FAM89B

family with sequence similarity 89 member B

Basic information

Region (hg38): 11:65572349-65574198

Links

ENSG00000176973NCBI:23625OMIM:616128HGNC:16708Uniprot:Q8N5H3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAM89B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM89B 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
13
clinvar
3
clinvar
16
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 13 3 0

Variants in FAM89B

This is a list of pathogenic ClinVar variants found in the FAM89B region.

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

Position Type Phenotype Significance ClinVar
11-65572676-G-A not specified Uncertain significance (Oct 12, 2024)2384936
11-65572701-G-A not specified Uncertain significance (Sep 27, 2024)3512534
11-65572710-G-C not specified Uncertain significance (Feb 07, 2025)3847937
11-65572772-G-T not specified Uncertain significance (Jun 24, 2022)2296851
11-65572799-G-T not specified Uncertain significance (Mar 04, 2025)3847935
11-65572844-G-A not specified Uncertain significance (Oct 07, 2024)3512537
11-65572874-G-T not specified Uncertain significance (Jan 26, 2023)2466584
11-65572875-C-T not specified Uncertain significance (Jan 23, 2025)3847936
11-65572881-C-T not specified Uncertain significance (Jul 14, 2021)2398627
11-65572902-C-T not specified Uncertain significance (Mar 08, 2024)3092696
11-65572913-C-A not specified Uncertain significance (Sep 27, 2024)3512536
11-65572916-C-T not specified Uncertain significance (Jun 09, 2022)2294849
11-65573441-C-T not specified Likely benign (Sep 10, 2024)3512535
11-65573462-T-C not specified Uncertain significance (May 04, 2023)2543740
11-65573479-C-T not specified Likely benign (Mar 01, 2024)3092697
11-65573515-G-A not specified Likely benign (Jun 21, 2023)2604941
11-65573543-G-A not specified Uncertain significance (Jun 21, 2022)2362332
11-65573604-A-C not specified Uncertain significance (Oct 05, 2021)3092698
11-65573630-A-G not specified Uncertain significance (Aug 20, 2024)3512533

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FAM89Bprotein_codingprotein_codingENST00000530349 21850
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.05230.712125569051255740.0000199
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.053557.40.6090.000003161192
Missense in Polyphen2139.70.52897694
Synonymous0.1862728.30.9550.00000176416
Loss of Function0.69923.390.5901.45e-759

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005780.0000578
Ashkenazi Jewish0.000.00
East Asian0.00005460.0000544
Finnish0.000.00
European (Non-Finnish)0.00001850.0000176
Middle Eastern0.00005460.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Negatively regulates TGF-beta-induced signaling; in cooperation with SKI prevents the translocation of SMAD2 from the nucleus to the cytoplasm in response to TGF-beta. Acts as an adapter that mediates the specific recognition of LIMK1 by CDC42BPA and CDC42BPB in the lamellipodia. LRAP25-mediated CDC42BPA/CDC42BPB targeting to LIMK1 and the lamellipodium results in LIMK1 activation and the subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation. {ECO:0000250|UniProtKB:Q9QUI1}.;

Haploinsufficiency Scores

pHI
0.154
hipred
N
hipred_score
0.291
ghis
0.503

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
E
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.121

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fam89b
Phenotype

Gene ontology

Biological process
establishment of cell polarity;positive regulation of cell migration;negative regulation of transforming growth factor beta receptor signaling pathway;negative regulation of SMAD protein signal transduction
Cellular component
cytoplasm;lamellipodium
Molecular function
transcription corepressor binding