SHEP2
MCID: SKN067
MIFTS: 31

Skin/hair/eye Pigmentation, Variation in, 2 (SHEP2)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 2

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 2:

Name: Skin/hair/eye Pigmentation, Variation in, 2 56 29 6 71
Uv-Induced Skin Damage, Susceptibility to 29 6
Pigmentation, Skin/hair/eye, Variation in, Type 2 39
Uv-Induced Skin Damage 56
Blond Hair/fair Skin 56
Red Hair Color; Rhc 56
Hair Color 2; Hcl2 56
Red Hair Color 56
Hair Color 2 56
Shep-2 17
Shep2 56
Hcl2 56
Rhc 56
Rha 56

Characteristics:

OMIM:

56
Inheritance:
? autosomal recessive
red hair pigment possibly dominant to its absence and hypostatic to brown or black


HPO:

31
skin/hair/eye pigmentation, variation in, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 266300
OMIM Phenotypic Series 56 PS227220
MedGen 41 C1849452
SNOMED-CT via HPO 68 258211005 297997007
UMLS 71 C1849452

Summaries for Skin/hair/eye Pigmentation, Variation in, 2

OMIM : 56 Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. Valverde et al. (1995) noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see 176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; 600201), which antagonizes this action. (266300)

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 2, also known as uv-induced skin damage, susceptibility to, is related to pulmonary embolism and xeroderma pigmentosum, complementation group a. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 2 is MC1R (Melanocortin 1 Receptor). Affiliated tissues include skin, eye and bone, and related phenotype is red hair.

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 2

Diseases in the Skin/hair/eye Pigmentation, Variation in, 2 family:

Skin/hair/eye Pigmentation, Variation in, 6 Skin/hair/eye Pigmentation, Variation in, 1
Skin/hair/eye Pigmentation, Variation in, 5 Skin/hair/eye Pigmentation, Variation in, 3
Skin/hair/eye Pigmentation, Variation in, 7 Skin/hair/eye Pigmentation, Variation in, 8
Skin/hair/eye Pigmentation, Variation in, 9 Skin/hair/eye Pigmentation, Variation in, 10
Skin/hair/eye Pigmentation, Variation in, 11

Diseases related to Skin/hair/eye Pigmentation, Variation in, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 pulmonary embolism 10.3
2 xeroderma pigmentosum, complementation group a 10.2
3 xeroderma pigmentosum, variant type 10.2
4 melanoma 10.1
5 endometriosis 10.1
6 skin carcinoma 10.1
7 alcohol dependence 10.0
8 hair whorl 10.0
9 renal cell carcinoma, nonpapillary 10.0
10 ovarian cancer 10.0
11 thrombophilia due to thrombin defect 10.0
12 mulchandani-bhoj-conlin syndrome 10.0
13 helix syndrome 10.0
14 thrombosis 10.0
15 cerebral artery occlusion 10.0
16 mumps 10.0
17 renal hypertension 10.0
18 pica disease 10.0
19 disease of mental health 10.0
20 mood disorder 10.0
21 mouth disease 10.0
22 syphilis 10.0
23 brain edema 10.0
24 measles 10.0
25 rubella 10.0
26 diabetes insipidus 10.0
27 48,xyyy 10.0
28 precocious puberty 10.0
29 central precocious puberty 10.0
30 lentigines 10.0
31 infertility 9.9
32 posttransplant acute limbic encephalitis 9.9

Graphical network of the top 20 diseases related to Skin/hair/eye Pigmentation, Variation in, 2:



Diseases related to Skin/hair/eye Pigmentation, Variation in, 2

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 2

Human phenotypes related to Skin/hair/eye Pigmentation, Variation in, 2:

31
# Description HPO Frequency HPO Source Accession
1 red hair 31 HP:0002297

Symptoms via clinical synopsis from OMIM:

56
Hair:
red hair

Clinical features from OMIM:

266300

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Placebo-controlled Assessment of the Effect of a Food Supplement on Skin Protection After Exposure to UV Radiation Completed NCT00351689 Phase 1
2 Effects of Isoflavone Combined With Astaxanthin on Skin Aging Completed NCT02373111

Search NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 2

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 2

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 2:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 2 29 MC1R
2 Uv-Induced Skin Damage, Susceptibility to 29

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 2

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 2:

40
Skin, Eye, Bone, Thymus, Neutrophil, Brain

Publications for Skin/hair/eye Pigmentation, Variation in, 2

Articles related to Skin/hair/eye Pigmentation, Variation in, 2:

(show top 50) (show all 126)
# Title Authors PMID Year
1
Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. 61 56
7581459 1995
2
An ultraviolet-radiation-independent pathway to melanoma carcinogenesis in the red hair/fair skin background. 56
23123854 2012
3
Genetic determinants of hair, eye and skin pigmentation in Europeans. 56
17952075 2007
4
Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians. 6
16463023 2006
5
Phenotypic expression of melanocortin-1 receptor mutations in Black Jamaicans. 56
12839583 2003
6
MC1R studies in dogs with melanistic mask or brindle patterns. 56
12692165 2003
7
The melanocortin-1-receptor gene is the major freckle gene. 56
11487574 2001
8
Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. 56
11030758 2000
9
Identification of a premature stop codon in the melanocyte-stimulating hormone receptor gene (MC1R) in Labrador and Golden retrievers with yellow coat colour. 56
10895310 2000
10
Melanocortin 1 receptor variation in the domestic dog. 56
10602988 2000
11
A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. 56
8995760 1996
12
Red coat color in Holstein cattle is associated with a deletion in the MSHR gene. 56
8661706 1996
13
A study in scarlet. 56
7581437 1995
14
The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. 56
8535072 1995
15
Major locus for red hair color linked to MNS blood groups on chromosome 4. 56
3477350 1987
16
Ataxia-deafness-retardation syndrome in three sisters. 56
3470627 1987
17
The inheritance of red hair. 56
5593927 1967
18
Studies on linkage in man; red hair versus blood groups, P.T.C. and eye colour. 56
13125201 1954
19
Red hair colour as a genetical character. 56
13008287 1952
20
Potential role of resveratrol-loaded elastic sorbitan monostearate nanovesicles for the prevention of UV-induced skin damage. 61
30741053 2020
21
Neural stem cells and the secreted proteins TIMPs ameliorate UVB-induced skin photodamage. 61
31421823 2019
22
Fibrillin microfibrils and elastic fibre proteins: Functional interactions and extracellular regulation of growth factors. 61
30016650 2019
23
Rutin and ascorbic acid cooperation in antioxidant and antiapoptotic effect on human skin keratinocytes and fibroblasts exposed to UVA and UVB radiation. 61
30783768 2019
24
The beneficial role of functional food components in mitigating ultraviolet-induced skin damage. 61
30698876 2019
25
Depigmentation and Anti-aging Treatment by Natural Molecules. 61
31269882 2019
26
Carvedilol inhibits EGF-mediated JB6 P+ colony formation through a mechanism independent of adrenoceptors. 61
31107911 2019
27
UV Protection by Natural Products: C. myrrha Oil Versus Sunscreen. 61
30124732 2018
28
Metabolic engineering of Corynebacterium glutamicum for production of sunscreen shinorine. 61
29558858 2018
29
Effects of Dietary Paprika Xanthophylls on Ultraviolet Light-Induced Skin Damage: A Double-Blind Placebo-Controlled Study. 61
29877227 2018
30
Dual Effects of Alpha-Hydroxy Acids on the Skin. 61
29642579 2018
31
Targeting Mitochondrial Oxidative Stress to Mitigate UV-Induced Skin Damage. 61
30177881 2018
32
Ameliorative effects of fruit stem extract from Muscat Bailey A against chronic UV-induced skin damage in BALB/c mice. 61
29793331 2018
33
Mechanisms and prevention of UV-induced melanoma. 61
28703311 2018
34
Caffeine Protects Skin from Oxidative Stress-Induced Senescence through the Activation of Autophagy. 61
30555576 2018
35
Targeting NRF2 for Improved Skin Barrier Function and Photoprotection: Focus on the Achiote-Derived Apocarotenoid Bixin. 61
29258247 2017
36
Dual-Prevention for UV-Induced Skin Damage: Incorporation of Melatonin-Loaded Elastic Niosomes into Octyl Methoxycinnamate Pickering Emulsions. 61
28493002 2017
37
Synthesis and evaluation of xanthone derivatives as acid sphingomyelinase inhibitors: potential treatment for UV-induced skin damage. 61
29076348 2017
38
Autophagy in UV Damage Response. 61
27935061 2017
39
Phytochemicals for the Prevention of Photocarcinogenesis. 61
28063168 2017
40
Photoaging Mobile Apps as a Novel Opportunity for Melanoma Prevention: Pilot Study. 61
28747297 2017
41
Topical application of ST266 reduces UV-induced skin damage. 61
29184429 2017
42
Protective effect of a hydrogel containing Achyrocline satureioides extract-loaded nanoemulsion against UV-induced skin damage. 61
27599114 2016
43
2016 Arte Poster Competition First Place Winner: Circadian Rhythm and UV-Induced Skin Damage: An In Vivo Study. 61
27602977 2016
44
Design of novel starch-based Pickering emulsions as platforms for skin photoprotection. 61
27344635 2016
45
Characterization and mechanisms of photoageing-related changes in skin. Damages of basement membrane and dermal structures. 61
27539897 2016
46
Melatonin-based pickering emulsion for skin's photoprotection. 61
26755411 2016
47
The Establishment of an Assay to Measure DNA Polymerase-Catalyzed Repair of UVB-Induced DNA Damage in Skin Cells and Screening of DNA Polymerase Enhancers from Medicinal Plants. 61
27153062 2016
48
Conditioned medium from human bone marrow-derived mesenchymal stem cells promotes skin moisturization and effacement of wrinkles in UVB-irradiated SKH-1 hairless mice. 61
26577060 2016
49
Photo-protective activity of pogostone against UV-induced skin premature aging in mice. 61
26929999 2016
50
Paeoniflorin attenuates ultraviolet B-induced apoptosis in human keratinocytes by inhibiting the ROS-p38-p53 pathway. 61
26936104 2016

Variations for Skin/hair/eye Pigmentation, Variation in, 2

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MC1R NM_002386.3(MC1R):c.437_439TCT[1] (p.Phe147del)short repeat risk factor 14313 rs1310082996 16:89986103-89986105 16:89919695-89919697
2 MC1R NM_002386.3(MC1R):c.470C>T (p.Thr157Ile)SNV risk factor 14314 rs104894524 16:89986136-89986136 16:89919728-89919728
3 MC1R NM_002386.3(MC1R):c.475C>A (p.Pro159Thr)SNV risk factor 14315 rs104894523 16:89986141-89986141 16:89919733-89919733
4 MC1R NM_002386.3(MC1R):c.583T>G (p.Phe195Val)SNV Uncertain significance 239157 rs377580634 16:89986249-89986249 16:89919841-89919841
5 MC1R NM_002386.3(MC1R):c.112G>A (p.Val38Met)SNV Uncertain significance 406211 rs200050206 16:89985778-89985778 16:89919370-89919370
6 MC1R NM_002386.3(MC1R):c.104G>A (p.Cys35Tyr)SNV Uncertain significance 430181 rs779504604 16:89985770-89985770 16:89919362-89919362
7 MC1R NM_002386.3(MC1R):c.265G>C (p.Gly89Arg)SNV Uncertain significance 449207 rs34540312 16:89985931-89985931 16:89919523-89919523
8 MC1R NM_002386.3(MC1R):c.332C>T (p.Ala111Val)SNV Uncertain significance 470704 rs201489928 16:89985998-89985998 16:89919590-89919590
9 MC1R NM_002386.3(MC1R):c.766C>T (p.Pro256Ser)SNV Uncertain significance 470711 rs200215218 16:89986432-89986432 16:89920024-89920024

Expression for Skin/hair/eye Pigmentation, Variation in, 2

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 2.

Pathways for Skin/hair/eye Pigmentation, Variation in, 2

GO Terms for Skin/hair/eye Pigmentation, Variation in, 2

Sources for Skin/hair/eye Pigmentation, Variation in, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....