MIIP

protein-coding

migration and invasion inhibitory protein, the group of MicroRNA protein coding host genes

Gene summary

This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 and may function as an inhibitor of cell migration and invasion. This protein also interacts with the cell division protein 20 and may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 2011]

MANE transcript

NM_021933.4

Inheritance

—

ClinVar variants

U:72B:20

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.27

Max pathogenic AF

—

Genomic locus

chr1:12,019,466-12,032,045

External References & Databases

Ensembl (ENSG00000116691)

Transcript & Mutation Effects

hg38 • Region Span ~12.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MIIP variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 74

not providedTotal: 11

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_021933.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar		4 clinvar	5
missense			66 clinvar	10 clinvar	5 clinvar	81
nonsense						0
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	72	11	9	92

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_021933.4	RefSeq	NP_068752.2	9	MANE Select
ENST00000235332.6	Ensembl	ENSP00000235332.4	9	MANE Select
ENST00000857908.1	Ensembl	ENSP00000527967.1	9	Standard
ENST00000857908.2	Ensembl	ENSP00000527967.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of G2/M transition of mitotic cell cycle
negative regulation of cell migration

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000235332
Coding exons: 9
Length: 12580
Individuals with no LoFs: 125506
Homozygous LoFs: 1
Heterozygous LoFs: 238
Defined: 125745
p: 0.000951

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.224	257	247	1.04	0.0000162	2433
Missense (PolyPhen)		73	71.224	1.0249		786
Synonymous	0.750	95	105	0.907	0.00000645	842
Loss of Function	-1.17	27	21.2	1.27	0.00000122	208

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0018	0.0017	notable
Latino/Admixed American	0.00082	0.00081	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0055	0.0056	notable
Finnish	0.000094	0.000092	rare
European (Non-Finnish)	0.00058	0.00056	rare
South Asian	0.00040	0.00039	rare
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Inhibits glioma cells invasion and down-regulates adhesion- and motility-associated genes such as NFKB2 and ICAM1. Exhibits opposing effects to IGFBP2 on cell invasion. {ECO:0000269|PubMed:14617774}.;

Intolerance Scores

LoFtool: 0.953
RVIS EVS: 0.69
RVIS percentile EVS: 85.24

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.707

Gene Damage Prediction

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