EGFLAM - EGF like, fibronectin type III and laminin G domains Gene

Also Known as PIKA; AGRNL; AGRINL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 133584

About EGFLAM

Cytogenetic location: 5p13.2-p13.1 Genomic coordinates (GRCh38): 5:38,258,559-38,465,480 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues and 27 paralogues. Broad expression in placenta (RPKM 12.2), fat (RPKM 7.7) and 17 other tissues.

Summary

Predicted to enable calcium ion binding activity and glycosaminoglycan binding activity. Predicted to be involved in animal organ morphogenesis and tissue development. Predicted to act upstream of or within extracellular matrix organization; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; and positive regulation of cell-substrate adhesion. Part of cell surface. [provided by Alliance of Genome Resources, Apr 2022]

EGFLAM Products (4)

mRNA Protein Name
NM_001205301.2 NP_001192230.1 pikachurin isoform 5 precursor
NM_152403.4 NP_689616.2 pikachurin isoform 1 precursor
NM_182798.3 NP_877950.1 pikachurin isoform 2
NM_182801.3 NP_877953.1 pikachurin isoform 4

EGFLAM Protein Structure

fn3

fn3: Fibronectin type III domain (37 - 126)

fn3

fn3: Fibronectin type III domain (144 - 228)

Laminin_G_1

Laminin_G_1: Laminin G domain (415 - 545)

EGF

EGF: EGF-like domain (569 - 600)

Laminin_G_2

Laminin_G_2: Laminin G domain (641 - 766)

Laminin_G_2

Laminin_G_2: Laminin G domain (868 - 993)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1017 a.a.
Protein Preferred Names Protein Names

pikachurin

  • EGF-like, fibronectin type-III and laminin G-like domain-containing protein

Related Diseases

Diseases Alias
Adiaspiromycosis
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A5

  • Mddga5

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fkrp-Related

Muscular Dystrophy-Dystroglycanopathy , Type B, 6
  • Muscular Dystrophy-Dystroglycanopathy Type B6

  • MDDGB6

  • Mdc1d

  • Muscular Dystrophy, Congenital, Type 1d

  • Congenital Muscular Dystrophy Type 1d

  • Dystrophy, Muscular, Dystroglycanopathy , Type B6

  • Muscular Dystrophy, Congenital, Large-Related

  • Congenital Muscular Dystrophy Large-Related

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6

  • Muscular Dystrophy Large-Related

Muscular Dystrophy-Dystroglycanopathy , Type B, 5
  • Mdc1c

  • Muscular Dystrophy-Dystroglycanopathy Type B5

  • MDDGB5

  • Muscular Dystrophy, Congenital, 1c

  • Muscular Dystrophy, Congenital, Fkrp-Related

  • Congenital Muscular Dystrophy 1c

  • Fkrp-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5

  • Muscular Dystrophy Congenital Type 1c

  • Muscular Dystrophy Fkrp-Related

Muscular Dystrophy-Dystroglycanopathy , Type B, 1
  • MDDGB1

  • Muscular Dystrophy-Dystroglycanopathy , Type B1

  • Muscular Dystrophy, Congenital, Pomt1-Related

  • Muscular Dystrophy-Dystroglycanopathy Type B1

  • Cmd Due To Dystroglycanopathy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1

  • Muscular Dystrophy Congenital Pomt1-Related

  • Muscular Dystrophy-Dystroglycanopathy

  • Dystrophy, Muscular, Dystroglycanopathy , Type B1

Congenital Muscular Dystrophy-Dystroglycanopathy Type A
  • Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies

  • Mddga

  • Klissencephaly Type 2 With Muscular And Ocular Involvement

  • Lissencephaly Type 2 With Muscular And Ocular Involvement

Muscular Dystrophy-Dystroglycanopathy , Type C, 1
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

  • Lgmd2k

  • MDDGC1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11

  • Lgmdr11

  • Muscular Dystrophy, Limb-Girdle, Type 2k

  • Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome

  • Limb-Girdle Muscular Dystrophy Type 2k

  • Muscular Dystrophy Limb-Girdle Type 2k

  • Muscular Dystrophy-Dystroglycanopathy Type C 1

  • Pomt1-Related Limb-Girdle Muscular Dystrophy R11

  • Lgmd Type 2k

  • Pomt1-Related Lgmd R11

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1

  • Dystrophy, Muscular, Limb-Girdle, Type 2k

  • Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1

Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1

  • Mddga1

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related

Muscular Dystrophy-Dystroglycanopathy , Type A, 4
  • Fukuyama Congenital Muscular Dystrophy

  • Fcmd

  • MDDGA4

  • Fukuyama Type Congenital Muscular Dystrophy

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related

  • Cerebromuscular Dystrophy, Fukuyama Type

  • Fukuyama Cmd

  • Fukuyama Muscular Dystrophy

  • Fukuyama Syndrome

  • Muscular Dystrophy, Congenital Progressive, With Mental Retardation

  • Muscular Dystrophy, Congenital, Fukuyama Type

  • Muscular Dystrophy, Congenital, With Central Nervous System Involvement

  • Polymicrogyria With Muscular Dystrophy

  • Congenital Muscular Dystrophy, Fukuyama Type

  • Fktn-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4

  • Cerebromuscular Dystrophy Fukuyama Type

  • Congenital Muscular Dystrophy Fukuyama Type

  • Micropolygyria With Muscular Dystrophy

  • Muscle-Eye-Brain Disease Fktn-Related

  • Walker-Warburg Syndrome Fktn-Related

Retinitis Pigmentosa 19
  • RP19

  • Retinitis Pigmentosa-19

  • Retinitis Pigmentosa, Type 19

Walker-Warburg Syndrome
  • Hard Syndrome

  • Walker-Warburg Congenital Muscular Dystrophy

  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

  • Cod-Md Syndrome

  • Chemke Syndrome

  • Hydrocephalus, Agyria And Retinal Dysplasia

  • Cerebroocular Dysgenesis

  • Cerebroocular Dysplasia Muscular Dystrophy Syndrome

  • Hard +/- E Syndrome

  • Pagon Syndrome

  • Warburg Syndrome

  • Hydrocephalus, Agyria, And Retinal Dysplasia

  • Mddga

  • Muscular Dystrophy-Dystroglycanopathy , Type A

  • Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

  • Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

  • Wws

  • Dystrophy, Muscular, Dystroglycanopathy, Type A

Retinitis Pigmentosa 25
  • RP25

  • Retinitis Pigmentosa-25

  • Retinitis Pigmentosa, Type 25

Usher Syndrome Type 2
  • Ush2

  • Usher Syndrome Type Ii

Usher Syndrome, Type I
  • USH1

  • Usher Syndrome Type 1

  • Us1

  • Usher Syndrome, Type 1b

  • Usher Syndrome Type 1e

  • Retinitis Pigmentosa And Congenital Deafness

  • Usher Syndrome, Type Ie

  • USH1E

  • Usher Syndrome, Type 1e

  • Usher Syndrome, Type 1a

  • Usher Syndrome, Type Ib

  • Usher Syndrome Type 1b

  • Usher Syndrome Type Ie

  • Usher Syndrome Type I

  • Usher 1

  • Usher Syndrome, Type 1

  • Ush1a

  • Usher Syndrome, Type I, French Variety

  • Usher Syndrome, Type Ia

  • Usher Syndrome 1b

  • USH1B

  • Usher'S Syndrome Type 1b

  • Usher Syndrome Type Ib

  • Ushib

Autosomal Recessive Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Congenital Stationary Night Blindness
  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital

Usher Syndrome
  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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
Bos taurus EGFLAM VGNC VGNC:55044
Canis familiaris EGFLAM VGNC VGNC:40239
Felis catus EGFLAM VGNC VGNC:61758
Macaca mulatta EGFLAM VGNC VGNC:72122
Rattus norvegicus EGFLAM RGD RGD:1306592
Mus musculus EGFLAM MGD MGI:2146149
Others EGFLAM NCBI