KIFC2

kinesin family member C2, the group of Kinesins

Basic information

Region (hg38): 8:144466042-144474202

Links

ENSG00000167702 ∙ NCBI:90990 ∙ OMIM:615216 ∙ HGNC:29530 ∙ Uniprot:Q96AC6 ∙ 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 KIFC2 gene.

• Inborn genetic diseases (49 variants)
• Holoprosencephaly sequence (15 variants)
• not provided (6 variants)
• CBL-related disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIFC2 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				3	1	4
missense			46	5		51
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			11	1	3	15
Total	0	0	58	9	4

Variants in KIFC2

This is a list of pathogenic ClinVar variants found in the KIFC2 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-144466430-T-G		not specified	Uncertain significance (Nov 10, 2022)
8-144466443-C-T			Benign (Jun 28, 2017)
8-144466461-C-A		not specified	Uncertain significance (Sep 13, 2023)
8-144466500-G-C		not specified	Likely benign (May 25, 2022)
8-144466769-A-C		not specified	Uncertain significance (Jun 24, 2022)
8-144466959-C-T		not specified	Uncertain significance (May 03, 2023)
8-144466961-A-G		not specified	Uncertain significance (Nov 15, 2023)
8-144466970-C-T		not specified	Likely benign (Jan 24, 2024)
8-144466976-G-A		not specified	Uncertain significance (Oct 06, 2021)
8-144467094-C-T		not specified	Uncertain significance (Jan 30, 2024)
8-144467230-G-A		not specified	Uncertain significance (Feb 05, 2024)
8-144467294-T-C		not specified	Uncertain significance (Mar 16, 2022)
8-144467488-C-T		not specified	Uncertain significance (May 23, 2023)
8-144467508-C-T		not specified	Uncertain significance (Mar 07, 2024)
8-144467530-C-T		not specified	Uncertain significance (Mar 06, 2023)
8-144467560-G-A		not specified	Uncertain significance (Jun 28, 2023)
8-144467593-G-A		not specified	Uncertain significance (Nov 09, 2022)
8-144467615-G-T			Likely benign (Dec 01, 2022)
8-144467619-A-T			Likely benign (Dec 01, 2022)
8-144467964-G-A		not specified	Uncertain significance (Sep 22, 2023)
8-144468341-G-T		not specified	Uncertain significance (Feb 28, 2023)
8-144468390-A-T		not specified	Uncertain significance (May 27, 2022)
8-144468600-C-T		not specified	Uncertain significance (Dec 15, 2022)
8-144468618-G-A		not specified	Uncertain significance (Nov 03, 2023)
8-144468812-C-T		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIFC2	protein_coding	protein_coding	ENST00000301332	17	8160

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.38e-11	0.984	125703	0	41	125744	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.41	540	456	1.19	0.0000255	5088
Missense in Polyphen		144	158.06	0.91105		1861
Synonymous	-7.23	328	198	1.65	0.0000104	1899
Loss of Function	2.41	24	40.6	0.592	0.00000212	411

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000267	0.000266
Ashkenazi Jewish	0.000103	0.0000992
East Asian	0.000118	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000181	0.000176
Middle Eastern	0.000118	0.000109
South Asian	0.000330	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in microtubule-dependent retrograde axonal transport. May function as the motor for the transport of multivesicular body (MVB)-like organelles in dendrites (By similarity). {ECO:0000250}.
• 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: 0.0992

Haploinsufficiency Scores

• pHI: 0.545
• hipred: N
• hipred_score: 0.321
• ghis: 0.550

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.124

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kifc2

Gene ontology

• Biological process: microtubule-based movement
• Cellular component: cytoplasm;kinesin complex;microtubule
• Molecular function: microtubule motor activity;ATP binding;microtubule binding;ATPase activity