Scfd2 MGI Mouse Gene Detail - MGI:2443446 - Sec1 family domain containing 2

Symbol

Scfd2
Name

Sec1 family domain containing 2
Synonyms

E430013M20Rik, STXBP1L1

Feature Type

protein coding gene
IDs

MGI:2443446
NCBI Gene: 212986
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr5:74365477-74692420 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 39.44 cM
Mapping Data

1 experiment

SNPs within 2kb

2669 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2443446	protein coding gene	Chr5:74365477-74692436 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0029632	protein coding gene	Chr5:74271904-74620306 (-)
A/J	MGP_AJ_G0029600	protein coding gene	Chr5:71463022-71788202 (-)
AKR/J	MGP_AKRJ_G0029548	protein coding gene	Chr5:73795225-74137414 (-)
BALB/cJ	MGP_BALBcJ_G0029609	protein coding gene	Chr5:72175672-72500417 (-)
C3H/HeJ	MGP_C3HHeJ_G0029332	protein coding gene	Chr5:74179077-74517576 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0030063	protein coding gene	Chr5:77309154-77641513 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027303	protein coding gene	Chr5:67130243-67453575 (-)
CAST/EiJ	MGP_CASTEiJ_G0028740	protein coding gene	Chr5:73274955-73610763 (-)
CBA/J	MGP_CBAJ_G0029301	protein coding gene	Chr5:79830703-80217814 (-)
DBA/2J	MGP_DBA2J_G0029446	protein coding gene	Chr5:71532843-71867771 (-)
FVB/NJ	MGP_FVBNJ_G0029407	protein coding gene	Chr5:70687666-71021129 (-)
LP/J	MGP_LPJ_G0029532	protein coding gene	Chr5:74700604-75054977 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029434	protein coding gene	Chr5:83095744-83443561 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030096	protein coding gene	Chr5:73326872-73659060 (-)
PWK/PhJ	MGP_PWKPhJ_G0028463	protein coding gene	Chr5:70513240-70837772 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0028298	protein coding gene	Chr5:72681916-73016839 (-)
WSB/EiJ	MGP_WSBEiJ_G0028820	protein coding gene	Chr5:73619380-73951653 (-)

Human Ortholog

SCFD2, sec1 family domain containing 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SCFD2, sec1 family domain containing 2
Synonyms

STXBP1L1
Links

HGNC:30676

NCBI Gene ID: 152579

neXtProt AC: NX_Q8WU76

UniProt: Q8WU76
Chr Location

4q12; chr4:52872982-53366066 (-) GRCh38

MGI Vertebrate Homology

Scfd2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SCFD2
Gene Tree

Scfd2

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References

1 with disease annotations

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
349 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

15
Chemically induced (other)

2
Endonuclease-mediated

1
Gene trapped

8
Radiation induced

1
Spontaneous

3
Genomic Mutations

6 involving Scfd2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

2
GO References

1

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

18

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase scfd2

ZFIN scfd2

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All Sequences

69
RefSeq

8
UniProt

5
CCDS

CCDS19345.1, CCDS51519.1, CCDS71603.1

Ensembl

ENSMUSG00000062110 (Evidence)
NCBI Gene

212986

			Length	Strain/Species	Flank
genomic	ENSMUSG00000062110	Ensembl Gene Model \| MGI Sequence Detail	326944	C57BL/6J	± kb
transcript	ENSMUST00000072857	Ensembl \| MGI Sequence Detail	3672	Not Applicable
polypeptide	ENSMUSP00000072636	Ensembl \| MGI Sequence Detail	684	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000014501 Sec1 family domain-containing protein 2

(term hierarchy)
InterPro Domains

IPR027482 Sec1-like, domain 2

IPR001619 Sec1-like protein

IPR036045 Sec1-like superfamily

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All nucleic 18

cDNA 18

Microarray probesets 5

Summaries

All 367

Diseases 1

Gene Ontology 1

Phenotypes 349
Earliest

J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
Latest

J:341974 Harper RL, et al., Mast cell activation and degranulation in acute artery injury: A target for post-operative therapy. FASEB J. 2023 Jul;37(7):e23029

TSS for Scfd2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr51385	Chr5:74692327-74692415 (-)	49 bp
Tssr51384	Chr5:74565756-74565793 (-)	126,645 bp
Tssr51383	Chr5:74556305-74556308 (-)	136,113 bp
Tssr51382	Chr5:74423371-74423383 (-)	269,043 bp
Tssr51381	Chr5:74423345-74423368 (-)	269,063 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 04/09/2024 MGI 6.23