KRTAP22-2

Summary

KRTAP22-2 (keratin associated protein 22-2, HGNC:37091) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 22-2 (Q3LI68). 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 intermediate filament.

Source: NCBI Gene 100288287 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 7 total — 1 pathogenic
• MANE Select transcript: NM_001164434

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37091
Approved symbol	KRTAP22-2
Name	keratin associated protein 22-2
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	KAP22.2
Ensembl gene	ENSG00000206106
Ensembl biotype	protein_coding
Entrez	100288287

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000382830

RefSeq mRNA: 1 — MANE Select: NM_001164434 NM_001164434

CCDS: CCDS46641

Canonical transcript exons

ENST00000382830 — 1 exons

Exon	Start	End
ENSE00001493474	30590105	30590397

Expression profiles

Bgee: expression breadth broad, 11 present calls, max score 75.38.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.38	gold quality
colonic epithelium	UBERON:0000397	37.20	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
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
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
corpus callosum	UBERON:0002336	29.82	silver quality
monocyte	CL:0000576	29.57	gold quality
leukocyte	CL:0000738	29.40	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
blood	UBERON:0000178	25.65	gold quality
muscle of leg	UBERON:0001383	24.74	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting KRTAP22-2, 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-513B-5P	99.99	69.96	2150
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-4284	99.36	65.25	1293
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-6732-3P	98.17	67.52	802
HSA-MIR-7112-3P	97.67	68.77	948
HSA-MIR-125B-2-3P	96.69	68.38	1210

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 22-2 — Q3LI68 (reviewed: Q3LI68)

All UniProt accessions (1): Q3LI68

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 20 family.

RefSeq proteins (1): NP_001157906* (*=MANE)

Domains & families (InterPro)

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3LI68-F1	39.61	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 10 (showing top): chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, GOCC_SUPRAMOLECULAR_POLYMER, HMGA1_TARGET_GENES, MIR513B_5P, MIR4671_3P, MIR7112_3P, MIR6732_3P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): intermediate filament (GO:0005882)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

16 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP22-2	KRTAP6-2	Q3LI66	0
KRTAP22-2	KRTAP19-7	Q3SYF9	0
KRTAP22-2	LCE3B	Q5TA77	0
KRTAP22-2	KRTAP20-1	Q3LI63	0
KRTAP22-2	KRTAP20-3	Q3LI60	0
KRTAP22-2	KRTAP20-4	Q3LI62	0
KRTAP22-2	KRTAP21-3	Q3LHN1	0
KRTAP22-2	KRTAP19-6	Q3LI70	0

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: H2A0M6, O08632, O08633, O08640, P02448, P04459, P05685, P08826, P25692, P82170, P83358, Q02957, Q02958, Q28580, Q3LHN2, Q3LI54, Q3LI58, Q3LI59, Q3LI60, Q3LI61, Q3LI63, Q3LI64, Q3LI66, Q3LI67, Q3LI68, Q3LI70, Q3LI72, Q3LI73, Q3LI77, Q3MIV0, Q3SYF9, Q4W7G7, Q4W7G8, Q4W7G9, Q4W7H0, Q4W7H1, Q6F4C6, Q6R645, Q7Z4W3, Q8C1I6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	6
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	Pathogenic

SpliceAI

95 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30590270:T:TA	donor_gain	0.9500
21:30590205:A:AC	donor_gain	0.8100
21:30590327:G:C	donor_gain	0.8100
21:30590249:T:A	donor_gain	0.7300
21:30590346:C:CT	donor_gain	0.7200
21:30590347:T:TT	donor_gain	0.7200
21:30590182:AAC:A	donor_gain	0.6600
21:30590345:G:C	donor_gain	0.6400
21:30590351:A:T	donor_gain	0.6100
21:30590342:CAGG:C	donor_gain	0.6000
21:30590204:CA:C	donor_gain	0.5900
21:30590341:CCAGG:C	donor_gain	0.5900
21:30590224:A:C	donor_gain	0.5800
21:30590223:A:AC	donor_gain	0.5700
21:30590271:C:A	donor_gain	0.5700
21:30590306:GTTAC:G	donor_loss	0.5600
21:30590307:TTA:T	donor_loss	0.5600
21:30590308:TACC:T	donor_loss	0.5600
21:30590309:ACCAT:A	donor_loss	0.5600
21:30590310:C:T	donor_loss	0.5600
21:30590305:AGTT:A	donor_loss	0.5500
21:30590311:C:G	donor_loss	0.5500
21:30590314:A:AC	donor_gain	0.5400
21:30590343:AGGC:A	donor_gain	0.5200
21:30590118:TGACC:T	acceptor_loss	0.4800
21:30590121:CCTG:C	acceptor_loss	0.4800
21:30590245:T:TA	donor_gain	0.4800
21:30590123:T:A	acceptor_loss	0.4700
21:30590304:GAGTT:G	donor_loss	0.4700
21:30590299:AT:A	donor_gain	0.4600

AlphaMissense

287 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30590240:G:C	F45L	0.926
21:30590240:G:T	F45L	0.926
21:30590242:A:G	F45L	0.926
21:30590264:G:C	F37L	0.883
21:30590264:G:T	F37L	0.883
21:30590266:A:G	F37L	0.883
21:30590285:A:C	F30L	0.835
21:30590285:A:T	F30L	0.835
21:30590287:A:G	F30L	0.835
21:30590241:A:G	F45S	0.760
21:30590291:G:C	C28W	0.657
21:30590286:A:C	F30C	0.656
21:30590241:A:C	F45C	0.641
21:30590293:A:G	C28R	0.616
21:30590357:G:C	N6K	0.614
21:30590357:G:T	N6K	0.614
21:30590265:A:G	F37S	0.587
21:30590286:A:G	F30S	0.578
21:30590345:G:C	S10R	0.576
21:30590345:G:T	S10R	0.576
21:30590347:T:G	S10R	0.576
21:30590358:T:A	N6I	0.569

dbSNP variants (sampled 300 via entrez): RS1000996787 (21:30591383 T>C), RS1001292211 (21:30590687 G>A), RS1002849561 (21:30591770 T>C), RS1002962558 (21:30592062 CTAAT>C), RS1004299521 (21:30592303 G>A), RS1004551143 (21:30590948 T>C), RS1004640084 (21:30589958 A>G), RS1005032494 (21:30590266 A>G), RS1006296614 (21:30591664 AT>A), RS1006720106 (21:30591394 T>C), RS1008034151 (21:30590738 T>G), RS1008566601 (21:30591120 A>G), RS1009109561 (21:30589677 T>G), RS1011898286 (21:30590713 T>A), RS1012023853 (21:30591039 T>C)

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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

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