DISP2

dispatched RND transporter family member 2, the group of Dispatched RND transporter family

Basic information

Region (hg38): 15:40358219-40378621

Previous symbols: [ "LINC00594", "C15orf36" ]

Links

ENSG00000140323 ∙ NCBI:85455 ∙ OMIM:607503 ∙ HGNC:19712 ∙ Uniprot:A7MBM2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DISP2 gene.

• not_specified (223 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DISP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033510.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			215	8		223
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	215	10	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DISP2	protein_coding	protein_coding	ENST00000267889	8	12822

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.199	0.801	125688	0	60	125748	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.911	731	804	0.910	0.0000475	8891
Missense in Polyphen		264	298.06	0.88574		3518
Synonymous	-0.622	368	353	1.04	0.0000198	3133
Loss of Function	4.57	10	41.9	0.239	0.00000218	431

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000497	0.000489
Finnish	0.000186	0.000185
European (Non-Finnish)	0.000356	0.000352
Middle Eastern	0.000497	0.000489
South Asian	0.0000655	0.0000653
Other	0.000658	0.000652

dbNSFP

Source: dbNSFP

• Pathway: HH-Core;Signal Transduction;Release of Hh-Np from the secreting cell;Hedgehog ligand biogenesis;Signaling by Hedgehog (Consensus)

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.204
• rvis_EVS: 0.48
• rvis_percentile_EVS: 78.96

Haploinsufficiency Scores

• pHI: 0.375
• hipred: N
• hipred_score: 0.446
• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.862

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Disp2

Zebrafish Information Network

• Gene name: disp2
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: curved ventral

Gene ontology

• Biological process: smoothened signaling pathway
• Cellular component: cellular_component;plasma membrane;integral component of membrane
• Molecular function: molecular_function