SHEP8
MCID: SKN070
MIFTS: 15

Skin/hair/eye Pigmentation, Variation in, 8 (SHEP8)

Categories: Cancer diseases, Eye diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 8

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 8:

Name: Skin/hair/eye Pigmentation, Variation in, 8 57 29 13 6
Skin/hair/eye Pigmentation 8, Blue/light Eye Color 57
Pigmentation, Skin/hair/eye, Variation in, Type 8 39
Skin/hair/eye Pigmentation 8, Freckling/sunburn 57
Skin/hair/eye Pigmentation 8, Brown Hair 57
Skin/hair/eye Pigmentation 8, Fair Skin 57
Shep8 57

Classifications:



External Ids:

OMIM® 57 611724
OMIM Phenotypic Series 57 PS227220
MedGen 41 C2673265

Summaries for Skin/hair/eye Pigmentation, Variation in, 8

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 8, is also known as skin/hair/eye pigmentation 8, blue/light eye color. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 8 is IRF4 (Interferon Regulatory Factor 4). Affiliated tissues include eye, skin and prostate.

More information from OMIM: 611724 PS227220

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 8

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 8

Clinical features from OMIM®:

611724 (Updated 20-May-2021)

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 8

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 8

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 8

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 8:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 8 29 IRF4

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 8

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 8:

40
Eye, Skin, Prostate

Publications for Skin/hair/eye Pigmentation, Variation in, 8

Articles related to Skin/hair/eye Pigmentation, Variation in, 8:

# Title Authors PMID Year
1
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway. 57 6
24267888 2013
2
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. 6 57
18483556 2008
3
Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter. 6
25631878 2015
4
IRF4 variants have age-specific effects on nevus count and predispose to melanoma. 57
20602913 2010
5
Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. 57
19710684 2010
6
Genetic determinants of hair, eye and skin pigmentation in Europeans. 57
17952075 2007
7
Tumor-Stromal Interactions Influence Radiation Sensitivity in Epithelial- versus Mesenchymal-Like Prostate Cancer Cells. 61
20798867 2010

Variations for Skin/hair/eye Pigmentation, Variation in, 8

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IRF4 NM_002460.4(IRF4):c.492+386C>T SNV Affects 160346 rs12203592 GRCh37: 6:396321-396321
GRCh38: 6:396321-396321

Expression for Skin/hair/eye Pigmentation, Variation in, 8

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 8.

Pathways for Skin/hair/eye Pigmentation, Variation in, 8

GO Terms for Skin/hair/eye Pigmentation, Variation in, 8

Sources for Skin/hair/eye Pigmentation, Variation in, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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