KRTAP2-3

Summary

KRTAP2-3 (keratin associated protein 2-3, HGNC:18906) is a protein-coding gene on chromosome 17q21.2, encoding Keratin-associated protein 2-3 (P0C7H8). In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-link….

Predicted to be located in cytosol.

Source: NCBI Gene 730755 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 26 total
• MANE Select transcript: NM_001165252

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18906
Approved symbol	KRTAP2-3
Name	keratin associated protein 2-3
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	KAP2.3
Ensembl gene	ENSG00000212724
Ensembl biotype	protein_coding
Entrez	730755

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000391418

RefSeq mRNA: 1 — MANE Select: NM_001165252 NM_001165252

CCDS: CCDS54123

Canonical transcript exons

ENST00000391418 — 1 exons

Exon	Start	End
ENSE00001509200	41059240	41060114

Expression profiles

Bgee: expression breadth broad, 29 present calls, max score 62.34.

FANTOM5 (CAGE): breadth broad, TPM avg 0.6620 / max 58.6397, expressed in 270 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165870	0.5413	220
165871	0.1207	55

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	62.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	46.07	silver quality
stromal cell of endometrium	CL:0002255	42.39	silver quality
lower esophagus mucosa	UBERON:0035834	39.39	gold quality
cortex of kidney	UBERON:0001225	39.32	gold quality
pancreas	UBERON:0001264	39.05	gold quality
skin of abdomen	UBERON:0001416	38.88	gold quality
placenta	UBERON:0001987	38.26	gold quality
metanephros cortex	UBERON:0010533	37.76	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
zone of skin	UBERON:0000014	36.83	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
smooth muscle tissue	UBERON:0001135	35.74	gold quality
muscle tissue	UBERON:0002385	35.64	silver quality
skin of leg	UBERON:0001511	35.50	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
right lung	UBERON:0002167	31.97	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
kidney	UBERON:0002113	30.68	silver quality
minor salivary gland	UBERON:0001830	30.57	gold quality
saliva-secreting gland	UBERON:0001044	30.45	gold quality
vermiform appendix	UBERON:0001154	29.87	silver quality
liver	UBERON:0002107	29.40	silver quality
ectocervix	UBERON:0012249	29.05	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-124858	no	55.22
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

43 targeting KRTAP2-3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-5689	99.50	71.26	1154
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-216A-5P	99.50	68.02	1288
HSA-MIR-653-5P	99.46	67.35	1300
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-936	98.87	70.51	1124
HSA-MIR-2355-5P	98.83	65.51	1589

Literature-anchored findings (GeneRIF, showing 1)

• TGF-beta generates a population of cancer cells residing in G1 phase with high motility and metastatic potential via KRTAP2-3. (PMID:36170816)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krtap5-2	ENSMUSG00000054759
mus_musculus	Krtap5-20	ENSMUSG00000056885
mus_musculus	Krtap5-26	ENSMUSG00000109859
mus_musculus	Krtap5-24	ENSMUSG00000110324
rattus_norvegicus	Krtap5-8	ENSRNOG00000020131
rattus_norvegicus	AABR07006049.1	ENSRNOG00000046649

Paralogs (47): KRTAP4-4 (ENSG00000171396), KRTAP9-7 (ENSG00000180386), KRTAP5-5 (ENSG00000185940), KRTAP12-1 (ENSG00000187175), KRTAP9-8 (ENSG00000187272), KRTAP10-8 (ENSG00000187766), KRTAP10-6 (ENSG00000188155), KRTAP1-1 (ENSG00000188581), KRTAP10-12 (ENSG00000189169), KRTAP4-3 (ENSG00000196156), KRTAP9-9 (ENSG00000198083), KRTAP4-6 (ENSG00000198090), KRTAP4-5 (ENSG00000198271), KRTAP4-1 (ENSG00000198443), KRTAP9-3 (ENSG00000204873), KRTAP4-8 (ENSG00000204880), KRTAP1-4 (ENSG00000204887), KRTAP12-3 (ENSG00000205439), KRTAP10-2 (ENSG00000205445), KRTAP5-6 (ENSG00000205864), KRTAP5-2 (ENSG00000205867), KRTAP16-1 (ENSG00000212657), KRTAP9-6 (ENSG00000212659), KRTAP4-11 (ENSG00000212721), KRTAP4-9 (ENSG00000212722), KRTAP2-1 (ENSG00000212725), KRTAP10-3 (ENSG00000212935), KRTAP4-12 (ENSG00000213416), KRTAP2-4 (ENSG00000213417), KRTAP2-2 (ENSG00000214518), KRTAP10-4 (ENSG00000215454), KRTAP10-1 (ENSG00000215455), KRTAP10-9 (ENSG00000221837), KRTAP1-5 (ENSG00000221852), KRTAP10-10 (ENSG00000221859), KRTAP12-2 (ENSG00000221864), KRTAP1-3 (ENSG00000221880), KRTAP9-2 (ENSG00000239886), KRTAP9-1 (ENSG00000240542), KRTAP4-7 (ENSG00000240871)

Protein

Protein identifiers

Keratin-associated protein 2-3 — P0C7H8 (reviewed: P0C7H8)

Alternative names: High sulfur keratin-associated protein 2.4, Keratin-associated protein 2.3

All UniProt accessions (1): P0C7H8

UniProt curated annotations — full annotation on UniProt →

Function. In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Subunit / interactions. Interacts with hair keratins.

Similarity. Belongs to the KRTAP type 2 family.

RefSeq proteins (1): NP_001158724* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family
IPR052154	KRTAP_type_2-like	Family

Pfam: PF01500

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C7H8-F1	32.82	0.00

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6805567	Keratinization
R-HSA-1266738	Developmental Biology

MSigDB gene sets: 25 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, SENESE_HDAC3_TARGETS_DN, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, BILD_MYC_ONCOGENIC_SIGNATURE, CHICAS_RB1_TARGETS_CONFLUENT, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, IGLV5_37_TARGET_GENES, LHX9_TARGET_GENES, MIR148A_3P, MIR514B_5P, MIR513C_5P

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): cytosol (GO:0005829), keratin filament (GO:0045095), intermediate filament (GO:0005882)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cytoplasm	1
cellular anatomical structure	1
intermediate filament	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

332 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP2-3	KRTAP3-2	Q9BYR7	571
KRTAP2-3	KRTAP9-8	Q9BYQ0	547
KRTAP2-3	KRTAP24-1	Q3LI83	533
KRTAP2-3	KRTAP1-1	Q07627	507
KRTAP2-3	KRTAP9-7	A8MTY7	507
KRTAP2-3	KRT34	O76011	507
KRTAP2-3	KRTAP10-9	P60411	506
KRTAP2-3	KRTAP10-3	P60369	474
KRTAP2-3	KRTAP10-4	P60372	450
KRTAP2-3	KRTAP10-11	P60412	447
KRTAP2-3	KRTAP4-1	Q9BYQ7	447
KRTAP2-3	KRTAP1-5	Q9BYS1	446
KRTAP2-3	KRTAP13-3	Q3SY46	446
KRTAP2-3	KRTAP3-1	Q9BYR8	444
KRTAP2-3	KRTAP1-4	P0C5Y4	434

IntAct

31 interactions, top by confidence:

A	B	Type	Score
	KRTAP2-3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP2-3	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.560
RPS28	KRTAP2-3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP2-3	ADAMTSL3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP2-3	CBX2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP2-3	CNNM3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP2-3	PTPMT1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP2-3	TMEM190	psi-mi:“MI:0915”(physical association)	0.560
KRTAP2-3	ZNF587	psi-mi:“MI:0915”(physical association)	0.560
SHFL	KRTAP2-3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP2-3		psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-5	KRTAP2-3	psi-mi:“MI:0915”(physical association)	0.560
PTPMT1	KRTAP2-3	psi-mi:“MI:0915”(physical association)	0.560
TMEM190	KRTAP2-3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP2-3	SHFL	psi-mi:“MI:0915”(physical association)	0.560
KRTAP2-3	RPS28	psi-mi:“MI:0915”(physical association)	0.560
CBX2	KRTAP2-3	psi-mi:“MI:0915”(physical association)	0.560
ZNF587	KRTAP2-3	psi-mi:“MI:0915”(physical association)	0.560
ADAMTSL3	KRTAP2-3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (199): KRTAP2-4 (Two-hybrid), KRTAP2-4 (Two-hybrid), KRTAP2-4 (Two-hybrid), KRTAP2-4 (Two-hybrid), KRTAP2-4 (Two-hybrid), KRTAP2-4 (Two-hybrid), PTPMT1 (Two-hybrid), TMEM190 (Two-hybrid), KRTAP10-1 (Two-hybrid), KRTAP10-5 (Two-hybrid), KRTAP2-4 (Two-hybrid), KRTAP2-3 (Two-hybrid), KRTAP2-4 (Two-hybrid), KRTAP2-3 (Two-hybrid), KRTAP2-4 (Two-hybrid)

ESM2 similar proteins: A5A6P5, A6QP35, A8MTY7, A8MVA2, A8MXZ3, O75690, P02438, P02441, P02442, P02443, P08131, P0C7H8, P26371, P59990, P59991, P60014, P60331, P60368, P60369, P60370, P60371, P60372, P60409, P60410, P60411, P60412, P60413, Q05B44, Q07627, Q3V2C1, Q6L8G4, Q6L8G8, Q6L8G9, Q6L8H2, Q701N4, Q8IUG1, Q9BQ66, Q9BYP9, Q9BYQ0, Q9BYQ2

Diamond homologs: P02441, P02442, P02443, P0C7H8, Q9BYR9, Q9BYT5, Q9BYU5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

260 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41059839:T:TA	donor_gain	0.8900
17:41059504:A:C	acceptor_gain	0.7200
17:41059581:T:C	donor_gain	0.6700
17:41060009:G:C	donor_gain	0.6700
17:41059413:CT:C	donor_gain	0.6600
17:41059412:A:AC	donor_gain	0.6400
17:41059413:C:CC	donor_gain	0.6400
17:41059786:A:T	donor_gain	0.6200
17:41059864:A:T	donor_gain	0.6200
17:41059307:AT:A	donor_gain	0.6100
17:41059308:T:TA	donor_gain	0.6000
17:41059502:T:TC	acceptor_gain	0.5900
17:41059667:G:C	donor_gain	0.5900
17:41059783:TGCAC:T	donor_gain	0.5800
17:41059304:ATTAT:A	donor_gain	0.5600
17:41059623:CACC:C	donor_loss	0.5600
17:41059624:A:AG	donor_loss	0.5600
17:41059625:C:CC	donor_loss	0.5600
17:41059639:G:C	acceptor_gain	0.5600
17:41059678:T:TA	donor_gain	0.5600
17:41059789:C:CT	donor_gain	0.5600
17:41059542:G:A	donor_gain	0.5500
17:41059626:C:G	donor_loss	0.5500
17:41059620:GTGCA:G	donor_loss	0.5400
17:41059868:C:CT	donor_gain	0.5400
17:41060002:C:A	donor_gain	0.5400
17:41059642:C:CT	acceptor_gain	0.5300
17:41059737:TG:T	donor_gain	0.5300
17:41059504:A:AC	acceptor_gain	0.5200
17:41059869:G:T	donor_gain	0.5100

AlphaMissense

812 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000790444 (17:41058848 G>A), RS1003863763 (17:41059951 C>A,T), RS1004762415 (17:41060641 G>C), RS1004872984 (17:41059498 A>C,G), RS1007136055 (17:41060425 C>T), RS1009205258 (17:41058869 A>G), RS1009262418 (17:41059088 A>G), RS1009574486 (17:41061803 A>G), RS1009956382 (17:41061501 T>A,C), RS1010884682 (17:41060074 G>T), RS1010935705 (17:41060293 C>G), RS1011284094 (17:41061660 G>A), RS1014145998 (17:41061094 G>A), RS1015463729 (17:41059321 A>G), RS1016486667 (17:41062091 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

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

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Valproic Acid	affects expression, decreases methylation, increases expression	3
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
(+)-JQ1 compound	decreases expression	2
Cadmium	increases expression, decreases expression, increases abundance	2
bisphenol A	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
didecyldimethylammonium	decreases expression	1
gallium arsenide	increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
incobotulinumtoxinA	decreases expression	1
tianma gouteng yin	decreases expression	1
Ethanol	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Cannabidiol	increases expression	1
Estradiol	decreases expression	1
Formaldehyde	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Rotenone	decreases expression	1
Silicon Dioxide	increases expression	1
Silver	increases expression	1
Smoke	increases expression	1
Thiram	increases expression	1

Clinical trials (associated diseases)

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