Afdn MGI Mouse Gene Detail - MGI:1314653 - afadin, adherens junction formation factor

Afdn Gene Detail

Symbol

Afdn
Name

afadin, adherens junction formation factor
Synonyms

5033403D15Rik, AF6, Afadin, I-afadin, Mllt4, S-afadin

Feature Type

protein coding gene
IDs

MGI:1314653
NCBI Gene: 17356
Gene Overview

MyGene.info: AFDN

Sequence Map

Chr17:13760539-13906150 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

145612 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 8.95 cM, cytoband A2
Mapping Data

4 experiments

Human Ortholog

AFDN, afadin, adherens junction formation factor

Vertebrate Orthologs

10

Human Ortholog

AFDN, afadin, adherens junction formation factor
Orthology source: HomoloGene, HGNC
Synonyms

AF6, l-afadin, MLL-AF6, MLLT4
Links

HGNC:7137

NCBI Gene ID: 4301

neXtProt AC: NX_P55196

UniProt: P55196
Chr Location

6q27; chr6:167826872-167972023 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 21202
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: AFDN
Gene Tree

Afdn

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Phenotype Summary

37 phenotypes from 5 alleles in 5 genetic backgrounds
21 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

33
Gene trapped

26
Targeted

7
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

45 strains or lines available

Homozygous null mice display embryonic lethality, abnormal ectoderm development including disrupted cell junctions, and absence of the somites, notochord, allantois, and neural folds.

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All GO Annotations

33
GO References

17

External Resources

FuncBase

Molecular Function

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

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	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

47
Tissues

40
cDNA Data

20
Literature Summary

30

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA AFDN

Xenbase afdn

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Afdn interacts with 360 markers (Mir1a-1, Mir1a-2, Mir9-1, ...) View All

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All Sequences

124
RefSeq

41
UniProt

8
CCDS

CCDS49955.1

			Length	Strain/Species	Flank
genomic	OTTMUSG00000029503	VEGA Gene Model \| MGI Sequence Detail	145612	C57BL/6J	± kb
transcript	OTTMUST00000073198	VEGA \| MGI Sequence Detail	5684	Not Applicable
polypeptide	OTTMUSP00000037865	VEGA \| MGI Sequence Detail	1827	Not Applicable

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SNPs within 2kb

253 from dbSNP Build 142

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UniProt

8 Sequences
Protein Ontology

PR:000010453 afadin

(term hierarchy)
PDB

1WLN, 1WXA, 3AXA
InterPro Domains

IPR028842 Afadin

IPR002710 Dilute domain

IPR000253 Forkhead-associated (FHA) domain

IPR001478 PDZ domain

IPR000159 Ras-associating (RA) domain

IPR008984 SMAD/FHA domain

IPR029071 Ubiquitin-related domain

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All nucleic 26

Genomic 2

cDNA 23

Other 1

Microarray probesets 6

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MGI:2685160

Summaries

All 90

Developmental Gene Expression 30

Gene Ontology 17

Phenotypes 21
Earliest

J:49560 Hock B, et al., PDZ-domain-mediated interaction of the Eph-related receptor tyrosine kinase EphB3 and the ras-binding protein AF6 depends on the kinase activity of the receptor. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):9779-84
Latest

J:241040 Shah B, et al., Rap1 GTPases Are Master Regulators of Neural Cell Polarity in the Developing Neocortex. Cereb Cortex. 2017 Feb 01;27(2):1253-1269

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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