Nherf2 MGI Mouse Gene Detail - MGI:1890662 - NHERF family PDZ scaffold protein 2

Symbol

Nherf2
Name

NHERF family PDZ scaffold protein 2
Synonyms

0610011L07Rik, 1200011K07Rik, 2010007A20Rik, E3karp, Nherf2, Octs2, Sip-1, Sip1, Slc9a3r2, Sryip1, Tka-1

Feature Type

protein coding gene
IDs

MGI:1890662
NCBI Gene: 65962
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr17:24858255-24869279 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 12.43 cM, cytoband A3.3
Mapping Data

2 experiments

SNPs within 2kb

271 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (-)

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, SIP-1, SIP1, SLC9A3R2, TKA-1
Links

HGNC:11076

NCBI Gene ID: 9351

neXtProt AC: NX_Q15599

UniProt: Q15599
Chr Location

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

MGI Vertebrate Homology

Nherf2 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: NHERF2
Protein SuperFamily

EBP50
Gene Tree

Nherf2

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Phenotype Summary

6 phenotypes from 2 alleles in 2 genetic backgrounds
2 phenotypes from multigenic genotypes
23 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

12
Endonuclease-mediated

1
Gene trapped

9
Targeted

2
Incidental Mutations

CvDC
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

30
GO References

10

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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

715
Tissues

5
cDNA Data

69
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA SLC9A3R2

Xenbase nherf2

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All Sequences

63
RefSeq

8
UniProt

6
CCDS

CCDS28488.1, CCDS28489.1, CCDS89012.1

Ensembl

ENSMUSG00000002504 (Evidence)
NCBI Gene

65962

			Length	Strain/Species	Flank
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

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UniProt

6 Sequences
Protein Ontology

PR:000015215 Na(+)/H(+) exchange regulatory cofactor NHE-RF2

(term hierarchy)
InterPro Domains

IPR015098 EBP50, C-terminal

IPR051067 Na+/H+ exchange regulatory cofactor

IPR017300 Na(+)/H(+) exchange regulatory cofactor NHERF-1/2

IPR001478 PDZ domain

IPR036034 PDZ superfamily
GlyGen

Q9JHL1 1 site, 1 O-linked glycan (1 site)

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All nucleic 69

cDNA 69

Microarray probesets 8

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MGI:1915060, MGI:1915601, MGI:1923770, MGI:2178113, MGI:7388570

Summaries

All 66

Developmental Gene Expression 5

Gene Ontology 10

Phenotypes 23
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Nherf2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr146758	Chr17:24869244-24869285 (-)	14 bp
Tssr146757	Chr17:24866749-24866820 (-)	2,494 bp
Tssr146756	Chr17:24863993-24864002 (-)	5,281 bp
Tssr146755	Chr17:24863956-24863968 (-)	5,317 bp
Tssr146754	Chr17:24863907-24863950 (-)	5,350 bp
Tssr146753	Chr17:24859676-24859710 (-)	9,586 bp

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24