AAMP

protein-coding

angio associated migratory cell protein, the group of WD repeat domain containing

Gene summary

The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014]

MANE transcript

NM_001087.5

Inheritance

—

ClinVar variants

U:56

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.18

Max pathogenic AF

—

Genomic locus

chr2:218,264,129-218,270,178

External References & Databases

Ensembl (ENSG00000127837)

Transcript & Mutation Effects

hg38 • Region Span ~6.0 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 AAMP variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 51

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001087.5. 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						0
missense			51 clinvar			51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	56	0	0	56

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 52 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001087.5	RefSeq	NP_001078.2	11	MANE Select
ENST00000248450.9	Ensembl	ENSP00000248450.4	11	MANE Select
NM_001302545.2	RefSeq	NP_001289474.1	11	Standard
ENST00000420660.5	Ensembl	ENSP00000416394.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Nucleotide-binding Oligomerization Domain (NOD) pathway

Biological Process

angiogenesis
positive regulation of endothelial cell migration
smooth muscle cell migration
cell differentiation
ribosomal large subunit biogenesis

Molecular Function

heparin binding
unfolded protein binding

Cellular Component

cytosol
plasma membrane
cell surface
microtubule cytoskeleton
intercellular bridge

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000248450
Coding exons: 11
Length: 6131
Individuals with no LoFs: 125740
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 125748
p: 0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.75	179	258	0.693	0.0000140	2828
Missense (PolyPhen)		44	87.36	0.50366		951
Synonymous	0.222	103	106	0.973	0.00000612	865
Loss of Function	3.59	4	22.3	0.179	0.00000104	248

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000044	0.000044	rare
South Asian	0.000042	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in angiogenesis and cell migration. In smooth muscle cell migration, may act through the RhoA pathway. {ECO:0000269|PubMed:10329261, ECO:0000269|PubMed:18634987}.;

Recessive Scores

pRec: 0.122

Intolerance Scores

LoFtool: 0.536
RVIS EVS: 0.04
RVIS percentile EVS: 57.15

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.628

Gene Damage Prediction

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