YIF1B

Summary

YIF1B (Yip1 interacting factor homolog B, membrane trafficking protein, HGNC:30511) is a protein-coding gene on chromosome 19q13.2, encoding Protein YIF1B (Q5BJH7). Functions in endoplasmic reticulum to Golgi vesicle-mediated transport and regulates the proper organization of the endoplasmic reticulum and the Golgi.

Involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment.

Source: NCBI Gene 90522 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Kaya-Barakat-Masson syndrome (Definitive, ClinGen)
• Clinical variants (ClinVar): 86 total — 8 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 23
• Druggable target: yes
• MANE Select transcript: NM_001039672

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30511
Approved symbol	YIF1B
Name	Yip1 interacting factor homolog B, membrane trafficking protein
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	FinGER8
Ensembl gene	ENSG00000167645
Ensembl biotype	protein_coding
OMIM	619109
Entrez	90522

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000329420, ENST00000337679, ENST00000339413, ENST00000392124, ENST00000585563, ENST00000586319, ENST00000587039, ENST00000587361, ENST00000588002, ENST00000589151, ENST00000589247, ENST00000589644, ENST00000591755, ENST00000591784, ENST00000592246, ENST00000592694, ENST00000881546, ENST00000927749

RefSeq mRNA: 6 — MANE Select: NM_001039672 NM_001039671, NM_001039672, NM_001039673, NM_001145461, NM_001145462, NM_001145463

CCDS: CCDS12512, CCDS33010, CCDS46066, CCDS46067

Canonical transcript exons

ENST00000339413 — 8 exons

Exon	Start	End
ENSE00001115193	38307597	38307752
ENSE00001412301	38315860	38315947
ENSE00002936261	38303558	38305507
ENSE00003478457	38309405	38309643
ENSE00003533740	38308792	38308849
ENSE00003661245	38308979	38309057
ENSE00003786286	38307428	38307521
ENSE00003790084	38309224	38309328

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 95.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.9482 / max 461.6473, expressed in 1820 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180766	29.5146	1813
180764	17.1948	1782
180765	1.4258	889
180763	0.4142	77
180762	0.3987	78

Top tissues by expression

282 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	95.00	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.63	gold quality
stromal cell of endometrium	CL:0002255	94.58	gold quality
granulocyte	CL:0000094	94.23	gold quality
mononuclear cell	CL:0000842	93.98	gold quality
leukocyte	CL:0000738	93.83	gold quality
prefrontal cortex	UBERON:0000451	93.70	gold quality
mucosa of transverse colon	UBERON:0004991	93.61	gold quality
apex of heart	UBERON:0002098	93.56	gold quality
right frontal lobe	UBERON:0002810	93.53	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.95	gold quality
anterior cingulate cortex	UBERON:0009835	92.63	gold quality
cingulate cortex	UBERON:0003027	92.55	gold quality
cortical plate	UBERON:0005343	92.45	gold quality
spinal cord	UBERON:0002240	92.29	gold quality
cerebellar hemisphere	UBERON:0002245	92.16	gold quality
cerebellar cortex	UBERON:0002129	91.92	gold quality
right lobe of liver	UBERON:0001114	91.56	gold quality
ectocervix	UBERON:0012249	91.49	gold quality
spleen	UBERON:0002106	91.36	gold quality
upper lobe of left lung	UBERON:0008952	91.30	gold quality
left coronary artery	UBERON:0001626	91.25	gold quality
ascending aorta	UBERON:0001496	91.18	gold quality
right adrenal gland	UBERON:0001233	91.10	gold quality
thoracic aorta	UBERON:0001515	91.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.85	gold quality
adenohypophysis	UBERON:0002196	90.81	gold quality
tibial nerve	UBERON:0001323	90.72	gold quality
left adrenal gland	UBERON:0001234	90.69	gold quality
caudate nucleus	UBERON:0001873	90.69	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	6772.67
E-ANND-3	yes	15.67
E-MTAB-9067	yes	10.72

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. (PMID:32006098)
• Prognostic and immune regulating roles of YIF1B in Pan-Cancer: a potential target for both survival and therapy response evaluation. (PMID:32648580)
• YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations. (PMID:33103737)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	yif1b	ENSDARG00000040505
mus_musculus	Yif1b	ENSMUSG00000030588
rattus_norvegicus	Yif1b	ENSRNOG00000055286
drosophila_melanogaster	Yif1	FBGN0288631
caenorhabditis_elegans		WBGENE00010178

Paralogs (1): YIF1A (ENSG00000174851)

Protein

Protein identifiers

Protein YIF1B — Q5BJH7 (reviewed: Q5BJH7)

Alternative names: YIP1-interacting factor homolog B

All UniProt accessions (5): Q5BJH7, K7EJQ6, K7EPQ7, K7ERQ0, K7ERY2

UniProt curated annotations — full annotation on UniProt →

Function. Functions in endoplasmic reticulum to Golgi vesicle-mediated transport and regulates the proper organization of the endoplasmic reticulum and the Golgi. Plays a key role in targeting to neuronal dendrites receptors such as HTR1A. Plays also a role in primary cilium and sperm flagellum assembly probably through protein transport to these compartments.

Subunit / interactions. Interacts with HTR1A (via C-terminus). Interacts with ABCB9 (via TMD0); this interaction allows (but is not essential) the ER-to-Golgi trafficking and strongly depends on a salt bridge within TMD0.

Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane.

Disease relevance. Kaya-Barakat-Masson syndrome (KABAMAS) [MIM:619125] An autosomal recessive neurodevelopmental disorder characterized by impaired intellectual development, absent speech, hypotonia, profound developmental and motor delay with dystonia, poor coordination and spasticity, and visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the YIF1 family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q5BJH7-1	1	yes
Q5BJH7-2	2
Q5BJH7-3	3
Q5BJH7-4	4
Q5BJH7-5	5
Q5BJH7-6	6

RefSeq proteins (6): NP_001034760, NP_001034761, NP_001034762, NP_001138933, NP_001138934, NP_001138935 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005578	Yif1_fam	Family

Pfam: PF03878

UniProt features (28 total): splice variant 7, topological domain 6, transmembrane region 5, modified residue 3, sequence variant 3, compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5BJH7-F1	73.67	0.37

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 (3): 1, 13, 65

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 167 (showing top): GOBP_PROTEIN_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MALE_GAMETE_GENERATION, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, KOYAMA_SEMA3B_TARGETS_UP, GOBP_CILIUM_ORGANIZATION, GOCC_COATED_VESICLE, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MOTILE_CILIUM_ASSEMBLY

GO Biological Process (5): protein targeting to membrane (GO:0006612), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), protein transport (GO:0015031), sperm flagellum assembly (GO:0120316), cilium assembly (GO:0060271)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), COPII-coated ER to Golgi transport vesicle (GO:0030134), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	4
intracellular membrane-bounded organelle	3
bounding membrane of organelle	2
endomembrane system	2
protein targeting	1
establishment of protein localization to membrane	1
intercellular transport	1
intracellular transport	1
Golgi vesicle transport	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
developmental process involved in reproduction	1
spermatid development	1
flagellated sperm motility	1
motile cilium assembly	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
binding	1
Golgi apparatus	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
coated vesicle	1
endoplasmic reticulum-Golgi intermediate compartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

682 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
YIF1B	MDC1	Q14676	751
YIF1B	YIPF7	Q8N8F6	623
YIF1B	YIPF5	Q969M3	584
YIF1B	RNF8	O76064	507
YIF1B	RABAC1	Q9UI14	502
YIF1B	RAB1A	P11476	500
YIF1B	YIPF4	Q9BSR8	461
YIF1B	STYXL2	Q5VZP5	454
YIF1B	DERL2	Q9GZP9	446
YIF1B	YIPF6	Q96EC8	442
YIF1B	RNF168	Q8IYW5	431
YIF1B	YIPF2	Q9BWQ6	416
YIF1B	DPY19L4	Q7Z388	381
YIF1B	FAM98C	Q17RN3	380
YIF1B	YIPF3	Q9GZM5	378

IntAct

100 interactions, top by confidence:

A	B	Type	Score
ESYT1	ESYT2	psi-mi:“MI:0914”(association)	0.770
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
POMK	LRP5	psi-mi:“MI:0914”(association)	0.640
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
SLC1A1	AGPAT2	psi-mi:“MI:0914”(association)	0.640
YIF1B	GPR35	psi-mi:“MI:0915”(physical association)	0.550
CCR6	PODXL	psi-mi:“MI:0914”(association)	0.530
ATP5F1B	SCAMP2	psi-mi:“MI:0914”(association)	0.530
LDLRAD1	ADAM10	psi-mi:“MI:0914”(association)	0.530
SLC6A15	CLGN	psi-mi:“MI:0914”(association)	0.530
GPR37	YIF1B	psi-mi:“MI:0915”(physical association)	0.510
YIF1B	GPR37	psi-mi:“MI:0915”(physical association)	0.510
YIF1B	CKAP4	psi-mi:“MI:0915”(physical association)	0.500
YIF1B	LTB4R2	psi-mi:“MI:0915”(physical association)	0.370
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
P2RY6	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC15A3		psi-mi:“MI:0914”(association)	0.350
UNC93B1		psi-mi:“MI:0914”(association)	0.350
P2RY6		psi-mi:“MI:0914”(association)	0.350
P2RY6	RAVER1	psi-mi:“MI:0914”(association)	0.350
	AP3B1	psi-mi:“MI:0914”(association)	0.350
	DENND11	psi-mi:“MI:0914”(association)	0.350
rep	GPR89A	psi-mi:“MI:0914”(association)	0.350
DERL1	ESYT2	psi-mi:“MI:0914”(association)	0.350
M	TM9SF1	psi-mi:“MI:0914”(association)	0.350

BioGRID (134): YIF1B (Affinity Capture-MS), YIF1B (Affinity Capture-MS), YIF1B (Affinity Capture-MS), MYO18A (Affinity Capture-MS), YIF1B (Proximity Label-MS), YIF1B (Affinity Capture-MS), YIF1B (Affinity Capture-MS), YIF1B (Affinity Capture-MS), CKAP4 (Affinity Capture-MS), MYO18A (Affinity Capture-MS), YIF1B (Affinity Capture-MS), YIF1B (Affinity Capture-RNA), YIF1B (Affinity Capture-MS), YIF1B (Affinity Capture-MS), YIF1B (Affinity Capture-MS)

ESM2 similar proteins: A2YMP7, A4RE85, B2WCU2, B3M9W1, B3NDM7, B4GRI8, B4HIJ8, B4J043, B4L0H1, B4LIH0, B4MXW6, B4PD01, B4QLP9, O14828, O35609, O95070, P87148, Q0JAI9, Q0UUE1, Q1E5A9, Q29BL9, Q3T196, Q4FZQ0, Q58DR5, Q5APC0, Q5BJH7, Q5RBL0, Q5U3G6, Q60EA5, Q6GN58, Q6P301, Q6P6G5, Q6PC24, Q6Z8F5, Q75IC7, Q7F613, Q7SDN3, Q8H5X5, Q8MRQ4, Q91VU1

Diamond homologs: O95070, P53845, P87148, Q3T196, Q4FZQ0, Q5BJH7, Q5U3G6, Q6GN58, Q6P301, Q6PC24, Q6PEC3, Q91XB7, Q9CX30

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
YIF1B	“up-regulates activity”	HTR1A	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 125 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
Formation of ATP by chemiosmotic coupling	5	34.0×	8e-05
Cristae formation	5	20.6×	3e-04
SLC transporter disorders	5	12.1×	2e-03
Chemokine receptors bind chemokines	5	11.1×	2e-03
Mitochondrial biogenesis	5	10.0×	4e-03
Disorders of transmembrane transporters	5	8.3×	7e-03
Class A/1 (Rhodopsin-like receptors)	9	8.0×	2e-04
R-HSA-425393	5	7.7×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
proton motive force-driven ATP synthesis	5	36.8×	5e-05
proton motive force-driven mitochondrial ATP synthesis	5	12.1×	3e-03
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	6	12.1×	1e-03
transport across blood-brain barrier	7	11.5×	4e-04
positive regulation of cytosolic calcium ion concentration	10	10.7×	2e-05
cell chemotaxis	5	8.5×	1e-02
calcium-mediated signaling	5	8.4×	1e-02
adenylate cyclase-activating G protein-coupled receptor signaling pathway	7	7.3×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	1
Uncertain significance	52
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
3778223	NM_001039672.3(YIF1B):c.250del (p.Tyr84fs)	Pathogenic
4292968	NM_001039672.3(YIF1B):c.297+1G>A	Pathogenic
985308	NM_001039672.3(YIF1B):c.186dup (p.Ala63fs)	Pathogenic
988950	NM_001039672.3(YIF1B):c.360_361insACAT (p.Gly121fs)	Pathogenic
988951	NM_001039672.3(YIF1B):c.598G>T (p.Glu200Ter)	Pathogenic
988952	NM_001039672.3(YIF1B):c.539+1G>A	Pathogenic
988954	NM_001039672.3(YIF1B):c.367A>C (p.Lys123Gln)	Pathogenic
988955	NM_001039672.3(YIF1B):c.696-2A>C	Pathogenic
3771920	NM_001039672.3(YIF1B):c.695+1G>A	Likely pathogenic

SpliceAI

1739 predictions. Top by Δscore:

Variant	Effect	Δscore
19:38304373:A:AG	acceptor_gain	1.0000
19:38304374:G:GG	acceptor_gain	1.0000
19:38304687:GTAA:G	donor_loss	1.0000
19:38304828:T:TA	acceptor_gain	1.0000
19:38305503:CGGAT:C	acceptor_gain	1.0000
19:38305505:GAT:G	acceptor_gain	1.0000
19:38305506:AT:A	acceptor_gain	1.0000
19:38305508:C:CC	acceptor_gain	1.0000
19:38305508:CT:C	acceptor_loss	1.0000
19:38307517:TCATC:T	acceptor_gain	1.0000
19:38307518:CATCC:C	acceptor_gain	1.0000
19:38307519:ATCCT:A	acceptor_loss	1.0000
19:38307520:TC:T	acceptor_gain	1.0000
19:38307521:CC:C	acceptor_gain	1.0000
19:38307521:CCTG:C	acceptor_loss	1.0000
19:38307522:C:CC	acceptor_gain	1.0000
19:38307522:C:G	acceptor_loss	1.0000
19:38307523:T:G	acceptor_loss	1.0000
19:38307593:TCAC:T	donor_loss	1.0000
19:38307594:CA:C	donor_loss	1.0000
19:38307595:A:AC	donor_gain	1.0000
19:38307595:AC:A	donor_gain	1.0000
19:38307595:ACC:A	donor_gain	1.0000
19:38307596:C:A	donor_loss	1.0000
19:38307596:C:CC	donor_gain	1.0000
19:38307596:CC:C	donor_gain	1.0000
19:38307596:CCC:C	donor_gain	1.0000
19:38307596:CCCG:C	donor_gain	1.0000
19:38307596:CCCGA:C	donor_gain	1.0000
19:38307749:GAAC:G	acceptor_gain	1.0000

AlphaMissense

2017 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:38307749:G:C	F181L	0.999
19:38307749:G:T	F181L	0.999
19:38307751:A:G	F181L	0.999
19:38309052:C:A	W136C	0.999
19:38309052:C:G	W136C	0.999
19:38309257:C:A	K123N	0.999
19:38309257:C:G	K123N	0.999
19:38309287:A:C	F113L	0.999
19:38309287:A:T	F113L	0.999
19:38309289:A:G	F113L	0.999
19:38307750:A:C	F181C	0.998
19:38308990:A:G	L157P	0.998
19:38309017:G:T	P148H	0.998
19:38309279:T:A	D116V	0.998
19:38309460:G:T	A81D	0.998
19:38305392:G:C	P302R	0.997
19:38305392:G:T	P302H	0.997
19:38307621:G:T	A224D	0.997
19:38307671:G:C	S207R	0.997
19:38307671:G:T	S207R	0.997
19:38307673:T:G	S207R	0.997
19:38307719:G:C	S191R	0.997
19:38307719:G:T	S191R	0.997
19:38307721:T:G	S191R	0.997
19:38307750:A:G	F181S	0.997
19:38308844:C:G	A163P	0.997
19:38308981:G:C	P160R	0.997
19:38308981:G:T	P160Q	0.997
19:38308984:A:T	I159N	0.997
19:38309054:A:G	W136R	0.997

dbSNP variants (sampled 300 via entrez): RS1000039999 (19:38311827 A>G), RS1000094952 (19:38312057 C>A,T), RS1000276430 (19:38310597 AG>A,AGG), RS1000308085 (19:38322165 G>T), RS1000387631 (19:38317897 A>C), RS1000814974 (19:38316043 C>G,T), RS1000835862 (19:38319235 A>T), RS1001437117 (19:38306842 C>G), RS1001638878 (19:38315977 C>T), RS1001764678 (19:38321396 C>A), RS1001786620 (19:38320869 G>A,T), RS1001943255 (19:38304813 C>T), RS1002020782 (19:38309669 G>C), RS1002037652 (19:38308112 A>T), RS1002103477 (19:38314351 C>A,G,T)

Disease associations

OMIM: gene MIM:619109 | disease phenotypes: MIM:619125

GenCC curated gene-disease

Disease	Classification	Inheritance
Kaya-Barakat-Masson syndrome	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Kaya-Barakat-Masson syndrome	Definitive	AR

Mondo (1): Kaya-Barakat-Masson syndrome (MONDO:0030878)

Orphanet (1): Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome (Orphanet:684240)

HPO phenotypes

23 total (23 of 23 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000737	Irritability
HP:0000750	Delayed speech and language development
HP:0001250	Seizure
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001290	Generalized hypotonia
HP:0001511	Intrauterine growth retardation
HP:0002059	Cerebral atrophy
HP:0002079	Hypoplasia of the corpus callosum
HP:0002451	Limb dystonia
HP:0002510	Spastic tetraplegia
HP:0002650	Scoliosis
HP:0003429	CNS hypomyelination
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0008872	Feeding difficulties in infancy
HP:0008936	Axial hypotonia
HP:0032989	Delayed ability to roll over
HP:0100660	Dyskinesia
HP:0100704	Cerebral visual impairment

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5465315 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression, increases expression	3
Valproic Acid	increases expression, increases methylation	3
sodium arsenite	increases abundance, increases expression	2
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
manganese chloride	increases abundance, increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
bisphenol S	increases expression	1
jinfukang	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Arsenic	increases abundance, increases expression	1
Coal	increases abundance, increases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	increases abundance, increases expression	1
Tretinoin	decreases expression	1
Cyclosporine	increases expression	1
Sodium Selenite	decreases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1
Permethrin	increases 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
CHEMBL5338458	Binding	Binding affinity to Yif1b (unknown origin) assessed as fold change in protein upregulation at 200 uM preincubated for 2 hrs followed by pronase addition and measured after 30 mins by coomassie blue staining based SDS-PAGE gel analysis	Structurally Diverse Alkaloids with Anti-Renal-Fibrosis Activity from the Centipede Scolopendra subspinipes mutilans. — J Nat Prod

Clinical trials (associated diseases)

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