1. Gene
  2. BFSP2 - beaded filament structural protein 2 Gene

BFSP2 - beaded filament structural protein 2 Gene

Homo sapiens

Also known as CP47; CP49; LIFL-L; CTRCT12; PHAKOSIN

Gene ID: 8419 | Gene type: protein coding

About BFSP2

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:133,400,056-133,475,208 (from NCBI)

This gene has 6 transcripts (splice variants), 193 orthologues, 68 paralogues and is associated with 7 phenotypes. Low expression observed in reference dataset.

Summary

More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]

BFSP2 Products(1)

mRNA Protein Name
NM_003571.4 NP_003562.1 phakinin
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BFSP2 Protein Structure

Filament

Filament: Intermediate filament protein (115 - 414)

  • 0
  • 100
  • 200
  • 300
  • 415 a.a.
Protein Preferred Names Protein Names

phakinin

49 kDa cytoskeletal protein

BFSP2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra BFSP2 Q13515 BICRAL Homo sapiens Q6AI39
Validated Y2H
32296183
Intra BFSP2 Q13515 BICRAL Homo sapiens Q6AI39
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 BICRAL Homo sapiens Q6AI39
Y2H Array
32296183
Intra BFSP2 Q13515 MBIP Homo sapiens Q9NS73-5
Validated Y2H
25910212
Intra BFSP2 Q13515 MBIP Homo sapiens Q9NS73-5
Y2H Bait-Prey Pool
25910212
Intra BFSP2 Q13515 MBIP Homo sapiens Q9NS73-5
Y2H Prey Pooling
25416956
Intra BFSP2 Q13515 MBIP Homo sapiens Q9NS73-5
Y2H Array
25910212
Intra BFSP2 Q13515 MBIP Homo sapiens Q9NS73-5
Y2H Array
25416956
Intra BFSP2 Q13515 BEX5 Homo sapiens Q5H9J7
Validated Y2H
32296183
Intra BFSP2 Q13515 BEX5 Homo sapiens Q5H9J7
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 BEX5 Homo sapiens Q5H9J7
Y2H Array
32296183
Intra BFSP2 Q13515 ZNF343 Homo sapiens Q6P1L6
Y2H Array
32296183
Intra BFSP2 Q13515 ZNF343 Homo sapiens Q6P1L6
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 ZNF343 Homo sapiens Q6P1L6
Validated Y2H
32296183
Intra BFSP2 Q13515 PBX4 Homo sapiens Q9BYU1
Y2H Array
32296183
Intra BFSP2 Q13515 PBX4 Homo sapiens Q9BYU1
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 PBX4 Homo sapiens Q9BYU1
Validated Y2H
32296183
Intra BFSP2 Q13515 MAGEA6 Homo sapiens P43360
Y2H Array
32296183
Intra BFSP2 Q13515 MAGEA6 Homo sapiens P43360
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 KRT37 Homo sapiens O76014
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 KRT37 Homo sapiens O76014
Y2H Array
32296183
Intra BFSP2 Q13515 SCOC Homo sapiens Q9UIL1-3
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 SCOC Homo sapiens Q9UIL1-3
Validated Y2H
32296183
Intra BFSP2 Q13515 SCOC Homo sapiens Q9UIL1-3
Y2H Array
32296183
Intra BFSP2 Q13515 PPP1R13B Homo sapiens Q96KQ4
Validated Y2H
32296183
Intra BFSP2 Q13515 PPP1R13B Homo sapiens Q96KQ4
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 PPP1R13B Homo sapiens Q96KQ4
Y2H Array
32296183
Intra BFSP2 Q13515 CDR2L Homo sapiens Q86X02
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 CDR2L Homo sapiens Q86X02
Validated Y2H
32296183
Intra BFSP2 Q13515 CDR2L Homo sapiens Q86X02
Y2H Array
32296183
Intra BFSP2 Q13515 CDR2L Homo sapiens Q86X02
Anti Tag CoIP
33961781
Intra BFSP2 Q13515 CDR2L Homo sapiens Q86X02
Anti Tag CoIP
28514442
Intra BFSP2 Q13515 CEP63 Homo sapiens Q96MT8-3
Validated Y2H
32296183
Intra BFSP2 Q13515 CEP63 Homo sapiens Q96MT8-3
Y2H Array
32296183
Intra BFSP2 Q13515 CEP63 Homo sapiens Q96MT8-3
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 CAGE1 Homo sapiens Q8TC20-4
Validated Y2H
32296183
Intra BFSP2 Q13515 CAGE1 Homo sapiens Q8TC20-4
Y2H Array
32296183
Intra BFSP2 Q13515 CAGE1 Homo sapiens Q8TC20-4
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 DRC12 Homo sapiens Q494R4-2
Validated Y2H
32296183
Intra BFSP2 Q13515 DRC12 Homo sapiens Q494R4-2
Y2H Array
32296183
Intra BFSP2 Q13515 DRC12 Homo sapiens Q494R4-2
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 USP54 Homo sapiens Q70EL1-9
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 USP54 Homo sapiens Q70EL1-9
Validated Y2H
32296183
Intra BFSP2 Q13515 USP54 Homo sapiens Q70EL1-9
Y2H Array
32296183
Intra BFSP2 Q13515 MCCD1 Homo sapiens P59942
Y2H Array
32296183
Intra BFSP2 Q13515 MCCD1 Homo sapiens P59942
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 DISC1 Homo sapiens Q9NRI5-2
Validated Y2H
32296183
Intra BFSP2 Q13515 DISC1 Homo sapiens Q9NRI5-2
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 DISC1 Homo sapiens Q9NRI5-2
Y2H Array
32296183
Intra BFSP2 Q13515 SNAPC5 Homo sapiens O75971-2
Y2H Array
32296183
Intra BFSP2 Q13515 SNAPC5 Homo sapiens O75971-2
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 POU6F2 Homo sapiens P78424
Y2H Array
32296183
Intra BFSP2 Q13515 POU6F2 Homo sapiens P78424
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 BFSP1 Homo sapiens Q12934-2
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 BFSP1 Homo sapiens Q12934-2
Y2H Array
32296183
Intra BFSP2 Q13515 RNASE10 Homo sapiens Q5GAN6
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 RNASE10 Homo sapiens Q5GAN6
Validated Y2H
32296183
Intra BFSP2 Q13515 RNASE10 Homo sapiens Q5GAN6
Y2H Array
32296183
Intra BFSP2 Q13515 ANKRD33 Homo sapiens Q7Z3H0-1
Y2H Array
32296183
Intra BFSP2 Q13515 ANKRD33 Homo sapiens Q7Z3H0-1
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 ANKRD33 Homo sapiens Q7Z3H0-1
Validated Y2H
32296183
Intra BFSP2 Q13515 CCDC183 Homo sapiens G5E9W6
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 CCDC183 Homo sapiens G5E9W6
Y2H Array
32296183
Intra BFSP2 Q13515 CDCA4 Homo sapiens Q9BXL8
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 CDCA4 Homo sapiens Q9BXL8
Validated Y2H
32296183
Intra BFSP2 Q13515 CDCA4 Homo sapiens Q9BXL8
Y2H Array
32296183
Intra BFSP2 Q13515 HAUS1 Homo sapiens Q96CS2
Validated Y2H
32296183
Intra BFSP2 Q13515 HAUS1 Homo sapiens Q96CS2
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 HAUS1 Homo sapiens Q96CS2
Y2H Array
32296183
Intra BFSP2 Q13515 SAPCD2 Homo sapiens Q86UD0
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 SAPCD2 Homo sapiens Q86UD0
Validated Y2H
32296183
Intra BFSP2 Q13515 SAPCD2 Homo sapiens Q86UD0
Y2H Array
32296183
Intra BFSP2 Q13515 C3orf62 Homo sapiens Q6ZUJ4
Validated Y2H
32296183
Intra BFSP2 Q13515 C3orf62 Homo sapiens Q6ZUJ4
Y2H Array
32296183
Intra BFSP2 Q13515 C3orf62 Homo sapiens Q6ZUJ4
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 KRT24 Homo sapiens Q2M2I5
Validated Y2H
32296183
Intra BFSP2 Q13515 KRT24 Homo sapiens Q2M2I5
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 KRT24 Homo sapiens Q2M2I5
Y2H Array
32296183
Intra BFSP2 Q13515 SNAPIN Homo sapiens O95295
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 SNAPIN Homo sapiens O95295
Y2H Array
32296183
Intra BFSP2 Q13515 KRT27 Homo sapiens Q7Z3Y8
Validated Y2H
32296183
Intra BFSP2 Q13515 KRT27 Homo sapiens Q7Z3Y8
Y2H Array
32296183
Intra BFSP2 Q13515 KRT27 Homo sapiens Q7Z3Y8
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 PBX2 Homo sapiens P40425
Y2H Array
32296183
Intra BFSP2 Q13515 PBX2 Homo sapiens P40425
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 PSMC5 Homo sapiens P62195
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 PSMC5 Homo sapiens P62195
Y2H Array
32296183
Intra BFSP2 Q13515 MYOG Homo sapiens P15173
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 MYOG Homo sapiens P15173
Y2H Array
32296183
Intra BFSP2 Q13515 DMAP1 Homo sapiens Q9NPF5
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 DMAP1 Homo sapiens Q9NPF5
Validated Y2H
32296183
Intra BFSP2 Q13515 DMAP1 Homo sapiens Q9NPF5
Y2H Array
32296183
Intra BFSP2 Q13515 ZNF620 Homo sapiens Q6ZNG0
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 ZNF620 Homo sapiens Q6ZNG0
Y2H Array
32296183
Intra BFSP2 Q13515 ZNF620 Homo sapiens Q6ZNG0
Validated Y2H
32296183
Intra BFSP2 Q13515 BLOC1S2 Homo sapiens Q6QNY1
Y2H Array
32296183
Intra BFSP2 Q13515 BLOC1S2 Homo sapiens Q6QNY1
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 BLOC1S2 Homo sapiens Q6QNY1
Validated Y2H
32296183
Intra BFSP2 Q13515 COPS6 Homo sapiens Q7L5N1
Y2H Array
32296183
Intra BFSP2 Q13515 COPS6 Homo sapiens Q7L5N1
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 COPS6 Homo sapiens Q7L5N1
Validated Y2H
32296183
Intra BFSP2 Q13515 TRIB3 Homo sapiens Q96RU7
Validated Y2H
32296183
Intra BFSP2 Q13515 TRIB3 Homo sapiens Q96RU7
Y2H Array
32296183
Intra BFSP2 Q13515 TRIB3 Homo sapiens Q96RU7
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 ATF4 Homo sapiens P18848
Y2H Array
31515488
Intra BFSP2 Q13515 ATF4 Homo sapiens P18848
Y2H Prey Pooling
25416956
Intra BFSP2 Q13515 ATF4 Homo sapiens P18848
Y2H Array
25910212
Intra BFSP2 Q13515 ATF4 Homo sapiens P18848
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 ATF4 Homo sapiens P18848
Validated Y2H
25910212
Intra BFSP2 Q13515 ATF4 Homo sapiens P18848
Y2H Bait-Prey Pool
25910212
Intra BFSP2 Q13515 ATF4 Homo sapiens P18848
Y2H Array
32296183
Intra BFSP2 Q13515 ATF4 Homo sapiens P18848
Validated Y2H
25416956
Intra BFSP2 Q13515 ATF4 Homo sapiens P18848
Y2H Array
29892012
Intra BFSP2 Q13515 OIP5 Homo sapiens O43482
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 OIP5 Homo sapiens O43482
Y2H Array
32296183
Intra BFSP2 Q13515 SYCE1 Homo sapiens Q8N0S2
Validated Y2H
32296183
Intra BFSP2 Q13515 SYCE1 Homo sapiens Q8N0S2
Y2H Array
25416956
Intra BFSP2 Q13515 SYCE1 Homo sapiens Q8N0S2
Y2H Array
32296183
Intra BFSP2 Q13515 SYCE1 Homo sapiens Q8N0S2
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 SYCE1 Homo sapiens Q8N0S2
Validated Y2H
25910212
Intra BFSP2 Q13515 SYCE1 Homo sapiens Q8N0S2
Y2H Bait-Prey Pool
25910212
Intra BFSP2 Q13515 SYCE1 Homo sapiens Q8N0S2
Y2H Array
25910212
Intra BFSP2 Q13515 CT55 Homo sapiens Q8WUE5
Y2H Array
32296183
Intra BFSP2 Q13515 CT55 Homo sapiens Q8WUE5
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 CT55 Homo sapiens Q8WUE5
Validated Y2H
32296183
Intra BFSP2 Q13515 KRT14 Homo sapiens P02533
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 KRT14 Homo sapiens P02533
Y2H Array
32296183
Intra BFSP2 Q13515 ECSIT Homo sapiens Q9BQ95
Validated Y2H
32296183
Intra BFSP2 Q13515 ECSIT Homo sapiens Q9BQ95
Y2H Array
32296183
Intra BFSP2 Q13515 ECSIT Homo sapiens Q9BQ95
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 WASHC3 Homo sapiens Q9Y3C0
Y2H Array
32296183
Intra BFSP2 Q13515 WASHC3 Homo sapiens Q9Y3C0
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 WASHC3 Homo sapiens Q9Y3C0
Validated Y2H
32296183
Intra BFSP2 Q13515 RINT1 Homo sapiens Q6NUQ1
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 RINT1 Homo sapiens Q6NUQ1
Validated Y2H
32296183
Intra BFSP2 Q13515 RINT1 Homo sapiens Q6NUQ1
Y2H Array
32296183
Intra BFSP2 Q13515 USHBP1 Homo sapiens Q8N6Y0
Y2H Bait-Prey Pool
25910212
Intra BFSP2 Q13515 USHBP1 Homo sapiens Q8N6Y0
Y2H Array
32296183
Intra BFSP2 Q13515 USHBP1 Homo sapiens Q8N6Y0
Validated Y2H
25910212
Intra BFSP2 Q13515 USHBP1 Homo sapiens Q8N6Y0
Y2H Array
25910212
Intra BFSP2 Q13515 USHBP1 Homo sapiens Q8N6Y0
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 USHBP1 Homo sapiens Q8N6Y0
Validated Y2H
32296183
Intra BFSP2 Q13515 HGS Homo sapiens O14964
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 HGS Homo sapiens O14964
Y2H Array
32296183
Intra BFSP2 Q13515 SUFU Homo sapiens Q9UMX1
Validated Y2H
32296183
Intra BFSP2 Q13515 SUFU Homo sapiens Q9UMX1
Anti Tag CoIP
33961781
Intra BFSP2 Q13515 SUFU Homo sapiens Q9UMX1
Anti Tag CoIP
28514442
Intra BFSP2 Q13515 BEX3 Homo sapiens Q00994
Y2H Array
32296183
Intra BFSP2 Q13515 BEX3 Homo sapiens Q00994
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 ABI3 Homo sapiens Q9P2A4
Validated Y2H
32296183
Intra BFSP2 Q13515 ABI3 Homo sapiens Q9P2A4
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 ABI3 Homo sapiens Q9P2A4
Y2H Array
32296183
Intra BFSP2 Q13515 CEP44 Homo sapiens Q9C0F1
Anti Tag CoIP
33961781
Intra BFSP2 Q13515 CEP44 Homo sapiens Q9C0F1
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 CEP44 Homo sapiens Q9C0F1
Validated Y2H
32296183
Intra BFSP2 Q13515 CEP44 Homo sapiens Q9C0F1
Y2H Array
32296183
Intra BFSP2 Q13515 AMOTL2 Homo sapiens Q9Y2J4
Y2H Array
32296183
Intra BFSP2 Q13515 AMOTL2 Homo sapiens Q9Y2J4
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 AMOTL2 Homo sapiens Q9Y2J4
Validated Y2H
32296183
Intra BFSP2 Q13515 SERTAD3 Homo sapiens Q9UJW9
Validated Y2H
32296183
Intra BFSP2 Q13515 SERTAD3 Homo sapiens Q9UJW9
Y2H Array
32296183
Intra BFSP2 Q13515 SERTAD3 Homo sapiens Q9UJW9
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 CALCOCO1 Homo sapiens Q9P1Z2
Validated Y2H
32296183
Intra BFSP2 Q13515 CALCOCO1 Homo sapiens Q9P1Z2
Y2H Array
32296183
Intra BFSP2 Q13515 CALCOCO1 Homo sapiens Q9P1Z2
Anti Tag CoIP
33961781
Intra BFSP2 Q13515 CALCOCO1 Homo sapiens Q9P1Z2
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
32296183
Intra BFSP2 Q13515 KRT31 Homo sapiens Q15323
Validated Y2H
32296183
Intra BFSP2 Q13515 KRT31 Homo sapiens Q15323
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cataract 12, Multiple Types

CTRCT12

Cataract 12 Multiple Types

Cataract, Type 12, Multiple Types

Early-Onset Lamellar Cataract
Early-Onset Sutural Cataract

Early-Onset Cataract With Y-Shaped Suture Opacities

Cataract 30, Multiple Types

CTRCT30

Cataract 30, Pulverulent

Pulverulent Cataract

Coppock-Like Cataract

Dusty Cataract

Pulverulent Cataract 30

Cataract 30

Cataract, Pulverulent

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Kahrizi Syndrome

KHRZ

Mental Retardation, Cataract, Coloboma, And Kyphosis, Autosomal Recessive

Intellectual Disability, Kahrizi Type

Intellectual Disability-Cataract-Coloboma-Kyphosis Syndrome

Epidermolysis Bullosa Simplex

Ebs

Epidermolysis Bullosa Intraepidermic

Epidermolytic Epidermolysis Bullosa

Eye Accommodation Disease
Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age

Epidermolysis Bullosa Simplex Localized Type

Epidermolysis Bullosa Simplex, Weber-Cockayne Type

Weber-Cockayne Syndrome

Ebs-Loc

Epidermolysis Bullosa Simplex Of Palms And Soles

Epidermolysis Bullosa Simplex Weber-Cockayne Type

Epidermolysis Bullosa Simplex, Localized

Epidermolysis Bullosa Of Hands And Feet

Weber-Cockayne Type Epidermolysis Bullosa Simplex

Localized Epidermolysis Bullosa Simplex

Localized Ebs

Corneal Dystrophy, Avellino Type

Avellino Corneal Dystrophy

CDA

Combined Granular-Lattice Corneal Dystrophy

Cgd2

Granular Corneal Dystrophy Type 2

Acd

Granular Corneal Dystrophy 2

Corneal Dystrophy Avellino Type

Granular Corneal Dystrophy Type Ii

Granular Corneal Dystrophy, Type Ii

Combined Granular-Lattice Corneal Dystrophies

Granular And Lattice Corneal Dystrophies

Granular-Lattice Corneal Dystrophy

Gcd2

Gcdii

Granular-Lattice Corneal Dystrophy

Posterior Polar Cataract

Cataract, Posterior Polar

Nance-Horan Syndrome

NHS

Cataract-Dental Syndrome

Cataract, X-Linked, With Hutchinsonian Teeth

Mesiodens-Cataract Syndrome

Cataract X-Linked With Hutchinsonian Teeth

Cataract Dental Syndrome

Mesiodens Cataract Syndrome

Cataract 31, Multiple Types

Cataract, Posterior Polar, 3

Ctpp3

Cataract 31 Multiple Types

CTRCT31

Cpp3

Posterior Polar Cataract 3

Cataract, Type 31, Multiple Types

Granular Corneal Dystrophy

Granular Dystrophy Corneal

Corneal Dystrophies, Hereditary

Hereditary Corneal Dystrophy

Corneal Dystrophy Nos

Familial Hereditary Corneal Degeneration

Hereditary Corneal Opacity

Ayme-Gripp Syndrome

AYGRP

Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation

Aymé-Gripp Syndrome

Fine-Lubinsky Syndrome

Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome

Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome

Galactosemia Ii

Galactokinase Deficiency

Galk Deficiency

Galactokinase Deficiency With Cataracts

Deficiency Of Galactokinase

GALAC2

Galk-D

Galactokinase Deficiency Galactosemia

Galactosemia 2

Galactosemia Type 2

Hereditary Galactokinase Deficiency

Galactokinase Deficiency, Cataract

Galactosemias

Galk - [Galactokinase Deficiency]

Axenfeld-Rieger Syndrome, Type 3

Axenfeld-Rieger Syndrome Type 3

RIEG3

Anterior Chamber Cleavage Syndrome

Anterior Segment Mesenchymal Dysgenesis

Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss

Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss

Rieger Syndrome Type 3

Axenfeld-Rieger Anomaly

Rieger Syndrome, Type 3

Axenfeld-Rieger Syndrome 3

Axenfeld Anomaly

Rieger Anomaly

Rieger Syndrome

Rieger Eye Malformation Sequence

Senile Cataract
Cryptosporidiosis

Cryptosporidial Gastroenteritis

Intestinal Cryptosporidiosis

Infection By Cryptosporidium

Gastroenteritis Due To Cryptosporidium

Cryptosporidial Infection

Amblyopia

Lazy Eye

Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Lens Disease

Lens Diseases

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

Cardiomyopathy, Dilated, 1a

Dilated Cardiomyopathy 1a

Cdcd1

CMD1A

Cardiomyopathy, Familial Idiopathic

Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

Cardiomyopathy, Dilated, With Conduction Defect 1

Cardiomyopathy, Idiopathic Dilated

Cardiomyopathy, Congestive

Dilated Cardiomyopathy With Conduction Defect 1

Cardiomyopathy Dilated With Conduction Defect Type 1

Cardiomyopathy, Dilated 1a

Cardiomyopathy Dilated With Conduction Defect 1

Cardiomyopathy, Dilated, Type 1a

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta BFSP2 VGNC VGNC:70245
Bos taurus BFSP2 VGNC VGNC:26479
Rattus norvegicus BFSP2 RGD RGD:1591927
Canis familiaris BFSP2 VGNC VGNC:38441
Mus musculus BFSP2 MGD MGI:1333828
Felis catus BFSP2 VGNC VGNC:60108