KRT71
geneOn this page
Also known as KRT6IRSKRT6IRS1K6IRS1
Summary
KRT71 (keratin 71, HGNC:28927) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cytoskeletal 71 (Q3SY84). Plays a central role in hair formation.
Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.
Source: NCBI Gene 112802 — RefSeq curated summary.
At a glance
- Gene–disease (curated): hypotrichosis 13 (Moderate, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 206 total — 2 pathogenic
- Phenotypes (HPO): 19
- MANE Select transcript:
NM_033448
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28927 |
| Approved symbol | KRT71 |
| Name | keratin 71 |
| Location | 12q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KRT6IRS, KRT6IRS1, K6IRS1 |
| Ensembl gene | ENSG00000139648 |
| Ensembl biotype | protein_coding |
| OMIM | 608245 |
| Entrez | 112802 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000267119
RefSeq mRNA: 1 — MANE Select: NM_033448
NM_033448
CCDS: CCDS8831
Canonical transcript exons
ENST00000267119 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000939488 | 52546286 | 52546506 |
| ENSE00001060904 | 52552637 | 52553145 |
| ENSE00001060923 | 52548701 | 52548796 |
| ENSE00001060929 | 52545565 | 52545599 |
| ENSE00001116740 | 52543909 | 52544743 |
| ENSE00001629562 | 52548152 | 52548316 |
| ENSE00001643620 | 52549293 | 52549353 |
| ENSE00001672258 | 52547857 | 52547982 |
| ENSE00001704377 | 52550029 | 52550243 |
Expression profiles
Bgee: expression breadth broad, 48 present calls, max score 97.19.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0659 / max 100.3651, expressed in 4 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131095 | 0.0659 | 4 |
Top tissues by expression
229 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 97.19 | gold quality |
| skin of hip | UBERON:0001554 | 77.53 | gold quality |
| nipple | UBERON:0002030 | 67.29 | gold quality |
| ileal mucosa | UBERON:0000331 | 65.17 | silver quality |
| pancreatic ductal cell | CL:0002079 | 61.24 | silver quality |
| tibialis anterior | UBERON:0001385 | 59.87 | silver quality |
| zone of skin | UBERON:0000014 | 58.24 | gold quality |
| skin of leg | UBERON:0001511 | 57.85 | gold quality |
| upper leg skin | UBERON:0004262 | 56.97 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 54.80 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 54.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 54.23 | gold quality |
| kidney epithelium | UBERON:0004819 | 53.93 | gold quality |
| skin of abdomen | UBERON:0001416 | 53.66 | gold quality |
| deltoid | UBERON:0001476 | 50.77 | gold quality |
| myocardium | UBERON:0002349 | 50.25 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 47.03 | gold quality |
| quadriceps femoris | UBERON:0001377 | 46.94 | gold quality |
| amniotic fluid | UBERON:0000173 | 45.50 | gold quality |
| vastus lateralis | UBERON:0001379 | 45.40 | gold quality |
| right lung | UBERON:0002167 | 44.40 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 43.55 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
| corpus epididymis | UBERON:0004359 | 42.95 | gold quality |
| secondary oocyte | CL:0000655 | 42.57 | gold quality |
| sural nerve | UBERON:0015488 | 42.19 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 41.79 | gold quality |
| muscle tissue | UBERON:0002385 | 41.77 | gold quality |
| superficial temporal artery | UBERON:0001614 | 41.33 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 41.10 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.63 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting KRT71, 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-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-302A-5P | 99.39 | 68.21 | 1913 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6893-5P | 99.31 | 66.25 | 2119 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-6728-3P | 98.63 | 67.63 | 1534 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-6776-5P | 98.54 | 67.43 | 1304 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-3665 | 97.73 | 65.08 | 975 |
Literature-anchored findings (GeneRIF, showing 2)
- A novel epithelial keratin, hK6irs1, is expressed differentially in all layers of the inner root sheath, including specialized huxley cells (Flugelzellen) of the human hair follicle.(HK6IRS1) (PMID:11982755)
- Demonstration of the heterozygous mutation c.422T>G (p.Phe141Cys) within the helix initiation motif of the inner root sheath-specific keratin K71 (KRT71) gene in affected family members with autosomal dominant woolly hair/hypotrichosis. (PMID:22592156)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Krt71 | ENSMUSG00000051879 |
| rattus_norvegicus | Krt71 | ENSRNOG00000049495 |
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), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), 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 cytoskeletal 71 — Q3SY84 (reviewed: Q3SY84)
Alternative names: Cytokeratin-71, Keratin-71, Type II inner root sheath-specific keratin-K6irs1, Type-II keratin Kb34
All UniProt accessions (1): Q3SY84
UniProt curated annotations — full annotation on UniProt →
Function. Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle.
Subunit / interactions. Heterodimer of a type I and a type II keratin. Associates with KRT16 and/or KRT17.
Subcellular location. Cytoplasm. Cytoskeleton.
Tissue specificity. Highly expressed in hair follicles from scalp. Specifically expressed in the inner root sheath (IRS) of the hair follicle. Present in the all 3 IRS layers: the cuticle, the Henle and the Huxley layers. Also detected in the pseudopods of specialized Huxley cells, termed Fluegelzellen, along the area of differentiated Henle cells (at protein level).
Disease relevance. Hypotrichosis 13 (HYPT13) [MIM:615896] A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT13 is an autosomal dominant form characterized by sparse woolly hair. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).
Similarity. Belongs to the intermediate filament family.
RefSeq proteins (1): NP_258259* (*=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 (20 total): region of interest 8, sequence variant 6, compositionally biased region 2, chain 1, domain 1, site 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q3SY84-F1 | 72.66 | 0.52 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 381 (stutter)
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: 89 (showing top):
GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_EPIDERMIS_MORPHOGENESIS, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, MARTINEZ_RB1_TARGETS_DN, GOBP_MOLTING_CYCLE, GOZGIT_ESR1_TARGETS_UP, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_KERATINIZATION, GOBP_SKIN_DEVELOPMENT, GOBP_TISSUE_MORPHOGENESIS, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT
GO Biological Process (3): hair follicle morphogenesis (GO:0031069), 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 (6): cytosol (GO:0005829), keratin filament (GO:0045095), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), 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 |
|---|---|
| cellular anatomical structure | 2 |
| hair follicle development | 1 |
| anatomical structure morphogenesis | 1 |
| hair cycle process | 1 |
| epidermis morphogenesis | 1 |
| keratinocyte differentiation | 1 |
| multicellular organismal process | 1 |
| intermediate filament cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| structural molecule activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intermediate filament | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intermediate filament cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
Protein interactions and networks
STRING
560 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KRT71 | RSPO2 | Q6UXX9 | 910 |
| KRT71 | FGF5 | P12034 | 882 |
| KRT71 | PDIK1L | Q8N165 | 547 |
| KRT71 | GORAB | Q5T7V8 | 521 |
| KRT71 | MAP3K21 | Q5TCX8 | 508 |
| KRT71 | HOXC13 | P31276 | 503 |
| KRT71 | PTPRK | Q15262 | 480 |
| KRT71 | FOXI3 | A8MTJ6 | 457 |
| KRT71 | RSPO3 | Q9BXY4 | 448 |
| KRT71 | GUCY2F | P51841 | 445 |
| KRT71 | KRTAP9-1 | A8MXZ3 | 421 |
| KRT71 | FOXN1 | O15353 | 418 |
| KRT71 | TCHH | Q07283 | 416 |
| KRT71 | KRTAP4-16 | G5E9R7 | 413 |
| KRT71 | MYLK2 | Q9H1R3 | 411 |
IntAct
87 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KRT71 | KRT38 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT15 | KRT71 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT31 | KRT71 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT40 | KRT71 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT38 | KRT71 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT71 | KRT40 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT71 | KRT13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT13 | KRT71 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT16 | KRT71 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT33B | KRT71 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT37 | KRT71 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT71 | KRT26 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT18 | KRT71 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT19 | KRT71 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT71 | USHBP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT71 | KRT27 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT71 | KRT35 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT71 | WASHC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT71 | KRT28 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (53): KRT71 (Two-hybrid), KRT71 (Two-hybrid), KRT71 (Two-hybrid), KRT71 (Two-hybrid), KRT40 (Two-hybrid), KRT71 (Affinity Capture-MS), KRT71 (Affinity Capture-MS), KRT71 (Affinity Capture-MS), KRT71 (Two-hybrid), KRT71 (Two-hybrid), KRT71 (Two-hybrid), KRT71 (Two-hybrid), KRT71 (Two-hybrid), KRT71 (Two-hybrid), KRT71 (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 37 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 | 17 | 49.8× | 3e-24 |
| Keratinization | 17 | 31.6× | 6e-21 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| morphogenesis of an epithelium | 16 | 166.8× | 4e-31 |
| intermediate filament organization | 16 | 116.7× | 1e-28 |
| epithelial cell differentiation | 15 | 79.8× | 5e-24 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
206 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 129 |
| Likely benign | 27 |
| Benign | 43 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 140460 | NM_033448.3(KRT71):c.422T>G (p.Phe141Cys) | Pathogenic |
| 152062 | GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1 | Pathogenic |
SpliceAI
1358 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:52546308:G:C | donor_gain | 1.0000 |
| 12:52546502:GAAGC:G | acceptor_gain | 1.0000 |
| 12:52546504:AGC:A | acceptor_gain | 1.0000 |
| 12:52546505:GC:G | acceptor_gain | 1.0000 |
| 12:52546506:CC:C | acceptor_gain | 1.0000 |
| 12:52546506:CCTA:C | acceptor_loss | 1.0000 |
| 12:52546507:C:CA | acceptor_loss | 1.0000 |
| 12:52546507:C:CC | acceptor_gain | 1.0000 |
| 12:52547851:TCTCA:T | donor_loss | 1.0000 |
| 12:52547852:CTCAC:C | donor_loss | 1.0000 |
| 12:52547853:TCA:T | donor_loss | 1.0000 |
| 12:52547854:CACC:C | donor_loss | 1.0000 |
| 12:52547855:A:T | donor_loss | 1.0000 |
| 12:52547856:C:A | donor_loss | 1.0000 |
| 12:52547856:CCTG:C | donor_gain | 1.0000 |
| 12:52547983:C:CC | acceptor_gain | 1.0000 |
| 12:52547993:C:T | acceptor_gain | 1.0000 |
| 12:52548147:CTCAC:C | donor_loss | 1.0000 |
| 12:52548150:A:AG | donor_loss | 1.0000 |
| 12:52548151:C:T | donor_loss | 1.0000 |
| 12:52548185:A:AC | donor_gain | 1.0000 |
| 12:52548186:C:CC | donor_gain | 1.0000 |
| 12:52548186:CT:C | donor_gain | 1.0000 |
| 12:52548263:C:CT | acceptor_gain | 1.0000 |
| 12:52548263:C:T | acceptor_gain | 1.0000 |
| 12:52548312:ATCTC:A | acceptor_gain | 1.0000 |
| 12:52548314:CTC:C | acceptor_gain | 1.0000 |
| 12:52548315:TC:T | acceptor_gain | 1.0000 |
| 12:52548316:CC:C | acceptor_gain | 1.0000 |
| 12:52548317:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
3446 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:52549296:C:A | K238N | 0.999 |
| 12:52549296:C:G | K238N | 0.999 |
| 12:52546476:C:G | A379P | 0.998 |
| 12:52549308:A:C | F234L | 0.998 |
| 12:52549308:A:T | F234L | 0.998 |
| 12:52549310:A:G | F234L | 0.998 |
| 12:52547909:A:G | L351P | 0.997 |
| 12:52552655:G:C | F141L | 0.997 |
| 12:52552655:G:T | F141L | 0.997 |
| 12:52552657:A:G | F141L | 0.997 |
| 12:52546488:C:G | A375P | 0.996 |
| 12:52549322:C:G | A230P | 0.996 |
| 12:52549330:C:G | R227P | 0.996 |
| 12:52552656:A:G | F141S | 0.995 |
| 12:52548175:C:G | A319P | 0.994 |
| 12:52552656:A:C | F141C | 0.994 |
| 12:52547939:A:G | L341P | 0.993 |
| 12:52549300:A:G | L237P | 0.993 |
| 12:52552665:T:A | N138I | 0.993 |
| 12:52547903:C:G | R353P | 0.992 |
| 12:52549298:T:C | K238E | 0.992 |
| 12:52552664:G:C | N138K | 0.992 |
| 12:52552664:G:T | N138K | 0.992 |
| 12:52552668:A:G | L137P | 0.992 |
| 12:52547900:A:G | L354P | 0.991 |
| 12:52550122:A:G | L188P | 0.991 |
| 12:52546307:A:G | L435P | 0.990 |
| 12:52546496:A:G | L372P | 0.990 |
| 12:52549297:T:G | K238T | 0.990 |
| 12:52549309:A:G | F234S | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000114873 (12:52547781 T>C,G), RS1000124215 (12:52549492 G>A,C,T), RS1000333428 (12:52553077 T>A,C), RS1000520681 (12:52552198 A>G), RS1001389864 (12:52553381 G>A), RS1001588374 (12:52545318 G>A), RS1002280368 (12:52554561 C>T), RS1002367025 (12:52544224 G>A,T), RS1003044768 (12:52546594 A>G), RS1003109793 (12:52551896 C>A,G), RS1003142489 (12:52551667 G>A,T), RS1003388757 (12:52545012 T>C), RS1003402323 (12:52550889 T>G), RS1003435443 (12:52550583 C>T), RS1003469538 (12:52552107 G>A)
Disease associations
OMIM: gene MIM:608245 | disease phenotypes: MIM:615896
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| hypotrichosis 13 | Moderate | Autosomal dominant |
| isolated familial wooly hair disorder | Supportive | Autosomal dominant |
Mondo (2): hypotrichosis 13 (MONDO:0014390), isolated familial wooly hair disorder (MONDO:0008686)
Orphanet (1): Woolly hair (Orphanet:170)
HPO phenotypes
19 total (19 of 19 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000479 | Abnormal retinal morphology |
| HP:0000486 | Strabismus |
| HP:0000518 | Cataract |
| HP:0000615 | Abnormal pupil morphology |
| HP:0000653 | Sparse eyelashes |
| HP:0000971 | Abnormal sweat gland morphology |
| HP:0002213 | Fine hair |
| HP:0002217 | Slow-growing hair |
| HP:0002224 | Woolly hair |
| HP:0002231 | Sparse body hair |
| HP:0002299 | Brittle hair |
| HP:0003577 | Congenital onset |
| HP:0005338 | Sparse lateral eyebrow |
| HP:0005599 | Hypopigmentation of hair |
| HP:0006482 | Abnormal dental morphology |
| HP:0008070 | Sparse hair |
| HP:0010719 | Abnormality of hair texture |
| HP:0011121 | Abnormal skin morphology |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536745 | Woolly hair, congenital (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
10 total (human), top 10 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aflatoxin B2 | increases methylation | 1 |
| K 7174 | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Methotrexate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: hypotrichosis 13, isolated familial wooly hair disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hypotrichosis 13, isolated familial wooly hair disorder