SHEP1
MCID: SKN065
MIFTS: 27

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

Categories: Cancer diseases, Eye diseases, 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 57 29 6
Skin/hair/eye Pigmentation 1, Blue/brown Eyes 57
Eye Color, Blue/nonblue 57
Brown Eye Color 2; Bey2 57
Eye Color, Brown/blue 57
Eye Color 3; Eycl3 57
Hair Color 3; Hcl3 57
Brown Eye Color 2 57
Hair Color 3 57
Eye Color 3 57
Shep1 57
Eycl3 57
Bey2 57
Hcl3 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 227220
OMIM Phenotypic Series 57 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 acute contagious conjunctivitis. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 1 is OCA2 (OCA2 Melanosomal Transmembrane Protein). Affiliated tissues include eye and skin, 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®:

57 (Updated 20-May-2021)
Eyes:
blue color recessive to brown

Clinical features from OMIM®:

227220 (Updated 20-May-2021)

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

46
# 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

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

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

(show all 38)
# 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. 57 6
18172690 2008
2
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. 6 57
18252222 2008
3
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 57 6
18252221 2008
4
Genetic determinants of hair, eye and skin pigmentation in Europeans. 6 57
17952075 2007
5
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. 6 57
17236130 2007
6
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. 57 6
15889046 2005
7
P gene as an inherited biomarker of human eye color. 57 6
12163334 2002
8
Loci associated with skin pigmentation identified in African populations. 57
29025994 2017
9
A global view of the OCA2-HERC2 region and pigmentation. 57
22065085 2012
10
HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. 6
22234890 2012
11
Gene-gene interactions contribute to eye colour variation in humans. 57
21471978 2011
12
A genomewide association study of skin pigmentation in a South Asian population. 57
17999355 2007
13
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. 57
17182896 2007
14
Identifying genes underlying skin pigmentation differences among human populations. 57
16977434 2007
15
Replicated linkage for eye color on 15q using comparative ratings of sibling pairs. 57
16341609 2006
16
A haplotype map of the human genome. 57
16255080 2005
17
Eye colour: portals into pigmentation genes and ancestry. 57
15262401 2004
18
Sequences associated with human iris pigmentation. 57
14704187 2003
19
Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 6
10987646 1999
20
Hemispheric difference in human skin color. 57
9453695 1997
21
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. 6
8980282 1997
22
Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q. 57
8875191 1996
23
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. 6
8302318 1994
24
Major genes of eye color and hair color linked to LU and SE. 57
3568446 1987
25
HEREDITY OF EYE-COLOR IN MAN. 57
17754423 1907
26
Monocyte Adhesion and Plaque Recruitment During Atherosclerosis Development Is Regulated by the Adapter Protein Chat-H/SHEP1. 61
27417580 2016
27
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
28
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
29
The SH2 domain protein Shep1 regulates the in vivo signaling function of the scaffolding protein Cas. 61
20603213 2010
30
SHEP1 partners with CasL to promote marginal zone B-cell maturation. 61
20956287 2010
31
The SRC homology 2 domain protein Shep1 plays an important role in the penetration of olfactory sensory axons into the forebrain. 61
20881139 2010
32
Activation of Sonic hedgehog signaling pathway in S-type neuroblastoma cell lines. 61
20556567 2010
33
Splice variants and expression patterns of SHEP1, BCAR3 and NSP1, a gene family involved in integrin and receptor tyrosine kinase signaling. 61
17270363 2007
34
Molecular determinants for interaction of SHEP1 with Cas localize to a highly solvent-protected region in the complex. 61
16364304 2006
35
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
36
beta-Amyloid directly inhibits human alpha4beta2-nicotinic acetylcholine receptors heterologously expressed in human SH-EP1 cells. 61
15234980 2004
37
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
38
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 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HERC2 NM_004667.5(HERC2):c.323-4749G>A SNV association 4743 rs1667394 GRCh37: 15:28530182-28530182
GRCh38: 15:28285036-28285036
2 HERC2 NM_004667.5(HERC2):c.1598+247A>G SNV Affects 4744 rs916977 GRCh37: 15:28513364-28513364
GRCh38: 15:28268218-28268218
3 HERC2 NM_004667.5(HERC2):c.13272+874T>C SNV association 4745 rs12913832 GRCh37: 15:28365618-28365618
GRCh38: 15:28120472-28120472
4 OCA2 NM_000275.3(OCA2):c.-22+8550= Variation Affects 964 GRCh37:
GRCh38:
5 OCA2 NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) SNV Affects 962 rs1800401 GRCh37: 15:28260053-28260053
GRCh38: 15:28014907-28014907
6 OCA2 NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) SNV Affects 963 rs1800407 GRCh37: 15:28230318-28230318
GRCh38: 15:27985172-27985172
7 OCA2 NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) SNV Pathogenic 956 rs121918167 GRCh37: 15:28116316-28116316
GRCh38: 15:27871170-27871170
8 OCA2 NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) SNV Pathogenic 961 rs121918170 GRCh37: 15:28228529-28228529
GRCh38: 15:27983383-27983383
9 OCA2 NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) SNV Pathogenic 955 rs121918166 GRCh37: 15:28230247-28230247
GRCh38: 15:27985101-27985101
10 OCA2 NM_000275.3(OCA2):c.1503+5G>A SNV Likely pathogenic 211768 rs368124046 GRCh37: 15:28228486-28228486
GRCh38: 15:27983340-27983340
11 OCA2 NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) SNV Likely pathogenic 436090 rs141949212 GRCh37: 15:28090198-28090198
GRCh38: 15:27845052-27845052
12 HERC2 NM_004667.6(HERC2):c.7768_7772dup (p.Gly2592fs) Duplication Likely pathogenic 804471 rs1596199137 GRCh37: 15:28443859-28443860
GRCh38: 15:28198713-28198714
13 OCA2 NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) SNV Likely pathogenic 429697 rs776814755 GRCh37: 15:28096536-28096536
GRCh38: 15:27851390-27851390
14 HERC2 NM_004667.5(HERC2):c.4651A>C (p.Ile1551Leu) SNV Uncertain significance 518259 rs200864382 GRCh37: 15:28478316-28478316
GRCh38: 15:28233170-28233170
15 HERC2 NM_004667.5(HERC2):c.7729G>A (p.Val2577Ile) SNV Uncertain significance 235205 rs146366728 GRCh37: 15:28443903-28443903
GRCh38: 15:28198757-28198757
16 IRF4 NM_002460.4(IRF4):c.1089G>T (p.Gln363His) SNV Uncertain significance 587561 rs901736609 GRCh37: 6:401767-401767
GRCh38: 6:401767-401767
17 HERC2 NM_004667.5(HERC2):c.13612G>A (p.Val4538Met) SNV Uncertain significance 392903 rs149338352 GRCh37: 15:28360685-28360685
GRCh38: 15:28115539-28115539
18 OCA2 NM_000275.3(OCA2):c.1239+5G>C SNV Uncertain significance 193985 rs757119713 GRCh37: 15:28231728-28231728
GRCh38: 15:27986582-27986582
19 OCA2 NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) SNV Uncertain significance 960 rs121918169 GRCh37: 15:28171315-28171315
GRCh38: 15:27926169-27926169

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
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
Content
Loading form....