RANBP17

protein-coding

RAN binding protein 17, the group of Armadillo like helical domain containing

Gene summary

The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]

MANE transcript

NM_022897.5

Inheritance

—

ClinVar variants

U:184B:18

Top phenotype

RANBP17-related disorder

gnomAD constraint

pLI —, LoF o/e 1.07

Max pathogenic AF

—

Genomic locus

chr5:170,861,870-171,300,015

External References & Databases

Ensembl (ENSG00000204764)

Transcript & Mutation Effects

hg38 • Region Span ~438.1 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 RANBP17 variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 164

RANBP17-related disorderTotal: 13

not providedTotal: 4

Autism spectrum disorderTotal: 2

See casesTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022897.5. 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			2 clinvar	2 clinvar		4
missense			169 clinvar	11 clinvar	4 clinvar	184
nonsense			3 clinvar	1 clinvar		4
start loss						0
frameshift			4 clinvar			4
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	184	14	4	202

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 41 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022897.5	RefSeq	NP_075048.1	28	MANE Select
ENST00000523189.6	Ensembl	ENSP00000427975.1	28	MANE Select
ENST00000389118.8	Ensembl	ENSP00000373770.4	15	Standard
ENST00000518492.1	Ensembl	ENSP00000427980.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein import into nucleus
protein export from nucleus
mRNA transport

Molecular Function

nuclear export signal receptor activity
GTP binding
Ran GTPase binding

Cellular Component

nuclear pore
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000523189
Coding exons: 28
Length: 438146
Individuals with no LoFs: 125504
Homozygous LoFs: 0
Heterozygous LoFs: 244
Defined: 125748
p: 0.000971

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.11	637	563	1.13	0.0000287	7118
Missense (PolyPhen)		190	163.82	1.1598		2218
Synonymous	0.938	185	202	0.916	0.0000103	2037
Loss of Function	-0.504	65	60.8	1.07	0.00000307	771

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0014	0.0014	notable
Latino/Admixed American	0.00086	0.00084	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.0012	0.0011	notable
Finnish	0.00019	0.00018	rare
European (Non-Finnish)	0.0011	0.0010	notable
South Asian	0.0014	0.0014	notable
Other	0.00068	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May function as a nuclear transport receptor. {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.995
RVIS EVS: 0.12
RVIS percentile EVS: 62.23

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0945

Gene Damage Prediction

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