KRT24

gene
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Also known as FLJ20261MGC138169MGC138173

Summary

KRT24 (keratin 24, HGNC:18527) is a protein-coding gene on chromosome 17q21.2, encoding Keratin, type I cytoskeletal 24 (Q2M2I5).

This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21.

Source: NCBI Gene 192666 — RefSeq curated summary.

At a glance

  • GWAS associations: 8
  • Clinical variants (ClinVar): 89 total
  • Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
  • MANE Select transcript: NM_019016

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18527
Approved symbolKRT24
Namekeratin 24
Location17q21.2
Locus typegene with protein product
StatusApproved
AliasesFLJ20261, MGC138169, MGC138173
Ensembl geneENSG00000167916
Ensembl biotypeprotein_coding
OMIM607742
Entrez192666

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000264651

RefSeq mRNA: 1 — MANE Select: NM_019016 NM_019016

CCDS: CCDS11372

Canonical transcript exons

ENST00000264651 — 8 exons

ExonStartEnd
ENSE000007210094069853840698650
ENSE000007210114069999840700123
ENSE000007210144070022240700383
ENSE000008634214069944440699661
ENSE000012719694070114040701296
ENSE000012719924069799140698340
ENSE000012720044070307940703752
ENSE000018013814070185140701933

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 99.40.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 6.8655 / max 7785.7232, expressed in 63 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1657996.865563

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
amniotic fluidUBERON:000017399.40gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099195.32gold quality
cauda epididymisUBERON:000436095.09gold quality
pharyngeal mucosaUBERON:000035594.96gold quality
buccal mucosa cellCL:000233693.63silver quality
corpus epididymisUBERON:000435990.86gold quality
esophagus mucosaUBERON:000246989.98gold quality
esophagus squamous epitheliumUBERON:000692086.75gold quality
epithelium of esophagusUBERON:000197686.67gold quality
periodontal ligamentUBERON:000826685.42gold quality
nasal cavity epitheliumUBERON:000538484.54gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047384.07gold quality
oral cavityUBERON:000016783.04gold quality
squamous epitheliumUBERON:000691482.88gold quality
gingivaUBERON:000182880.25gold quality
gingival epitheliumUBERON:000194979.79gold quality
mucosa of stomachUBERON:000119979.72gold quality
spermCL:000001978.70gold quality
palpebral conjunctivaUBERON:000181278.50gold quality
male germ cellCL:000001576.89gold quality
rectumUBERON:000105275.24gold quality
lower esophagus mucosaUBERON:003583473.84gold quality
esophagusUBERON:000104373.19gold quality
mucosa of transverse colonUBERON:000499172.58gold quality
eyeUBERON:000097071.88gold quality
cervix epitheliumUBERON:000480171.75silver quality
seminal vesicleUBERON:000099871.37gold quality
tonsilUBERON:000237270.78gold quality
fundus of stomachUBERON:000116070.27gold quality
cervix squamous epitheliumUBERON:000692270.20silver quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes3.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting KRT24, 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-548AW99.9972.573559
HSA-MIR-548AB99.9571.313488
HSA-MIR-55999.9572.283609
HSA-MIR-548A-5P99.9471.273482
HSA-MIR-548AD-5P99.9471.233502
HSA-MIR-548AE-5P99.9471.233502
HSA-MIR-548AK99.9471.243488
HSA-MIR-548AM-5P99.9471.243488
HSA-MIR-548AP-5P99.9471.143489
HSA-MIR-548AQ-5P99.9471.343426
HSA-MIR-548AR-5P99.9471.283515
HSA-MIR-548AS-5P99.9471.223482
HSA-MIR-548AU-5P99.9471.243488
HSA-MIR-548AY-5P99.9471.233502
HSA-MIR-548B-5P99.9471.233502
HSA-MIR-548BB-5P99.9471.273509
HSA-MIR-548C-5P99.9471.243488
HSA-MIR-548D-5P99.9471.233502
HSA-MIR-548H-5P99.9471.243488
HSA-MIR-548I99.9471.253481
HSA-MIR-548J-5P99.9471.143489
HSA-MIR-548O-5P99.9471.243488
HSA-MIR-548W99.9471.243488
HSA-MIR-548Y99.9471.283514
HSA-MIR-10527-5P99.9172.283754
HSA-MIR-990299.8969.152250
HSA-MIR-548AJ-5P99.7871.123085
HSA-MIR-548F-5P99.7871.023093
HSA-MIR-548G-5P99.7871.123085
HSA-MIR-548X-5P99.7871.123085

Functional genomics

ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 5)

  • KRT24 encodes a new keratin protein that bears high similarity to the type I keratins and displays a unique expression profile; sequence aberrations were not found in Naegeli-Franceschetti-Jadassohn syndrome (PMID:12230514)
  • K24 may be suggested as a potential differentiation marker and anti-proliferative factor in the epidermis. (PMID:28362807)
  • the keratinocyte differentiation marker Keratin 24 is expressed in our dermo-epidermal skin substitutes in a normal pattern. This highlights that our bio-engineered skin analogs mature and reach homeostasis in an in vivo assay. (PMID:29039047)
  • Relative gene expression analysis of human pterygium tissues and UV radiation-evoked gene expression patterns in corneal and conjunctival cells. (PMID:32822701)
  • Identification of cytokeratin24 as a tumor suppressor for the management of head and neck cancer. (PMID:34450690)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusKrt24ENSMUSG00000020913
rattus_norvegicusKrt24ENSRNOG00000010970

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)

Protein

Protein identifiers

Keratin, type I cytoskeletal 24Q2M2I5 (reviewed: Q2M2I5)

Alternative names: Cytokeratin-24, Keratin-24, Type I keratin-24

All UniProt accessions (1): Q2M2I5

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Heterotetramer of two type I and two type II keratins.

Tissue specificity. Highly expressed in keratinocytes, placenta, colon and spleen. Expressed at lower level in thymus and testis.

Induction. Up-regulated in the mucosa of patients suffering of colorectal cancer.

Miscellaneous. There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (1): NP_061889* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002957Keratin_IFamily
IPR018039IF_conservedConserved_site
IPR039008IF_rod_domDomain

Pfam: PF00038

UniProt features (20 total): region of interest 9, sequence variant 7, chain 1, domain 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q2M2I5-F172.950.47

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

IDPathway
R-HSA-6805567Keratinization
R-HSA-6809371Formation of the cornified envelope
R-HSA-9725554Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
R-HSA-1266738Developmental Biology
R-HSA-9734767Developmental Cell Lineages

MSigDB gene sets: 56 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, MODULE_151, CEBP_Q2, GOBP_TISSUE_MORPHOGENESIS, MODULE_114, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_DN, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, RICKMAN_HEAD_AND_NECK_CANCER_E, GOBP_SUPRAMOLECULAR_FIBER_ORGANIZATION, GOCC_SUPRAMOLECULAR_COMPLEX

GO Biological Process (3): morphogenesis of an epithelium (GO:0002009), epithelial cell differentiation (GO:0030855), intermediate filament organization (GO:0045109)

GO Molecular Function (3): structural constituent of skin epidermis (GO:0030280), structural molecule activity (GO:0005198), protein binding (GO:0005515)

GO Cellular Component (5): cytosol (GO:0005829), cytoskeleton (GO:0005856), keratin filament (GO:0045095), extracellular exosome (GO:0070062), intermediate filament (GO:0005882)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
Developmental Biology2
Keratinization1
Developmental Cell Lineages of the Integumentary System1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
epithelium development2
tissue morphogenesis1
cell differentiation1
intermediate filament cytoskeleton organization1
supramolecular fiber organization1
structural molecule activity1
molecular_function1
binding1
cytoplasm1
cellular anatomical structure1
intracellular membraneless organelle1
intermediate filament1
extracellular vesicle1
intermediate filament cytoskeleton1
polymeric cytoskeletal fiber1

Protein interactions and networks

STRING

874 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KRT24MEOX1P50221827
KRT24ZNF219Q9P2Y4430
KRT24KRTAP13-2Q52LG2408
KRT24KRTAP19-6Q3LI70380
KRT24PIK3R5Q8WYR1377
KRT24C11orf86A6NJI1375
KRT24SPRR2FQ96RM1367
KRT24SPRR2EP22531349
KRT24GJA1P17302330
KRT24PLEKHH3Q7Z736330
KRT24HSPB9Q9BQS6326
KRT24SPRR2DP22532321
KRT24SMCO2A6NFE2320
KRT24SPRR2AP35326315
KRT24ACTC1P04270313

IntAct

121 interactions, top by confidence:

ABTypeScore
SNAPINKRT24psi-mi:“MI:0915”(physical association)0.600
KRT24KRT80psi-mi:“MI:0915”(physical association)0.560
KRT4KRT24psi-mi:“MI:0915”(physical association)0.560
KRT24TRIML2psi-mi:“MI:0915”(physical association)0.560
KRT24C1orf216psi-mi:“MI:0915”(physical association)0.560
KRT24KRT71psi-mi:“MI:0915”(physical association)0.560
KRT8KRT24psi-mi:“MI:0915”(physical association)0.560
KRT5KRT24psi-mi:“MI:0915”(physical association)0.560
KRT24CCDC146psi-mi:“MI:0915”(physical association)0.560
KRT24KRT79psi-mi:“MI:0915”(physical association)0.560
KRT6CKRT24psi-mi:“MI:0915”(physical association)0.560
HGSKRT24psi-mi:“MI:0915”(physical association)0.560
KRT1KRT24psi-mi:“MI:0915”(physical association)0.560
KRT24ABI3psi-mi:“MI:0915”(physical association)0.560
KRT24AIRIMpsi-mi:“MI:0915”(physical association)0.560
KRT24AARDpsi-mi:“MI:0915”(physical association)0.560
KRT24RCOR3psi-mi:“MI:0915”(physical association)0.560
KRT75KRT24psi-mi:“MI:0915”(physical association)0.560
BFSP2KRT24psi-mi:“MI:0915”(physical association)0.560
KRT24TSGA10IPpsi-mi:“MI:0915”(physical association)0.560
ODAD3KRT24psi-mi:“MI:0915”(physical association)0.560
KRT24TCHPpsi-mi:“MI:0915”(physical association)0.560
KRT3KRT24psi-mi:“MI:0915”(physical association)0.560
KRT24CCHCR1psi-mi:“MI:0915”(physical association)0.560
PRPHKRT24psi-mi:“MI:0915”(physical association)0.560
AMOTKRT24psi-mi:“MI:0915”(physical association)0.560
KRT72KRT24psi-mi:“MI:0915”(physical association)0.560
KRT24ABI2psi-mi:“MI:0915”(physical association)0.560
TXLNAKRT24psi-mi:“MI:0915”(physical association)0.560

BioGRID (62): KRT24 (Two-hybrid), KRT24 (Affinity Capture-MS), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid)

ESM2 similar proteins: A1L317, A1L595, A5A6N2, A6BLY7, B1AQ75, E1AB55, O76013, P02533, P08730, P08779, P13646, P19012, Q0P5J4, Q0P5J6, Q0P5J7, Q148H5, Q148H6, Q148H8, Q2M2I5, Q3UV17, Q497I4, Q61414, Q61781, Q64291, Q6IFU7, Q6IFU8, Q6IFV1, Q6IFV3, Q6IFV4, Q6IFW6, Q6IFW8, Q6IFX0, Q6IFX1, Q6IFX2, Q6NXH9, Q6R649, Q6R650, Q7Z3Y7, Q7Z3Y8, Q7Z3Y9

Diamond homologs: A1KQY9, A1L317, A1L595, A5A6M0, A5A6M5, A5A6N2, A5A6P3, A6BLY7, A6QQQ9, A7YWM2, B0LKP1, B1AQ75, O57607, O57611, O76009, O76013, O77727, O93256, P02533, P02534, P02535, P02537, P05781, P05783, P05784, P06394, P08727, P08728, P08730, P08777, P08778, P08779, P08802, P13645, P13646, P19001, P19012, P25030, P25690, P35527

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 57 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Formation of the cornified envelope1227.0×2e-12
Keratinization1217.1×2e-10
Macroautophagy514.8×7e-04
Neddylation1113.4×2e-08

GO biological processes:

GO termPartnersFoldFDR
intermediate filament organization1358.0×1e-17
keratinization1043.3×4e-12
intrinsic apoptotic signaling pathway639.8×7e-07
autophagosome maturation639.0×7e-07
mitophagy635.3×1e-06
G1/S transition of mitotic cell cycle622.3×1e-05
autophagosome assembly520.8×2e-04
protein ubiquitination75.4×9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance75
Likely benign7
Benign5

Top pathogenic / likely-pathogenic (0)

SpliceAI

969 predictions. Top by Δscore:

VariantEffectΔscore
17:40699442:AC:Adonor_gain1.0000
17:40699443:CC:Cdonor_gain1.0000
17:40699446:T:Adonor_gain1.0000
17:40699452:T:Adonor_gain1.0000
17:40699489:T:TAdonor_gain1.0000
17:40699657:CTTTT:Cacceptor_gain1.0000
17:40699658:TTTT:Tacceptor_gain1.0000
17:40699659:TTT:Tacceptor_gain1.0000
17:40699660:TT:Tacceptor_gain1.0000
17:40699662:C:CCacceptor_gain1.0000
17:40700122:CT:Cacceptor_gain1.0000
17:40700217:TCTA:Tdonor_loss1.0000
17:40700218:CTA:Cdonor_loss1.0000
17:40700219:TA:Tdonor_loss1.0000
17:40700220:ACCT:Adonor_loss1.0000
17:40700221:C:Tdonor_loss1.0000
17:40700221:CCTG:Cdonor_gain1.0000
17:40700224:G:Adonor_gain1.0000
17:40700380:TTTC:Tacceptor_gain1.0000
17:40700381:TTC:Tacceptor_gain1.0000
17:40700382:TC:Tacceptor_gain1.0000
17:40700383:CC:Cacceptor_gain1.0000
17:40700384:C:CCacceptor_gain1.0000
17:40700384:C:CGacceptor_loss1.0000
17:40700388:CA:Cacceptor_gain1.0000
17:40700389:A:ACacceptor_gain1.0000
17:40700389:A:Cacceptor_gain1.0000
17:40700389:A:Tacceptor_gain1.0000
17:40701136:CTACC:Cdonor_loss1.0000
17:40701137:TACC:Tdonor_loss1.0000

AlphaMissense

3411 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:40700253:C:GR329P0.987
17:40700231:G:CF336L0.982
17:40700231:G:TF336L0.982
17:40700233:A:GF336L0.982
17:40700285:C:AR318S0.982
17:40700285:C:GR318S0.982
17:40700017:A:GL375P0.979
17:40700245:C:GA332P0.976
17:40700298:A:GL314P0.975
17:40700266:C:GA325P0.970
17:40703242:A:GL151S0.968
17:40701882:C:GA223P0.967
17:40701296:C:AK233N0.966
17:40701296:C:GK233N0.966
17:40700286:C:GR318T0.965
17:40701222:A:GL258P0.964
17:40700044:C:GR366P0.960
17:40703245:C:GR150P0.960
17:40700012:A:GS377P0.955
17:40700286:C:AR318M0.952
17:40703240:C:GA152P0.952
17:40700029:A:GL371P0.951
17:40700050:A:GL364P0.951
17:40700232:A:GF336S0.950
17:40700310:A:GL310P0.950
17:40701870:C:GA227P0.949
17:40703204:C:GA164P0.947
17:40703254:A:GL147P0.947
17:40700268:A:GL324P0.941
17:40701240:C:GR252P0.938

dbSNP variants (sampled 300 via entrez): RS1000112551 (17:40698875 A>T), RS1000575503 (17:40694228 C>G), RS1001591765 (17:40702750 C>A), RS1001738220 (17:40701811 T>A), RS1001871686 (17:40704358 T>C), RS1001925647 (17:40704070 G>A), RS1001966932 (17:40696569 C>G,T), RS1002000288 (17:40702966 G>A), RS1002216630 (17:40697307 T>A,C), RS1003522876 (17:40699179 C>T), RS1003543035 (17:40705655 A>G), RS1003596800 (17:40705364 T>A), RS1003911783 (17:40697563 G>A,T), RS1004088996 (17:40702621 T>A), RS1004272576 (17:40701753 A>G,T)

Disease associations

OMIM: gene MIM:607742 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

StudyTraitp-value
GCST003075_26Cognitive decline rate in late mild cognitive impairment2.000000e-07
GCST003075_59Cognitive decline rate in late mild cognitive impairment2.000000e-07
GCST007563_12Allergic disease (asthma, hay fever or eczema)2.000000e-16
GCST007564_26Asthma or allergic disease (pleiotropy)1.000000e-15
GCST007798_120Asthma5.000000e-17
GCST008916_33Asthma3.000000e-10
GCST009798_41Asthma3.000000e-08
GCST009798_47Asthma3.000000e-10

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0007710cognitive decline measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

ChemicalActions (top 5)PubMed papers
pyrogallol 1,3-dimethyl etherincreases expression, affects localization, decreases expression, affects cotreatment1
butyraldehydeincreases expression1
hydroquinonedecreases expression1
perfluorooctane sulfonic acidincreases expression1
perfluoro-n-nonanoic acidincreases expression1
Cytarabinedecreases expression1
Furaldehydeaffects cotreatment, increases expression, affects localization, decreases expression1
Sodium Chlorideaffects cotreatment, decreases expression, affects localization, increases expression1
Tobacco Smoke Pollutionincreases expression1
Triclosanincreases expression1
Aflatoxin B1increases methylation1
Lactic Aciddecreases expression1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.