KRT82

Summary

KRT82 (keratin 82, HGNC:6459) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cuticular Hb2 (Q9NSB4).

The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin.

Source: NCBI Gene 3888 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 107 total
• MANE Select transcript: NM_033033

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6459
Approved symbol	KRT82
Name	keratin 82
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	Hb-2
Ensembl gene	ENSG00000161850
Ensembl biotype	protein_coding
OMIM	601078
Entrez	3888

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000257974

RefSeq mRNA: 1 — MANE Select: NM_033033 NM_033033

CCDS: CCDS8826

Canonical transcript exons

ENST00000257974 — 9 exons

Exon	Start	End
ENSE00000919895	52395759	52395790
ENSE00000919896	52396012	52396232
ENSE00000919897	52396883	52397008
ENSE00000919898	52399985	52400149
ENSE00000919899	52400527	52400622
ENSE00000919900	52401289	52401349
ENSE00000919901	52403701	52403909
ENSE00001153657	52393931	52395195
ENSE00001153664	52405867	52406335

Expression profiles

Bgee: expression breadth broad, 19 present calls, max score 89.69.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.69	gold quality
myocardium	UBERON:0002349	76.88	gold quality
vena cava	UBERON:0004087	72.95	gold quality
cardia of stomach	UBERON:0001162	70.32	gold quality
subthalamic nucleus	UBERON:0001906	68.59	gold quality
lateral globus pallidus	UBERON:0002476	68.55	gold quality
dorsal plus ventral thalamus	UBERON:0001897	68.29	gold quality
trachea	UBERON:0003126	68.09	gold quality
ventral tegmental area	UBERON:0002691	68.02	gold quality
substantia nigra pars reticulata	UBERON:0001966	67.88	gold quality
inferior vagus X ganglion	UBERON:0005363	67.73	gold quality
saphenous vein	UBERON:0007318	67.72	gold quality
superior surface of tongue	UBERON:0007371	67.62	gold quality
nipple	UBERON:0002030	67.60	gold quality
pericardium	UBERON:0002407	67.44	gold quality
tongue	UBERON:0001723	67.30	gold quality
cerebellar vermis	UBERON:0004720	67.27	gold quality
medulla oblongata	UBERON:0001896	67.25	gold quality
pharyngeal mucosa	UBERON:0000355	67.22	gold quality
body of tongue	UBERON:0011876	67.19	gold quality
superior vestibular nucleus	UBERON:0007227	67.14	gold quality
buccal mucosa cell	CL:0002336	67.08	gold quality
pons	UBERON:0000988	67.03	gold quality
substantia nigra pars compacta	UBERON:0001965	66.96	gold quality
pylorus	UBERON:0001166	66.93	gold quality
dorsal root ganglion	UBERON:0000044	66.84	gold quality
lateral nuclear group of thalamus	UBERON:0002736	66.82	gold quality
synovial joint	UBERON:0002217	66.78	gold quality
mucosa of paranasal sinus	UBERON:0005030	66.73	gold quality
layer of synovial tissue	UBERON:0007616	66.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting KRT82, 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-4481	100.00	66.42	1669
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-6743-5P	99.48	63.60	721
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-4758-3P	99.12	63.96	869
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-450A-2-3P	97.91	67.56	1459
HSA-MIR-3670	97.88	64.39	763
HSA-MIR-4309	97.84	65.45	588
HSA-MIR-3127-5P	97.52	65.24	786
HSA-MIR-215-3P	97.02	68.01	1209

Literature-anchored findings (GeneRIF, showing 1)

• Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82. (PMID:35145093)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krt82	ENSMUSG00000049548
rattus_norvegicus	Krt82	ENSRNOG00000033403

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)

Protein

Protein identifiers

Keratin, type II cuticular Hb2 — Q9NSB4 (reviewed: Q9NSB4)

Alternative names: Keratin-82, Type II hair keratin Hb2, Type-II keratin Kb22

All UniProt accessions (1): Q9NSB4

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Heterotetramer of two type I and two type II keratins.

Miscellaneous. There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (1): NP_149022* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003054	Keratin_II	Family
IPR018039	IF_conserved	Conserved_site
IPR032444	Keratin_2_head	Domain
IPR039008	IF_rod_dom	Domain

Pfam: PF00038, PF16208

UniProt features (12 total): region of interest 7, sequence variant 3, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NSB4-F1	73.63	0.51

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6805567	Keratinization
R-HSA-6809371	Formation of the cornified envelope
R-HSA-1266738	Developmental Biology

MSigDB gene sets: 41 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, MARTINEZ_RB1_TARGETS_DN, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_KERATINIZATION, GOBP_SKIN_DEVELOPMENT, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, FIGUEROA_AML_METHYLATION_CLUSTER_5_DN, GOBP_SUPRAMOLECULAR_FIBER_ORGANIZATION, GOCC_SUPRAMOLECULAR_COMPLEX

GO Biological Process (2): keratinization (GO:0031424), intermediate filament organization (GO:0045109)

GO Molecular Function (2): structural constituent of skin epidermis (GO:0030280), 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-2 pathways:

Category	Pathways
Developmental Biology	1
Keratinization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
keratinocyte differentiation	1
multicellular organismal process	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
structural molecule activity	1
binding	1
cytoplasm	1
cellular anatomical structure	1
intermediate filament	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

791 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRT82	KRTAP3-1	Q9BYR8	478
KRT82	KRTCAP3	Q53RY4	457
KRT82	KRTAP11-1	Q8IUC1	438
KRT82	KRT18	P05783	432
KRT82	KRTAP7-1	Q8IUC3	427
KRT82	OR9Q2	Q8NGE9	397
KRT82	CUTC	Q9NTM9	394
KRT82	HOXC13	P31276	384
KRT82	MSX2	P35548	373
KRT82	TCHH	Q07283	371
KRT82	KRTAP9-1	A8MXZ3	366
KRT82	KRTAP26-1	Q6PEX3	359
KRT82	KRTAP6-2	Q3LI66	354
KRT82	KRTAP8-1	Q8IUC2	331
KRT82	TMEM53	Q6P2H8	328

IntAct

54 interactions, top by confidence:

A	B	Type	Score
VAC14	KRT82	psi-mi:“MI:0915”(physical association)	0.560
KRT34	KRT82	psi-mi:“MI:0915”(physical association)	0.560
KRT27	KRT82	psi-mi:“MI:0915”(physical association)	0.560
KRT35	KRT82	psi-mi:“MI:0915”(physical association)	0.560
KRT15	KRT82	psi-mi:“MI:0915”(physical association)	0.560
COL8A1	KRT82	psi-mi:“MI:0915”(physical association)	0.560
HOXA1	KRT82	psi-mi:“MI:0915”(physical association)	0.560
KRT33B	KRT82	psi-mi:“MI:0915”(physical association)	0.560
PLSCR4	KRT82	psi-mi:“MI:0915”(physical association)	0.560
HGS	KRT82	psi-mi:“MI:0915”(physical association)	0.560
KRT31	KRT82	psi-mi:“MI:0915”(physical association)	0.560
KRT40	KRT82	psi-mi:“MI:0915”(physical association)	0.560
WTAP	DDX39A	psi-mi:“MI:0914”(association)	0.350
GABARAPL2	WDR62	psi-mi:“MI:0914”(association)	0.350
GABARAPL2		psi-mi:“MI:0914”(association)	0.350
GABARAPL1		psi-mi:“MI:0914”(association)	0.350
RAB24	KRT36	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
KRT82	RNF40	psi-mi:“MI:0914”(association)	0.350
FHIP1A	ILVBL	psi-mi:“MI:2364”(proximity)	0.270
FHIP2B	VWA8	psi-mi:“MI:2364”(proximity)	0.270
TWF2	KRT82	psi-mi:“MI:0915”(physical association)	0.000
YWHAG	KRT82	psi-mi:“MI:0915”(physical association)	0.000
LYAR	KRT82	psi-mi:“MI:0915”(physical association)	0.000
ELF3	KRT82	psi-mi:“MI:0915”(physical association)	0.000
DNPEP	KRT82	psi-mi:“MI:0915”(physical association)	0.000
PLEKHB2	KRT82	psi-mi:“MI:0915”(physical association)	0.000
DLG3	KRT82	psi-mi:“MI:0915”(physical association)	0.000
ATG12	KRT82	psi-mi:“MI:0915”(physical association)	0.000
KRT82	VAC14	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (38): KRT82 (Affinity Capture-MS), KRT16 (Co-fractionation), KRT82 (Affinity Capture-MS), KRT82 (Affinity Capture-MS), KRT82 (Affinity Capture-MS), KRT82 (Affinity Capture-MS), KRT82 (Affinity Capture-MS), KRT82 (Affinity Capture-MS), KRT82 (Affinity Capture-MS), KRT82 (Affinity Capture-MS), KRT82 (Affinity Capture-MS), KRT82 (Two-hybrid), KRT82 (Two-hybrid), KRT82 (Two-hybrid), KRT82 (Two-hybrid)

ESM2 similar proteins: A0JND2, A3KN27, A6BLY7, A6H712, A6QNX5, A6QQJ3, A7YWK3, D3ZER2, E1AB55, O76014, O76015, P08552, P15331, P21807, P35617, P41219, P46660, P48670, Q0VBK2, Q13515, Q148H5, Q148H6, Q148H8, Q14CN4, Q28177, Q3SY84, Q3TRJ4, Q6A162, Q6IFW3, Q6IFW8, Q6IFX0, Q6IFX4, Q6IFZ9, Q6IG04, Q6IME9, Q6IMF1, Q6KB66, Q6NVD9, Q6NXH9, Q7RTS7

Diamond homologs: A0A8C0N8E3, A0JND2, A3KN27, A4FUZ0, A5A6M6, A5A6M8, A5A6N0, A6QNX5, A6QQJ3, A7YWK3, E1AB55, O43790, O93532, O95678, P02538, P04104, P04259, P04264, P04265, P04266, P05786, P05787, P07744, P08670, P08729, P08776, P11679, P12035, P13647, P15241, P15331, P16878, P18520, P19013, P21807, P25691, P35908, P41219, P48616, P48668

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 33 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
Formation of the cornified envelope	8	29.3×	2e-08
Keratinization	8	18.6×	3e-07

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	8	91.7×	2e-12
intermediate filament organization	8	64.2×	3e-11
epithelial cell differentiation	8	46.8×	2e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	103
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1160 predictions. Top by Δscore:

Variant	Effect	Δscore
12:52395757:A:AC	donor_gain	1.0000
12:52395758:C:CC	donor_gain	1.0000
12:52396007:CTCA:C	donor_loss	1.0000
12:52396228:CAGCG:C	acceptor_gain	1.0000
12:52396229:AGCG:A	acceptor_gain	1.0000
12:52396230:GCG:G	acceptor_gain	1.0000
12:52396231:CG:C	acceptor_gain	1.0000
12:52396231:CGC:C	acceptor_gain	1.0000
12:52396232:GC:G	acceptor_loss	1.0000
12:52396233:C:CA	acceptor_loss	1.0000
12:52396233:C:CC	acceptor_gain	1.0000
12:52396234:T:C	acceptor_loss	1.0000
12:52396877:CCTCA:C	donor_loss	1.0000
12:52396878:CTCAC:C	donor_loss	1.0000
12:52396879:TCA:T	donor_loss	1.0000
12:52396880:CACCT:C	donor_loss	1.0000
12:52396881:A:T	donor_loss	1.0000
12:52397005:CATA:C	acceptor_gain	1.0000
12:52397006:ATA:A	acceptor_gain	1.0000
12:52397007:TA:T	acceptor_gain	1.0000
12:52397009:C:CC	acceptor_gain	1.0000
12:52399979:CCT:C	donor_loss	1.0000
12:52399980:CTC:C	donor_loss	1.0000
12:52399983:A:AG	donor_loss	1.0000
12:52399983:AC:A	donor_gain	1.0000
12:52399984:CC:C	donor_gain	1.0000
12:52399984:CCCGG:C	donor_gain	1.0000
12:52400525:ACCT:A	donor_gain	1.0000
12:52400526:CCTC:C	donor_gain	1.0000
12:52400528:T:TA	donor_gain	1.0000

AlphaMissense

3360 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:52396033:A:G	L423P	0.996
12:52405885:G:C	F131L	0.996
12:52405885:G:T	F131L	0.996
12:52405887:A:G	F131L	0.996
12:52405886:A:G	F131S	0.995
12:52396071:C:A	K410N	0.994
12:52396071:C:G	K410N	0.994
12:52405886:A:C	F131C	0.994
12:52396043:A:C	Y420D	0.993
12:52396043:A:G	Y420H	0.993
12:52396063:A:G	L413P	0.993
12:52396051:A:C	I417S	0.992
12:52396049:C:G	A418P	0.991
12:52405894:G:C	N128K	0.991
12:52405894:G:T	N128K	0.991
12:52396053:C:A	E416D	0.990
12:52396053:C:G	E416D	0.990
12:52396073:T:C	K410E	0.989
12:52403893:T:G	Q143P	0.989
12:52405898:A:G	L127P	0.989
12:52396051:A:T	I417N	0.988
12:52403878:A:G	L148P	0.988
12:52403899:A:G	L141P	0.988
12:52405895:T:A	N128I	0.987
12:52403895:C:A	E142D	0.986
12:52403895:C:G	E142D	0.986
12:52396043:A:T	Y420N	0.985
12:52396051:A:G	I417T	0.985
12:52396054:T:C	E416G	0.984
12:52405889:C:G	R130P	0.983

dbSNP variants (sampled 300 via entrez): RS1000055205 (12:52397095 G>A,T), RS1000446589 (12:52394704 G>A,C), RS1000455529 (12:52405829 G>A), RS1000648058 (12:52398444 C>T), RS1000652643 (12:52400454 C>T), RS1000723533 (12:52393664 A>C), RS1000762445 (12:52404687 G>A), RS1000795170 (12:52404450 T>G), RS1000999062 (12:52398695 G>A), RS1001077938 (12:52404616 G>A), RS1001202332 (12:52394589 G>A,T), RS1001724892 (12:52394792 A>T), RS1001763993 (12:52399729 G>A), RS1002132848 (12:52405777 A>C), RS1002395840 (12:52404110 G>T)

Disease associations

OMIM: gene MIM:601078 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005577_2	Change in glucose in response to thiazide diuretic treatment in hypertension	1.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004468	glucose measurement

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
methylparaben	increases expression	1
butylparaben	increases expression	1
Benzo(a)pyrene	decreases expression	1
Methotrexate	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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