961 |
| 4:48899830:T:A | R54S | 0.959 |
| 4:48899830:T:G | R54S | 0.959 |
| 4:48892875:C:G | G94R | 0.958 |
| 4:48892875:C:T | G94R | 0.958 |
| 4:48892863:C:G | G98R | 0.957 |
| 4:48892863:C:T | G98R | 0.957 |
| 4:48897833:A:T | M63K | 0.957 |
| 4:48899839:G:C | F51L | 0.957 |
| 4:48899839:G:T | F51L | 0.957 |
| 4:48899841:A:G | F51L | 0.957 |
| 4:48897827:A:T | V65D | 0.955 |
| 4:48894013:T:A | K86N | 0.953 |
| 4:48894013:T:G | K86N | 0.953 |
| 4:48892862:C:T | G98E | 0.952 |
| 4:48892839:A:G | C106R | 0.951 |
| 4:48892868:C:T | G96D | 0.951 |
dbSNP variants (sampled 300 via entrez): RS1000236018 (4:48908700 G>A), RS1000517012 (4:48901156 A>G), RS1000978863 (4:48884635 A>C), RS1001347907 (4:48902098 T>C), RS1001419327 (4:48908375 G>C), RS1001539987 (4:48890004 G>A), RS1002357488 (4:48889274 G>C), RS1002692959 (4:48888203 C>T), RS1002928303 (4:48901037 A>C,G), RS1003024697 (4:48900801 C>T), RS1003252414 (4:48893951 G>A,C), RS1003266996 (4:48899307 C>G), RS1003423558 (4:48906062 A>G), RS1003444115 (4:48900669 G>T), RS1003499276 (4:48907233 T>G)
Disease associations
OMIM: gene MIM:619633 | 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 |
|---|---|---|
| GCST007094_157 | Diastolic blood pressure | 6.000000e-06 |
| GCST007099_37 | Systolic blood pressure | 2.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006336 | diastolic blood pressure |
| EFO:0006335 | systolic blood pressure |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066320 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.49 | Kd | 3242 | nM | CHEMBL5653589 |
| 5.49 | ED50 | 3242 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148910: Binding affinity to human OCIAD2 incubated for 45 mins by Kinobead based pull down assay | kd | 3.2416 | uM |
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment | 2 |
| Acetaminophen | decreases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Valproic Acid | affects cotreatment, increases expression, increases methylation | 2 |
| GSK-J4 | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| chloropicrin | increases 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 |
| belinostat | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | decreases 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 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects expression | 1 |
| Dexamethasone | affects cotreatment, 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 |
|---|---|---|---|
| CHEMBL5651952 | Binding | Binding affinity to human OCIAD2 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
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C6Q6 | BJNhem20-OCIAD2-CRISPR-33 | Embryonic stem cell | Female |
| CVCL_C6Q7 | BJNhem20-OCIAD2-CRISPR-40 | Embryonic stem cell | Female |
| CVCL_C6Q8 | BJNhem20-OCIAD2-OV | Embryonic stem cell | 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.