KIF16B

kinesin family member 16B, the group of Kinesins

Basic information

Region (hg38): 20:16272104-16573448

Previous symbols: [ "C20orf23" ]

Links

ENSG00000089177NCBI:55614OMIM:618171HGNC:15869Uniprot:Q96L93AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF16B gene.

  • not_specified (200 variants)
  • not_provided (16 variants)
  • Prostate_cancer (2 variants)
  • Autism (1 variants)
  • Muscular_atrophy (1 variants)
  • KIF16B-related_Intellectual_Disability (1 variants)
  • See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF16B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024704.5. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
clinvar
4
missense
169
clinvar
7
clinvar
2
clinvar
178
nonsense
0
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 0 0 171 9 4
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KIF16Bprotein_codingprotein_codingENST00000408042 23301330
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.10e-190.97912542803201257480.00127
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.106687530.8870.00004269147
Missense in Polyphen289360.270.802174343
Synonymous1.362572860.8980.00001612592
Loss of Function2.684063.00.6350.00000301811

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.004390.00430
Ashkenazi Jewish0.001590.00159
East Asian0.004320.00425
Finnish0.0001390.000139
European (Non-Finnish)0.001020.00101
Middle Eastern0.004320.00425
South Asian0.0008470.000817
Other0.0008180.000815

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plus end-directed microtubule-dependent motor protein involved in endosome transport and receptor recycling and degradation. Regulates the plus end motility of early endosomes and the balance between recycling and degradation of receptors such as EGF receptor (EGFR) and FGF receptor (FGFR). Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. {ECO:0000269|PubMed:15882625}.;
Pathway
Vesicle-mediated transport;Membrane Trafficking;Kinesins;Factors involved in megakaryocyte development and platelet production;Hemostasis;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

pRec
0.111

Intolerance Scores

loftool
0.928
rvis_EVS
0.44
rvis_percentile_EVS
77.7

Haploinsufficiency Scores

pHI
0.444
hipred
N
hipred_score
0.327
ghis
0.487

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0554

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Kif16b
Phenotype
embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process
formation of primary germ layer;regulation of receptor recycling;Golgi to endosome transport;microtubule-based movement;epidermal growth factor receptor signaling pathway;endoderm development;fibroblast growth factor receptor signaling pathway;receptor catabolic process;early endosome to late endosome transport;cellular response to interferon-gamma
Cellular component
endosome;early endosome;cytosol;kinesin complex;microtubule;early endosome membrane;phagocytic vesicle
Molecular function
microtubule motor activity;ATP binding;phosphatidylinositol-3,4,5-trisphosphate binding;microtubule binding;ATP-dependent microtubule motor activity, plus-end-directed;ATPase activity;Rab GTPase binding;phosphatidylinositol-3-phosphate binding;phosphatidylinositol-3,4-bisphosphate binding;phosphatidylinositol-3,5-bisphosphate binding