Sequence Browser (Q99435-1)

UniProt (Ref Seq)
Displayed Structure
Experimental Tertiary/Complex (PDB:XRay/EM)
Experimental Tertiary/Complex (PDB:NMR)
Modelled Tertiary (Phyre)
If the whole structure is coloured grey in '3D Structure Viewer' panel, please click the icon - on the top left corner of the viewer.
(If nothing changes then 'Sequence ↔ Structure' mapping may be unavailable).
1
816
Isoform
Remark
Ref
Q99435-1  
No experimental confirmation available.
VSP_043801
No experimental confirmation available.
VSP_043802
VSP_043869
Click on Isoform of interest to be redirected to the corresponding page
Type
Variation
Position
splice variant
MESRVLLRTFCLIFGLGA → METGLGAPLFKAWLLIS
1 - 18
splice variant
M → MGFPPLLKGQASATRSSLASCSWVVFFLSCLSRHAPEIEGGRRWTELIRTM
1
sequence variant
N → D
347
sequence conflict
S → P
353
sequence conflict
N → D
489
splice variant
M → MSIRRLLILILKIGRRWTELIRTM
1
sequence variant
V → I
5
sequence variant
P → L
631
sequence conflict
N → D
454
sequence conflict
C → S
636

To analyse the structural impact of your missense variant:

  • Select the corresponding experimental/modelled structure from the "Available Structures" Panel.
  • Right-click on the target structure and download it.
  • Go to our web server Missense3D to analyse structural impact.

  • Go to Missense3D
Protein:
Other Names:
NEL-like protein 2, Nel-related protein 2
Primary Accession:
Other Accessions:
B7Z2U7, B7Z5Q4, B7Z9J5, B7Z9U3, Q96JS2
Gene :
NELL2*, synonyms (NRP2)
Organism :
Human
Entry Name :
Length :
816
Mass (Da) :
91,346
Last modified :
01-Jan-1997
Version :
v1
Isoforms :
4 
Variants :
10 
Interactions :
2 
Structures :
Experimental 0 | Phyre prediction 8

Required for neuron survival through the modulation of MAPK pathways (By similarity). Involved in the regulation of hypothalamic GNRH secretion and the control of puberty (By similarity).

With
Entry
IntAct
Exp
ROBO3
Q96MS0
EBI-16185191, EBI-1220465
3
GFI1B
Q5VTD9
EBI-946274, EBI-946212
2