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): 255 total
• MANE Select transcript: NM_033510

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

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.

FANTOM5 promoters (2 alternative TSS)

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

Top tissues by expression

254 total, 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

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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

50 targeting DISP2, 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-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

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)

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_Hh_regulator	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

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

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

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): 1366

Glycosylation sites (3): 239, 349, 465

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5362798	Release of Hh-Np from the secreting cell

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 Molecular Function (0):

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

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Hedgehog ligand biogenesis	1

GO top-level categories

Rollup of top GO terms by namespace:

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

Protein interactions and networks

STRING

738 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DISP2	SHH	Q15465	643
DISP2	PTCH1	Q13635	589
DISP2	FAM185A	Q8N0U4	506
DISP2	MAP6D1	Q9H9H5	493
DISP2	PAXBP1	Q9Y5B6	479
DISP2	COMTD1	Q86VU5	478
DISP2	DUS2	Q9NX74	467
DISP2	COPRS	Q9NQ92	456
DISP2	PTCH2	Q9Y6C5	454
DISP2	TMC4	Q7Z404	453
DISP2	LIX1L	Q8IVB5	428
DISP2	SUFU	Q9UMX1	418
DISP2	DHH	O43323	396
DISP2	PGCKA1	Q8IY42	396
DISP2	INAFM2	P0DMQ5	378

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CACNA1C	DISP2	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): DISP2 (Affinity Capture-RNA), DISP2 (Affinity Capture-RNA), DISP2 (Affinity Capture-RNA)

ESM2 similar proteins: A0PJX8, A4IFG4, A5D7M7, A6NKF7, A7MBM2, E9PY61, J3QMI4, L5KLU7, O70491, Q03395, Q08E36, Q0V8E7, Q0VD38, Q1KZG0, Q2KJ98, Q3SWY4, Q3TYP4, Q49LS1, Q4QR83, Q53RY4, Q5GH56, Q5GH64, Q5GH72, Q5R7B4, Q5T1A1, Q5XK03, Q66K66, Q674R7, Q6EBV9, Q6GQT5, Q6P5W5, Q6PEY1, Q6PRD1, Q80WF4, Q80ZU9, Q86XJ0, Q8BG75, Q8K177, Q8N144, Q8N4L1

Diamond homologs: A7MBM2, Q3TDN0, Q6R5J1, Q6R5J2, Q8CIP5, Q96F81, Q9VNJ5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	235
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1384 predictions. Top by Δscore:

Variant	Effect	Δscore
15:40364419:A:AG	acceptor_gain	1.0000
15:40364420:G:GC	acceptor_gain	1.0000
15:40364420:GC:G	acceptor_gain	1.0000
15:40364420:GCT:G	acceptor_gain	1.0000
15:40364420:GCTA:G	acceptor_gain	1.0000
15:40364420:GCTAT:G	acceptor_gain	1.0000
15:40364541:GCTG:G	donor_gain	1.0000
15:40364542:CTGG:C	donor_loss	1.0000
15:40364543:TGGTG:T	donor_loss	1.0000
15:40364544:GGTGA:G	donor_loss	1.0000
15:40364545:G:GG	donor_gain	1.0000
15:40364545:GTGAG:G	donor_loss	1.0000
15:40364546:T:G	donor_loss	1.0000
15:40358387:G:T	donor_gain	0.9900
15:40358437:ACAGG:A	donor_loss	0.9900
15:40358438:CAGG:C	donor_loss	0.9900
15:40358439:AGGT:A	donor_loss	0.9900
15:40358440:GG:G	donor_loss	0.9900
15:40358441:GTA:G	donor_loss	0.9900
15:40358442:T:A	donor_loss	0.9900
15:40363745:GCCT:G	donor_gain	0.9900
15:40363953:AGGT:A	donor_loss	0.9900
15:40363956:T:A	donor_loss	0.9900
15:40364415:TCCCA:T	acceptor_gain	0.9900
15:40364416:CCCA:C	acceptor_gain	0.9900
15:40364417:CCA:C	acceptor_gain	0.9900
15:40364418:CA:C	acceptor_gain	0.9900
15:40364419:A:C	acceptor_gain	0.9900
15:40364420:G:T	acceptor_gain	0.9900
15:40364542:CTG:C	donor_gain	0.9900

AlphaMissense

9002 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:40368228:T:A	W706R	0.998
15:40368228:T:C	W706R	0.998
15:40369077:A:C	S989R	0.998
15:40369079:C:A	S989R	0.998
15:40369079:C:G	S989R	0.998
15:40367121:A:C	S337R	0.997
15:40367123:C:A	S337R	0.997
15:40367123:C:G	S337R	0.997
15:40365678:T:A	W300R	0.996
15:40365678:T:C	W300R	0.996
15:40365705:T:A	C309S	0.996
15:40365706:G:C	C309S	0.996
15:40365680:G:C	W300C	0.995
15:40365680:G:T	W300C	0.995
15:40365699:T:C	S307P	0.995
15:40367126:G:C	W338C	0.995
15:40367126:G:T	W338C	0.995
15:40367127:T:C	S339P	0.995
15:40367215:T:C	L368P	0.995
15:40367316:T:A	C402S	0.995
15:40367317:G:C	C402S	0.995
15:40367370:T:C	F420L	0.995
15:40367372:T:A	F420L	0.995
15:40367372:T:G	F420L	0.995
15:40367418:A:C	S436R	0.995
15:40367420:C:A	S436R	0.995
15:40367420:C:G	S436R	0.995
15:40368219:C:A	R703S	0.995
15:40369456:G:A	G1115E	0.995
15:40365705:T:C	C309R	0.994

dbSNP variants (sampled 300 via entrez): RS1000062467 (15:40377165 A>T), RS1000154968 (15:40361778 G>T), RS1000184990 (15:40371208 C>T), RS1000256871 (15:40363070 G>A), RS1000258684 (15:40370865 T>A,C), RS1000289272 (15:40357502 C>T), RS1000565470 (15:40358606 C>T), RS1000590266 (15:40370097 G>A,C), RS1000889865 (15:40358468 A>C,G,T), RS1001195228 (15:40371609 C>T), RS1001239874 (15:40371395 G>A), RS1001270381 (15:40364512 G>A,T), RS1001418259 (15:40370979 C>T), RS1001472118 (15:40378203 G>A), RS1001526177 (15:40365725 G>A,C)

Disease associations

OMIM: gene MIM:607503 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST006479_121	Diverticular disease	9.000000e-11
GCST010725_23	Malaria	2.000000e-06
GCST010725_38	Malaria	3.000000e-06
GCST010725_80	Malaria	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009959	diverticular disease

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, increases expression	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	increases expression, affects cotreatment, decreases expression, affects response to substance	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)

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