SHEP5
MCID: SKN066
MIFTS: 18

Skin/hair/eye Pigmentation, Variation in, 5 (SHEP5)

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

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 5

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 5:

Name: Skin/hair/eye Pigmentation, Variation in, 5 57 29 6
Shep5 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
eye color probably polygenic
autosomal recessive at gey locus


HPO:

31
skin/hair/eye pigmentation, variation in, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 227240
OMIM Phenotypic Series 57 PS227220
MedGen 41 C2673584

Summaries for Skin/hair/eye Pigmentation, Variation in, 5

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 5, also known as shep5, is related to basal cell carcinoma 1. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 5 is SLC45A2 (Solute Carrier Family 45 Member 2). Affiliated tissues include eye and skin, and related phenotype is abnormality of the eye.

More information from OMIM: 227240 PS227220

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 5

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 5

Human phenotypes related to Skin/hair/eye Pigmentation, Variation in, 5:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 31 HP:0000478

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
blue color recessive to green

Clinical features from OMIM®:

227240 (Updated 05-Apr-2021)

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 5

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 5

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 5

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 5:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 5 29 SLC45A2

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 5

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 5:

40
Eye, Skin

Publications for Skin/hair/eye Pigmentation, Variation in, 5

Articles related to Skin/hair/eye Pigmentation, Variation in, 5:

# Title Authors PMID Year
1
New common variants affecting susceptibility to basal cell carcinoma. 57 6
19578363 2009
2
A genomewide association study of skin pigmentation in a South Asian population. 6 57
17999355 2007
3
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. 57 6
15714523 2005
4
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. 6
18683857 2008
5
SLC45A2: a novel malignant melanoma-associated gene. 6
18563784 2008
6
Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation. 57
17358008 2007
7
Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis. 6
17044855 2006

Variations for Skin/hair/eye Pigmentation, Variation in, 5

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC45A2 NM_016180.5(SLC45A2):c.1122= (p.Leu374=) SNV association 4505 rs16891982 GRCh37: 5:33951693-33951693
GRCh38: 5:33951588-33951588
2 SLC45A2 NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) SNV association 4504 rs26722 GRCh37: 5:33963870-33963870
GRCh38: 5:33963765-33963765
3 SLC45A2 NM_016180.5(SLC45A2):c.870del (p.Asn290fs) Deletion Likely pathogenic 828165 rs1579547726 GRCh37: 5:33963814-33963814
GRCh38: 5:33963709-33963709
4 SLC45A2 NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) SNV Uncertain significance 212205 rs769448704 GRCh37: 5:33947311-33947311
GRCh38: 5:33947206-33947206

Expression for Skin/hair/eye Pigmentation, Variation in, 5

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 5.

Pathways for Skin/hair/eye Pigmentation, Variation in, 5

GO Terms for Skin/hair/eye Pigmentation, Variation in, 5

Sources for Skin/hair/eye Pigmentation, Variation in, 5

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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