Aftph MGI Mouse Gene Detail - MGI:1923012

Symbol

Aftph
Name

aftiphilin
Synonyms

9130023F12Rik

Feature Type

protein coding gene
IDs

MGI:1923012
NCBI Gene: 216549
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr11:20635084-20691589 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 13.25 cM
Mapping Data

2 experiments

SNPs within 2kb

189 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923012	protein coding gene	Chr11:20635084-20691599 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018068	protein coding gene	Chr11:18237380-18297708 (-)
A/J	MGP_AJ_G0018041	protein coding gene	Chr11:17606302-17662478 (-)
AKR/J	MGP_AKRJ_G0018005	protein coding gene	Chr11:18237986-18295799 (-)
BALB/cJ	MGP_BALBcJ_G0018009	protein coding gene	Chr11:17727529-17784393 (-)
C3H/HeJ	MGP_C3HHeJ_G0017823	protein coding gene	Chr11:18129537-18188361 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018461	protein coding gene	Chr11:19074022-19138209 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016119	protein coding gene	Chr11:16579575-16637703 (-)
CAST/EiJ	MGP_CASTEiJ_G0017384	protein coding gene	Chr11:18102555-18162808 (-)
CBA/J	MGP_CBAJ_G0017797	protein coding gene	Chr11:19897436-19961235 (-)
DBA/2J	MGP_DBA2J_G0017907	protein coding gene	Chr11:17559616-17616191 (-)
FVB/NJ	MGP_FVBNJ_G0017899	protein coding gene	Chr11:17302908-17360853 (-)
LP/J	MGP_LPJ_G0017978	protein coding gene	Chr11:18399055-18457424 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017925	protein coding gene	Chr11:20325170-20386526 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018502	protein coding gene	Chr11:18308782-18365817 (-)
PWK/PhJ	MGP_PWKPhJ_G0017164	protein coding gene	Chr11:17576751-17633989 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016962	protein coding gene	Chr11:18051078-18111799 (-)
WSB/EiJ	MGP_WSBEiJ_G0017438	protein coding gene	Chr11:17960487-18020399 (-)

Human Ortholog

AFTPH, aftiphilin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AFTPH, aftiphilin
Synonyms

Nbla10388
Links

HGNC:25951

NCBI Gene ID: 54812

neXtProt AC: NX_Q6ULP2

UniProt: Q6ULP2
Chr Location

2p14; chr2:64524299-64593005 (+) GRCh38

MGI Vertebrate Homology

Aftph stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: AFTPH
Gene Tree

Aftph

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
12 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

10
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

5
Targeted

3
Genomic Mutations

1 involving Aftph
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

35 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

14
GO References

5

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.

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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

706
cDNA Data

25

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase aftph

ZFIN aftphb

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All Sequences

77
RefSeq

8
UniProt

7
CCDS

CCDS24459.1, CCDS56761.1, CCDS70146.1

Ensembl

ENSMUSG00000049659 (Evidence)
NCBI Gene

216549

			Length	Strain/Species	Flank
genomic	ENSMUSG00000049659	Ensembl Gene Model \| MGI Sequence Detail	56506	C57BL/6J	± kb
transcript	ENSMUST00000146722	Ensembl \| MGI Sequence Detail	3763	Not Applicable
polypeptide	ENSMUSP00000121612	Ensembl \| MGI Sequence Detail	931	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000003810 aftiphilin

(term hierarchy)
InterPro Domains

IPR029205 Aftiphilin, clathrin-binding box

IPR046359 Aftiphilin-like

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All nucleic 25

cDNA 25

Microarray probesets 6

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MGI:2144368, MGI:2144378, MGI:2144382, MGI:2144387, MGI:2144439

Summaries

All 39

Gene Ontology 5

Phenotypes 12
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

TSS for Aftph:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr107044	Chr11:20692004-20692015 (-)	-421 bp
Tssr107043	Chr11:20691981-20691992 (-)	-398 bp
Tssr107042	Chr11:20691933-20691944 (-)	-350 bp
Tssr107041	Chr11:20691847-20691908 (-)	-289 bp
Tssr107040	Chr11:20691580-20691622 (-)	-12 bp
Tssr107039	Chr11:20691447-20691524 (-)	103 bp
Tssr107038	Chr11:20691354-20691365 (-)	229 bp
Tssr107037	Chr11:20662256-20662329 (-)	29,296 bp
Tssr107036	Chr11:20662242-20662247 (-)	29,344 bp
Tssr107035	Chr11:20662220-20662238 (-)	29,360 bp
Tssr107034	Chr11:20650847-20650851 (-)	40,740 bp
Tssr107033	Chr11:20649581-20649594 (-)	42,001 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 04/16/2024 MGI 6.23