KRTAP5-2

Summary

KRTAP5-2 (keratin associated protein 5-2, HGNC:23597) is a protein-coding gene on chromosome 11p15.5, encoding Keratin-associated protein 5-2 (Q701N4). In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linki….

Predicted to be located in cytosol.

Source: NCBI Gene 440021 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 36 total
• MANE Select transcript: NM_001004325

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23597
Approved symbol	KRTAP5-2
Name	keratin associated protein 5-2
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP5.2, KRTAP5-8
Ensembl gene	ENSG00000205867
Ensembl biotype	protein_coding
Entrez	440021

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000412090

RefSeq mRNA: 1 — MANE Select: NM_001004325 NM_001004325

CCDS: CCDS31331

Canonical transcript exons

ENST00000412090 — 1 exons

Exon	Start	End
ENSE00001667178	1597177	1598294

Expression profiles

Bgee: expression breadth broad, 77 present calls, max score 67.28.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
prefrontal cortex	UBERON:0000451	67.28	gold quality
frontal cortex	UBERON:0001870	57.18	gold quality
primary visual cortex	UBERON:0002436	54.49	gold quality
cerebellum	UBERON:0002037	54.33	gold quality
cerebellar hemisphere	UBERON:0002245	54.07	gold quality
cerebellar cortex	UBERON:0002129	53.80	gold quality
right hemisphere of cerebellum	UBERON:0014890	53.52	gold quality
duodenum	UBERON:0002114	48.67	gold quality
granulocyte	CL:0000094	48.30	silver quality
tonsil	UBERON:0002372	47.46	silver quality
mucosa of transverse colon	UBERON:0004991	46.90	gold quality
superior frontal gyrus	UBERON:0002661	46.71	gold quality
sural nerve	UBERON:0015488	46.47	silver quality
cerebral cortex	UBERON:0000956	45.77	gold quality
right frontal lobe	UBERON:0002810	43.44	gold quality
brain	UBERON:0000955	42.74	gold quality
Brodmann (1909) area 9	UBERON:0013540	42.18	gold quality
apex of heart	UBERON:0002098	41.75	silver quality
gall bladder	UBERON:0002110	40.66	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	40.32	gold quality
skeletal muscle tissue	UBERON:0001134	40.16	silver quality
hypothalamus	UBERON:0001898	39.97	gold quality
muscle tissue	UBERON:0002385	39.35	silver quality
anterior cingulate cortex	UBERON:0009835	39.15	gold quality
nucleus accumbens	UBERON:0001882	37.96	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
caudate nucleus	UBERON:0001873	37.12	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
putamen	UBERON:0001874	36.26	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting KRTAP5-2, 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-4533	100.00	69.48	2758
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-5011-3P	98.63	64.81	638
HSA-MIR-6754-5P	98.60	65.54	1627
HSA-MIR-1199-5P	98.44	66.51	829
HSA-MIR-6751-3P	98.44	66.35	835
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-211-3P	98.14	66.77	1052
HSA-MIR-4518	98.12	66.82	1030
HSA-MIR-1266-5P	97.71	66.92	1052
HSA-MIR-493-3P	97.50	66.44	731
HSA-MIR-12128	96.67	66.98	1471
HSA-MIR-1245A	96.33	66.25	498
HSA-MIR-8079	96.33	66.11	484
HSA-MIR-139-3P	95.24	63.10	316
HSA-MIR-6750-5P	93.94	66.68	797

Literature-anchored findings (GeneRIF, showing 1)

• CK7 and Cam 5.2 expression may occur in SCC. A panel including Ber-Ep4 is advisable for immunohistochemical differentiation of EPD from SCC. (PMID:23590728)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krtap5-4	ENSMUSG00000045236
mus_musculus	Krtap5-1	ENSMUSG00000066100
mus_musculus	Krtap5-5	ENSMUSG00000073785
mus_musculus	Krtap5-22	ENSMUSG00000109655

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), KRTAP16-1 (ENSG00000212657), KRTAP9-6 (ENSG00000212659), KRTAP4-11 (ENSG00000212721), KRTAP4-9 (ENSG00000212722), KRTAP2-3 (ENSG00000212724), 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 5-2 — Q701N4 (reviewed: Q701N4)

Alternative names: Keratin-associated protein 5-8, Keratin-associated protein 5.2, Keratin-associated protein 5.8, Ultrahigh sulfur keratin-associated protein 5.2

All UniProt accessions (1): Q701N4

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 protein (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.

Tissue specificity. Restricted to hair root, not detected in any other tissues.

Similarity. Belongs to the KRTAP type 5 family.

RefSeq proteins (1): NP_001004325* (*=MANE)

Domains & families (InterPro)

UniProt features (8 total): repeat 6, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q701N4-F1	39.47	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: 47 (showing top): DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, chr11q13, MARTINEZ_RB1_TARGETS_DN, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, LEE_AGING_MUSCLE_UP, DURCHDEWALD_SKIN_CARCINOGENESIS_UP, MULLIGHAN_MLL_SIGNATURE_2_DN, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, MULLIGHAN_MLL_SIGNATURE_1_DN, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, MIKKELSEN_MEF_LCP_WITH_H3K27ME3, FIGUEROA_AML_METHYLATION_CLUSTER_1_DN

GO Biological Process (0):

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

GO Cellular Component (2): cytosol (GO:0005829), 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 cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

114 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP5-2	OR6X1	Q8NH79	166
KRTAP5-2	OR6F1	Q8NGZ6	166
KRTAP5-2	ACTR5	Q9H9F9	102
KRTAP5-2	INO80C	Q6PI98	99
KRTAP5-2	K7ENP7	K7ENP7	99
KRTAP5-2	RUVBL1	P82276	90
KRTAP5-2	RUVBL2	Q9Y230	90
KRTAP5-2	OR1J4	Q8NGS1	77
KRTAP5-2	ACTL6B	O94805	67
KRTAP5-2	ACTR8	Q9H981	66
KRTAP5-2	KRTAP11-1	Q8IUC1	62
KRTAP5-2	KRT74	Q7RTS7	53
KRTAP5-2	KRT71	Q3SY84	44
KRTAP5-2	FUCA2	Q9BTY2	0
KRTAP5-2	NUFIP2	Q7Z417	0
KRTAP5-2	EMC7	Q9NPA0	0
KRTAP5-2	CHD5	Q8TDI0	0

IntAct

152 interactions, top by confidence:

A	B	Type	Score
KRTAP5-2	KRTAP9-2	psi-mi:“MI:0915”(physical association)	0.600
KRTAP5-2	LELP1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-2	UBE2I	psi-mi:“MI:0915”(physical association)	0.560
LCE3C	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
LCE1E	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
LCE2D	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
LCE2C	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-2	LCE1B	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-2	KRTAP4-5	psi-mi:“MI:0915”(physical association)	0.560
LCE3B	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-2	MACO1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-6	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-2	LMNTD2	psi-mi:“MI:0915”(physical association)	0.560
OPCML	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
LCE1F	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
CRY2	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-2	CRCT1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
TACSTD2	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
LCE3E	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-2	DHRS1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-2	KRTAP2-4	psi-mi:“MI:0915”(physical association)	0.560
MT1B	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-4	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
DLGAP3	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
HOXA1	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (61): KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (Two-hybrid), KRTAP5-2 (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

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 45 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:

Pathway	Partners	Fold	FDR
Keratinization	24	39.3×	2e-33
Formation of the cornified envelope	15	38.8×	2e-19

GO biological processes:

GO term	Partners	Fold	FDR
keratinization	14	99.3×	1e-23

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

777 predictions. Top by Δscore:

Variant	Effect	Δscore
11:71538228:G:T	donor_gain	0.9700
11:71538501:G:GG	donor_gain	0.9700
11:1598083:A:C	donor_gain	0.9600
11:71538498:GCT:G	donor_gain	0.9600
11:1598099:C:A	donor_gain	0.9500
11:1598020:G:C	donor_gain	0.9400
11:1598181:A:AT	donor_gain	0.9400
11:71538202:C:G	donor_gain	0.9400
11:71538227:G:GT	donor_gain	0.9400
11:71538524:GGCT:G	donor_gain	0.9400
11:71538525:GCTG:G	donor_gain	0.9400
11:71538668:G:GT	donor_gain	0.9400
11:71538669:A:T	donor_gain	0.9400
11:1598038:TGG:T	donor_gain	0.9200
11:1597509:C:CT	acceptor_gain	0.9100
11:1597509:C:T	acceptor_gain	0.9100
11:1598098:T:TA	donor_gain	0.9100
11:71538123:G:T	donor_gain	0.9100
11:1597421:C:T	acceptor_gain	0.9000
11:1597994:C:A	donor_gain	0.9000
11:1597421:C:CT	acceptor_gain	0.8900
11:1598055:CGGG:C	donor_gain	0.8900
11:1598224:G:GA	donor_gain	0.8900
11:71538750:GGC:G	donor_gain	0.8900
11:1597514:C:CT	acceptor_gain	0.8800
11:71538123:G:GT	donor_gain	0.8700
11:71538437:GGCT:G	donor_gain	0.8700
11:71538438:GCTG:G	donor_gain	0.8700
11:71538727:GAC:G	donor_gain	0.8600
11:1598180:C:CT	donor_gain	0.8500

AlphaMissense

1142 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:1597721:A:C	I177S	0.671
11:1597843:G:C	S136R	0.627
11:1597843:G:T	S136R	0.627
11:1597845:T:G	S136R	0.627
11:1597813:G:C	S146R	0.620
11:1597813:G:T	S146R	0.620
11:1597815:T:G	S146R	0.620
11:1597783:G:C	S156R	0.617
11:1597783:G:T	S156R	0.617
11:1597785:T:G	S156R	0.617
11:1597891:C:A	K120N	0.603
11:1597891:C:G	K120N	0.603
11:1597723:C:A	K176N	0.592
11:1597723:C:G	K176N	0.592
11:1597721:A:G	I177T	0.581

dbSNP variants (sampled 300 via entrez): RS1000050507 (11:1599360 A>G), RS1004681179 (11:1597189 C>A,T), RS1005243444 (11:1596975 T>TC), RS1006639209 (11:1600087 C>A,T), RS1006811142 (11:1599154 C>A,T), RS1007169784 (11:1599532 A>G), RS1008194326 (11:1596864 C>A,T), RS1012230484 (11:1599000 A>G), RS1015275259 (11:1597197 G>A), RS1015866895 (11:1598642 T>C), RS1016818572 (11:1599806 C>T), RS1017276425 (11:1600097 G>C,T), RS1019747468 (11:1597846 G>A), RS1019915227 (11:1599190 G>T), RS1021349136 (11:1597286 A>G,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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Leflunomide	increases expression	1
Cadmium	increases expression	1
Aflatoxin B1	increases methylation	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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