Sftpd MGI Mouse Gene Detail - MGI:109515 - surfactant associated protein D

Symbol

Sftpd
Name

surfactant associated protein D
Synonyms

Sfpd, Sftp4, SP-D

Feature Type

protein coding gene
IDs

MGI:109515
NCBI Gene: 20390
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr14:40894171-40907106 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 22.36 cM
Mapping Data

5 experiments

SNPs within 2kb

441 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109515	protein coding gene	Chr14:40894169-40907155 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0021199	protein coding gene	Chr14:34804024-34817007 (-)
A/J	MGP_AJ_G0021147	protein coding gene	Chr14:33457745-33470730 (-)
AKR/J	MGP_AKRJ_G0021124	protein coding gene	Chr14:34825525-34838511 (-)
BALB/cJ	MGP_BALBcJ_G0021151	protein coding gene	Chr14:33674310-33687323 (-)
C3H/HeJ	MGP_C3HHeJ_G0020934	protein coding gene	Chr14:34785304-34799293 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0021583	protein coding gene	Chr14:36204673-36217626 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019145	protein coding gene	Chr14:33077411-33090564 (-)
CAST/EiJ	MGP_CASTEiJ_G0020459	protein coding gene	Chr14:34555946-34569001 (-)
CBA/J	MGP_CBAJ_G0020900	protein coding gene	Chr14:37436855-37449844 (-)
DBA/2J	MGP_DBA2J_G0021023	protein coding gene	Chr14:33416105-33429088 (-)
FVB/NJ	MGP_FVBNJ_G0021007	protein coding gene	Chr14:33355256-33368634 (-)
LP/J	MGP_LPJ_G0021092	protein coding gene	Chr14:35041440-35054426 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021033	protein coding gene	Chr14:37058197-37074577 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021616	protein coding gene	Chr14:34613153-34626198 (-)
PWK/PhJ	MGP_PWKPhJ_G0020207	protein coding gene	Chr14:32887448-32900848 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0020031	protein coding gene	Chr14:34235603-34248566 (-)
WSB/EiJ	MGP_WSBEiJ_G0020514	protein coding gene	Chr14:34725368-34738321 (-)

Human Ortholog

SFTPD, surfactant protein D

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SFTPD, surfactant protein D
Synonyms

COLEC7, PSP-D, SFTP4, SP-D
Links

HGNC:10803

NCBI Gene ID: 6441

neXtProt AC: NX_P35247

UniProt: P35247
Chr Location

10q22.3; chr10:79937467-79982614 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: SFTPD
Gene Tree

Sftpd

Diseases

9 with human SFTPD associations

				Human Disease	Mouse Models
				asthma IDs asthma DOID:2841 DOID:12703 DOID:13829 DOID:13830 DOID:2840 DOID:5783 ICD10CM:J45 ICD9CM:493 ICD9CM:493.9 KEGG:05310 MESH:D001249 NCI:C28397 OMIM:600807 UMLS_CUI:C0004096
				bronchopulmonary dysplasia IDs bronchopulmonary dysplasia DOID:11650 DOID:11651 ICD10CM:P27.1 MESH:D001997 NCI:C90599
				chronic obstructive pulmonary disease IDs chronic obstructive pulmonary disease DOID:3083 DOID:11500 DOID:6144 EFO:0000341 ICD10CM:J44.9 MESH:D029424 NCI:C3199 OMIM:606963 UMLS_CUI:C0024117
				lung disease IDs lung disease DOID:850 DOID:11894 DOID:11895 DOID:29 DOID:766 ICD10CM:J98.4 MESH:D008171 NCI:C3198 UMLS_CUI:C0024115
				lung non-small cell carcinoma IDs lung non-small cell carcinoma DOID:3908 EFO:0003060 KEGG:05223 MESH:D002289 NCI:C2926 UMLS_CUI:C0007131
				newborn respiratory distress syndrome IDs newborn respiratory distress syndrome DOID:12716 DOID:11395 DOID:13859 ICD10CM:P22.0 MESH:D006819 OMIM:267450 UMLS_CUI:C0020192
				pneumonia IDs pneumonia DOID:552 DOID:10509 DOID:11742 DOID:5871 MESH:D011014 NCI:C3333 UMLS_CUI:C0032285
				respiratory syncytial virus infectious disease IDs respiratory syncytial virus infectious disease DOID:1273 MESH:D018357 NCI:C3354 UMLS_CUI:C0035235
				rhinitis IDs rhinitis DOID:4483 MESH:D012220 NCI:C34986 UMLS_CUI:C0035455

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

29 phenotypes from 2 alleles in 2 genetic backgrounds
8 phenotypes from multigenic genotypes
3 images
73 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

8
Endonuclease-mediated

3
Targeted

5
Incidental Mutations

APF
Find Mice (IMSR)

17 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for targeted null mutations exhibit increased pool sizes of alveolar and tissue phosphatidylcholine, accumulation of surfactant lipids, altered phospholipid structure, emphysema, and pulmonary fibrosis and chronic inflammation.

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All GO Annotations

27
GO References

9

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

816
Tissues

14
cDNA Data

32
Literature Summary

59

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sftpd

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All Sequences

35
RefSeq

2
UniProt

1
CCDS

CCDS26962.1

Ensembl

ENSMUSG00000021795 (Evidence)
NCBI Gene

20390

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021795	Ensembl Gene Model \| MGI Sequence Detail	12936	C57BL/6J	± kb
transcript	ENSMUST00000077136	Ensembl \| MGI Sequence Detail	1275	Not Applicable
polypeptide	ENSMUSP00000076383	Ensembl \| MGI Sequence Detail	374	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000014775 pulmonary surfactant-associated protein D

(term hierarchy)
InterPro Domains

IPR050149 Collagen superfamily

IPR008160 Collagen triple helix repeat

IPR033990 Collectin, C-type lectin-like domain

IPR018378 C-type lectin, conserved site

IPR016187 C-type lectin fold

IPR001304 C-type lectin-like

IPR016186 C-type lectin-like/link domain superfamily

IPR015097 Lung surfactant protein D coiled-coil trimerisation
GlyGen

P50404 1 site, 1 N-linked glycan (1 site)

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All nucleic 46

Genomic 5

cDNA 33

Primer pair 6

Other 2

Microarray probesets 3

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MGD-MRK-16239, MGD-MRK-39514, MGI:2145671

Summaries

All 175

Developmental Gene Expression 59

Gene Ontology 9

Phenotypes 73
Earliest

J:13598 Wevrick R, et al., Mapping of the murine and rat Facc genes and assessment of flexed-tail as a candidate mouse homolog of Fanconi anemia group C. Mamm Genome. 1993;4(8):440-4
Latest

J:332515 Wan L, et al., Disruption of Cdyl gene impairs mouse lung epithelium differentiation and maturation. Gene. 2023 Feb 15;853:147088

TSS for Sftpd:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr128214	Chr14:40907162-40907169 (-)	-60 bp
Tssr128213	Chr14:40907145-40907156 (-)	-45 bp
Tssr128212	Chr14:40907115-40907128 (-)	-16 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 11/12/2024 MGI 6.24