SHEP1
MCID: SKN065
MIFTS: 27

Skin/hair/eye Pigmentation, Variation in, 1 (SHEP1)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 1

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 1:

Name: Skin/hair/eye Pigmentation, Variation in, 1 56 29 6
Skin/hair/eye Pigmentation 1, Blue/brown Eyes 56
Eye Color, Blue/nonblue 56
Brown Eye Color 2; Bey2 56
Eye Color, Brown/blue 56
Eye Color 3; Eycl3 56
Hair Color 3; Hcl3 56
Brown Eye Color 2 56
Hair Color 3 56
Eye Color 3 56
Shep1 56
Eycl3 56
Bey2 56
Hcl3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive at bey locus
eye color probably polygenic


HPO:

31
skin/hair/eye pigmentation, variation in, 1:
Inheritance autosomal recessive inheritance polygenic inheritance


Classifications:



External Ids:

OMIM 56 227220
OMIM Phenotypic Series 56 PS227220
MedGen 41 C1856895

Summaries for Skin/hair/eye Pigmentation, Variation in, 1

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 1, also known as skin/hair/eye pigmentation 1, blue/brown eyes, is related to albinism, oculocutaneous, type vi and kallmann syndrome. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 1 is OCA2 (OCA2 Melanosomal Transmembrane Protein). Affiliated tissues include eye, skin and monocytes, and related phenotypes are abnormality of the eye and adipose tissue

More information from OMIM: 227220 PS227220

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 1

Graphical network of the top 20 diseases related to Skin/hair/eye Pigmentation, Variation in, 1:



Diseases related to Skin/hair/eye Pigmentation, Variation in, 1

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 1

Human phenotypes related to Skin/hair/eye Pigmentation, Variation in, 1:

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

Symptoms via clinical synopsis from OMIM:

56
Eyes:
blue color recessive to brown

Clinical features from OMIM:

227220

MGI Mouse Phenotypes related to Skin/hair/eye Pigmentation, Variation in, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.8 HERC2 IRF4 OCA2

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 1

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 1

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 1

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 1:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 1 29 HERC2 OCA2

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 1

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 1:

40
Eye, Skin, Monocytes, B Cells

Publications for Skin/hair/eye Pigmentation, Variation in, 1

Articles related to Skin/hair/eye Pigmentation, Variation in, 1:

(show all 34)
# Title Authors PMID Year
1
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. 56 6
18172690 2008
2
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 6 56
18252221 2008
3
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. 6 56
18252222 2008
4
Genetic determinants of hair, eye and skin pigmentation in Europeans. 56 6
17952075 2007
5
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. 56 6
17236130 2007
6
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. 6 56
15889046 2005
7
P gene as an inherited biomarker of human eye color. 56 6
12163334 2002
8
A global view of the OCA2-HERC2 region and pigmentation. 56
22065085 2012
9
HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. 6
22234890 2012
10
Gene-gene interactions contribute to eye colour variation in humans. 56
21471978 2011
11
A genomewide association study of skin pigmentation in a South Asian population. 56
17999355 2007
12
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. 56
17182896 2007
13
Identifying genes underlying skin pigmentation differences among human populations. 56
16977434 2007
14
Replicated linkage for eye color on 15q using comparative ratings of sibling pairs. 56
16341609 2006
15
A haplotype map of the human genome. 56
16255080 2005
16
Eye colour: portals into pigmentation genes and ancestry. 56
15262401 2004
17
Sequences associated with human iris pigmentation. 56
14704187 2003
18
Hemispheric difference in human skin color. 56
9453695 1997
19
Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q. 56
8875191 1996
20
Major genes of eye color and hair color linked to LU and SE. 56
3568446 1987
21
HEREDITY OF EYE-COLOR IN MAN. 56
17754423 1907
22
Monocyte Adhesion and Plaque Recruitment During Atherosclerosis Development Is Regulated by the Adapter Protein Chat-H/SHEP1. 61
27417580 2016
23
TRAIL resistance in human neuroblastoma SK-N-AS cells is dependent on protein kinase C and involves inhibition of caspase-3 proteolytic processing. 61
22798207 2012
24
α4β2 nicotinic receptors partially mediate anti-inflammatory effects through Janus kinase 2-signal transducer and activator of transcription 3 but not calcium or cAMP signaling. 61
20943775 2011
25
The SH2 domain protein Shep1 regulates the in vivo signaling function of the scaffolding protein Cas. 61
20603213 2010
26
SHEP1 partners with CasL to promote marginal zone B-cell maturation. 61
20956287 2010
27
The SRC homology 2 domain protein Shep1 plays an important role in the penetration of olfactory sensory axons into the forebrain. 61
20881139 2010
28
Activation of Sonic hedgehog signaling pathway in S-type neuroblastoma cell lines. 61
20556567 2010
29
Splice variants and expression patterns of SHEP1, BCAR3 and NSP1, a gene family involved in integrin and receptor tyrosine kinase signaling. 61
17270363 2007
30
Molecular determinants for interaction of SHEP1 with Cas localize to a highly solvent-protected region in the complex. 61
16364304 2006
31
SHEP1 function in cell migration is impaired by a single amino acid mutation that disrupts association with the scaffolding protein cas but not with Ras GTPases. 61
15272013 2004
32
beta-Amyloid directly inhibits human alpha4beta2-nicotinic acetylcholine receptors heterologously expressed in human SH-EP1 cells. 61
15234980 2004
33
Characterization of human alpha 4 beta 2-nicotinic acetylcholine receptors stably and heterologously expressed in native nicotinic receptor-null SH-EP1 human epithelial cells. 61
14645658 2003
34
A novel signaling intermediate, SHEP1, directly couples Eph receptors to R-Ras and Rap1A. 61
10542222 1999

Variations for Skin/hair/eye Pigmentation, Variation in, 1

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 1:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HERC2 NM_004667.5(HERC2):c.323-4749G>ASNV association 4743 rs1667394 15:28530182-28530182 15:28285036-28285036
2 HERC2 NM_004667.5(HERC2):c.1598+247A>GSNV Affects 4744 rs916977 15:28513364-28513364 15:28268218-28268218
3 HERC2 NM_004667.5(HERC2):c.13272+874T>CSNV association 4745 rs12913832 15:28365618-28365618 15:28120472-28120472
4 OCA2 NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)SNV Pathogenic 961 rs121918170 15:28228529-28228529 15:27983383-27983383
5 OCA2 NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)SNV Pathogenic 955 rs121918166 15:28230247-28230247 15:27985101-27985101
6 OCA2 NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)SNV Pathogenic/Likely pathogenic 956 rs121918167 15:28116316-28116316 15:27871170-27871170
7 OCA2 NM_000275.3(OCA2):c.1503+5G>ASNV Pathogenic/Likely pathogenic 211768 rs368124046 15:28228486-28228486 15:27983340-27983340
8 HERC2 NM_004667.6(HERC2):c.7768_7772dup (p.Gly2592fs)duplication Likely pathogenic 804471 15:28443859-28443860 15:28198713-28198714
9 OCA2 NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)SNV Likely pathogenic 429697 rs776814755 15:28096536-28096536 15:27851390-27851390
10 OCA2 NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)SNV Likely pathogenic 436090 rs141949212 15:28090198-28090198 15:27845052-27845052
11 HERC2 NM_004667.5(HERC2):c.4651A>C (p.Ile1551Leu)SNV Uncertain significance 518259 rs200864382 15:28478316-28478316 15:28233170-28233170
12 IRF4 NM_002460.4(IRF4):c.1089G>T (p.Gln363His)SNV Uncertain significance 587561 rs901736609 6:401767-401767 6:401767-401767
13 OCA2 NM_000275.3(OCA2):c.1239+5G>CSNV Uncertain significance 193985 rs757119713 15:28231728-28231728 15:27986582-27986582
14 HERC2 NM_004667.5(HERC2):c.7729G>A (p.Val2577Ile)SNV Uncertain significance 235205 rs146366728 15:28443903-28443903 15:28198757-28198757
15 HERC2 NM_004667.5(HERC2):c.13612G>A (p.Val4538Met)SNV Uncertain significance 392903 rs149338352 15:28360685-28360685 15:28115539-28115539
16 OCA2 NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)SNV Benign 962 rs1800401 15:28260053-28260053 15:28014907-28014907
17 OCA2 NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln)SNV Benign 963 rs1800407 15:28230318-28230318 15:27985172-27985172
18 OCA2 NM_000275.3(OCA2):c.-22+8550=undetermined variant no interpretation for the single variant 872982 rs4778138
19 OCA2 NM_000275.3(OCA2):c.-22+132=SNV no interpretation for the single variant 872969 rs7495174
20 OCA2 NM_000275.3(OCA2):c.-22+5657T>GSNV no interpretation for the single variant 872970 rs4778241

Expression for Skin/hair/eye Pigmentation, Variation in, 1

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 1.

Pathways for Skin/hair/eye Pigmentation, Variation in, 1

GO Terms for Skin/hair/eye Pigmentation, Variation in, 1

Sources for Skin/hair/eye Pigmentation, Variation in, 1

3 CDC
7 CNVD
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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