Pfn4 MGI Mouse Gene Detail - MGI:1920121 - profilin family, member 4

Symbol

Pfn4
Name

profilin family, member 4
Synonyms

2900024P18Rik

Feature Type

protein coding gene
IDs

MGI:1920121
NCBI Gene: 382562
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr12:4819022-4828813 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 2.09 cM, cytoband A1.1
Mapping Data

2 experiments

SNPs within 2kb

72 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1920121	protein coding gene	Chr12:4819010-4828813 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019573	protein coding gene	Chr12:1679778-1688791 (+)
A/J	MGP_AJ_G0019540	protein coding gene	Chr12:1655845-1664773 (+)
AKR/J	MGP_AKRJ_G0019510	protein coding gene	Chr12:1847760-1856460 (+)
BALB/cJ	MGP_BALBcJ_G0019515	protein coding gene	Chr12:1692997-1701967 (+)
C3H/HeJ	MGP_C3HHeJ_G0019321	protein coding gene	Chr12:1623097-1632115 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019964	protein coding gene	Chr12:1709888-1718820 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017589	protein coding gene	Chr12:1570617-1579736 (+)
CAST/EiJ	MGP_CASTEiJ_G0018876	protein coding gene	Chr12:1705484-1714323 (+)
CBA/J	MGP_CBAJ_G0019292	protein coding gene	Chr12:2041436-2050454 (+)
DBA/2J	MGP_DBA2J_G0019405	protein coding gene	Chr12:1589352-1598362 (+)
FVB/NJ	MGP_FVBNJ_G0019396	protein coding gene	Chr12:1600954-1609961 (+)
LP/J	MGP_LPJ_G0019476	protein coding gene	Chr12:1694781-1703706 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019429	protein coding gene	Chr12:1779625-1788554 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020003	protein coding gene	Chr12:1652802-1661809 (+)
PWK/PhJ	MGP_PWKPhJ_G0018642	protein coding gene	Chr12:1646811-1656147 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018433	protein coding gene	Chr12:1692490-1698503 (+)
WSB/EiJ	MGP_WSBEiJ_G0018927	protein coding gene	Chr12:1648749-1657687 (+)

Human Ortholog

PFN4, profilin family member 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PFN4, profilin family member 4
Links

HGNC:31103

NCBI Gene ID: 375189

neXtProt AC: NX_Q8NHR9

UniProt: Q8NHR9
Chr Location

2p23.3; chr2:24114809-24123491 (-) GRCh38

MGI Vertebrate Homology

Pfn4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PFN4
Gene Tree

Pfn4

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Phenotype Summary

34 phenotypes from 3 alleles in 4 genetic backgrounds
7 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

7
Endonuclease-mediated

2
Targeted

5
Incidental Mutations

APF
Find Mice (IMSR)

18 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Nullizygous mutations of this gene cause male infertility, reduced sperm viability, sperm head shape and flagellar defects, asthenozoospermia and impaired spermiogenesis associated with defects in cis- and trans-Golgi networks, acrosome biogenesis, autophagy, manchette development and mitochondrial structure.

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All GO Annotations

9
GO References

3

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

719
Tissues

7
cDNA Data

12
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pfn4

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All Sequences

48
RefSeq

10
UniProt

3
CCDS

CCDS25790.1

Ensembl

ENSMUSG00000020639 (Evidence)
NCBI Gene

382562

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020639	Ensembl Gene Model \| MGI Sequence Detail	9792	C57BL/6J	± kb
transcript	ENSMUST00000020967	Ensembl \| MGI Sequence Detail	1306	Not Applicable
polypeptide	ENSMUSP00000020967	Ensembl \| MGI Sequence Detail	129	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000012588 profilin-4

(term hierarchy)
InterPro Domains

IPR048278 Profilin

IPR005455 Profilin, eukaryotic type

IPR036140 Profilin superfamily

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All nucleic 12

cDNA 12

Microarray probesets 2

Summaries

All 27

Developmental Gene Expression 1

Gene Ontology 3

Phenotypes 7
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:328252 Umer N, et al., PFN4 is required for manchette development and acrosome biogenesis during mouse spermiogenesis. Development. 2022 Aug 15;149(16):dev200499

TSS for Pfn4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr3768	Chr12:4819100-4819107 (+)	82 bp
Tssr112578	Chr12:4819118-4819125 (+)	100 bp
Tssr112579	Chr12:4819127-4819138 (+)	111 bp
Tssr112580	Chr12:4819151-4819165 (+)	136 bp
Tssr112581	Chr12:4819278-4819338 (+)	286 bp
Tssr112582	Chr12:4819340-4819360 (+)	328 bp
Tssr112583	Chr12:4819375-4819386 (+)	359 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)
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