KRTAP10-2

Summary

KRTAP10-2 (keratin associated protein 10-2, HGNC:22967) is a protein-coding gene on chromosome 21q22.3, encoding Keratin-associated protein 10-2 (P60368). 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….

This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. This gene is located in a cluster of similar genes on 21q22.3. Alternatively-spliced transcript variants have been identified.

Source: NCBI Gene 386679 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 43 total — 1 pathogenic
• MANE Select transcript: NM_198693

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22967
Approved symbol	KRTAP10-2
Name	keratin associated protein 10-2
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Aliases	KAP10.2, KAP18.2
Ensembl gene	ENSG00000205445
Ensembl biotype	protein_coding
Entrez	386679

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000391621, ENST00000498210

RefSeq mRNA: 1 — MANE Select: NM_198693 NM_198693

CCDS: CCDS42955

Canonical transcript exons

ENST00000391621 — 1 exons

Exon	Start	End
ENSE00001509399	44550357	44551505

Expression profiles

Bgee: expression breadth broad, 25 present calls, max score 40.70.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	40.70	silver quality
skin of abdomen	UBERON:0001416	39.53	gold quality
zone of skin	UBERON:0000014	37.84	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
skin of leg	UBERON:0001511	36.79	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
fallopian tube	UBERON:0003889	36.09	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
right lung	UBERON:0002167	33.26	gold quality
blood	UBERON:0000178	32.68	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
prefrontal cortex	UBERON:0000451	30.17	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
vermiform appendix	UBERON:0001154	29.58	gold quality
right lobe of liver	UBERON:0001114	28.71	silver quality
tonsil	UBERON:0002372	28.56	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	27.90	gold quality
lymph node	UBERON:0000029	27.57	gold quality
muscle of leg	UBERON:0001383	27.48	gold quality
leukocyte	CL:0000738	27.39	gold quality
islet of Langerhans	UBERON:0000006	26.93	gold quality
gastrocnemius	UBERON:0001388	26.84	gold quality
monocyte	CL:0000576	26.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting KRTAP10-2, 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-4492	99.87	68.25	3611
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-6737-3P	98.95	68.56	1577
HSA-MIR-7157-3P	98.95	68.70	1582
HSA-MIR-5008-3P	98.73	67.50	1433
HSA-MIR-3907	96.76	65.04	662

Cross-species orthologs

0 orthologs

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), KRTAP5-6 (ENSG00000205864), KRTAP5-2 (ENSG00000205867), 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 10-2 — P60368 (reviewed: P60368)

Alternative names: High sulfur keratin-associated protein 10.2, Keratin-associated protein 10.2, Keratin-associated protein 18-2, Keratin-associated protein 18.2

All UniProt accessions (1): P60368

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.

Tissue specificity. Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.

Similarity. Belongs to the KRTAP type 10 family.

Isoforms (1)

UniProt ID	Names	Canonical?
P60368-1	1	yes

RefSeq proteins (1): NP_941966* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family

Pfam: PF13885

UniProt features (29 total): repeat 22, sequence variant 5, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P60368-F1	36.32	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: 10 (showing top): chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, MIKKELSEN_MCV6_LCP_WITH_H3K27ME3, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, WP_VITAMIN_D_RECEPTOR_PATHWAY, ANDERSON_BLOOD_CN54GP140_ADJUVANTED_WITH_GLA_AF_AGE_18_45YO_1DY_UP

GO Biological Process (0):

GO Molecular Function (0):

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
cytoplasm	1
cellular anatomical structure	1
intermediate filament	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

176 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP10-2	OR12D2	P58182	473
KRTAP10-2	SLX9	Q9NSI2	419
KRTAP10-2	TSPEAR	Q8WU66	395
KRTAP10-2	PXDC1	Q5TGL8	393
KRTAP10-2	ADCK1	Q86TW2	370
KRTAP10-2	KRT83	P78385	352
KRTAP10-2	DCP1B	Q8IZD4	336
KRTAP10-2	LRRC3	Q9BY71	336
KRTAP10-2	PTTG1IP	P53801	324
KRTAP10-2	SUPT3H	O75486	322
KRTAP10-2	FLVCR2	Q9UPI3	315
KRTAP10-2	PNRC2	Q9NPJ4	311
KRTAP10-2	STOX1	Q6ZVD7	304
KRTAP10-2	KRT81	Q14533	290
KRTAP10-2	SLIRP	Q9GZT3	290

IntAct

5 interactions, top by confidence:

A	B	Type	Score
KRTAP10-2	ECE1	psi-mi:“MI:0915”(physical association)	0.370
ECE1	KRTAP10-2	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (1): KRTAP10-2 (Positive Genetic)

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: P60014, P60331, P60368, P60369, P60370, P60371, P60409, P60411, P60412, P60413, P60372, A6QP35, P60410

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	35
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
816180	GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1	Pathogenic

SpliceAI

394 predictions. Top by Δscore:

Variant	Effect	Δscore
21:44550521:G:T	acceptor_gain	0.8900
21:44551379:CAG:C	donor_gain	0.8800
21:44551378:A:AC	donor_gain	0.8700
21:44551379:C:CC	donor_gain	0.8700
21:44551401:C:CT	donor_gain	0.8000
21:44551402:C:CT	donor_gain	0.7900
21:44551400:TCC:T	donor_gain	0.7800
21:44551310:A:AC	donor_gain	0.7700
21:44551311:C:CC	donor_gain	0.7700
21:44551407:G:A	donor_gain	0.7600
21:44551045:CTG:C	acceptor_gain	0.7500
21:44550520:C:CT	acceptor_gain	0.7000
21:44550880:G:A	donor_gain	0.6500
21:44550520:C:T	acceptor_gain	0.6400
21:44550908:A:T	donor_gain	0.6300
21:44550753:G:T	acceptor_gain	0.6100
21:44551016:G:C	donor_gain	0.6100
21:44550400:CGCTC:C	acceptor_gain	0.6000
21:44551048:C:CC	acceptor_gain	0.6000
21:44551249:G:GA	donor_gain	0.6000
21:44551399:GTC:G	donor_gain	0.6000
21:44550992:G:C	donor_gain	0.5900
21:44551166:G:A	donor_gain	0.5900
21:44551053:A:T	acceptor_gain	0.5800
21:44550991:A:AC	donor_gain	0.5700
21:44551052:C:CT	acceptor_gain	0.5700
21:44551398:CGT:C	donor_gain	0.5700
21:44550705:TTTG:T	donor_gain	0.5600
21:44550991:AGAG:A	donor_gain	0.5600
21:44551397:TCGTC:T	donor_gain	0.5600

AlphaMissense

1651 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:44551408:C:A	W17C	0.619
21:44551408:C:G	W17C	0.619
21:44551207:G:C	S84R	0.592
21:44551207:G:T	S84R	0.592
21:44551209:T:G	S84R	0.592
21:44551306:G:C	S51R	0.590
21:44551306:G:T	S51R	0.590
21:44551308:T:G	S51R	0.590
21:44551240:G:C	S73R	0.588
21:44551240:G:T	S73R	0.588
21:44551242:T:G	S73R	0.588

dbSNP variants (sampled 300 via entrez): RS1000174785 (21:44553115 G>A), RS1005461429 (21:44552271 C>T), RS1008861500 (21:44552359 G>C), RS1009018611 (21:44552525 C>T), RS1011285398 (21:44552804 C>A,T), RS1012327888 (21:44553170 T>C), RS1017614387 (21:44552530 C>A,T), RS1022303512 (21:44552807 C>G), RS1023315216 (21:44552916 T>C), RS1025363705 (21:44553495 C>A,T), RS1035134777 (21:44552864 C>T), RS1035208420 (21:44553130 G>A,T), RS1038204889 (21:44552305 G>A), RS1038723695 (21:44552462 C>A,T), RS1043848007 (21:44553309 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
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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