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Nherf2 Gene Detail
Summary
  • Symbol
    Nherf2
  • Name
    NHERF family PDZ scaffold protein 2
  • Synonyms
    0610011L07Rik, 1200011K07Rik, 2010007A20Rik, E3karp, Nherf2, Octs2, Sip1, Sip-1, Slc9a3r2, Sryip1, Tka-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890662
    NCBI Gene: 65962
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:24858255-24869279 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 17, 12.43 cM, cytoband A3.3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    62 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890662
protein coding gene Chr17:24858255-24869301 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023310
protein coding gene Chr17:23634746-23647243 (-)
A/J MGP_AJ_G0023270
protein coding gene Chr17:22997084-23007978 (-)
AKR/J MGP_AKRJ_G0023237
protein coding gene Chr17:23078563-23089832 (-)
BALB/cJ MGP_BALBcJ_G0023275
protein coding gene Chr17:23183926-23194818 (-)
C3H/HeJ MGP_C3HHeJ_G0023035
protein coding gene Chr17:23437151-23449537 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023719
protein coding gene Chr17:24687807-24700681 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021194
protein coding gene Chr17:20469971-20480838 (-)
CAST/EiJ MGP_CASTEiJ_G0022537
protein coding gene Chr17:23286703-23299121 (-)
CBA/J MGP_CBAJ_G0023011
protein coding gene Chr17:25532062-25542934 (-)
DBA/2J MGP_DBA2J_G0023140
protein coding gene Chr17:22587261-22598171 (-)
FVB/NJ MGP_FVBNJ_G0023110
protein coding gene Chr17:22311011-22321989 (-)
LP/J MGP_LPJ_G0023217
protein coding gene Chr17:23950188-23961090 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023129
protein coding gene Chr17:25238629-25250775 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023756
protein coding gene Chr17:23353785-23366128 (-)
PWK/PhJ MGP_PWKPhJ_G0022286
protein coding gene Chr17:21334773-21346063 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022104
protein coding gene Chr17:21396315-21409075 (-)
WSB/EiJ MGP_WSBEiJ_G0022600
protein coding gene Chr17:23423907-23434901 (-)



Homology
more
  • Human Ortholog
    NHERF2, NHERF family PDZ scaffold protein 2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NHERF2, NHERF family PDZ scaffold protein 2
  • Synonyms
    E3KARP, NHE3RF2, NHERF-2, OCTS2, SIP1, SIP-1, SLC9A3R2, TKA-1
  • Links
    NCBI Gene ID: 9351
    neXtProt AC: NX_Q15599
    UniProt: Q15599

  • Chr Location
    16p13.3; chr16:2025356-2039026 (+)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    22 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele are viable, fertile and overtly normal and display normal cAMP- and cGMP-activated CFTR transepithelial chloride transport and bicarbonate secretion in the small intestine.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 65962 NCBI Gene Model | MGI Sequence Detail 11025 C57BL/6J ±  kb
    transcript NM_023055 RefSeq | MGI Sequence Detail 2118 C57BL/6  
    polypeptide Q9JHL1 UniProt | EBI | MGI Sequence Detail 337 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 69
      cDNA 69

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1915060, MGI:1915601, MGI:1923770, MGI:2178113
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 4
      Gene Ontology 9
      Phenotypes 22
    • Earliest
      J:75423 Zhang J, et al., In vitro binding and expression studies demonstrate a role for the mouse Sry Q-rich domain in sex determination. Int J Dev Biol. 1999 May;43(3):219-27
    • Latest
      J:325730 Ahuja N, et al., Endothelial Cyp26b1 restrains murine heart valve growth during development. Dev Biol. 2022 Jun;486:81-95

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory