ABCF2

ATP binding cassette subfamily F member 2, the group of ATP binding cassette subfamily F

Basic information

Region (hg38): 7:151211484-151227205

Links

ENSG00000033050 ∙ NCBI:10061 ∙ OMIM:612510 ∙ HGNC:71 ∙ Uniprot:Q9UG63 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ABCF2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABCF2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in ABCF2

This is a list of pathogenic ClinVar variants found in the ABCF2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-151214139-C-T		not specified	Uncertain significance (Apr 15, 2024)
7-151214174-C-G		not specified	Uncertain significance (Feb 09, 2023)
7-151214965-C-T		not specified	Uncertain significance (Dec 16, 2022)
7-151215058-C-T		not specified	Uncertain significance (Sep 13, 2023)
7-151215639-T-G		not specified	Uncertain significance (Dec 14, 2023)
7-151218591-T-G		not specified	Uncertain significance (Feb 15, 2023)
7-151218772-C-G		not specified	Uncertain significance (Aug 20, 2023)
7-151218806-G-A		not specified	Uncertain significance (Jul 06, 2021)
7-151221579-G-A		not specified	Uncertain significance (Dec 20, 2023)
7-151223732-C-T		not specified	Uncertain significance (Apr 18, 2023)
7-151223783-A-G		not specified	Uncertain significance (Nov 07, 2022)
7-151223796-C-T		not specified	Uncertain significance (Jan 04, 2024)
7-151223994-A-C		not specified	Uncertain significance (Mar 15, 2024)
7-151224832-G-C		not specified	Uncertain significance (Feb 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABCF2	protein_coding	protein_coding	ENST00000222388	15	19394

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0113	0.989	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.48	235	369	0.636	0.0000208	4178
Missense in Polyphen		61	135.86	0.44898		1628
Synonymous	0.0242	136	136	0.997	0.00000739	1200
Loss of Function	4.07	11	38.1	0.289	0.00000225	408

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000239	0.000239
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000354	0.0000352
Middle Eastern	0.000109	0.000109
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Pathway: miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase (Consensus)

Recessive Scores

• pRec: 0.120

Intolerance Scores

• loftool: 0.0308
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.51

Haploinsufficiency Scores

• pHI: 0.315
• hipred: Y
• hipred_score: 0.728
• ghis: 0.585

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.989

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Abcf2

Gene ontology

• Cellular component: mitochondrial envelope;membrane
• Molecular function: transporter activity;ATP binding;ATPase activity