Property Summary

NCBI Gene PubMed Count 20
PubMed Score 8.31
PubTator Score 13.71

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
breast carcinoma 1614 2.40109204147804E-37
lung carcinoma 2844 1.46442095475181E-20
Breast cancer 3099 8.30718845856581E-18
ovarian cancer 8492 1.52849944684141E-9
glioblastoma 5572 9.06955896875127E-9
osteosarcoma 7933 2.77053108426535E-6
ulcerative colitis 2087 2.603117673767E-5
invasive ductal carcinoma 2950 5.15151815657225E-5
Amyotrophic Lateral Sclerosis 432 1.6652984258874E-4
fascioscapulohumeral muscular dystrophy 100 3.0548347327132E-4
adult high grade glioma 2148 4.80238368714614E-4
atypical teratoid / rhabdoid tumor 4369 5.12922829534297E-4
ductal carcinoma in situ 1745 9.74027850195548E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00103581870673082
acute quadriplegic myopathy 1157 0.00435502329236616
sonic hedgehog group medulloblastoma 1482 0.00437206818152854
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00465765791323932
hereditary spastic paraplegia 313 0.0105065838512539
non primary Sjogren syndrome sicca 840 0.0259200491536389
subependymal giant cell astrocytoma 2287 0.0334999632536946
Disease Target Count Z-score Confidence
hepatocellular carcinoma 550 0.0 5.0
Disease Target Count Z-score Confidence
Cataract 104 0.0 4.0
Leukodystrophy 30 0.0 4.0
Disease Target Count Z-score Confidence
Pelizaeus-Merzbacher disease 20 3.662 1.8
Disease Target Count
Leukodystrophy, hypomyelinating, 5 1

Expression

Synonym

Accession Q9BYI3 A0A024RA06 A4D145 B8ZZJ1 Q6N010 Q75MR4 Q7LDZ4 Q96MX1 Q96NQ6
Symbols HCC
HLD5
HYCC1
DRCTNNB1A

Gene

PDB

5DSE  

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid

Pathway (1)

Gene RIF (7)

PMID Text
26571211 point to a role for FAM126A in supporting myelination, an important process in development and also following acute exacerbations in multiple sclerosis
24417797 A disease-associated FAM126A missense mutation causes protein accumulation in subcellular compartments.
23998934 Identified two novel FAM126A mutations in three hypomyelination and congenital cataract affected members of two unrelated families.
22749724 Two novel mutations in the FAM126A gene were identified in 2 unrelated families with Hypomyelination and congenital cataract
21911699 Molecular analysis of 9 additional cases in this review depicts 3 novel mutations of FAM126A with clinical variability ranging from severe early-onset neurologic impairment to a milder phenotype
17928815 A large intragenic deletion of DRCTNNB1A does not lead to congenital cataract in all of the patients in an afflicted family.
16951682 Mutation of this gene results in defective myelination of both the central and peripheral nervous system.

AA Sequence

MFTSEKGVVEEWLSEFKTLPETSLPNYATNLKDKSSLVSSLYKVIQEPQSELLEPVCHQLFEFYRSGEEQ      1 - 70
LLQFTLQFLPELIWCYLAVSASRNVHSSGCIEALLLGVYNLEIVDKQGHTKVLSFTIPSLSKPSVYHEPS     71 - 140
SIGSMALTESALSQHGLSKVVYSGPHPQREMLTAQNRFEVLTFLLLCYNAALTYMPSVSLQSLCQICSRI    141 - 210
CVCGYPRQHVRKYKGISSRIPVSSGFMVQMLTGIYFAFYNGEWDLAQKALDDIIYRAQLELYPEPLLVAN    211 - 280
AIKASLPHGPMKSNKEGTRCIQVEITPTSSRISRNAVTSMSIRGHRWKRHGNTELTGQEELMEISEVDEG    281 - 350
FYSRAASSTSQSGLSNSSHNCSNKPSIGKNHRRSGGSKTGGKEKETTGESCKDHFARKQTQRAQSENLEL    351 - 420
LSLKRLTLTTSQSLPKPSSHGLAKTAATVFSKSFEQVSGVTVPHNPSSAVGCGAGTDANRFSACSLQEEK    421 - 490
LIYVSERTELPMKHQSGQQRPPSISITLSTD                                           491 - 521
//

Text Mined References (21)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26571211 2016 The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.
24417797 2014 Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23998934 2013 Novel FAM126A mutations in hypomyelination and congenital cataract disease.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22749724 2013 Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.
21911699 2011 Hypomyelination and congenital cataract: broadening the clinical phenotype.
21254220 2011 Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
More...