ACBD4

protein-coding

acyl-CoA binding domain containing 4

Gene summary

This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

MANE transcript

NM_001135705.3

Inheritance

—

ClinVar variants

U:43B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.58

Max pathogenic AF

—

Genomic locus

chr17:45,132,600-45,144,181

External References & Databases

Ensembl (ENSG00000181513)

Transcript & Mutation Effects

hg38 • Region Span ~11.6 kb

Loading mutation effect viewer...

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 ACBD4 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 42

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001135705.3. 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			8 clinvar			8
missense			30 clinvar	5 clinvar		35
nonsense			2 clinvar	1 clinvar		3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	43	6	0	49

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 163 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001135705.3	RefSeq	NP_001129177.1	9	MANE Select
ENST00000321854.13	Ensembl	ENSP00000314440.8	9	MANE Select
NM_001135706.3	RefSeq	NP_001129178.1	9	Standard
NM_001135707.3	RefSeq	NP_001129179.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of lipids
Peroxisomal lipid metabolism
Metabolism
Fatty acid metabolism

Molecular Function

fatty-acyl-CoA binding
lipid binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000431281
Coding exons: 9
Length: 11582
Individuals with no LoFs: 124762
Homozygous LoFs: 0
Heterozygous LoFs: 30
Defined: 124792
p: 0.000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.298	197	209	0.942	0.0000120	2206
Missense (PolyPhen)		60	57.72	1.0395		566
Synonymous	0.278	81	84.2	0.961	0.00000543	680
Loss of Function	1.83	13	22.3	0.583	0.00000123	212

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00050	0.00050	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000098	0.000097	rare
South Asian	0.00020	0.00020	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds medium- and long-chain acyl-CoA esters and may function as an intracellular carrier of acyl-CoA esters.;

Recessive Scores

pRec: 0.0811

Intolerance Scores

LoFtool: 0.822
RVIS EVS: 0.46
RVIS percentile EVS: 78.59

Essentials

Essential (CRISPR): E
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0142

Gene Damage Prediction

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