KIF19

gene
On this page

Also known as FLJ37300KIF19A

Summary

KIF19 (kinesin family member 19, HGNC:26735) is a protein-coding gene on chromosome 17q25.1, encoding Kinesin-like protein KIF19 (Q2TAC6). Plus end-directed microtubule-dependent motor protein that regulates the length of motile cilia by mediating depolymerization of microtubules at ciliary tips.

Predicted to enable ATP hydrolysis activity; microtubule binding activity; and plus-end-directed microtubule motor activity. Predicted to be involved in axonemal microtubule depolymerization; microtubule-based movement; and plus-end specific microtubule depolymerization. Predicted to be located in cilium. Predicted to be part of kinesin complex. Predicted to be active in cytoplasm and microtubule.

Source: NCBI Gene 124602 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 228 total — 1 pathogenic
  • MANE Select transcript: NM_153209

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26735
Approved symbolKIF19
Namekinesin family member 19
Location17q25.1
Locus typegene with protein product
StatusApproved
AliasesFLJ37300, KIF19A
Ensembl geneENSG00000196169
Ensembl biotypeprotein_coding
OMIM619610
Entrez124602

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 28 protein_coding, 4 retained_intron

ENST00000359939, ENST00000389916, ENST00000547389, ENST00000549637, ENST00000551017, ENST00000551294, ENST00000894664, ENST00000894665, ENST00000894666, ENST00000894667, ENST00000894668, ENST00000894669, ENST00000894670, ENST00000894671, ENST00000894672, ENST00000894673, ENST00000894674, ENST00000894675, ENST00000894676, ENST00000894677, ENST00000894678, ENST00000894679, ENST00000894680, ENST00000894681, ENST00000894682, ENST00000894683, ENST00000894684, ENST00000894685, ENST00000894686, ENST00000894687, ENST00000894688, ENST00000962457

RefSeq mRNA: 1 — MANE Select: NM_153209 NM_153209

CCDS: CCDS32718

Canonical transcript exons

ENST00000389916 — 20 exons

ExonStartEnd
ENSE000013516197432622674326388
ENSE000015554667435518274355820
ENSE000016316287435282174352954
ENSE000016366417435478274354941
ENSE000016523177435319674353301
ENSE000016589297435349474353581
ENSE000017180337435186774352137
ENSE000017351887435221974352340
ENSE000017556017435070774350905
ENSE000017580707435416274354559
ENSE000034660517434918474349349
ENSE000035104177434777774347899
ENSE000035139767434422374344348
ENSE000035175627434637874346524
ENSE000035549797435040174350575
ENSE000035716807434476174344955
ENSE000036175287434263074342717
ENSE000036212767434302474343160
ENSE000036308907432842574328505
ENSE000036560297434187674341986

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 94.86.

FANTOM5 (CAGE): breadth broad, TPM avg 1.7770 / max 139.6221, expressed in 367 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1625971.6972356
1625960.079826

Top tissues by expression

240 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
right uterine tubeUBERON:000130294.86gold quality
sural nerveUBERON:001548894.44gold quality
tibial nerveUBERON:000132393.20gold quality
olfactory segment of nasal mucosaUBERON:000538686.73gold quality
spleenUBERON:000210681.43gold quality
granulocyteCL:000009479.67gold quality
C1 segment of cervical spinal cordUBERON:000646975.28gold quality
hypothalamusUBERON:000189875.26gold quality
amygdalaUBERON:000187674.12gold quality
caudate nucleusUBERON:000187373.97gold quality
putamenUBERON:000187473.96gold quality
spinal cordUBERON:000224072.13gold quality
bronchial epithelial cellCL:000232872.00gold quality
Brodmann (1909) area 9UBERON:001354071.74gold quality
buccal mucosa cellCL:000233671.68silver quality
substantia nigraUBERON:000203870.87gold quality
bronchusUBERON:000218570.57gold quality
bone marrow cellCL:000209270.50gold quality
Ammon’s hornUBERON:000195469.44gold quality
nucleus accumbensUBERON:000188269.15gold quality
endocervixUBERON:000045868.98gold quality
right frontal lobeUBERON:000281068.60gold quality
midbrainUBERON:000189167.32gold quality
small intestine Peyer’s patchUBERON:000345466.49gold quality
mucosa of transverse colonUBERON:000499166.15gold quality
anterior cingulate cortexUBERON:000983565.75gold quality
transverse colonUBERON:000115765.37gold quality
left uterine tubeUBERON:000130365.32gold quality
colonic epitheliumUBERON:000039765.15silver quality
small intestineUBERON:000210864.91gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes5.29
E-GEOD-98556no8.59

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting KIF19, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-96-5P99.9572.802140
HSA-MIR-1213399.9271.822006
HSA-MIR-1271-5P99.9171.991972
HSA-MIR-6783-3P99.8967.922059
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-182-5P99.8774.032589
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-1273H-5P99.7766.322471
HSA-MIR-149-3P99.7268.223963
HSA-MIR-30B-3P99.7065.762325
HSA-MIR-3689A-3P99.7065.732306
HSA-MIR-3689B-3P99.7065.712311
HSA-MIR-3689C99.7065.712311
HSA-MIR-6779-5P99.7065.762363
HSA-MIR-6883-5P99.6968.053785
HSA-MIR-320299.6667.702737
HSA-MIR-80299.6167.701254
HSA-MIR-129099.5969.902079
HSA-MIR-205399.5769.151635
HSA-MIR-448099.4266.02735
HSA-MIR-569399.2466.671106
HSA-MIR-205499.2068.891699
HSA-MIR-196A-3P99.1967.341204
HSA-MIR-6799-5P99.1465.722093
HSA-MIR-4758-3P99.1263.96869
HSA-MIR-570198.9769.541502
HSA-MIR-5089-5P98.4566.061388
HSA-MIR-6793-3P97.6665.781084
HSA-MIR-3173-5P97.3565.821282

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriokif19ENSDARG00000053026
mus_musculusKif19aENSMUSG00000010021
rattus_norvegicusKif19ENSRNOG00000003105

Paralogs (41): KIF1B (ENSG00000054523), KIF26A (ENSG00000066735), KIF2A (ENSG00000068796), KIF22 (ENSG00000079616), KIF3C (ENSG00000084731), KIF9 (ENSG00000088727), KIF16B (ENSG00000089177), KIF4A (ENSG00000090889), KIF3B (ENSG00000101350), KIF20A (ENSG00000112984), KIF21B (ENSG00000116852), KIF17 (ENSG00000117245), KIF14 (ENSG00000118193), KIF18A (ENSG00000121621), KIF25 (ENSG00000125337), KIF1C (ENSG00000129250), KIF1A (ENSG00000130294), KIF3A (ENSG00000131437), KIF12 (ENSG00000136883), KIF13A (ENSG00000137177), KIF23 (ENSG00000137807), KIF11 (ENSG00000138160), CENPE (ENSG00000138778), KIF21A (ENSG00000139116), KIFC3 (ENSG00000140859), KIF2B (ENSG00000141200), KIF2C (ENSG00000142945), KIF5A (ENSG00000155980), KIF26B (ENSG00000162849), KIF15 (ENSG00000163808), KIF6 (ENSG00000164627), KIF27 (ENSG00000165115), KIF7 (ENSG00000166813), KIFC2 (ENSG00000167702), KIF5C (ENSG00000168280), KIF5B (ENSG00000170759), KIF18B (ENSG00000186185), KIF24 (ENSG00000186638), KIF13B (ENSG00000197892), KIF4B (ENSG00000226650)

Protein

Protein identifiers

Kinesin-like protein KIF19Q2TAC6 (reviewed: Q2TAC6)

All UniProt accessions (2): Q2TAC6, F8VW50

UniProt curated annotations — full annotation on UniProt →

Function. Plus end-directed microtubule-dependent motor protein that regulates the length of motile cilia by mediating depolymerization of microtubules at ciliary tips.

Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Cilium.

Miscellaneous. Due to intron retention. Due to intron retention.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.

Isoforms (3)

UniProt IDNamesCanonical?
Q2TAC6-11yes
Q2TAC6-22
Q2TAC6-33

RefSeq proteins (1): NP_694941* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001752Kinesin_motor_domDomain
IPR019821Kinesin_motor_CSConserved_site
IPR027417P-loop_NTPaseHomologous_superfamily
IPR027640Kinesin-like_famFamily
IPR036961Kinesin_motor_dom_sfHomologous_superfamily

Pfam: PF00225

UniProt features (24 total): compositionally biased region 6, region of interest 5, sequence variant 4, splice variant 3, coiled-coil region 3, chain 1, domain 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q2TAC6-F165.400.20

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 104–111

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

IDPathway
R-HSA-6811434COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189Kinesins
R-HSA-109582Hemostasis
R-HSA-199991Membrane Trafficking
R-HSA-5653656Vesicle-mediated transport
R-HSA-6811442Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-8856688Golgi-to-ER retrograde transport
R-HSA-983231Factors involved in megakaryocyte development and platelet production

MSigDB gene sets: 87 (showing top): GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, GOCC_KINESIN_COMPLEX, REACTOME_MEMBRANE_TRAFFICKING, GOBP_MICROTUBULE_DEPOLYMERIZATION, GOBP_CILIUM_ORGANIZATION, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_PROTEIN_DEPOLYMERIZATION, GOBP_CELL_PROJECTION_ORGANIZATION, CCCNNGGGAR_OLF1_01, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_ORGANELLE_DISASSEMBLY, GOCC_CYTOPLASMIC_REGION, GOCC_CILIUM, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GOMF_CYTOSKELETAL_PROTEIN_BINDING

GO Biological Process (3): microtubule-based movement (GO:0007018), axonemal microtubule depolymerization (GO:0060404), plus-end specific microtubule depolymerization (GO:0070462)

GO Molecular Function (7): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), plus-end-directed microtubule motor activity (GO:0008574), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774)

GO Cellular Component (7): cytoplasm (GO:0005737), kinesin complex (GO:0005871), microtubule (GO:0005874), cilium (GO:0005929), axoneme (GO:0005930), cytoskeleton (GO:0005856), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-6 pathways:

CategoryPathways
Golgi-to-ER retrograde transport1
Factors involved in megakaryocyte development and platelet production1
Vesicle-mediated transport1
Membrane Trafficking1
Intra-Golgi and retrograde Golgi-to-ER traffic1
Hemostasis1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
ATP-dependent activity2
microtubule-based process1
axoneme1
cytoplasmic microtubule depolymerization1
cilium disassembly1
microtubule depolymerization1
cytoskeletal motor activity1
polypeptide conformation or assembly isomerase activity1
adenyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
tubulin binding1
microtubule motor activity1
ribonucleoside triphosphate phosphatase activity1
nucleoside phosphate binding1
heterocyclic compound binding1
molecular_function1
intracellular anatomical structure1
microtubule associated complex1
microtubule cytoskeleton1
polymeric cytoskeletal fiber1
intraciliary transport particle1
membrane-bounded organelle1
plasma membrane bounded cell projection1
cytoskeleton1
microtubule1
ciliary plasm1
intracellular membraneless organelle1

Protein interactions and networks

STRING

955 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KIF19CIB3Q96Q77695
KIF19BTBD17A6NE02596
KIF19KIF18AQ8NI77513
KIF19IFT46Q9NQC8513
KIF19SMC4Q9NTJ3491
KIF19C19orf81C9J6K1447
KIF19DNAI2Q9GZS0435
KIF19GYG2O15488427
KIF19DCTN5Q9BTE1404
KIF19CEP164Q9UPV0392
KIF19NEK10Q6ZWH5372
KIF19IFT140Q96RY7372
KIF19NCBP2LA6PVI3370
KIF19CD300AQ9UGN4363
KIF19CD300LDQ6UXZ3348

IntAct

2 interactions, top by confidence:

ABTypeScore
KIF19HTR2Bpsi-mi:“MI:0915”(physical association)0.370

BioGRID (8): AKAP9 (Two-hybrid), NDEL1 (Two-hybrid), KIF19 (Two-hybrid), MAPRE3 (Two-hybrid), KIF19 (Two-hybrid), KIF19 (Positive Genetic), KIF19 (Affinity Capture-MS), KIF19 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A2A5N8, A6NCW0, A6NCW7, A8MUK1, B1AQJ2, B2RQC2, C9J2P7, C9JJH3, C9JLJ4, C9JPN9, C9JVI0, D3ZWK4, D6R901, D6R9N7, D6RA61, D6RBM5, D6RBQ6, D6RCP7, D6RJB6, E9Q9U0, G5E8G2, G5E8I7, O94966, P0C7H9, P0C7I0, P35125, P51784, Q0E2F9, Q0WX57, Q2TAC6, Q3UJD6, Q4KLL9, Q5R7G8, Q5TKR9, Q61068, Q66HE5, Q6J1Y9, Q6PFD6, Q6QN14, Q6R6M4

Diamond homologs: A0A068FIK2, A0JN40, A1ZAJ2, A8BB91, A8BKD1, B1AVY7, B7EJ91, B7ZNG0, B9F2Y7, B9GE13, F1M4A4, F1M5N7, F1QN54, F4IIS5, F4J1U4, F4K0J3, G5EGS3, O14343, O14782, O15066, O23826, O35066, O35071, O35787, O43896, O45935, O55165, O60282, O60333, O75037, O88658, O95239, P17210, P21613, P23678, P28738, P28741, P33173, P33174, P33175

SIGNOR signaling

1 interactions.

AEffectBMechanism
KIF19up-regulates“Plus-end directed sliding movement”

Disease & clinical

Clinical variants and AI predictions

ClinVar

228 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance205
Likely benign13
Benign5

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
1252051NM_153209.4(KIF19):c.788G>A (p.Arg263His)Pathogenic

SpliceAI

3089 predictions. Top by Δscore:

VariantEffectΔscore
17:74326385:CATGG:Cdonor_loss1.0000
17:74326388:GGTGA:Gdonor_loss1.0000
17:74326389:G:GAdonor_loss1.0000
17:74326390:T:Adonor_loss1.0000
17:74341985:AGG:Adonor_loss1.0000
17:74341986:GGT:Gdonor_loss1.0000
17:74341987:GT:Gdonor_loss1.0000
17:74341988:T:Adonor_loss1.0000
17:74342628:A:ACacceptor_loss1.0000
17:74342628:A:AGacceptor_gain1.0000
17:74342628:AG:Aacceptor_gain1.0000
17:74342629:G:GTacceptor_gain1.0000
17:74342629:GG:Gacceptor_gain1.0000
17:74342629:GGA:Gacceptor_gain1.0000
17:74342629:GGAGA:Gacceptor_gain1.0000
17:74342715:CAGGT:Cdonor_loss1.0000
17:74342718:GTAA:Gdonor_loss1.0000
17:74343020:CCAG:Cacceptor_loss1.0000
17:74343021:CA:Cacceptor_loss1.0000
17:74343023:GGCT:Gacceptor_gain1.0000
17:74343130:G:GTdonor_gain1.0000
17:74343156:TGGAG:Tdonor_gain1.0000
17:74343157:GGAG:Gdonor_gain1.0000
17:74343157:GGAGG:Gdonor_gain1.0000
17:74343158:GAG:Gdonor_gain1.0000
17:74343158:GAGG:Gdonor_gain1.0000
17:74343159:AGGT:Adonor_loss1.0000
17:74343161:G:GGdonor_gain1.0000
17:74343161:G:Tdonor_loss1.0000
17:74343162:T:Adonor_loss1.0000

AlphaMissense

6489 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:74344233:A:TE156V1.000
17:74346408:G:AG270R1.000
17:74346408:G:CG270R1.000
17:74346420:A:GN274D1.000
17:74346422:C:AN274K1.000
17:74346422:C:GN274K1.000
17:74346430:T:CL277P1.000
17:74346433:T:CL278P1.000
17:74346449:C:GC283W1.000
17:74346501:A:CS301R1.000
17:74346503:C:AS301R1.000
17:74346503:C:GS301R1.000
17:74342708:G:CG104R0.999
17:74342709:G:AG104D0.999
17:74343033:A:TK110I0.999
17:74344232:G:AE156K0.999
17:74344233:A:CE156A0.999
17:74344839:C:GH221D0.999
17:74344841:C:AH221Q0.999
17:74344841:C:GH221Q0.999
17:74344930:T:CL251P0.999
17:74344944:C:AR256S0.999
17:74346408:G:TG270W0.999
17:74346409:G:AG270E0.999
17:74346411:G:CA271P0.999
17:74346412:C:AA271D0.999
17:74346418:T:AI273N0.999
17:74346418:T:CI273T0.999
17:74346418:T:GI273S0.999
17:74346421:A:TN274I0.999

dbSNP variants (sampled 300 via entrez): RS1000049505 (17:74353058 A>G), RS1000091442 (17:74325858 G>A), RS1000136309 (17:74330393 T>C), RS1000177975 (17:74331445 C>T), RS1000298562 (17:74345267 G>A), RS1000384292 (17:74335963 T>C), RS1000409292 (17:74340751 G>A), RS1000583943 (17:74339743 G>A), RS1000638770 (17:74343926 C>T), RS1000728699 (17:74339567 GC>G), RS1000932591 (17:74324456 C>A), RS1001003365 (17:74354108 G>A,T), RS1001172906 (17:74335089 A>G), RS1001236015 (17:74328182 G>A), RS1001436043 (17:74335277 G>A)

Disease associations

OMIM: gene MIM:619610 | disease phenotypes: MIM:236750

GenCC curated gene-disease

Mondo (1): non-immune hydrops fetalis (MONDO:0009369)

Orphanet (1): Non-immune hydrops fetalis (Orphanet:363999)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, increases methylation2
propionaldehydedecreases expression1
beta-lapachonedecreases expression1
butyraldehydeincreases expression1
benzo(e)pyreneincreases methylation1
aflatoxin B2increases methylation1
pentanalincreases expression1
Resveratrolaffects cotreatment, decreases expression1
Air Pollutantsincreases abundance, increases expression1
Methapyrileneincreases methylation1
Oxygendecreases expression1
Phthalic Acidsdecreases methylation1
Plant Extractsaffects cotreatment, decreases expression1
Silicon Dioxidedecreases expression1
Smokeincreases abundance, increases expression1
Tobacco Smoke Pollutiondecreases expression1
Valproic Acidincreases methylation1
1-Methyl-4-phenylpyridiniumincreases expression1
Aflatoxin B1decreases methylation1

Clinical trials (associated diseases)

2 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT04308603Not specifiedCOMPLETEDMulticentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops (NIH) Fetalis by Massively Parallel Sequencing
NCT05528796Not specifiedENROLLING_BY_INVITATIONUncovering the Etiologies of Non-immune Hydrops Fetalis
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): non-immune hydrops fetalis