ACTR1B

protein-coding

actin related protein 1B, the group of Actin related proteins

Gene summary

This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008]

Previous symbols:

CTRN2

MANE transcript

NM_005735.4

Inheritance

—

ClinVar variants

U:62B:3

Top phenotype

Duane retraction syndrome

gnomAD constraint

pLI —, LoF o/e 0.39

Max pathogenic AF

—

Genomic locus

chr2:97,655,939-97,664,044

External References & Databases

Ensembl (ENSG00000115073)

Transcript & Mutation Effects

hg38 • Region Span ~8.1 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 ACTR1B variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 51

not providedTotal: 2

Duane retraction syndromeTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005735.4. 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	3 clinvar		4
missense			53 clinvar			53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	62	3	0	65

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 51 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_005735.4	RefSeq	NP_005726.1	11	MANE Select
ENST00000289228.7	Ensembl	ENSP00000289228.5	11	MANE Select
ENST00000855773.1	Ensembl	ENSP00000525832.1	9	Standard
ENST00000855773.2	Ensembl	ENSP00000525832.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neutrophil degranulation
Innate Immune System
Immune System

Biological Process

antigen processing and presentation of exogenous peptide antigen via MHC class II
neutrophil degranulation

Molecular Function

protein binding
ATP binding

Cellular Component

extracellular region
cytoplasm
centrosome
cytosol
dynactin complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000289228
Coding exons: 11
Length: 8140
Individuals with no LoFs: 125690
Homozygous LoFs: 0
Heterozygous LoFs: 58
Defined: 125748
p: 0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.04	201	247	0.813	0.0000174	2416
Missense (PolyPhen)		77	108.68	0.70852		1002
Synonymous	-0.00232	103	103	1.00	0.00000762	763
Loss of Function	2.70	9	23.0	0.392	0.00000142	231

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00026	0.00025	rare
Latino/Admixed American	0.00017	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0.00055	0.00055	rare
European (Non-Finnish)	0.00026	0.00026	rare
South Asian	0.000070	0.000065	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome.;

Recessive Scores

pRec: 0.530

Intolerance Scores

LoFtool: 0.311
RVIS EVS: -0.36
RVIS percentile EVS: 29.16

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.318

Gene Damage Prediction

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