IGBP1

Summary

IGBP1 (immunoglobulin binding protein 1, HGNC:5461) is a protein-coding gene on chromosome Xq13.1, encoding Immunoglobulin-binding protein 1 (P78318). Associated to surface IgM-receptor; may be involved in signal transduction. It is a common-essential gene (DepMap: required in 97.9% of cancer cell lines).

The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways.

Source: NCBI Gene 3476 — RefSeq curated summary.

At a glance

• Gene–disease (curated): corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (Supportive, GenCC)
• Clinical variants (ClinVar): 89 total — 2 pathogenic
• Phenotypes (HPO): 37
• Cancer dependency (DepMap): dependent in 97.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_001551

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5461
Approved symbol	IGBP1
Name	immunoglobulin binding protein 1
Location	Xq13.1
Locus type	gene with protein product
Status	Approved
Aliases	α4
Ensembl gene	ENSG00000089289
Ensembl biotype	protein_coding
OMIM	300139
Entrez	3476

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 10 protein_coding

ENST00000342206, ENST00000356413, ENST00000865225, ENST00000937166, ENST00000937167, ENST00000937168, ENST00000937169, ENST00000937170, ENST00000943387, ENST00000943388

RefSeq mRNA: 4 — MANE Select: NM_001551 NM_001370192, NM_001370193, NM_001370194, NM_001551

CCDS: CCDS14396

Canonical transcript exons

ENST00000356413 — 7 exons

Exon	Start	End
ENSE00000567166	70146633	70146828
ENSE00000672343	70150210	70150322
ENSE00000672345	70148761	70148840
ENSE00000672349	70134523	70134816
ENSE00001425734	70133723	70134135
ENSE00001426213	70133447	70133540
ENSE00001911361	70165833	70166324

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 97.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 70.2193 / max 471.7202, expressed in 1826 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
196617	67.2421	1825
196616	2.9773	1514

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	97.52	gold quality
body of pancreas	UBERON:0001150	97.37	gold quality
left ovary	UBERON:0002119	96.91	gold quality
tendon of biceps brachii	UBERON:0008188	96.54	gold quality
ganglionic eminence	UBERON:0004023	96.46	gold quality
gastrocnemius	UBERON:0001388	96.33	gold quality
muscle of leg	UBERON:0001383	96.26	gold quality
gluteal muscle	UBERON:0002000	96.21	gold quality
pancreas	UBERON:0001264	96.18	gold quality
calcaneal tendon	UBERON:0003701	96.13	gold quality
ovary	UBERON:0000992	96.04	gold quality
parotid gland	UBERON:0001831	96.02	gold quality
endometrium epithelium	UBERON:0004811	95.95	gold quality
right ovary	UBERON:0002118	95.82	gold quality
monocyte	CL:0000576	95.76	gold quality
body of stomach	UBERON:0001161	95.72	gold quality
tendon	UBERON:0000043	95.70	gold quality
muscle organ	UBERON:0001630	95.70	gold quality
leukocyte	CL:0000738	95.68	gold quality
mononuclear cell	CL:0000842	95.66	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.60	gold quality
islet of Langerhans	UBERON:0000006	95.40	gold quality
rectum	UBERON:0001052	95.40	gold quality
endocervix	UBERON:0000458	95.22	gold quality
mucosa of stomach	UBERON:0001199	95.22	gold quality
triceps brachii	UBERON:0001509	95.22	gold quality
granulocyte	CL:0000094	95.17	gold quality
biceps brachii	UBERON:0001507	95.17	gold quality
skin of abdomen	UBERON:0001416	95.08	gold quality
gall bladder	UBERON:0002110	95.08	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BATF, EGR3, GLI2, GLI3, IRF1, JDP2, PAX6, RARA, SNAI1, TP53

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 97.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 17)

• Alpha 4, a regulatory subunit of PP2-type phosphatases and a key component of the rapamycin-sensitive signaling pathway, has been indentified as a strong interactor of both MID1 and MID2. (PMID:11806752)
• alpha4 C-terminal deletion mutants at 222 (alpha4Delta222), 236 (alpha4Delta236) & 254 (alpha4Delta254) were expressed. alpha4Delta222 & alpha4Delta236 possess a higher content of alpha-helix, indicating that C-terminal region is less structured. (PMID:16517231)
• a new role for mTOR and alpha4/PP2Ac in the control of STAT1 nuclear content, and the expression of interferon-gamma-sensitive genes involved in immunity and apoptosis. (PMID:19553685)
• Data show that in addition to PP2Ac, alpha4 interacts with EDD and PABP, suggesting its involvement in multiple steps in the mTOR pathway that leads to translation initiation and cell-cycle progression. (PMID:20544796)
• alpha4 is highly expressed in carcinogen-transformed human cells and primary human cancers. (PMID:21339737)
• IGBP-1 is expressed universally in advanced lung adenocarcinomas, and its overexpression is significantly related to outcome. (PMID:21355954)
• both the C-terminal Mid1-binding domain and the PP2Ac-binding determinants are required for Alpha4-mediated protection of PP2Ac from polyubiquitination and degradation. (PMID:21454489)
• The structure of alpha45 reveals two distinct surfaces, one that can interact with a negatively charged surface, which is present on PP2A, and one that interacts with the Bbox1 domain of MID1. (PMID:22194938)
• the alpha4 N-terminus binding to endogenous PP2Ac and PABP, and the C-terminus to EDD, is reported. (PMID:24145130)
• A potential important role of alpha4 in control of cell migration and/or invasion via the regulation of E-cadherin expression in bladder urothelial carcinoma. (PMID:24388773)
• MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac in X-linked Opitz syndrome. (PMID:25207814)
• alpha4 is an important regulatory molecule of apoptosis and Bcl-xL phosphorylation induced by BCR crosslinking. (PMID:25876659)
• Data show that loss of epithelial membrane protein 2 (EMP2) is involved in sphingosylphosphorylcholine (SPC)-induced phosphorylation of keratin 8 (K8) via ubiquitination of protein phosphatase 2 (PP2A) through alpha4 phosphoprotein by caveolin-1 (cav-1). (PMID:26876307)
• Knockdown of Alpha4 preferentially impacts the expression of PP4c and PP6c compared to expression levels of PP2Ac. (PMID:27169767)
• IGBP1 expression was increased in kidneys of lupus nephritis patients. Several genes related to lupus nephritis pathogenesis responded to siRNA-mediated IGBP1 silencing. (PMID:31137925)
• Molecular profiling of thymoma with myasthenia gravis: Risk factors of developing myasthenia gravis in thymoma patients. (PMID:31809976)
• Plasma immunoglobulin binding protein 1 as a predictor of development of lupus nephritis. (PMID:32183589)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	igbp1	ENSDARG00000002184
mus_musculus	Igbp1	ENSMUSG00000031221
rattus_norvegicus	Igbp1	ENSRNOG00000026267
drosophila_melanogaster	Tap42	FBGN0051852
caenorhabditis_elegans		WBGENE00022193

Paralogs (1): IGBP1C (ENSG00000266826)

Protein

Protein identifiers

Immunoglobulin-binding protein 1 — P78318 (reviewed: P78318)

Alternative names: B-cell signal transduction molecule alpha 4, CD79a-binding protein 1, Protein phosphatase 2/4/6 regulatory subunit, Renal carcinoma antigen NY-REN-16

All UniProt accessions (1): P78318

UniProt curated annotations — full annotation on UniProt →

Function. Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits.

Subunit / interactions. Interacts with partially folded PPP2CA, but not with the fully active protein. Interacts with PPP2CB, and with PP4 and PP6. Interacts with MID1 and MID2. Interacts with ubiquitin.

Subcellular location. Cytoplasm.

Tissue specificity. Ubiquitously expressed with highest levels in heart, skeletal muscle and pancreas.

Post-translational modifications. Phosphorylated. Monoubiquitination by MID1 triggers calpain-mediated cleavage and switches IGBP1 activity from protective to destructive.

Disease relevance. Intellectual developmental disorder, X-linked, syndromic 28 (MRXS28) [MIM:300472] An intellectual disability syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Intellectual disability is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The UIM domain is required for protective effect on PP2A.

Similarity. Belongs to the IGBP1/TAP42 family.

RefSeq proteins (4): NP_001357121, NP_001357122, NP_001357123, NP_001542* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007304	TAP46-like	Family
IPR038511	TAP42/TAP46-like_sf	Homologous_superfamily

Pfam: PF04177

UniProt features (29 total): helix 10, mutagenesis site 4, region of interest 4, modified residue 2, compositionally biased region 2, initiator methionine 1, chain 1, sequence variant 1, domain 1, turn 1, strand 1, site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4IYP	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P78318-F1	82.43	0.50

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 255–256 (cleavage; by calpain)

Post-translational modifications (2): 2, 241

Mutagenesis-validated functional residues (4):

Position	Phenotype
155	abolishes interaction with ppp2ca.
158	abolishes interaction with ppp2ca.
162	abolishes interaction with ppp2ca.
214	abolishes interaction with ppp2ca.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 258 (showing top): GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_B_CELL_ACTIVATION, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, MORF_ATRX, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_6, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT, GOBP_RESPONSE_TO_INTERLEUKIN_1

GO Biological Process (10): negative regulation of transcription by RNA polymerase II (GO:0000122), signal transduction (GO:0007165), negative regulation of stress-activated MAPK cascade (GO:0032873), response to tumor necrosis factor (GO:0034612), regulation of dephosphorylation (GO:0035303), intracellular signal transduction (GO:0035556), B cell activation (GO:0042113), regulation of microtubule-based movement (GO:0060632), response to interleukin-1 (GO:0070555), regulation of signal transduction (GO:0009966)

GO Molecular Function (3): protein phosphatase regulator activity (GO:0019888), protein phosphatase 2A binding (GO:0051721), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to cytokine	2
intracellular anatomical structure	2
signal transduction	2
protein phosphatase binding	2
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
regulation of stress-activated MAPK cascade	1
negative regulation of MAPK cascade	1
stress-activated MAPK cascade	1
negative regulation of stress-activated protein kinase signaling cascade	1
dephosphorylation	1
regulation of metabolic process	1
lymphocyte activation	1
microtubule-based movement	1
regulation of microtubule-based process	1
regulation of cell communication	1
regulation of signaling	1
regulation of response to stimulus	1
phosphoprotein phosphatase activity	1
phosphatase regulator activity	1
binding	1
cytoplasm	1

Protein interactions and networks

STRING

1452 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IGBP1	VCAM1	P19320	910
IGBP1	COL4A4	P53420	858
IGBP1	MADCAM1	Q13477	828
IGBP1	PPP6C	O00743	816
IGBP1	CHRNA4	P43681	809
IGBP1	COL4A5	P29400	796
IGBP1	COL4A3	Q01955	777
IGBP1	ITGA4	P13612	755
IGBP1	PPP2CA	P05323	754
IGBP1	ITGB1	P05556	709
IGBP1	CCL25	O15444	683
IGBP1	CHRNB2	P17787	677
IGBP1	TIPRL	O75663	670
IGBP1	CCR9	P51686	666
IGBP1	LAMA4	Q16363	656

IntAct

136 interactions, top by confidence:

A	B	Type	Score
PPP2CA	IGBP1	psi-mi:“MI:0915”(physical association)	0.960
IGBP1	PPP2CA	psi-mi:“MI:0915”(physical association)	0.960
IGBP1	PPP2CA	psi-mi:“MI:0914”(association)	0.960
PPP4C	IGBP1	psi-mi:“MI:0915”(physical association)	0.950
IGBP1	PPP4C	psi-mi:“MI:0915”(physical association)	0.950
IGBP1	PPP6C	psi-mi:“MI:0914”(association)	0.940
PPP6C	IGBP1	psi-mi:“MI:0915”(physical association)	0.940
IGBP1	PPP6C	psi-mi:“MI:0915”(physical association)	0.940
PPP2CB	IGBP1	psi-mi:“MI:0915”(physical association)	0.880
PPP6C	ANKRD28	psi-mi:“MI:0914”(association)	0.870
PPP2CA	STRN	psi-mi:“MI:0914”(association)	0.840
PPP2CB	STRN	psi-mi:“MI:0914”(association)	0.790

BioGRID (262): MID1 (Affinity Capture-Western), PPP2CA (Affinity Capture-Western), MID1 (Affinity Capture-Western), PPP2CA (Affinity Capture-Western), TIPRL (Affinity Capture-Western), IGBP1 (Affinity Capture-Western), IGBP1 (Two-hybrid), IGBP1 (Affinity Capture-Western), IGBP1 (Co-fractionation), IGBP1 (Co-fractionation), SFN (Co-fractionation), TIPRL (Co-fractionation), IGBP1 (Proximity Label-MS), IGBP1 (Proximity Label-MS), CAMK2G (Affinity Capture-MS)

ESM2 similar proteins: A0A1S4D1D3, A0A1W2PR95, A1D9I5, A5D796, A7SD85, B0W6N3, D2K8N5, E1C760, E7EXT2, F7AEX0, O08836, O57476, P51951, P54729, P78318, P92948, Q0CU99, Q16543, Q16891, Q173M7, Q1DM35, Q2PIU8, Q2QY04, Q3ZC62, Q4V8E4, Q4W9M7, Q5AXH3, Q5EAC6, Q5M990, Q5PQS7, Q61081, Q61249, Q63692, Q6PID6, Q7SYB2, Q8C6E0, Q8CAQ8, Q8LDQ4, Q8R3N6, Q93VM9

Diamond homologs: A0A1S4D1D3, D2K8N5, P78318, Q2QY04, Q8LDQ4, A0A1W2PR95, O08836, Q61249, Q9QZ29, Q04372, Q9N4E9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MPG	“down-regulates quantity by destabilization”	IGBP1	monoubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 79 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
Prefoldin mediated transfer of substrate to CCT/TriC	6	57.6×	2e-07
Formation of tubulin folding intermediates by CCT/TriC	5	51.6×	5e-06
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	5	49.7×	5e-06
Chaperonin-mediated protein folding	5	36.6×	2e-05
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	5	36.6×	2e-05
Association of TriC/CCT with target proteins during biosynthesis	5	35.7×	2e-05
Protein folding	5	31.6×	3e-05

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of telomere maintenance via telomerase	5	61.1×	3e-06
protein folding	7	12.1×	2e-04
protein stabilization	7	7.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

89 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	38
Likely benign	4
Benign	8

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
11573	NM_001551.3(IGBP1):c.-57_-55delinsAA	Pathogenic
253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	Pathogenic

SpliceAI

1244 predictions. Top by Δscore:

Variant	Effect	Δscore
X:70134522:GCC:G	acceptor_gain	1.0000
X:70134522:GCCGA:G	acceptor_gain	1.0000
X:70146824:GAGAG:G	donor_gain	1.0000
X:70146825:AGAGG:A	donor_loss	1.0000
X:70146826:GAG:G	donor_gain	1.0000
X:70146826:GAGGT:G	donor_loss	1.0000
X:70146827:AGGTA:A	donor_loss	1.0000
X:70146829:GT:G	donor_loss	1.0000
X:70146830:T:A	donor_loss	1.0000
X:70148836:GCCAA:G	donor_gain	1.0000
X:70148841:G:GG	donor_gain	1.0000
X:70150195:GCGTA:G	acceptor_gain	1.0000
X:70150209:GA:G	acceptor_gain	1.0000
X:70165817:A:AG	acceptor_gain	1.0000
X:70165818:A:G	acceptor_gain	1.0000
X:70165826:A:AG	acceptor_gain	1.0000
X:70165827:C:G	acceptor_gain	1.0000
X:70165831:A:AG	acceptor_gain	1.0000
X:70165831:A:C	acceptor_loss	1.0000
X:70165831:AGAG:A	acceptor_gain	1.0000
X:70165832:G:GA	acceptor_gain	1.0000
X:70165832:GA:G	acceptor_gain	1.0000
X:70165832:GAGG:G	acceptor_gain	1.0000
X:70165832:GAGGA:G	acceptor_gain	1.0000
X:70134072:TGTTC:T	donor_gain	0.9900
X:70134132:TCAGG:T	donor_loss	0.9900
X:70134133:CAGG:C	donor_loss	0.9900
X:70134135:GGTAT:G	donor_loss	0.9900
X:70134136:G:T	donor_loss	0.9900
X:70134137:T:G	donor_loss	0.9900

AlphaMissense

2240 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:70146760:A:C	S204R	0.986
X:70146762:C:A	S204R	0.986
X:70146762:C:G	S204R	0.986
X:70134590:G:A	G86R	0.985
X:70134590:G:C	G86R	0.985
X:70134591:G:A	G86E	0.983
X:70134647:G:C	A105P	0.981
X:70134561:T:C	L76P	0.978
X:70165933:G:C	W324C	0.977
X:70165933:G:T	W324C	0.977
X:70134799:A:C	R155S	0.976
X:70134799:A:T	R155S	0.976
X:70165959:G:A	G333E	0.975
X:70134134:A:C	S63R	0.972
X:70134523:C:A	S63R	0.972
X:70134523:C:G	S63R	0.972
X:70165965:G:C	R335P	0.967
X:70134648:C:A	A105D	0.966
X:70150259:T:A	W270R	0.965
X:70150259:T:C	W270R	0.965
X:70134798:G:C	R155T	0.962
X:70165943:C:G	H328D	0.961
X:70134080:G:C	G45R	0.960
X:70134597:T:C	L88P	0.960
X:70165953:G:A	G331D	0.958
X:70165959:G:T	G333V	0.958
X:70165963:C:A	N334K	0.958
X:70165963:C:G	N334K	0.958
X:70134582:C:A	A83E	0.957
X:70165931:T:A	W324R	0.956

dbSNP variants (sampled 300 via entrez): RS1000069380 (X:70136465 C>A,T), RS1000232609 (X:70162040 G>A), RS1000416679 (X:70163180 A>G), RS1000432414 (X:70162328 C>G), RS1000507391 (X:70145433 A>C), RS1000767552 (X:70159699 C>G), RS1000831562 (X:70137476 G>A), RS1000996765 (X:70156667 C>G,T), RS1001110122 (X:70147539 C>G), RS1001110938 (X:70145105 A>ACCAC), RS1001173689 (X:70136653 C>T), RS1001381583 (X:70146450 C>T), RS1001392398 (X:70136190 T>G), RS1001528911 (X:70155053 A>G), RS1001561289 (X:70147264 T>C)

Disease associations

OMIM: gene MIM:300139 | disease phenotypes: MIM:300472

GenCC curated gene-disease

Disease	Classification	Inheritance
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	Supportive	X-linked

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	Disputed	XL

Mondo (1): corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (MONDO:0010333)

Orphanet (1): Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (Orphanet:52055)

HPO phenotypes

37 total (30 of 37 shown, HPO-id order):

HPO	Term
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000218	High palate
HP:0000256	Macrocephaly
HP:0000278	Retrognathia
HP:0000337	Broad forehead
HP:0000348	High forehead
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000377	Abnormal pinna morphology
HP:0000378	Cupped ear
HP:0000394	Lop ear
HP:0000407	Sensorineural hearing impairment
HP:0000410	Mixed hearing impairment
HP:0000426	Prominent nasal bridge
HP:0000453	Choanal atresia
HP:0000470	Short neck
HP:0000475	Broad neck
HP:0000494	Downslanted palpebral fissures
HP:0000505	Visual impairment
HP:0000588	Optic disc coloboma
HP:0000612	Iris coloboma
HP:0000639	Nystagmus
HP:0000767	Pectus excavatum
HP:0001249	Intellectual disability
HP:0001274	Agenesis of corpus callosum
HP:0001419	X-linked recessive inheritance
HP:0001629	Ventricular septal defect
HP:0001643	Patent ductus arteriosus
HP:0002100	Recurrent aspiration pneumonia

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C564509	Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

36 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
cyanoginosin LR	increases response to substance, affects expression, increases expression, increases phosphorylation, affects binding (+2 more)	3
Valproic Acid	decreases expression, affects cotreatment, increases expression, affects expression	3
bisphenol A	decreases methylation, affects cotreatment, affects methylation, decreases expression	2
Estradiol	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	decreases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	increases expression	1
manganese chloride	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	increases reaction, affects binding	1
K 7174	increases expression	1
ICG 001	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, 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	decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, affects methylation	1
Benzo(a)pyrene	affects methylation	1
Carbamazepine	affects expression	1
Catechin	affects cotreatment, increases expression	1
Cisplatin	increases expression	1
Dinitrochlorobenzene	affects binding	1
Environmental Pollutants	affects expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ethyl Methanesulfonate	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.