C2CD4C (C2 calcium dependent domain containing 4C)

Gene: C2CD4C (C2 calcium dependent domain containing 4C) Homo sapiens

Analyze

Symbol:

C2CD4C

Name:

C2 calcium dependent domain containing 4C

RGD ID:

1351171

HGNC Page

HGNC:29417

Description:

Predicted to be active in cytosol.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C2 calcium-dependent domain containing 4C; C2 calcium-dependent domain-containing protein 4C; FAM148C; family with sequence similarity 148, member C; KIAA1957; NLF3; nuclear localized factor 3; nuclear-localized factor 3

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	405,445 - 409,147 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	405,445 - 409,147 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	405,445 - 409,147 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	356,443 - 364,234 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	405,821 - 409,548 (+)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	174,453 - 177,414 (-)	NCBI		HuRef
CHM1_1	19	403,286 - 407,013 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	353,898 - 357,600 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

4,4'-sulfonyldiphenol (EXP)

6-propyl-2-thiouracil (ISO)

acrylamide (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

bisphenol F (EXP)

chlorpyrifos (ISO)

dorsomorphin (EXP)

endosulfan (ISO)

ethylparaben (EXP)

fulvestrant (EXP)

gentamycin (ISO)

lipopolysaccharide (EXP)

mono(2-ethylhexyl) phthalate (ISO)

pentanal (EXP)

phenylmercury acetate (EXP)

potassium dichromate (ISO)

resveratrol (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

triptonide (ISO)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

cytosol (IEA,ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11853319	PMID:15527968	PMID:23251661	PMID:27880917	PMID:30631154	PMID:31871319	PMID:32877691	PMID:34079125	PMID:35844135

Genomics

Comparative Map Data

C2CD4C
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	405,445 - 409,147 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	405,445 - 409,147 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	405,445 - 409,147 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	356,443 - 364,234 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	405,821 - 409,548 (+)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	174,453 - 177,414 (-)	NCBI		HuRef
CHM1_1	19	403,286 - 407,013 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	353,898 - 357,600 (-)	NCBI		T2T-CHM13v2.0

C2cd4c
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	79,442,688 - 79,449,859 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	79,442,688 - 79,449,859 (-)	Ensembl		GRCm39 Ensembl
GRCm38	10	79,606,854 - 79,614,025 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	79,606,854 - 79,614,025 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	79,069,599 - 79,076,770 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	79,009,983 - 79,017,129 (-)	NCBI		MGSCv36	mm8
Celera	10	80,620,220 - 80,627,391 (-)	NCBI		Celera
Cytogenetic Map	10	C1	NCBI
cM Map	10	39.72	NCBI

C2cd4c
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	10,742,534 - 10,746,033 (+)	NCBI		GRCr8
mRatBN7.2	7	10,090,651 - 10,095,426 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	10,092,138 - 10,095,421 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	12,973,299 - 12,975,457 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	14,851,385 - 14,853,543 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	12,711,194 - 12,713,354 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	12,973,338 - 12,978,980 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	12,974,169 - 12,976,330 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	13,142,884 - 13,146,383 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	11,608,670 - 11,610,831 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	7	8,264,486 - 8,266,647 (+)	NCBI		Celera
Cytogenetic Map	7	q11	NCBI

C2cd4c
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955495	7,236,627 - 7,243,099 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955495	7,236,627 - 7,243,099 (+)	NCBI	ChiLan1.0	ChiLan1.0

C2CD4C
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	20	4,712,133 - 4,716,777 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	3,956,193 - 3,960,811 (-)	NCBI		NHGRI_mPanPan1
PanPan1.1	19	356,073 - 359,067 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	357,716 - 358,981 (-)	Ensembl	panpan1.1		panPan2

C2CD4C
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	58,027,422 - 58,029,144 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	58,027,399 - 58,029,105 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	57,830,231 - 57,831,902 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	58,770,492 - 58,772,163 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	20	57,824,381 - 57,826,052 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	58,304,278 - 58,305,949 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	58,507,742 - 58,509,413 (+)	NCBI		UU_Cfam_GSD_1.0

C2cd4c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	217,749,706 - 217,752,328 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936588	83,703 - 84,971 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936588	82,455 - 85,000 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

C2CD4C
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	77,849,526 - 77,850,788 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	77,847,876 - 77,852,373 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

C2CD4C
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	6	141,694 - 149,393 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	143,327 - 144,592 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666081	8,977,667 - 8,981,567 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

C2cd4c
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624828	7,999,273 - 8,002,683 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624828	7,999,179 - 8,002,462 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in C2CD4C
37 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-819679)x3	copy number gain	See cases [RCV000051144]	Chr19:259395..819679 [GRCh38] Chr19:259395..819679 [GRCh37] Chr19:210395..770679 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	copy number gain	See cases [RCV000051044]	Chr19:259395..2555149 [GRCh38] Chr19:259395..2555147 [GRCh37] Chr19:210395..2506147 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|See cases [RCV000052876]	Chr19:265917..8564134 [GRCh38] Chr19:265917..8629018 [GRCh37] Chr19:216917..8535018 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	copy number gain	See cases [RCV000052875]	Chr19:259395..1952650 [GRCh38] Chr19:259395..1952649 [GRCh37] Chr19:210395..1903649 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	copy number gain	See cases [RCV000052575]	Chr19:233565..4699472 [GRCh38] Chr19:233565..4699484 [GRCh37] Chr19:184565..4650484 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1	copy number loss	See cases [RCV000053910]	Chr19:259195..1351363 [GRCh38] Chr19:259195..1351362 [GRCh37] Chr19:210195..1302362 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]\|See cases [RCV000053911]	Chr19:266117..1076399 [GRCh38] Chr19:266117..1076398 [GRCh37] Chr19:217117..1027398 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	copy number gain	See cases [RCV000135433]	Chr19:259395..2068507 [GRCh38] Chr19:259395..2068506 [GRCh37] Chr19:210395..2019506 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:362041-471717)x3	copy number gain	See cases [RCV000139573]	Chr19:362041..471717 [GRCh38] Chr19:362041..471717 [GRCh37] Chr19:313041..422717 [NCBI36] Chr19:19p13.3	likely benign
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	copy number gain	See cases [RCV000141358]	Chr19:275925..1892276 [GRCh38] Chr19:275925..1892275 [GRCh37] Chr19:226925..1843275 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	copy number gain	See cases [RCV000142627]	Chr19:259395..6795611 [GRCh38] Chr19:259395..6795622 [GRCh37] Chr19:210395..6746622 [NCBI36] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	copy number gain	See cases [RCV000239425]	Chr19:260912..1163934 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	copy number gain	See cases [RCV000240507]	Chr19:277373..2555164 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	copy number gain	See cases [RCV002285065]	Chr19:260911..2256387 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:405501-425585)x3	copy number gain	See cases [RCV000446647]	Chr19:405501..425585 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	copy number gain	See cases [RCV000511452]	Chr19:260911..1965786 [GRCh37] Chr19:19p13.3	likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_001136263.2(C2CD4C):c.1018C>T (p.Arg340Cys)	single nucleotide variant	Inborn genetic diseases [RCV003270537]	Chr19:407344 [GRCh38] Chr19:407344 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3(chr19:259395-3152419)	copy number gain	Global developmental delay [RCV000626520]	Chr19:259395..3152419 [GRCh37] Chr19:19p13.3	likely pathogenic
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	copy number gain	not provided [RCV000513059]	Chr19:266117..1094614 [GRCh37] Chr19:19p13.3	likely pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	copy number gain	not provided [RCV000684094]	Chr19:260911..3200875 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:376791-507450)x3	copy number gain	not provided [RCV000739915]	Chr19:376791..507450 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:399896-417714)x1	copy number loss	not provided [RCV000739917]	Chr19:399896..417714 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:400258-411316)x1	copy number loss	not provided [RCV000739918]	Chr19:400258..411316 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:400390-411265)x1	copy number loss	not provided [RCV000739919]	Chr19:400390..411265 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:400770-411162)x1	copy number loss	not provided [RCV000739920]	Chr19:400770..411162 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:404901-423108)x3	copy number gain	not provided [RCV000739923]	Chr19:404901..423108 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:405593-411316)x1	copy number loss	not provided [RCV000739924]	Chr19:405593..411316 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_001136263.2(C2CD4C):c.541G>C (p.Ala181Pro)	single nucleotide variant	Inborn genetic diseases [RCV003244795]	Chr19:407821 [GRCh38] Chr19:407821 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:352288-515126)x3	copy number gain	not provided [RCV000849283]	Chr19:352288..515126 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	copy number gain	not provided [RCV000846988]	Chr19:260911..4788357 [GRCh37] Chr19:19p13.3	pathogenic
NM_001136263.2(C2CD4C):c.551G>A (p.Arg184His)	single nucleotide variant	Inborn genetic diseases [RCV003271399]	Chr19:407811 [GRCh38] Chr19:407811 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-508202)x1	copy number loss	not provided [RCV002472713]	Chr19:260912..508202 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	copy number gain	See cases [RCV001007443]	Chr19:260912..4384674 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	copy number gain	not provided [RCV001007025]	Chr19:260911..3501271 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:352288-633755)x3	copy number gain	not provided [RCV001259375]	Chr19:352288..633755 [GRCh37] Chr19:19p13.3	likely benign
NM_001136263.2(C2CD4C):c.776G>T (p.Arg259Leu)	single nucleotide variant	Inborn genetic diseases [RCV003295311]	Chr19:407586 [GRCh38] Chr19:407586 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:352289-548433)x1	copy number loss	not provided [RCV001833039]	Chr19:352289..548433 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3(chr19:260911-1319319)	copy number loss	Peutz-Jeghers syndrome [RCV002280635]	Chr19:260911..1319319 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260912-538303)x3	copy number gain	not provided [RCV002474861]	Chr19:260912..538303 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.161C>G (p.Pro54Arg)	single nucleotide variant	Inborn genetic diseases [RCV002753501]	Chr19:408201 [GRCh38] Chr19:408201 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.307C>A (p.Leu103Met)	single nucleotide variant	Inborn genetic diseases [RCV002728260]	Chr19:408055 [GRCh38] Chr19:408055 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.161C>A (p.Pro54His)	single nucleotide variant	Inborn genetic diseases [RCV002728679]	Chr19:408201 [GRCh38] Chr19:408201 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.460G>T (p.Ala154Ser)	single nucleotide variant	Inborn genetic diseases [RCV002840729]	Chr19:407902 [GRCh38] Chr19:407902 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.474C>G (p.His158Gln)	single nucleotide variant	Inborn genetic diseases [RCV002883099]	Chr19:407888 [GRCh38] Chr19:407888 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.742G>A (p.Ala248Thr)	single nucleotide variant	Inborn genetic diseases [RCV002762142]	Chr19:407620 [GRCh38] Chr19:407620 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.835C>T (p.Arg279Cys)	single nucleotide variant	Inborn genetic diseases [RCV002911600]	Chr19:407527 [GRCh38] Chr19:407527 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.510C>G (p.His170Gln)	single nucleotide variant	Inborn genetic diseases [RCV002888917]	Chr19:407852 [GRCh38] Chr19:407852 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.553C>T (p.Arg185Trp)	single nucleotide variant	Inborn genetic diseases [RCV002645302]	Chr19:407809 [GRCh38] Chr19:407809 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.854C>T (p.Pro285Leu)	single nucleotide variant	Inborn genetic diseases [RCV002763157]	Chr19:407508 [GRCh38] Chr19:407508 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.781G>A (p.Gly261Ser)	single nucleotide variant	Inborn genetic diseases [RCV003004650]	Chr19:407581 [GRCh38] Chr19:407581 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.571A>G (p.Asn191Asp)	single nucleotide variant	Inborn genetic diseases [RCV003003509]	Chr19:407791 [GRCh38] Chr19:407791 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.200C>T (p.Ala67Val)	single nucleotide variant	Inborn genetic diseases [RCV002789632]	Chr19:408162 [GRCh38] Chr19:408162 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.142C>T (p.Pro48Ser)	single nucleotide variant	Inborn genetic diseases [RCV002940524]	Chr19:408220 [GRCh38] Chr19:408220 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.769G>A (p.Val257Met)	single nucleotide variant	Inborn genetic diseases [RCV002897345]	Chr19:407593 [GRCh38] Chr19:407593 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.401G>T (p.Gly134Val)	single nucleotide variant	Inborn genetic diseases [RCV002920393]	Chr19:407961 [GRCh38] Chr19:407961 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.946G>C (p.Glu316Gln)	single nucleotide variant	Inborn genetic diseases [RCV002769154]	Chr19:407416 [GRCh38] Chr19:407416 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.1156C>T (p.Arg386Trp)	single nucleotide variant	Inborn genetic diseases [RCV002936449]	Chr19:407206 [GRCh38] Chr19:407206 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.107C>T (p.Pro36Leu)	single nucleotide variant	Inborn genetic diseases [RCV002939233]	Chr19:408255 [GRCh38] Chr19:408255 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.325C>T (p.Arg109Trp)	single nucleotide variant	Inborn genetic diseases [RCV002675253]	Chr19:408037 [GRCh38] Chr19:408037 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.622G>A (p.Gly208Ser)	single nucleotide variant	Inborn genetic diseases [RCV002673852]	Chr19:407740 [GRCh38] Chr19:407740 [GRCh37] Chr19:19p13.3	likely benign
NM_001136263.2(C2CD4C):c.1016C>T (p.Ala339Val)	single nucleotide variant	Inborn genetic diseases [RCV002965777]	Chr19:407346 [GRCh38] Chr19:407346 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.722G>A (p.Gly241Asp)	single nucleotide variant	Inborn genetic diseases [RCV002919914]	Chr19:407640 [GRCh38] Chr19:407640 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.481C>T (p.Arg161Cys)	single nucleotide variant	Inborn genetic diseases [RCV002657300]	Chr19:407881 [GRCh38] Chr19:407881 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.272G>A (p.Arg91Gln)	single nucleotide variant	Inborn genetic diseases [RCV003200015]	Chr19:408090 [GRCh38] Chr19:408090 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.986C>T (p.Ala329Val)	single nucleotide variant	Inborn genetic diseases [RCV003199187]	Chr19:407376 [GRCh38] Chr19:407376 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.974A>G (p.His325Arg)	single nucleotide variant	Inborn genetic diseases [RCV003259679]	Chr19:407388 [GRCh38] Chr19:407388 [GRCh37] Chr19:19p13.3	likely benign
NM_001136263.2(C2CD4C):c.1015G>T (p.Ala339Ser)	single nucleotide variant	Inborn genetic diseases [RCV003204705]	Chr19:407347 [GRCh38] Chr19:407347 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.415C>T (p.Pro139Ser)	single nucleotide variant	Inborn genetic diseases [RCV003219231]	Chr19:407947 [GRCh38] Chr19:407947 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.553C>G (p.Arg185Gly)	single nucleotide variant	Inborn genetic diseases [RCV003386626]	Chr19:407809 [GRCh38] Chr19:407809 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.1103G>A (p.Arg368His)	single nucleotide variant	Inborn genetic diseases [RCV003366146]	Chr19:407259 [GRCh38] Chr19:407259 [GRCh37] Chr19:19p13.3	likely benign
NM_001136263.2(C2CD4C):c.800A>C (p.Asp267Ala)	single nucleotide variant	Inborn genetic diseases [RCV003369658]	Chr19:407562 [GRCh38] Chr19:407562 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-548433)x1	copy number loss	not provided [RCV003483345]	Chr19:260912..548433 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	copy number gain	not provided [RCV003485190]	Chr19:260912..7246777 [GRCh37] Chr19:19p13.3-13.2	pathogenic
GRCh37/hg19 19p13.3(chr19:260912-713630)x1	copy number loss	not provided [RCV003483344]	Chr19:260912..713630 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001136263.2(C2CD4C):c.984C>T (p.Ala328=)	single nucleotide variant	not provided [RCV003421683]	Chr19:407378 [GRCh38] Chr19:407378 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	copy number loss	not specified [RCV003986113]	Chr19:260911..1210337 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	copy number gain	not specified [RCV003986107]	Chr19:352288..1186507 [GRCh37] Chr19:19p13.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1298
Count of miRNA genes:	533
Interacting mature miRNAs:	616
Transcripts:	ENST00000332235
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

WI-14847

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	416,601 - 416,739	UniSTS	GRCh37
Build 36	19	367,601 - 367,739	RGD	NCBI36
Celera	19	398,511 - 398,649	RGD
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	185,656 - 185,794	UniSTS
GeneMap99-GB4 RH Map	19	20.16	UniSTS
Whitehead-RH Map	19	10.3	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

High

Medium

163

156

1073

217

Low

2216

1387

1224

229

469

158

3250

1871

2619

266

1138

1278

1109

1986

Below cutoff

176

1426

316

368

774

281

911

296

125

224

785

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001136263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011527694	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054319834	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB075837	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC008988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL834341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471242	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000332235 ⟹ ENSP00000328677

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	405,445 - 409,147 (-)	Ensembl

RefSeq Acc Id:

NM_001136263 ⟹ NP_001129735

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	405,445 - 409,147 (-)	NCBI
GRCh37	19	405,443 - 409,170 (-)	RGD
Celera	19	405,821 - 409,548 (+)	RGD
HuRef	19	174,453 - 177,414 (-)	RGD
CHM1_1	19	403,286 - 407,013 (-)	NCBI
T2T-CHM13v2.0	19	353,898 - 357,600 (-)	NCBI

Sequence:

show sequence

GAGTCCGACTGCGCTGCCGCCGCCGCCGCCGCCCGCATCGAAGCTCCGGCCGCGTCCCCCGCGC
CAGCCCCGGGAGCCTGCGCGCCGAGACCCCTGCGTGTCTGCGAACAGACCTCCGGCCTCGGGCC
ATCACCCCGGGCAGACGCTGCAGCCCCTGTCCGGGCCTCTTGCCTGCCGCCCCCATGAGAAAAA
CCAACATGTGGTTCTTGGAGCGGCTTCGGGGGTCTGGGGAAAACGGTGCTGCCCGGGGCGTGGG
GAGTGAGGCGGGGGACAAGGCCTCCAAGGGGCCCCTGTACAGCAATGTGTTGACGCCCGACAAG
ATCCCCGACTTTTTCATCCCCCCCAAGCTGCCCTCGGGCCCCGCGGAGGGCGAGGGACAGGCCG
CGCTGGGCCCCTCCACGTCGGAACAGAACCTGGCCTCTGCGGCCCCCCGCCAGACCCCACGGAG
CCCCCGGCTGCCTGCCAAGCTGGCAGCCGAGAGCAAGAGCCTGCTGAAGGCAGCCACCCGGCAC
GTGATCCAGATCGAGAGTGCCGAGGACTGGCTGTCCGAGGAGGCCACTGACGCCGACCCCCAGG
CCCAGGGTGCCATGTCCCTGCCCTCGGTGCCCAAGGCCCAGACGTCCTACGGCTTCGCCATGCT
GGCTGAGAGCCCCCACACGAGGCGCAAGGAGTCTCTGTTCCACAGTGAGCACGGGGCTCTGGCC
CAGGTGGGCTCCCCAGGGGCCGGGCGCCGCCGGGCAGCTGCCAAGGCCAACGGGGGTGATGGGG
GCCCCAGGGAGGCTGGCGGGGCCCTCATGAGCCCCGGCCGCTACTTCAGTGGCGGGGAGAGCGA
CACAGGGTCCTCGGCCGAGTCCTCCCCCTTCGGGTCCCCTCTGCTGTCCCGCTCCGTGTCTCTG
CTCAAAGGTTTCGCCCAGGACAGCCAGGCCAAGGTGAGCCAGCTCCGGCACTCCGTGGGCCGCC
ACGGCTCCCTGTCTGCGGACGACAGCACCCCGGACGCCAGCCCCGGGAGCCGGCGCCGCCTGAC
CCGCCGGGCACCCCCGGAACCTGGCCCCGAGTCGGGCCAGGCGCGTGGGGAGCACACGGTCCAC
GTGGGCCCTCGGGGCAGCGTGCGGCTGCTGGCCGAGTACGAGGCCGGCCAGGCCCGCCTGCGGG
TGCACCTGCTGGCCGCCGAGGGCCTCTACGACCGCCTGTGCGACGCCCGCAGCATCAACTGCTG
CGTGGGCCTGTGCCTGGTGCCGGGCAAGCTGCAGAAGCAGCGCAGCACCATCGTGAAGAACAGC
CGCCGCCCCGTCTTCAACGAGGATTTCTTCTTCGACGGCCTGGGGCCCGCCAGCGTCCGGAAAC
TGGCCCTCAGGATCAAGGTGGTGAACAAGGGCAGCAGCCTCAAGCGGGACACGCTGCTCGGGGA
GAAGGAGCTGCCCCTGACCTCCCTGCTCCCCTTCCTGTAGAGCGGGGACCTGCTCGCTGTCCGC
TCGGGTGCAGAGGGCAGACCCCGGTCTCTCCTCCACACCGGGTGCTGGCGGGCGGGTCCGCTGG
CTTGGGCTGGGGCTGGCCGGGGAGGGGCTCACACTCAGGCTGGGCTGGGCGCTGATGCTGTAGC
TGACGCAGGGTTTCCTGGGTCACCCGATGCTGACTGGAGTATTATTTTTCATGAATTAATTTCT
CCTTTGGAGGAGGAGGAGGAGGAGGAGAGGGGCCTCGGGGGAAGAGAAGGGGCCACTTCGCGGG
GCAGAGGGTCCCCCTTTGCCCCTCCACACTGCCTCGCGCCTTTCACGCAGAGTTCTAGAAGGAG
GTTCTCAGGGGTTCAGGAATCCGTGCATGTGGCCAGGGCGGGGCCGTGGACAGGGAGGTGACAA
GTCTTGGAGCCCACAGTCTCCTTCACTGCACGTGTGTCTTCCTCCCCCACAGCCTGCCGCCATC
CAGTTCCCACCCCGCGGAGAGCAGGGCCTCGCGGCCACACCAGGCCCAGGCTCTGCCCGGGACG
CCCCCTCCCAGGGGTCAGGCTTGGCTCTGGGAGACCCCAGCTTCCCAGGCTCCGGTGGGGAGTG
GGGCCAGGCGAGGGTGCCCTGACGAGGGTGGGCGCGGAGGGAGCAGCCGCTGCCACAGTCGGAG
CAGAGGAGGTCTTGGCAGAGGTCCGCGGGGAGGAGACGGCTCTCCTGGCCTGTTTTCCTCCAAC
ACTGTCGCCGCTGGCTTTTTGGGTACAGGCCCGTCTGGCCATTTCTGCTGTGGCGCCGGAGGGT
CTTGCTCAGAGATGCCCAGAGAGCAGCCCTATGGCCCATCCGTCCTCGCTGGGGGCTGCCACCC
CGTCGCCCTTTTGTCCAGCGTCTGCAGCTGGGAGCGACACGCAGTGATTGACGGCCGTGGCTTT
GACGCCACGTGTGTAAATAGGCTGTGGCTACGGTGGGTGGGTCGGAGCCCAGGAGGCAGCTGGG
GGGACCTGGCTATGGCCTTTCCTGCTGTTAGGTGGCTGCAAGGCTTCCATTGTGTGGTTATGTG
GGTCCTTGAATGATTTTGGGGAGGTTTCCAGCTCAGAATGATGCAGAAATGATAAGACTCAAAG
CAGGGGCCAGGCCAGGCCAGTGCCTTCGCCTCTCCCGGCTGCTGGTGGGCACGGAGGAACCAGG
GCACATCTGTGGTACCCAGGGACGTCCCTTGTCAGCCCGTTTGCCACACATTGTTCCTCTTGTC
CAGGGGAGGGTGGAGGAGCTGCTTCCCAGGACTGGAGGAGCAGCTGGGCCCCTGCTGCACGTCC
GGTGGGACACACCTGTGAGCCCTCCAGAGGGAGAGTGCAGGCCCCTTCTGAGCCTGGTGTTGCA
GGGCTCCGCTCTCTCCCGGAAGCCAGGGCACCCAGGGCGGAGGCTCCTCAGGCCGGGGAGGCGG
GGAGGGTGCCCTGCATGGAGAGAGACGCCGGCGCTCCCCGCCTTCTCTGATGCTCACCCCTCCC
AGGCCCTGTTCTCCCTGGGGTCCCCCGTTTAGTAGCCCCCCTGCACTCTTTGATATCTTAGTGT
CTGAGGTTGACTGTGGGTAAATCTTTAAGACACTCCCCAGCTGTGTTTGTTTATAAATGCTGTT
TATAGTGCAATAAAGGTGTTTCGGGAA

hide sequence

RefSeq Acc Id:

XM_011527694 ⟹ XP_011525996

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	405,445 - 409,147 (-)	NCBI

Sequence:

show sequence

CCGCCGCCGCCGCCCGCATCGAAGCTCCGGCCGCGTCCCCCGCGCCAGCCCCGGGAGCCTGCGC
GCCGAGACCCCTGCGTGTCTGCGAACAGACCTCCGGCCTCGGGCCATCACCCCGGGCAGACGCT
GCAGCCCCTGTCCGGGCCTCTTGCCTGCCGCCCCCATGAGAAAAACCAACATGTGGTTCTTGGA
GCGGCTTCGGGGGTCTGGGGAAAACGGTGCTGCCCGGGGCGTGGGGAGTGAGGCGGGGGACAAG
GCCTCCAAGGGGCCCCTGTACAGCAATGTGTTGACGCCCGACAAGATCCCCGACTTTTTCATCC
CCCCCAAGCTGCCCTCGGGCCCCGCGGAGGGCGAGGGACAGGCCGCGCTGGGCCCCTCCACGTC
GGAACAGAACCTGGCCTCTGCGGCCCCCCGCCAGACCCCACGGAGCCCCCGGCTGCCTGCCAAG
CTGGCAGCCGAGAGCAAGAGCCTGCTGAAGGCAGCCACCCGGCACGTGATCCAGATCGAGAGTG
CCGAGGACTGGCTGTCCGAGGAGGCCACTGACGCCGACCCCCAGGCCCAGGGTGCCATGTCCCT
GCCCTCGGTGCCCAAGGCCCAGACGTCCTACGGCTTCGCCATGCTGGCTGAGAGCCCCCACACG
AGGCGCAAGGAGTCTCTGTTCCACAGTGAGCACGGGGCTCTGGCCCAGGTGGGCTCCCCAGGGG
CCGGGCGCCGCCGGGCAGCTGCCAAGGCCAACGGGGGTGATGGGGGCCCCAGGGAGGCTGGCGG
GGCCCTCATGAGCCCCGGCCGCTACTTCAGTGGCGGGGAGAGCGACACAGGGTCCTCGGCCGAG
TCCTCCCCCTTCGGGTCCCCTCTGCTGTCCCGCTCCGTGTCTCTGCTCAAAGGTTTCGCCCAGG
ACAGCCAGGCCAAGGTGAGCCAGCTCCGGCACTCCGTGGGCCGCCACGGCTCCCTGTCTGCGGA
CGACAGCACCCCGGACGCCAGCCCCGGGAGCCGGCGCCGCCTGACCCGCCGGGCACCCCCGGAA
CCTGGCCCCGAGTCGGGCCAGGCGCGTGGGGAGCACACGGTCCACGTGGGCCCTCGGGGCAGCG
TGCGGCTGCTGGCCGAGTACGAGGCCGGCCAGGCCCGCCTGCGGGTGCACCTGCTGGCCGCCGA
GGGCCTCTACGACCGCCTGTGCGACGCCCGCAGCATCAACTGCTGCGTGGGCCTGTGCCTGGTG
CCGGGCAAGCTGCAGAAGCAGCGCAGCACCATCGTGAAGAACAGCCGCCGCCCCGTCTTCAACG
AGGATTTCTTCTTCGACGGCCTGGGGCCCGCCAGCGTCCGGAAACTGGCCCTCAGGATCAAGCC
TGCCGCCATCCAGTTCCCACCCCGCGGAGAGCAGGGCCTCGCGGCCACACCAGGCCCAGGCTCT
GCCCGGGACGCCCCCTCCCAGGGGTCAGGCTTGGCTCTGGGAGACCCCAGCTTCCCAGGCTCCG
GTGGGGAGTGGGGCCAGGCGAGGGTGCCCTGACGAGGGTGGGCGCGGAGGGAGCAGCCGCTGCC
ACAGTCGGAGCAGAGGAGGTCTTGGCAGAGGTCCGCGGGGAGGAGACGGCTCTCCTGGCCTGTT
TTCCTCCAACACTGTCGCCGCTGGCTTTTTGGGTACAGGCCCGTCTGGCCATTTCTGCTGTGGC
GCCGGAGGGTCTTGCTCAGAGATGCCCAGAGAGCAGCCCTATGGCCCATCCGTCCTCGCTGGGG
GCTGCCACCCCGTCGCCCTTTTGTCCAGCGTCTGCAGCTGGGAGCGACACGCAGTGATTGACGG
CCGTGGCTTTGACGCCACGTGTGTAAATAGGCTGTGGCTACGGTGGGTGGGTCGGAGCCCAGGA
GGCAGCTGGGGGGACCTGGCTATGGCCTTTCCTGCTGTTAGGTGGCTGCAAGGCTTCCATTGTG
TGGTTATGTGGGTCCTTGAATGATTTTGGGGAGGTTTCCAGCTCAGAATGATGCAGAAATGATA
AGACTCAAAGCAGGGGCCAGGCCAGGCCAGTGCCTTCGCCTCTCCCGGCTGCTGGTGGGCACGG
AGGAACCAGGGCACATCTGTGGTACCCAGGGACGTCCCTTGTCAGCCCGTTTGCCACACATTGT
TCCTCTTGTCCAGGGGAGGGTGGAGGAGCTGCTTCCCAGGACTGGAGGAGCAGCTGGGCCCCTG
CTGCACGTCCGGTGGGACACACCTGTGAGCCCTCCAGAGGGAGAGTGCAGGCCCCTTCTGAGCC
TGGTGTTGCAGGGCTCCGCTCTCTCCCGGAAGCCAGGGCACCCAGGGCGGAGGCTCCTCAGGCC
GGGGAGGCGGGGAGGGTGCCCTGCATGGAGAGAGACGCCGGCGCTCCCCGCCTTCTCTGATGCT
CACCCCTCCCAGGCCCTGTTCTCCCTGGGGTCCCCCGTTTAGTAGCCCCCCTGCACTCTTTGAT
ATCTTAGTGTCTGAGGTTGACTGTGGGTAAATCTTTAAGACACTCCCCAGCTGTGTTTGTTTAT
AAATGCTGTTTATAGTGCAATAAAGGTGTTTCGGGAATACGGGGGTG

hide sequence

RefSeq Acc Id:

XM_054319834 ⟹ XP_054175809

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	353,898 - 357,600 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001129735	(Get FASTA)	NCBI Sequence Viewer
	XP_011525996	(Get FASTA)	NCBI Sequence Viewer
	XP_054175809	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	BAB85543	(Get FASTA)	NCBI Sequence Viewer
	CAD39008	(Get FASTA)	NCBI Sequence Viewer
	EAW61198	(Get FASTA)	NCBI Sequence Viewer
	EAW61199	(Get FASTA)	NCBI Sequence Viewer
	EAW61200	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000328677
	ENSP00000328677.4
GenBank Protein	Q8TF44	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001129735 ⟸ NM_001136263

- UniProtKB:

Q8N3H7 (UniProtKB/Swiss-Prot), Q8TF44 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MRKTNMWFLERLRGSGENGAARGVGSEAGDKASKGPLYSNVLTPDKIPDFFIPPKLPSGPAEGE
GQAALGPSTSEQNLASAAPRQTPRSPRLPAKLAAESKSLLKAATRHVIQIESAEDWLSEEATDA
DPQAQGAMSLPSVPKAQTSYGFAMLAESPHTRRKESLFHSEHGALAQVGSPGAGRRRAAAKANG
GDGGPREAGGALMSPGRYFSGGESDTGSSAESSPFGSPLLSRSVSLLKGFAQDSQAKVSQLRHS
VGRHGSLSADDSTPDASPGSRRRLTRRAPPEPGPESGQARGEHTVHVGPRGSVRLLAEYEAGQA
RLRVHLLAAEGLYDRLCDARSINCCVGLCLVPGKLQKQRSTIVKNSRRPVFNEDFFFDGLGPAS
VRKLALRIKVVNKGSSLKRDTLLGEKELPLTSLLPFL

hide sequence

RefSeq Acc Id:

XP_011525996 ⟸ XM_011527694

- Peptide Label:

isoform X1

- Sequence:

show sequence

MRKTNMWFLERLRGSGENGAARGVGSEAGDKASKGPLYSNVLTPDKIPDFFIPPKLPSGPAEGE
GQAALGPSTSEQNLASAAPRQTPRSPRLPAKLAAESKSLLKAATRHVIQIESAEDWLSEEATDA
DPQAQGAMSLPSVPKAQTSYGFAMLAESPHTRRKESLFHSEHGALAQVGSPGAGRRRAAAKANG
GDGGPREAGGALMSPGRYFSGGESDTGSSAESSPFGSPLLSRSVSLLKGFAQDSQAKVSQLRHS
VGRHGSLSADDSTPDASPGSRRRLTRRAPPEPGPESGQARGEHTVHVGPRGSVRLLAEYEAGQA
RLRVHLLAAEGLYDRLCDARSINCCVGLCLVPGKLQKQRSTIVKNSRRPVFNEDFFFDGLGPAS
VRKLALRIKPAAIQFPPRGEQGLAATPGPGSARDAPSQGSGLALGDPSFPGSGGEWGQARVP

hide sequence

RefSeq Acc Id:

ENSP00000328677 ⟸ ENST00000332235

RefSeq Acc Id:	XP_054175809 ⟸ XM_054319834
- Peptide Label:	isoform X1

Protein Domains

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8TF44-F1-model_v2	AlphaFold	Q8TF44	1-421	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:29417	AgrOrtholog
COSMIC	C2CD4C	COSMIC
Ensembl Genes	ENSG00000183186	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000332235	ENTREZGENE
	ENST00000332235.8	UniProtKB/Swiss-Prot
Gene3D-CATH	2.60.40.150	UniProtKB/Swiss-Prot
GTEx	ENSG00000183186	GTEx
HGNC ID	HGNC:29417	ENTREZGENE
Human Proteome Map	C2CD4C	Human Proteome Map
InterPro	C2_dom	UniProtKB/Swiss-Prot
	C2_domain_sf	UniProtKB/Swiss-Prot
	C2C4C/C2C4D	UniProtKB/Swiss-Prot
KEGG Report	hsa:126567	UniProtKB/Swiss-Prot
NCBI Gene	126567	ENTREZGENE
OMIM	610336	OMIM
PANTHER	PTHR46291	UniProtKB/Swiss-Prot
	PTHR46291:SF5	UniProtKB/Swiss-Prot
Pfam	PF00168	UniProtKB/Swiss-Prot
PharmGKB	PA165393218	PharmGKB
PROSITE	PS50004	UniProtKB/Swiss-Prot
SMART	SM00239	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF49562	UniProtKB/Swiss-Prot
UniProt	C2C4C_HUMAN	UniProtKB/Swiss-Prot
	Q8N3H7	ENTREZGENE
	Q8TF44	ENTREZGENE
UniProt Secondary	Q8N3H7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-06-21	C2CD4C	C2 calcium dependent domain containing 4C		C2 calcium-dependent domain containing 4C	Symbol and/or name change	5135510	APPROVED
2011-07-27	C2CD4C	C2 calcium-dependent domain containing 4C	FAM148C	family with sequence similarity 148, member C	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar