DISP2

Summary

DISP2 (dispatched RND transporter family member 2, HGNC:19712) is a protein-coding gene on chromosome 15q15.1, encoding Protein dispatched homolog 2 (A7MBM2).

This gene is one of two human homologs of a segment-polarity gene known as dispatched identified in Drosophila. The product of this gene may be required for normal Hedgehog (Hh) signaling during embryonic pattern formation.

Source: NCBI Gene 85455 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 256 total
• GTEx eGene: eQTL in 47 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.81 (unconstrained)
• MANE Select transcript: NM_033510
• Notable: 256 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19712
Approved symbol	DISP2
Name	dispatched RND transporter family member 2
Location	15q15.1
Locus type	gene with protein product
Status	Approved
Aliases	DISPB, KIAA1742, HsT16908
Ensembl gene	ENSG00000140323
Ensembl biotype	protein_coding
OMIM	607503
Entrez	85455

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

MANE Select: ENST00000267889

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 3: 3

ENST00000267889, ENST00000558623, ENST00000559721, ENST00000561261, ENST00000949524, ENST00000949525

RefSeq mRNA: 1 — MANE Select: NM_033510 NM_033510

CCDS: CCDS10056

Canonical transcript exons

ENST00000267889 — 8 exons

Exon	Start	End
ENSE00000942468	40364838	40364953
ENSE00000942469	40365147	40365274
ENSE00000942470	40365628	40365725
ENSE00000942471	40367058	40378621
ENSE00001099980	40363625	40363954
ENSE00001099989	40364226	40364255
ENSE00001099995	40364421	40364544
ENSE00001100000	40358219	40358440

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 93.86.

FANTOM5 (CAGE): breadth broad, TPM avg 1.7863 / max 155.0087, expressed in 312 samples.

Highest expression (Bgee): cerebellar cortex, cerebellar hemisphere, hemisphere of cerebellum, cerebellum, cerebellar vermis.

Genetic regulation across tissues (GTEx eQTL / sQTL)

DISP2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 47 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 47 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Skin Sun Exposed Lower leg	eqtl	2.2e-89	+1.28	15:40413218:G:A
Skin Not Sun Exposed Suprapubic	eqtl	1.4e-64	+1.20	15:40430582:T:G
Adipose Subcutaneous	eqtl	8.3e-64	+1.12	15:40413218:G:A
Esophagus Muscularis	eqtl	3.7e-63	+1.10	15:40413218:G:A
Cells Cultured fibroblasts	eqtl	2.6e-62	+1.03	15:40413218:G:A
Muscle Skeletal	eqtl	2.8e-62	+1.00	15:40413218:G:A
Adipose Visceral Omentum	eqtl	2.4e-59	+1.15	15:40413218:G:A
Nerve Tibial	eqtl	1.6e-58	+1.12	15:40413218:G:A
Esophagus Mucosa	eqtl	3.6e-57	+1.15	15:40413218:G:A
Breast Mammary Tissue	eqtl	7.8e-48	+1.13	15:40430582:T:G
Testis	eqtl	8.6e-44	+0.95	15:40413218:G:A
Esophagus Gastroesophageal Junction	eqtl	1.1e-43	+1.24	15:40413218:G:A
Lung	eqtl	2.5e-43	+0.93	15:40413218:G:A
Brain Nucleus accumbens basal ganglia	eqtl	2.5e-37	+0.57	15:40363243:C:T
Brain Caudate basal ganglia	eqtl	2.4e-35	+0.60	15:40358201:C:G
Artery Tibial	eqtl	2.5e-35	+0.75	15:40413218:G:A
Brain Putamen basal ganglia	eqtl	2.4e-34	+0.74	15:40358201:C:G
Heart Atrial Appendage	eqtl	4.1e-34	+0.98	15:40413218:G:A
Colon Sigmoid	eqtl	6.0e-34	+0.78	15:40413218:G:A
Pituitary	eqtl	2.4e-33	+0.87	15:40358201:C:G

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
146097	1.2911	204
146096	0.4952	174

Top tissues by expression

showing 100 of 254 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cerebellar cortex	UBERON:0002129	93.86	gold quality
cerebellar hemisphere	UBERON:0002245	93.84	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.68	gold quality
cerebellum	UBERON:0002037	93.49	gold quality
cerebellar vermis	UBERON:0004720	92.05	gold quality
cortical plate	UBERON:0005343	91.15	gold quality
right frontal lobe	UBERON:0002810	87.38	gold quality
prefrontal cortex	UBERON:0000451	86.37	gold quality
hypothalamus	UBERON:0001898	86.25	gold quality
right lobe of thyroid gland	UBERON:0001119	86.14	gold quality
Brodmann (1909) area 9	UBERON:0013540	85.88	gold quality
anterior cingulate cortex	UBERON:0009835	85.77	gold quality
frontal cortex	UBERON:0001870	85.41	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	85.31	gold quality
neocortex	UBERON:0001950	85.27	gold quality
sural nerve	UBERON:0015488	85.03	gold quality
ileal mucosa	UBERON:0000331	84.78	gold quality
amygdala	UBERON:0001876	84.68	gold quality
cerebral cortex	UBERON:0000956	84.43	gold quality
embryo	UBERON:0000922	84.42	gold quality
ganglionic eminence	UBERON:0004023	84.42	gold quality
middle temporal gyrus	UBERON:0002771	83.24	gold quality
temporal lobe	UBERON:0001871	83.14	gold quality
Ammon’s horn	UBERON:0001954	82.84	gold quality
brain	UBERON:0000955	82.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.26	gold quality
superior frontal gyrus	UBERON:0002661	82.26	gold quality
entorhinal cortex	UBERON:0002728	82.23	gold quality
left lobe of thyroid gland	UBERON:0001120	81.88	gold quality
primary visual cortex	UBERON:0002436	81.77	gold quality
forebrain	UBERON:0001890	81.72	gold quality
nucleus accumbens	UBERON:0001882	80.08	gold quality
postcentral gyrus	UBERON:0002581	79.95	gold quality
thyroid gland	UBERON:0002046	79.81	gold quality
caudate nucleus	UBERON:0001873	79.02	gold quality
parietal lobe	UBERON:0001872	78.75	gold quality
occipital lobe	UBERON:0002021	78.33	gold quality
Brodmann (1909) area 23	UBERON:0013554	78.32	gold quality
putamen	UBERON:0001874	77.82	gold quality
substantia nigra	UBERON:0002038	77.59	gold quality
Brodmann (1909) area 46	UBERON:0006483	77.24	gold quality
adenohypophysis	UBERON:0002196	76.98	gold quality
islet of Langerhans	UBERON:0000006	76.52	gold quality
midbrain	UBERON:0001891	76.26	gold quality
pituitary gland	UBERON:0000007	75.53	gold quality
mucosa of transverse colon	UBERON:0004991	74.49	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	74.46	gold quality
ventricular zone	UBERON:0003053	73.64	gold quality
spinal cord	UBERON:0002240	73.54	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.46	gold quality
rectum	UBERON:0001052	73.36	gold quality
mucosa of sigmoid colon	UBERON:0004993	72.33	gold quality
transverse colon	UBERON:0001157	72.09	gold quality
endothelial cell	CL:0000115	71.78	silver quality
colonic mucosa	UBERON:0000317	71.78	gold quality
pancreatic ductal cell	CL:0002079	69.44	silver quality
apex of heart	UBERON:0002098	69.23	gold quality
small intestine Peyer’s patch	UBERON:0003454	69.19	gold quality
ventral tegmental area	UBERON:0002691	68.83	gold quality
substantia nigra pars compacta	UBERON:0001965	68.33	gold quality
secondary oocyte	CL:0000655	68.20	silver quality
small intestine	UBERON:0002108	68.00	gold quality
dorsal root ganglion	UBERON:0000044	67.98	gold quality
colon	UBERON:0001155	67.59	gold quality
large intestine	UBERON:0000059	67.49	gold quality
intestine	UBERON:0000160	67.35	gold quality
duodenum	UBERON:0002114	67.27	gold quality
trigeminal ganglion	UBERON:0001675	66.87	gold quality
oocyte	CL:0000023	66.28	gold quality
adult organism	UBERON:0007023	66.09	gold quality
pancreas	UBERON:0001264	65.53	gold quality
pons	UBERON:0000988	65.23	gold quality
lymph node	UBERON:0000029	64.94	gold quality
superior vestibular nucleus	UBERON:0007227	64.75	gold quality
bone marrow cell	CL:0002092	64.63	silver quality
medulla oblongata	UBERON:0001896	64.60	gold quality
body of stomach	UBERON:0001161	64.42	gold quality
substantia nigra pars reticulata	UBERON:0001966	64.11	silver quality
granulocyte	CL:0000094	63.38	gold quality
smooth muscle tissue	UBERON:0001135	62.79	gold quality
lateral nuclear group of thalamus	UBERON:0002736	62.71	silver quality
corpus callosum	UBERON:0002336	62.56	gold quality
vermiform appendix	UBERON:0001154	62.24	gold quality
stomach	UBERON:0000945	62.19	gold quality
lower esophagus mucosa	UBERON:0035834	62.18	gold quality
mucosa of stomach	UBERON:0001199	62.06	gold quality
dorsal plus ventral thalamus	UBERON:0001897	62.05	silver quality
muscle layer of sigmoid colon	UBERON:0035805	61.80	gold quality
right testis	UBERON:0004534	61.72	gold quality
left testis	UBERON:0004533	61.60	gold quality
testis	UBERON:0000473	61.57	gold quality
body of pancreas	UBERON:0001150	61.06	gold quality
caecum	UBERON:0001153	60.63	gold quality
tibialis anterior	UBERON:0001385	59.99	silver quality
colonic epithelium	UBERON:0000397	59.53	gold quality
anatomical system	UBERON:0000467	59.53	gold quality
subthalamic nucleus	UBERON:0001906	59.21	silver quality
multicellular organism	UBERON:0000468	59.20	gold quality
material anatomical entity	UBERON:0000465	59.19	gold quality
thymus	UBERON:0002370	59.09	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	13.30
E-ANND-3	yes	6.24
E-GEOD-109979	no	59.31

HPA expression

RNA tissue specificity: Tissue enriched

showing 60 of 70 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Frontal cortex	tissue	79.4
Caudate putamen	tissue	49.4
Cerebellum	tissue	40.8
Postcentral gyrus	tissue	24.4
Hippocampal formation	tissue	21.6
Prefrontal cortex	tissue	19.9
Cerebral cortex	tissue	19.9
Locus coeruleus	tissue	18.5
Motor cortex	tissue	17.8
Retrosplenial and cingulate cortex	tissue	17.7
Insular cortex	tissue	17.7
Entorhinal cortex	tissue	17.4
Hippocampus	tissue	16.9
Somatosensory cortex	tissue	16.9
Retrosplenial cortex	tissue	16.9
Occipital cortex	tissue	15.2
Temporal cortex	tissue	14.0
Amygdala	tissue	13.5
Nucleus accumbens	tissue	12.1
Hypothalamus	tissue	10.5
Basal ganglia	tissue	9.8
Pons	tissue	8.9
Septum	tissue	8.5
Olfactory bulb	tissue	8.4
Ventral forebrain	tissue	8.2
Putamen	tissue	7.9
Thalamus	tissue	7.8
Midbrain	tissue	7.1
Substantia nigra	tissue	6.8
Periaqueductal gray	tissue	6.1
Superior colliculi	tissue	5.0
Medulla oblongata	tissue	4.2
Spinal cord	tissue	2.9
Choroid plexus	tissue	2.6
Corpus callosum	tissue	2.5
Retina	tissue	1.4
Pituitary gland	tissue	1.2
Colon	tissue	1.2
Stomach 1	tissue	1.1
Rectum	tissue	1.1
Thyroid gland	tissue	1.0
Duodenum	tissue	1.0
Small intestine	tissue	0.8
Testis	tissue	0.6
Adrenal gland	tissue	0.6
Seminal vesicle	tissue	0.4
Lymph node	tissue	0.3
Smooth muscle	tissue	0.3
Pancreas	tissue	0.3
Appendix	tissue	0.3
Skin 1	tissue	0.2
Salivary gland	tissue	0.2
Placenta	tissue	0.2
Spleen	tissue	0.2
Gallbladder	tissue	0.2
Bone marrow	tissue	0.2
Fallopian tube	tissue	0.2
Cervix	tissue	0.1
Heart muscle	tissue	0.1
Ovary	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — Cerebellar cortex (49.5), Vermis (48.8), Flocculonodular lobe (48.5), Ventral periolivary nuclei (24.9), Nuclei of the trapezoid body (24.6).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting DISP2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 50 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-12132	99.47	68.90	1341
HSA-MIR-4641	99.28	66.64	744
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-3922-3P	99.25	64.96	1136

Functional genomics

gnomAD constraint: pLI 1.1e-12, LOEUF 0.813, missense Z 0.285 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000267889 splits into 5 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
15:40,358,322–40,365,263	342 / 364.3	0.94	no
15:40,365,264–40,365,703	14 / 36.6	0.38	no
15:40,365,704–40,368,593	732 / 714.6	1.02	no
15:40,368,594–40,369,512	317 / 394.9	0.80	no
15:40,369,513–40,370,315	347 / 344.2	1.01	no

Literature-anchored findings (GeneRIF, showing 1)

• A Hypermutable Region in the DISP2 Gene Links to Natural Selection and Late-Onset Neurocognitive Disorders in Humans. (PMID:38565786)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	disp2	ENSDARG00000042846
mus_musculus	Disp2	ENSMUSG00000040035
rattus_norvegicus	Disp2	ENSRNOG00000026787
drosophila_melanogaster	ptc	FBGN0003892
drosophila_melanogaster	disp	FBGN0029088
drosophila_melanogaster	Ptr	FBGN0262867
caenorhabditis_elegans		WBGENE00004208
caenorhabditis_elegans		WBGENE00004211
caenorhabditis_elegans	ptr-17	WBGENE00004231

Paralogs (10): NPC1L1 (ENSG00000015520), SCAP (ENSG00000114650), PTCH2 (ENSG00000117425), NPC1 (ENSG00000141458), DISP1 (ENSG00000154309), PTCHD1 (ENSG00000165186), PTCHD3 (ENSG00000182077), PTCH1 (ENSG00000185920), DISP3 (ENSG00000204624), PTCHD4 (ENSG00000244694)

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
INAFM2	protein-coding	100505573
CCDC9B	protein-coding	388115
PHGR1	protein-coding	644844
IVD	protein-coding	3712
KNSTRN	protein-coding	90417
BAHD1	protein-coding	22893
CHST14	protein-coding	113189

Protein

Protein identifiers

Protein dispatched homolog 2 — A7MBM2 (reviewed: A7MBM2)

All UniProt accessions (1): A7MBM2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the dispatched family.

RefSeq proteins (1): NP_277045* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000731	SSD	Domain
IPR052081	Dispatched	Family

UniProt features (37 total): transmembrane region 12, region of interest 6, sequence variant 5, compositionally biased region 4, sequence conflict 4, glycosylation site 3, chain 1, domain 1, modified residue 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A7MBM2-F1	68.24	0.27

Human Protein Atlas

Protein class: Predicted membrane proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; vesicles

Antibody reliability (HPA): IH uncertain · IF approved

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)

Type	Positions
Omega-n-methylarginine	1366

Glycosylation sites (3)

Type	Positions
N-linked (glcnac…) asparagine	239, 349, 465

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

4 pathways:

ID	Pathway	Evidence
R-HSA-5358346	Hedgehog ligand biogenesis	—
R-HSA-5362798	Release of Hh-Np from the secreting cell	electronic
R-HSA-162582	Signal Transduction	—
R-HSA-5358351	Signaling by Hedgehog	—

MSigDB gene sets: 52 (showing top): GOBP_SMOOTHENED_SIGNALING_PATHWAY, GCCATNTTG_YY1_Q6, LEIN_NEURON_MARKERS, GSE13762_CTRL_VS_125_VITAMIND_DAY5_DC_DN, GSE13522_WT_VS_IFNG_KO_SKIN_DN, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_DN, WAKABAYASHI_ADIPOGENESIS_PPARG_BOUND_36HR, WAKABAYASHI_ADIPOGENESIS_PPARG_BOUND_8D, SRC_UP.V1_DN, REACTOME_HEDGEHOG_LIGAND_BIOGENESIS, REACTOME_SIGNALING_BY_HEDGEHOG, REACTOME_RELEASE_OF_HH_NP_FROM_THE_SECRETING_CELL, NRF1_Q6, GSE14415_ACT_TCONV_VS_ACT_NATURAL_TREG_UP, GSE14415_FOXP3_KO_NATURAL_TREG_VS_TCONV_UP

GO Biological Process (1): smoothened signaling pathway (GO:0007224)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

3 top-level categories:

Category	Pathways
Hedgehog ligand biogenesis	1
Signaling by Hedgehog	1
Signal Transduction	1

GO top-level categories

4 GO namespaces:

Category	Terms
cell surface receptor signaling pathway	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

showing 15 of 398 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DISP2	SHH	Q15465	632
DISP2	PTCH1	Q13635	556
DISP2	DISP3	Q9P2K9	514
DISP2	MAP6D1	Q9H9H5	476
DISP2	COMTD1	Q86VU5	468
DISP2	LIX1L	Q8IVB5	465
DISP2	PAXBP1	Q9Y5B6	464
DISP2	DUS2	Q9NX74	458
DISP2	COPRS	Q9NQ92	447
DISP2	RASSF2	P50749	446
DISP2	TMC4	Q7Z404	446
DISP2	FAM185A	Q8N0U4	436
DISP2	PGCKA1	Q8IY42	406
DISP2	PTCH2	Q9Y6C5	399
DISP2	SUFU	Q9UMX1	394

IntAct

Human interaction partners of DISP2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
CACNA1C	association	0.350	1

BioGRID (3 interactions; top human partners by supporting records): DDX39A (Affinity Capture-RNA), KIAA1429 (Affinity Capture-RNA), TOP3B (Affinity Capture-RNA)

Disease & clinical

Genetic variants

Variant evidence for DISP2: 256 ClinVar records (0 pathogenic / likely pathogenic); 4 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	236
Likely benign	9
Benign	1

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 44 predictions of 668):

Position(s)	Effect	Δscore	Sites
15:40364419–40364420	acceptor_loss	1.0000	6
15:40364545–40364546	donor_loss	1.0000	5
15:40358387	donor_gain	0.9900
15:40358441–40358442	donor_loss	0.9900	5
15:40363955–40363956	donor_loss	0.9900	5
15:40358442	donor_loss	0.9800
15:40363623–40363624	acceptor_loss	0.9800	6
15:40364224–40364225	acceptor_loss	0.9800	6
15:40364836–40364837	acceptor_loss	0.9800	5
15:40365145–40365146	acceptor_loss	0.9800	4

AlphaMissense

2,072 missense substitutions predicted likely pathogenic (of 9,002 scored), across 612 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F420	8	0.959	0.995
D417	8	0.953	0.989
F757	8	0.950	0.994
F702	8	0.936	0.990
F740	8	0.924	0.975
D488	8	0.919	0.972
F691	8	0.907	0.959
F291	8	0.902	0.993
F759	8	0.902	0.981
F710	8	0.900	0.973
F801	8	0.900	0.977
F746	8	0.879	0.965
F907	8	0.874	0.979
F1107	8	0.868	0.958
F203	8	0.847	0.957
F439	8	0.837	0.979
S1183	8	0.830	0.986
F540	8	0.829	0.935
D360	8	0.827	0.951
D1031	8	0.820	0.911

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Pancreatic Adenocarcinoma (validation)	unfavorable	0.000163
Glioblastoma Multiforme (validation)	favorable	0.000715

Disease associations

OMIM: gene MIM:607503 | disease phenotypes:

GWAS associations

4 associations:

Study	Trait	p-value
GCST006479_26	Diverticular disease	9e-11
GCST010725_98	Malaria	2e-6
GCST010725_13	Malaria	3e-6
GCST010725_30	Malaria	7e-6

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0009959	diverticular disease

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation	2
Cadmium Chloride	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
aminomethylphosphonic acid (AMPA)	decreases expression	1
bisphenol A	increases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	affects expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
abrine	decreases expression	1
(+)-JQ1 compound	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
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Estradiol	affects cotreatment, increases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression, affects cotreatment	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	increases expression	1
Tunicamycin	decreases expression	1
2,4-Dichlorophenoxyacetic Acid	decreases expression	1
Copper Sulfate	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.