KRTAP19-2

Summary

KRTAP19-2 (keratin associated protein 19-2, HGNC:18937) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 19-2 (Q3LHN2). 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 337969 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 9 total
• MANE Select transcript: NM_181608

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18937
Approved symbol	KRTAP19-2
Name	keratin associated protein 19-2
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	KAP19.2
Ensembl gene	ENSG00000186965
Ensembl biotype	protein_coding
Entrez	337969

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334055

RefSeq mRNA: 1 — MANE Select: NM_181608 NM_181608

CCDS: CCDS13595

Canonical transcript exons

ENST00000334055 — 1 exons

Exon	Start	End
ENSE00001338566	30487043	30487436

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 44.79.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	44.79	silver 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
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
urinary bladder	UBERON:0001255	27.60	silver 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
blood	UBERON:0000178	26.04	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
monocyte	CL:0000576	25.59	silver quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.10	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
frontal cortex	UBERON:0001870	23.85	gold quality
kidney	UBERON:0002113	23.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.82

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 19-2 — Q3LHN2 (reviewed: Q3LHN2)

All UniProt accessions (1): Q3LHN2

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 19 family.

RefSeq proteins (1): NP_853639* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021743	KRTAP_type8/19/20/21/22	Family

Pfam: PF11759

UniProt features (3 total): sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3LHN2-F1	43.39	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: 9 (showing top): chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, NOTCH3_TARGET_GENES, CTTTGA_LEF1_Q2, YCATTAA_UNKNOWN

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
KRTAP19-2	KRTAP13-2	Q52LG2	590
KRTAP19-2	KRTAP19-3	Q7Z4W3	583
KRTAP19-2	KRTAP13-1	Q8IUC0	578
KRTAP19-2	KRTAP20-2	Q3LI61	507
KRTAP19-2	C21orf58	P58505	477
KRTAP19-2	KRTAP9-2	Q9BYQ4	476
KRTAP19-2	ZNF708	P17019	447
KRTAP19-2	ZNF492	Q9P255	447
KRTAP19-2	KRT2	P35908	395
KRTAP19-2	SCAF4	O95104	325
KRTAP19-2	ZNF154	Q13106	322
KRTAP19-2	KRT75	O95678	260
KRTAP19-2	SPRR1A	P35321	259
KRTAP19-2	KRT10	P13645	253
KRTAP19-2	SLC31A2	O15432	248

IntAct

151 interactions, top by confidence:

A	B	Type	Score
MKRN3	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
TEKT4	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
RHBG	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
TENT5D	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
CREB5	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
PCSK5	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP4-12	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
FOXH1	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
FBLN1	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
SPAG8	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
CHRD	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
TFAP2D	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-2	ATN1	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
ZIC1	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
MEIS2	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-2	KRTAP3-3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-2	OLIG3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (47): KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid), KRTAP19-2 (Two-hybrid)

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

Diamond homologs: Q3LHN2, Q3LI72, O08632, Q3LI60, Q3LI70, Q3LI73, Q3SYF9, Q7Z4W3, Q8IUB9, Q925H2, Q925H7, Q925I0, Q99NG9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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	6	11.5×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

138 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30487407:A:AC	donor_gain	0.8900
21:30487408:C:CC	donor_gain	0.8900
21:30487274:T:C	donor_gain	0.8500
21:30487267:A:AT	donor_gain	0.8200
21:30487280:T:TA	donor_gain	0.7800
21:30487266:C:CT	donor_gain	0.7400
21:30487378:G:T	donor_gain	0.7400
21:30487382:T:TA	donor_gain	0.7400
21:30487214:T:C	donor_gain	0.7300
21:30487408:CG:C	donor_gain	0.7300
21:30487217:T:TA	donor_gain	0.7200
21:30487372:AGCC:A	donor_gain	0.7000
21:30487391:G:C	donor_gain	0.7000
21:30487300:AG:A	donor_gain	0.6900
21:30487350:C:CT	donor_gain	0.6900
21:30487301:G:C	donor_gain	0.6700
21:30487348:TGCC:T	donor_gain	0.6700
21:30487300:AGC:A	donor_gain	0.6400
21:30487325:T:TA	donor_gain	0.6400
21:30487195:AGAAG:A	donor_gain	0.6200
21:30487349:G:A	donor_gain	0.5900
21:30487173:A:AC	donor_gain	0.5800
21:30487408:CGGT:C	donor_gain	0.5600
21:30487401:TAGC:T	donor_loss	0.5500
21:30487402:AGCT:A	donor_loss	0.5500
21:30487403:GCT:G	donor_loss	0.5500
21:30487404:C:CG	donor_loss	0.5500
21:30487405:T:TA	donor_loss	0.5500
21:30487406:C:CC	donor_loss	0.5500
21:30487407:A:AG	donor_loss	0.5500

AlphaMissense

325 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30487313:G:C	F12L	0.887
21:30487313:G:T	F12L	0.887
21:30487315:A:G	F12L	0.887
21:30487196:G:C	F51L	0.834
21:30487196:G:T	F51L	0.834
21:30487198:A:G	F51L	0.834
21:30487205:G:C	F48L	0.769
21:30487205:G:T	F48L	0.769
21:30487207:A:G	F48L	0.769
21:30487316:G:C	S11R	0.581
21:30487316:G:T	S11R	0.581
21:30487318:T:G	S11R	0.581

dbSNP variants (sampled 300 via entrez): RS1000108524 (21:30488283 G>T), RS1002414320 (21:30489218 A>T), RS1002904274 (21:30486706 G>A), RS1003856882 (21:30487618 T>C), RS1003909541 (21:30487940 C>A,T), RS1006202742 (21:30488925 A>C), RS1008554 (21:30488255 G>A,C,T), RS1008746558 (21:30488990 G>A), RS1009047981 (21:30487112 C>T), RS1010043400 (21:30488338 C>A,G), RS1013459450 (21:30488524 G>A), RS1013898914 (21:30487981 T>A,C), RS1015829439 (21:30489344 A>G), RS1016387031 (21:30486580 G>A), RS1018070862 (21:30487948 C>A,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

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, decreases methylation	1
bisphenol A	affects cotreatment, decreases methylation	1
butyraldehyde	increases expression	1
CGP 52608	affects binding, increases reaction	1
Fulvestrant	decreases methylation, affects cotreatment	1
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

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