DDHD2

GENERAL INFORMATION

? »

Gene name

DDHD2

Gene description

DDHD domain containing 2

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

12
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression, most abundant in the intestine.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 4 antibodies.
HPA023143 , HPA023147 , HPA023150 , CAB015202
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

DDHD2 (HGNC Symbol)

Synonyms

KIAA0725, SAMWD1, SPG54

Description

DDHD domain containing 2 (HGNC Symbol)

Entrez gene summary

This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Chromosome

8

Cytoband

p11.23

Chromosome location (bp)

38225218 - 38275558

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000085788 (version 78.38)

Entrez gene

23259

UniProt

O94830 (UniProt - Evidence at protein level)

neXtProt

NX_O94830

Antibodypedia

DDHD2 antibodies


PROTEIN BROWSER

? »
 
 
 « 
 
ENST00000397166
 
ENST00000517385
 
ENST00000520272
 
ENST00000526144
 
ENST00000527834
 
ENST00000528358
 
ENST00000528613
 
ENST00000529642
 
ENST00000529845
 
ENST00000532106
 
ENST00000532222
 
ENST00000533100
 
 » 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DDHD2-001 ENSP00000380352
ENST00000397166
O94830
Show all »
Show » Show » 711 81 No 0
DDHD2-003 ENSP00000429932
ENST00000520272
O94830
Show all »
Show » Show » 711 81 No 0
DDHD2-005 ENSP00000429017
ENST00000517385
E9PK57
Show all »
Show » Show » 330 37.7 No 0
DDHD2-007 ENSP00000432433
ENST00000527834
E9PQY9
Show all »
Show » 156 18 No 0
DDHD2-008 ENSP00000436444
ENST00000529642
E9PP45
Show all »
Show » 57 7 No 0
DDHD2-009 ENSP00000433118
ENST00000528358
E9PM60
Show all »
Show » 161 18.7 No 0
DDHD2-013 ENSP00000433578
ENST00000532222
E9PKE6
Show all »
Show » 222 25.5 No 0
DDHD2-016 ENSP00000437097
ENST00000532106
Show » 183 20.4 No 0
DDHD2-020 ENSP00000435040
ENST00000528613
H0YE64
Show all »
Show » Show » 79 9.1 No 0
DDHD2-021 ENSP00000437029
ENST00000526144
E9PK57
Show all »
Show » Show » 213 24.4 No 0
DDHD2-023 ENSP00000432678
ENST00000533100
E9PPH8
Show all »
Show » 137 15.7 No 0
DDHD2-024 ENSP00000431638
ENST00000529845
E9PK57
Show all »
Show » Show » 162 18.6 No 0